NCBI
Human genome overview page (Annotation Release 106)
Human genome overview page (Annotation Release 105)
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Region Shown:

Homo sapiens (human)  Annotation Release 106 (Current)BLAST human sequences
Chromosome: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 [ 16 ] 17 18 19 20 21 22 X Y MT
Query: SRCAP    [clear]
 Master Map: Phenotype (includes QTLs) Summary of Maps mapsnoptions.gif 
Region Displayed: 29,830K-31,630K bp   Download/View Sequence/Evidence

Summary of Maps:
Map 1: VariationTable View
Region Displayed: 29,830K-31,630K bp   Download/View Sequence/Evidence
Total Variations On Chromosome: 1924105 [404 not localized]
Variations Labeled: 30 Total Variations in Region: 30
Map 2: Genes On SequenceTable View
Region Displayed: 29,830K-31,630K bp   Download/View Sequence/Evidence
Total Genes On Chromosome: 1535 [22 not localized]
Genes Labeled: 50 Total Genes in Region: 105
Map 3: Phenotype (includes QTLs)Table View
Region Displayed: 29,830K-31,630K bp   Download/View Sequence/Evidence
Total Phenotypes On Chromosome: 157
Phenotypes Labeled: 10 Total Phenotypes in Region: 10
GeneALDOA
fructose-1,6-bisphosphate triosephosphate-lyase
fructose-bisphosphate aldolase A
fructose-1,6-bisphosphate triosephosphate-lyase|fructose-bisphosphate aldolase A
fructose-1,6-bisphosphate triosephosphate-lyase|fructose-bisphosphate aldolase A|lung cancer antigen NY-LU-1|muscle-type aldolase
muscle-type aldolase
lung cancer antigen NY-LU-1
OTTHUMP00000162983
hCG_1811258
OTTHUMP00000162983|OTTHUMP00000162984|fructose-1,6-bisphosphate triosephosphate-lyase|fructose-bisphosphate aldolase A|lung cancer antigen NY-LU-1|muscle-type aldolase
OTTHUMP00000162984|fructose-1,6-bisphosphate triosephosphate-lyase|fructose-bisphosphate aldolase A|lung cancer antigen NY-LU-1|muscle-type aldolase
epididymis secretory sperm binding protein Li 87p
OTTHUMP00000162984
Aliases
ALDA, MGC17767, ALDOA, MGC17716, MGC10942, GSD12, HEL-S-87p
GeneCTF1
OTTHUMP00000163250|cardiophin 1|cardiotrophin-1
hCG_21148
OTTHUMP00000163250
cardiophin 1|cardiotrophin-1
cardiophin 1
cardiotrophin-1
Aliases
CT1, CT-1, CTF1
GeneSEPT1
OTTHUMP00000045869|differentiation 6 (deoxyguanosine triphosphate triphosphohydrolase)|peanut-like protein 3|septin-1|serologically defined breast cancer antigen NY-BR-24
hCG_1747652
OTTHUMP00000045869
differentiation 6 (deoxyguanosine triphosphate triphosphohydrolase)
septin-1
serologically defined breast cancer antigen NY-BR-24
peanut-like protein 3
differentiation 6 (deoxyguanosine triphosphate triphosphohydrolase)|peanut-like protein 3|septin-1|serologically defined breast cancer antigen NY-BR-24
differentiation 6 (deoxyguanosine triphosphate triphosphohydrolase)|serologically defined breast cancer antigen NY-BR-24
Aliases
MGC20394, SEPT1, LARP, SEP1, DIFF6, PNUTL3
GeneFUS
75 kDa DNA-pairing protein|RNA-binding protein FUS|fus-like protein|fusion gene in myxoid liposarcoma|heterogeneous nuclear ribonucleoprotein P2|oncogene FUS|oncogene TLS|translocated in liposarcoma protein
heterogeneous nuclear ribonucleoprotein P2
translocated in liposarcoma protein
oncogene TLS
fusion gene in myxoid liposarcoma
RNA-binding protein FUS
75 kDa DNA-pairing protein
fus-like protein
translocated in liposarcoma
75 kDa DNA-pairing protein|RNA-binding protein FUS|fus-like protein|fusion gene in myxoid liposarcoma|heterogeneous nuclear ribonucleoprotein P2|oncogene TLS|translocated in liposarcoma
oncogene FUS
fused in sarcoma
hCG_21147
75 kDa DNA-pairing protein|OTTHUMP00000163228|RNA-binding protein FUS|fus-like protein|fusion gene in myxoid liposarcoma|heterogeneous nuclear ribonucleoprotein P2|oncogene FUS|oncogene TLS|translocated in liposarcoma protein
OTTHUMP00000163228
Aliases
HNRNPP2, POMP75, FUS, FUS1, ALS6, TLS, ETM4
GeneITGAD
hCG_168149
CD11 antigen-like family member D
integrin alpha-D
CD11 antigen-like family member D|integrin alpha-D|leukointegrin alpha D
leukointegrin alpha D
Aliases
ADB2, ITGAD, FLJ39841, CD11D
GeneITGAL
hCG_18670
integrin alpha-L
integrin gene promoter
lymphocyte function-associated antigen 1
leukocyte adhesion glycoprotein LFA-1 alpha chain
CD11 antigen-like family member A
CD11 antigen-like family member A|LFA-1 alpha|LFA-1A|antigen CD11A (p180), lymphocyte function-associated antigen 1, alpha polypeptide|integrin alpha-L|integrin gene promoter|leukocyte adhesion glycoprotein LFA-1 alpha chain|leukocyte function-associated molecule 1 alpha chain|lymphocyte function-associated antigen 1
LFA-1 alpha
integrin alpha L
antigen CD11A (p180), lymphocyte function-associated antigen 1, alpha polypeptide
leukocyte function-associated molecule 1 alpha chain
LFA-1 alpha|antigen CD11A (p180), lymphocyte function-associated antigen 1, alpha polypeptide|integrin alpha L|integrin gene promoter|lymphocyte function-associated antigen 1
LFA-1A
Aliases
LFA1A, CD11A, ITGAL, LFA-1
GeneITGAM
hCG_1998613
CD11 antigen-like family member B
CR-3 alpha chain
integrin alpha-M
CD11 antigen-like family member B|CR-3 alpha chain|antigen CD11b (p170)|cell surface glycoprotein MAC-1 subunit alpha|integrin alpha-M|leukocyte adhesion receptor MO1|macrophage antigen alpha polypeptide|neutrophil adherence receptor alpha-M subunit
antigen CD11b (p170)
antigen CD11b (p170)|integrin alpha M|macrophage antigen alpha polypeptide|neutrophil adherence receptor alpha-M subunit
integrin alpha M
cell surface glycoprotein MAC-1 subunit alpha
leukocyte adhesion receptor MO1
macrophage antigen alpha polypeptide
neutrophil adherence receptor alpha-M subunit
Aliases
MO1A, MGC117044, CD11B, CR3A, MAC-1, ITGAM, SLEB6, MAC1A
GeneITGAX
OTTHUMP00000163299
hCG_1789754
CD11 antigen-like family member C|OTTHUMP00000163299|integrin alpha-X|integrin, alpha X (antigen CD11C (p150), alpha polypeptide)|leu M5, alpha subunit|leukocyte adhesion glycoprotein p150,95 alpha chain|leukocyte adhesion receptor p150,95|leukocyte surface antigen p150,95, alpha subunit|myeloid membrane antigen, alpha subunit|p150 95 integrin alpha chain
integrin alpha-X
integrin alpha X
CD11 antigen-like family member C
leu M5, alpha subunit
p150 95 integrin alpha chain
integrin, alpha X (antigen CD11C (p150), alpha polypeptide)
integrin alpha X|integrin, alpha X (antigen CD11C (p150), alpha polypeptide)|leu M5, alpha subunit|leukocyte surface antigen p150,95, alpha subunit|myeloid membrane antigen, alpha subunit|p150 95 integrin alpha chain
leukocyte adhesion glycoprotein p150,95 alpha chain
myeloid membrane antigen, alpha subunit
leukocyte surface antigen p150,95, alpha subunit
leukocyte adhesion receptor p150,95
CD11 antigen-like family member C|integrin alpha-X|integrin, alpha X (antigen CD11C (p150), alpha polypeptide)|leu M5, alpha subunit|leukocyte adhesion glycoprotein p150,95 alpha chain|leukocyte adhesion receptor p150,95|leukocyte surface antigen p150,95, alpha subunit|myeloid membrane antigen, alpha subunit|p150 95 integrin alpha chain
Aliases
CD11C, ITGAX, SLEB6
GenePHKG2
OTTHUMP00000163233
Phosphorylase kinase, gamma 2 (testis/liver)
phosphorylase b kinase gamma catalytic chain, testis/liver isoform
PHK-gamma-T|PSK-C3|Phosphorylase kinase, gamma 2 (testis/liver)|phosphorylase b kinase gamma catalytic chain, testis/liver isoform|phosphorylase kinase subunit gamma-2
phosphorylase kinase subunit gamma-2
PSK-C3
PHK-gamma-T
OTTHUMP00000163233|PHK-gamma-T|PSK-C3|Phosphorylase kinase, gamma 2 (testis/liver)|phosphorylase b kinase gamma catalytic chain, testis/liver isoform|phosphorylase kinase subunit gamma-2
hCG_21153
phosphorylase b kinase gamma catalytic chain, liver/testis isoform
PHK-gamma-LT
serine/threonine-protein kinase PHKG2
Aliases
PHKG2, GSD9C, RP11-2C24.4
GenePPP4C
protein phosphatase 4, catalytic subunit|protein phosphatase X|serine/threonine-protein phosphatase 4
PP-X|protein phosphatase 4 (formerly X), catalytic subunit|protein phosphatase X, catalytic subunit|serine/threonine-protein phosphatase 4 catalytic subunit
protein phosphatase X
serine/threonine-protein phosphatase 4
protein phosphatase 4, catalytic subunit
serine/threonine-protein phosphatase 4 catalytic subunit
protein phosphatase X, catalytic subunit
PP-X
OTTHUMP00000162993
protein phosphatase 4 (formerly X), catalytic subunit
hCG_1770706
Aliases
PP4C, PPX, PPH3, PPP4C, PP4, PPP4
GeneMAPK3
OTTHUMP00000233577
OTTHUMP00000174540
OTTHUMP00000163018
OTTHUMP00000233575
OTTHUMP00000174539
OTTHUMP00000233574
ERK-1|ERT2|MAP kinase 1|MAP kinase 3|MAP kinase isoform p44|MAPK 1|MAPK 3|OTTHUMP00000163018|OTTHUMP00000174538|OTTHUMP00000174539|OTTHUMP00000174540|OTTHUMP00000174541|OTTHUMP00000233574|OTTHUMP00000233575|OTTHUMP00000233577|extracellular signal-regulated kinase 1|extracellular signal-related kinase 1|insulin-stimulated MAP2 kinase|microtubule-associated protein 2 kinase|mitogen-activated protein kinase 1|p44-ERK1|p44-MAPK
ERT2
OTTHUMP00000174538|extracellular signal-regulated kinase 1|extracellular signal-related kinase 1
MAPK 1
MAP kinase 3
MAP kinase isoform p44
extracellular signal-regulated kinase 1
OTTHUMP00000174538
mitogen-activated protein kinase 1
extracellular signal-related kinase 1
MAPK 3
ERK-1
insulin-stimulated MAP2 kinase
ERK-1|ERT2|MAP kinase 1|MAP kinase 3|MAP kinase isoform p44|MAPK 1|MAPK 3|extracellular signal-regulated kinase 1|extracellular signal-related kinase 1|insulin-stimulated MAP2 kinase|microtubule-associated protein 2 kinase|mitogen-activated protein kinase 1|p44-ERK1|p44-MAPK
p44-MAPK
microtubule-associated protein 2 kinase
p44-ERK1
MAP kinase 1
hCG_1983753
ERK-1|ERT2|MAP kinase 1|MAP kinase 3|MAP kinase isoform p44|MAPK 1|MAPK 3|OTTHUMP00000174538|OTTHUMP00000174541|extracellular signal-regulated kinase 1|extracellular signal-related kinase 1|insulin-stimulated MAP2 kinase|microtubule-associated protein 2 kinase|mitogen-activated protein kinase 1|p44-ERK1|p44-MAPK
OTTHUMP00000174541
Aliases
P44MAPK, MAPK3, ERK1, HUMKER1A, HS44KDAP, P44ERK1, MGC20180, PRKM3
GenePRSS8
hCG_1771997
channel-activating protease 1|prostasin
channel-activating protease 1
channel-activating protease 1|prostasin|serine protease 8
serine protease 8
prostasin
Aliases
PRSS8, CAP1, PROSTASIN
GeneSLC5A2
OTTHUMP00000163298
hCG_201215
Na(+)/glucose cotransporter 2|low affinity sodium-glucose cotransporter|sodium/glucose cotransporter 2|solute carrier family 5 (sodium/glucose transporter), member 2|solute carrier family 5 member 2
solute carrier family 5 (sodium/glucose transporter), member 2
solute carrier family 5 member 2
Na(+)/glucose cotransporter 2
sodium/glucose cotransporter 2
low affinity sodium-glucose cotransporter
Na(+)/glucose cotransporter 2|low affinity sodium-glucose cotransporter|solute carrier family 5 (sodium/glucose transporter), member 2
Na(+)/glucose cotransporter 2|OTTHUMP00000163298|low affinity sodium-glucose cotransporter|sodium/glucose cotransporter 2|solute carrier family 5 (sodium/glucose transporter), member 2|solute carrier family 5 member 2
Aliases
SLC5A2, SGLT2
GeneSTX4
OTTHUMP00000196803|renal carcinoma antigen NY-REN-31|syntaxin 4A (placental)|syntaxin-4
OTTHUMP00000163238
hCG_21149
OTTHUMP00000163238|OTTHUMP00000196803|renal carcinoma antigen NY-REN-31|syntaxin 4A (placental)|syntaxin-4
syntaxin 4A (placental)
renal carcinoma antigen NY-REN-31
syntaxin-4
renal carcinoma antigen NY-REN-31|syntaxin 4A (placental)|syntaxin-4
OTTHUMP00000196803
Aliases
STX4, STX4A, p35-2
GeneSULT1A3
OTTHUMP00000045746|OTTHUMP00000045747|ST1A3/ST1A4|aryl sulfotransferase 1A3/1A4|catecholamine-sulfating phenol sulfotransferase|dopamine-specific sulfotransferase|monoamine-preferring sulfotransferase|monoamine-sulfating phenol sulfotransferase|monoamine-sulfating phenosulfotransferase|phenol sulfotransferase 1A5*4|placental estrogen sulfotransferase|sulfokinase|sulfotransferase 1A3/1A4|sulfotransferase, monoamine-preferring|thermolabile (monoamine, M form) phenol sulfotransferase|thermolabile phenol sulfotransferase
sulfotransferase 1A3
OTTHUMP00000045746|OTTHUMP00000045747|aryl sulfotransferase 1A3/1A4|catecholamine-sulfating phenol sulfotransferase|dopamine-specific sulfotransferase|monoamine-sulfating phenosulfotransferase|phenol sulfotransferase 1A5|placental estrogen sulfotransferase|sulfokinase|sulfotransferase 1A3/1A4|thermolabile (monoamine, M form) phenol sulfotransferase
phenol sulfotransferase 1A5
ST1A3/ST1A4|aryl sulfotransferase 1A3/1A4|catecholamine-sulfating phenol sulfotransferase|dopamine-specific sulfotransferase|monoamine-preferring sulfotransferase|monoamine-sulfating phenol sulfotransferase|monoamine-sulfating phenosulfotransferase|phenol sulfotransferase 1A5*4|placental estrogen sulfotransferase|sulfokinase|sulfotransferase 1A3/1A4|sulfotransferase, monoamine-preferring|thermolabile (monoamine, M form) phenol sulfotransferase|thermolabile phenol sulfotransferase
monoamine-sulfating phenol sulfotransferase
placental estrogen sulfotransferase
monoamine-sulfating phenosulfotransferase
sulfotransferase, monoamine-preferring
aryl sulfotransferase 1A3/1A4
monoamine-preferring sulfotransferase
OTTHUMP00000045747
catecholamine-sulfating phenol sulfotransferase
aryl sulfotransferase 1A3/1A4|catecholamine-sulfating phenol sulfotransferase|dopamine-specific sulfotransferase|monoamine-preferring sulfotransferase|monoamine-sulfating phenol sulfotransferase|monoamine-sulfating phenosulfotransferase|phenol sulfotransferase 1A5*4|placental estrogen sulfotransferase|sulfokinase|sulfotransferase 1A3/1A4|sulfotransferase, monoamine-preferring|thermolabile (monoamine, M form) phenol sulfotransferase|thermolabile phenol sulfotransferase
ST1A3/ST1A4
OTTHUMP00000045746
phenol sulfotransferase 1A5*4
dopamine-specific sulfotransferase
sulfotransferase 1A3/1A4
OTTHUMP00000045746|OTTHUMP00000045747|aryl sulfotransferase|catecholamine-sulfating phenol sulfotransferase|dopamine-specific sulfotransferase|monoamine-preferring sulfotransferase|monoamine-sulfating phenosulfotransferase|phenol sulfotransferase 1A5*4|placental estrogen sulfotransferase|sulfokinase|thermolabile (monoamine, M form) phenol sulfotransferase|thermolabile phenol sulfotransferase
sulfokinase
thermolabile phenol sulfotransferase
aryl sulfotransferase
thermolabile (monoamine, M form) phenol sulfotransferase
Aliases
ST1A3, ST1A5, HAST, MGC117469, SULT1A4, SULT1A3, HAST3, STM, TL-PST, M-PST
GeneTBX6
OTTHUMP00000162995|T-box protein 6|T-box transcription factor TBX6
hCG_1770705
T-box protein 6|T-box transcription factor TBX6
OTTHUMP00000162995
T-box transcription factor TBX6
T-box protein 6
Aliases
SCDO5, DFNB67, TBX6
GeneTGFB1I1
androgen receptor coactivator ARA55|androgen receptor-associated protein of 55 kDa|hydrogen peroxide-inducible clone 5 protein
androgen receptor-associated protein of 55 kDa
hydrogen peroxide-inducible clone 5 protein
androgen receptor coactivator ARA55
androgen receptor coactivator 55 kDa protein
transforming growth factor beta-1-induced transcript 1 protein
OTTHUMP00000197012
OTTHUMP00000163301
hCG_1772006
OTTHUMP00000163301|OTTHUMP00000197012|androgen receptor coactivator 55 kDa protein|androgen receptor coactivator ARA55|androgen receptor-associated protein of 55 kDa|hydrogen peroxide-inducible clone 5 protein|transforming growth factor beta-1-induced transcript 1 protein
hydrogen peroxide-inducible clone-5
androgen receptor coactivator 55 kDa protein|androgen receptor coactivator ARA55|androgen receptor-associated protein of 55 kDa|hydrogen peroxide-inducible clone 5 protein|transforming growth factor beta-1-induced transcript 1 protein
Aliases
TGFB1I1, TSC-5, HIC-5, ARA55, HIC5
GeneDOC2A
doc2-alpha
double C2-like domain-containing protein alpha
doc2-alpha|double C2-like domain-containing protein alpha
double C2-like domains, alpha
OTTHUMP00000162986
hCG_1770716
Aliases
Doc2, DOC2A
GeneTAOK2
hCG_18349
OTTHUMP00000162989
OTTHUMP00000162990
thousand and one amino acid protein kinase 2
prostate-derived sterile 20-like kinase 1
PSK-1|hKFC-C|kinase from chicken homolog C|prostate derived STE20-like kinase PSK|prostate-derived STE20-like kinase 1|serine/threonine-protein kinase TAO2|thousand and one amino acid protein 2|thousand and one amino acid protein kinase
prostate derived STE20-like kinase PSK|thousand and one amino acid protein kinase
kinase from chicken homolog C
prostate derived STE20-like kinase PSK
thousand and one amino acid protein kinase
hKFC-C
serine/threonine-protein kinase TAO2
prostate-derived STE20-like kinase 1
thousand and one amino acid protein 2
PSK-1
OTTHUMP00000162989|OTTHUMP00000162990|PSK-1|hKFC-C|kinase from chicken homolog C|prostate derived STE20-like kinase PSK|prostate-derived STE20-like kinase 1|serine/threonine-protein kinase TAO2|thousand and one amino acid protein 2|thousand and one amino acid protein kinase
Aliases
PSK, KIAA0881, PSK1-BETA, TAO1, MAP3K17, TAOK2, PSK1, TAO2
GeneSETD1A
OTTHUMP00000197439|SET domain-containing protein 1A|hSET1A|histone-lysine N-methyltransferase SETD1A|lysine N-methyltransferase 2F|set1/Ash2 histone methyltransferase complex subunit SET1
lysine N-methyltransferase 2F
SET domain-containing protein 1A
hSET1A
set1/Ash2 histone methyltransferase complex subunit SET1
SET domain-containing protein 1A|hSET1A|histone-lysine N-methyltransferase SETD1A|lysine N-methyltransferase 2F|set1/Ash2 histone methyltransferase complex subunit SET1
histone-lysine N-methyltransferase SETD1A
OTTHUMP00000197439
Aliases
KIAA0339, Set1, Set1A, SETD1A, KMT2F
GeneRNF40
95 kDa retinoblastoma protein binding protein|95 kDa retinoblastoma-associated protein|BRE1 E3 ubiquitin ligase homolog B|BRE1-B|E3 ubiquitin-protein ligase BRE1B|OTTHUMP00000163227|Rb-associated protein
hCG_1999649
OTTHUMP00000163227
95 kDa retinoblastoma protein binding protein|BRE1 E3 ubiquitin ligase homolog B|Rb-associated protein
Rb-associated protein
BRE1 E3 ubiquitin ligase homolog B
95 kDa retinoblastoma protein binding protein|95 kDa retinoblastoma-associated protein|BRE1 E3 ubiquitin ligase homolog B|BRE1-B|E3 ubiquitin-protein ligase BRE1B|Rb-associated protein
E3 ubiquitin-protein ligase BRE1B
95 kDa retinoblastoma protein binding protein
BRE1-B
95 kDa retinoblastoma-associated protein
ring finger protein 40
Aliases
STARING, RBP95, RNF40, MGC13051, DKFZp686K191, KIAA0661, BRE1B
GeneMVP
OTTHUMP00000045913|lung resistance-related protein
hCG_1985644
OTTHUMP00000045913
lung resistance-related protein
Aliases
MVP, LRP, VAULT1
GeneBCKDK
OTTHUMP00000044999
BCKDHKIN
branched chain ketoacid dehydrogenase kinase
branched chain alpha-ketoacid dehydrogenase kinase
BCKD-kinase
branched-chain alpha-ketoacid dehydrogenase kinase
OTTHUMP00000044998
[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial
OTTHUMP00000044997
OTTHUMP00000044996
hCG_21145
Aliases
BCKDK, BDK, BCKDKD
GeneCD2BP2
CD2 cytoplasmic domain binding protein 2
CD2 antigen (cytoplasmic tail) binding protein 2
CD2 tail-binding protein 2
CD2 binding protein 2
CD2 cytoplasmic domain-binding protein 2
CD2 antigen cytoplasmic tail-binding protein 2
CD2 antigen (cytoplasmic tail) binding protein 2|CD2 antigen cytoplasmic tail-binding protein 2|CD2 binding protein 2|CD2 cytoplasmic domain binding protein 2|CD2 cytoplasmic domain-binding protein 2|CD2 tail-binding protein 2|U5 snRNP 52K protein
U5 snRNP 52K protein
CD2 antigen (cytoplasmic tail) binding protein 2|CD2 binding protein 2|CD2 cytoplasmic domain binding protein 2|U5 snRNP 52K protein
CD2 antigen (cytoplasmic tail) binding protein 2|CD2 antigen cytoplasmic tail-binding protein 2|CD2 binding protein 2|CD2 cytoplasmic domain binding protein 2|CD2 cytoplasmic domain-binding protein 2|CD2 tail-binding protein 2|OTTHUMP00000163230|U5 snRNP 52K protein
OTTHUMP00000163230
hCG_96444
protein phosphatase 1, regulatory subunit 59
Aliases
FWP010, LIN1, CD2BP2, U5-52K, Snu40, PPP1R59
GeneCDIPT
OTTHUMP00000162985|PI synthase|PtdIns synthase|phosphatidylinositol synthase
PI synthase|PtdIns synthase|phosphatidylinositol synthase
phosphatidylinositol synthase
CDP-diacylglycerol-inositol 3-phosphatidyltransferase
PI synthase
PtdIns synthase
CDP-diacylglycerol-inositol 3-phosphatidyltransferase|PI synthase|PtdIns synthase|phosphatidylinositol synthase
CDP-diacylglycerol--inositol 3-phosphatidyltransferase
OTTHUMP00000162985
hCG_21626
Aliases
PIS, CDIPT, MGC1328, PIS1
GeneSRCAP
domino homolog 1
Swi2/Snf2-related ATPase homolog, domino homolog 1
Snf2-related CBP activator protein|Swi2/Snf2-related ATPase homolog, domino homolog 1|domino homolog 1|domino homolog 2|helicase SRCAP
Snf2-related CBP activator protein
Snf2-related CBP activator protein|Swi2/Snf2-related ATPase homolog, domino homolog 1|domino homolog 1
helicase SRCAP
domino homolog 2
hCG_1999643
OTTHUMP00000163226|OTTHUMP00000208671|Snf2-related CBP activator protein|Swi2/Snf2-related ATPase homolog, domino homolog 1|domino homolog 1|domino homolog 2|helicase SRCAP
OTTHUMP00000208671
OTTHUMP00000163226
OTTHUMP00000208671|Snf2-related CBP activator protein|Swi2/Snf2-related ATPase homolog, domino homolog 1|domino homolog 1|domino homolog 2|helicase SRCAP
Aliases
KIAA0309, FLJ44499, EAF1, SRCAP, DOMO1, SWR1, FLHS
GeneCORO1A
hCG_1770704
OTTHUMP00000163017
OTTHUMP00000163017|clipin-A|coronin-1|coronin-1A|coronin-like protein A|coronin-like protein p57|tryptophan aspartate-containing coat protein
coronin-1
coronin-like protein A
coronin, actin-binding protein, 1A
coronin-like protein p57
coronin, actin-binding protein, 1A|coronin, actin-binding, 1A|coronin-1
coronin-1A
clipin-A
coronin, actin-binding, 1A
tryptophan aspartate-containing coat protein
clipin-A|coronin, actin-binding protein, 1A|coronin, actin-binding, 1A|coronin-1|coronin-1A|coronin-like protein A|coronin-like protein p57|tryptophan aspartate-containing coat protein
clipin-A|coronin-1|coronin-1A|coronin-like protein A|coronin-like protein p57|tryptophan aspartate-containing coat protein
Aliases
IMD8, FLJ41407, TACO, MGC117380, CLIPINA, CORO1A, CLABP, p57, HCORO1
GeneSEPHS2
selenide, water dikinase 2|selenide,water dikinase 2|selenium donor protein 2|selenophosphate synthase
selenium donor protein 2
selenophosphate synthase 2
selenide,water dikinase 2|selenium donor protein 2|selenophosphate synthase
selenide, water dikinase 2|selenide,water dikinase 2|selenium donor protein 2|selenophosphate synthase 2
selenide,water dikinase 2
selenide, water dikinase 2
selenophosphate synthase
hCG_1747654
OTTHUMP00000045871|selenide, water dikinase 2|selenium donor protein 2|selenophosphate synthase 2
OTTHUMP00000045871
OTTHUMP00000045871|selenide, water dikinase 2|selenide,water dikinase 2|selenium donor protein 2|selenophosphate synthase 2
Aliases
SPS2, SEPHS2, SPS2b
GeneSEZ6L2
OTTHUMP00000162991|OTTHUMP00000162992|seizure 6-like protein 2|type I transmembrane receptor (seizure related protein)|type I transmembrane receptor (seizure-related protein)
type I transmembrane receptor (seizure-related protein)
seizure 6-like protein 2
seizure 6-like protein 2|type I transmembrane receptor (seizure related protein)|type I transmembrane receptor (seizure-related protein)
type I transmembrane receptor (seizure related protein)
type I transmembrane receptor (seizure related protein)|type I transmembrane receptor (seizure-related protein)
hCG_1770721
OTTHUMP00000162991
OTTHUMP00000162992
seizure related 6-like protein 2
Aliases
SEZ6L2, FLJ90517, PSK-1
GenePYCARD
hCG_21146
PYD and CARD domain-containing protein|apoptosis-associated speck-like protein containing a CARD|caspase recruitment domain protein 5|caspase recruitment domain-containing protein 5|hASC|target of methylation-induced silencing 1|target of methylation-induced silencing-1
caspase recruitment domain-containing protein 5
target of methylation-induced silencing-1
apoptosis-associated speck-like protein containing a CARD|caspase recruitment domain protein 5|target of methylation-induced silencing-1
apoptosis-associated speck-like protein containing a CARD
hASC
caspase recruitment domain protein 5
target of methylation-induced silencing 1
PYD and CARD domain-containing protein
PYD and CARD domain-containing protein|apoptosis-associated speck-like protein containing a CARD|caspase recruitment domain protein 5|caspase recruitment domain-containing protein 5|target of methylation-induced silencing 1
OTTHUMP00000163239|OTTHUMP00000163240|PYD and CARD domain-containing protein|apoptosis-associated speck-like protein containing a CARD|caspase recruitment domain protein 5|caspase recruitment domain-containing protein 5|target of methylation-induced silencing 1
OTTHUMP00000163240
OTTHUMP00000163239
Aliases
PYCARD, TMS-1, MGC10332, TMS1, TMS, CARD5, ASC
GeneAHSP
OTTHUMP00000163295|alpha hemoglobin stabilising protein|alpha-hemoglobin-stabilizing protein|erythroid associated factor|erythroid differentiation associated factor|erythroid differentiation-related factor|erythroid-associated factor
hCG_1772004
alpha hemoglobin stabilising protein
erythroid associated factor
erythroid differentiation-related factor
erythroid-associated factor
alpha hemoglobin stabilising protein|alpha-hemoglobin-stabilizing protein|erythroid associated factor|erythroid differentiation associated factor|erythroid differentiation-related factor|erythroid-associated factor
erythroid differentiation associated factor
alpha hemoglobin stabilising protein|erythroid associated factor|erythroid differentiation associated factor|erythroid differentiation-related factor
alpha-hemoglobin-stabilizing protein
OTTHUMP00000163295
Aliases
ERAF, EDRF, AHSP
GeneFBRS
probable fibrosin-1
hCG_21163
probable fibrosin-1 long transcript protein
fibrogenic lymphokine|fibrosin 1|probable fibrosin-1 long transcript protein
fibrogenic lymphokine
fibrogenic lymphokine|fibrosin 1
fibrosin 1
Aliases
Fibrosin-1, FLJ11618, FBS, FBS1, FBRS
GeneVKORC1
OTTHUMP00000045061|OTTHUMP00000045062|OTTHUMP00000045063|OTTHUMP00000045064|phylloquinone epoxide reductase|vitamin K dependent clotting factors deficiency 2|vitamin K epoxide reductase complex subunit 1|vitamin K1 2,3-epoxide reductase subunit 1|vitamin K1 epoxide reductase (warfarin-sensitive)
hCG_1818183
OTTHUMP00000045064
OTTHUMP00000045061
OTTHUMP00000045063
OTTHUMP00000045062
vitamin K epoxide reductase complex subunit 1
vitamin K1 2,3-epoxide reductase subunit 1
phylloquinone epoxide reductase|vitamin K dependent clotting factors deficiency 2|vitamin K epoxide reductase complex subunit 1|vitamin K1 2,3-epoxide reductase subunit 1|vitamin K1 epoxide reductase (warfarin-sensitive)
vitamin K1 epoxide reductase (warfarin-sensitive)
phylloquinone epoxide reductase
vitamin K dependent clotting factors deficiency 2
phylloquinone epoxide reductase|vitamin K dependent clotting factors deficiency 2|vitamin K1 epoxide reductase (warfarin-sensitive)
Aliases
IMAGE3455200, EDTP308, VKCFD2, FLJ00289, MST134, MST576, MGC2694, VKORC1, VKOR
GeneARMC5
armadillo repeat-containing protein 5
hCG_1772019
Aliases
ARMC5, FLJ00019, FLJ13063, AIMAH2
GeneHSD3B7
OTTHUMP00000163254
3 beta-hydroxy-delta 5-C27-steroid oxidoreductase
cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase
3 beta-hydroxy-delta 5-C27-steroid oxidoreductase|3 beta-hydroxysteroid dehydrogenase type 7|3 beta-hydroxysteroid dehydrogenase type VII|3-beta-HSD VII|3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase|C(27)-3BETA-HSD|c(27) 3-beta-HSD|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase|short chain dehydrogenase/reductase family 11E, member 3
3 beta-hydroxysteroid dehydrogenase type VII
3-beta-HSD VII
c(27) 3-beta-HSD
3 beta-hydroxy-delta 5-C27-steroid oxidoreductase|3 beta-hydroxysteroid dehydrogenase type VII|3-beta-HSD VII|C(27)-3BETA-HSD|short chain dehydrogenase/reductase family 11E, member 3
3 beta-hydroxysteroid dehydrogenase type 7
C(27)-3BETA-HSD
3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase
short chain dehydrogenase/reductase family 11E, member 3
3 beta-hydroxy-delta 5-C27-steroid oxidoreductase|3 beta-hydroxysteroid dehydrogenase type 7|3 beta-hydroxysteroid dehydrogenase type VII|3-beta-HSD VII|3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase|C(27)-3BETA-HSD|OTTHUMP00000163254|c(27) 3-beta-HSD|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase|short chain dehydrogenase/reductase family 11E, member 3
Aliases
CBAS1, HSD3B7, SDR11E3, PFIC4
GeneYPEL3
hCG_1770713
protein yippee-like 3
yippee-like 3
Aliases
MGC10500, YPEL3
GeneKAT8
histone acetyltransferase KAT8
lysine acetyltransferase 8
MOZ, YBF2/SAS3, SAS2 and TIP60 protein 1
MYST-1
histone acetyltransferase MYST1
MOZ, YBF2/SAS3, SAS2 and TIP60 protein 1|MYST-1|histone acetyltransferase MYST1|ortholog of Drosophila males absent on the first (MOF)|probable histone acetyltransferase MYST1
MOZ, YBF2/SAS3, SAS2 and TIP60 protein 1|histone acetyltransferase MYST1|ortholog of Drosophila males absent on the first (MOF)
probable histone acetyltransferase MYST1
ortholog of Drosophila males absent on the first (MOF)
K(lysine) acetyltransferase 8|MOZ, YBF2/SAS3, SAS2 and TIP60 protein 1|MYST-1|histone acetyltransferase MYST1|ortholog of Drosophila males absent on the first (MOF)|probable histone acetyltransferase MYST1
K(lysine) acetyltransferase 8
hCG_21154
OTTHUMP00000163246
OTTHUMP00000236628
MYST histone acetyltransferase 1
Aliases
hMOF, FLJ14040, MOF, KAT8, MYST1, ZC2HC8
GeneORAI3
hCG_21162
protein orai-3|transmembrane protein 142C
transmembrane protein 142C
protein orai-3
OTTHUMP00000163245
OTTHUMP00000163245|protein orai-3|transmembrane protein 142C
Aliases
MGC13024, TMEM142C, ORAI3
GeneSTX1B
syntaxin-1B1
syntaxin-1B2
FP17469|syntaxin 1B1|syntaxin 1B2|syntaxin-1B|syntaxin-1B1|syntaxin-1B2
FP17469
syntaxin 1B2
syntaxin 1B1
syntaxin-1B
FP17469|syntaxin 1B1|syntaxin 1B2
hCG_21165
OTTHUMP00000163224
FP17469|OTTHUMP00000163224|syntaxin 1B1|syntaxin 1B2|syntaxin-1B|syntaxin-1B1|syntaxin-1B2
Aliases
STX1B1, STX1B2, STX1B, GEFSP9
GeneZNF48
OTTHUMP00000163249|zinc finger protein 553
hCG_1747650
OTTHUMP00000235936
OTTHUMP00000235935
OTTHUMP00000163249
zinc finger protein 553
Aliases
MGC43952, ZNF48, ZNF553, FLJ31751, DKFZp762K013
GeneKCTD13
potassium channel tetramerisation domain containing 13
BTB/POZ domain-containing protein KCTD13
BTB/POZ domain-containing protein KCTD13|TNFAIP1-like protein|polymerase delta-interacting protein 1
polymerase delta-interacting protein 1
TNFAIP1-like protein
TNFAIP1-like|polymerase delta-interacting protein 1
TNFAIP1-like
BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1
hCG_1770720
BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1|BTB/POZ domain-containing protein KCTD13|TNFAIP1-like protein|polymerase delta-interacting protein 1
BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1|BTB/POZ domain-containing protein KCTD13|OTTHUMP00000163000|TNFAIP1-like protein|polymerase delta-interacting protein 1
OTTHUMP00000163000
Aliases
POLDIP1, PDIP1, FKSG86, KCTD13, BACURD1, hBACURD1
GeneASPHD1
hCG_1791248
aspartate beta-hydroxylase domain-containing protein 1
OTTHUMP00000163001
Aliases
ASPHD1
GenePYDC1
hCG_1647187
pyrin domain containing 1
pyrin-domain containing protein 1
PAAD-only protein 1
PAAD-only protein
PAAD-only protein 1|pyrin domain containing 1|pyrin domain-containing protein 1|pyrin-domain containing protein 1|pyrin-only protein 1
PAAD-only protein|pyrin domain containing 1|pyrin-domain containing protein 1|pyrin-only protein 1
pyrin-only protein 1
pyrin domain-containing protein 1
OTTHUMP00000163243|PAAD-only protein 1|pyrin domain containing 1|pyrin domain-containing protein 1|pyrin-domain containing protein 1|pyrin-only protein 1
OTTHUMP00000163243
Aliases
ASC2, PYDC1, PYC1, POP1
GeneINO80E
hCG_1770728
OTTHUMP00000162994|coiled-coil domain containing 95|coiled-coil domain-containing protein 95
OTTHUMP00000162994
coiled-coil domain containing 95|coiled-coil domain-containing protein 95
coiled-coil domain-containing protein 95
coiled-coil domain containing 95
Aliases
FLJ00079, CCDC95, INO80E, FLJ90652
GeneZNF843
Aliases
ZNF843, MGC46336
GenePRSS53
polyserase 3
EDTP308|OTTHUMP00000045060|polyserase 3|polyserase-3|polyserine protease 3|serine protease 53
serine protease 53
EDTP308|polyserase 3|polyserase-3|polyserine protease 3|serine protease 53
OTTHUMP00000045060
EDTP308|polyserase 3|polyserase-3|polyserine protease 3
EDTP308|polyserase-3|polyserine protease 3
EDTP308
polyserine protease 3
polyserase-3
Aliases
POL3S, FLJ00289, UNQ308, PRSS53
GeneTRIM72
hCG_2042789
mitsugumin-53|tripartite motif-containing protein 72
tripartite motif-containing protein 72
mitsugumin-53
mitsugumin 53
tripartite motif-containing 72
HGNC:HGNC:32671}
TRIM72 {ECO:0000312
mitsugumin-53|tripartite motif-containing 72|tripartite motif-containing protein 72
Aliases
MG53, TRIM72
GeneSLX1A
OTTHUMP00000045748
GIY-YIG domain-containing protein 1|OTTHUMP00000045748|structure-specific endonuclease subunit SLX1
GIY-YIG domain containing 1|GIY-YIG domain-containing protein 1|structure-specific endonuclease subunit SLX1
GIY-YIG domain-containing protein 1
GIY-YIG domain-containing protein 1|structure-specific endonuclease subunit SLX1
structure-specific endonuclease subunit SLX1
structure-specific endonuclease subunit SLX1 {ECO:0000255
SLX1A {ECO:0000255
GIY-YIG domain-containing protein 1 {ECO:0000255
SLX1B {ECO:0000255
HAMAP-Rule:MF_03100}
Aliases
SLX1A, GIYD1, GIYD2, SLX1B
SNPrs2305883
SNPrs11646194
SNPrs12935192
SNPrs35487696
SNPrs61997235
SNPrs71151458
SNPrs74822732
SNPrs78393745
SNPrs112352746
SNPrs115562374
GeneSLX1A-SULT1A3
Aliases
SLX1A-SULT1A3, FLJ16185, MGC117469, MGC23115, FLJ16248, FLJ40067, FLJ37450
SNPrs142971224
SNPrs144723423
SNPrs147952422
SNPrs150458589
SNPrs181444572
SNPrs181851578
SNPrs184155588
SNPrs184215588
SNPrs184244583
SNPrs184642579
SNPrs188460581
SNPrs188672579
SNPrs190881586
SNPrs192542569
GeneTMEM265
uncharacterized protein LOC100862671
Aliases
TMEM265, KIAA0309, MGC166919, IFITMD8
SNPrs200161221
SNPrs200956284
SNPrs372806326
SNPrs373436543
SNPrs374444160
SNPrs375677719
Chromosome
16
Position
29,820,394 - 29,848,039 (27,646bp)
Orientation
+
Chromosome
16
Position
29,858,356 - 29,863,288 (4,933bp)
Orientation
-
Chromosome
16
Position
29,871,159 - 29,899,264 (28,106bp)
Orientation
-
Chromosome
16
Position
29,900,826 - 29,919,864 (19,039bp)
Orientation
+
Chromosome
16
Position
29,906,336 - 29,926,224 (19,889bp)
Orientation
-
Chromosome
16
Position
29,973,867 - 29,992,261 (18,395bp)
Orientation
+
Chromosome
16
Position
29,996,164 - 30,005,791 (9,628bp)
Orientation
+
Chromosome
16
Position
30,005,514 - 30,021,291 (15,778bp)
Orientation
-
Chromosome
16
Position
30,053,090 - 30,070,420 (17,331bp)
Orientation
+
Chromosome
16
Position
30,075,976 - 30,085,377 (9,402bp)
Orientation
+
Chromosome
16
Position
30,085,793 - 30,091,937 (6,145bp)
Orientation
-
Chromosome
16
Position
30,092,314 - 30,096,216 (3,903bp)
Orientation
-
Chromosome
16
Position
30,114,105 - 30,123,309 (9,205bp)
Orientation
-
Chromosome
16
Position
30,183,410 - 30,189,076 (5,667bp)
Orientation
+
Chromosome
16
Position
30,193,843 - 30,197,566 (3,724bp)
Orientation
+
Chromosome
16
Position
30,194,433 - 30,204,329 (9,897bp)
Orientation
+
Chromosome
16
Position
30,199,228 - 30,204,329 (5,102bp)
Orientation
+
Chromosome
16
Position
30,350,766 - 30,355,361 (4,596bp)
Orientation
-
Chromosome
16
Position
30,378,133 - 30,382,850 (4,718bp)
Orientation
-
Chromosome
16
Position
30,378,312 - 30,400,108 (21,797bp)
Orientation
+
Chromosome
16
Position
30,443,625 - 30,445,975 (2,351bp)
Orientation
-
Chromosome
16
Position
30,472,662 - 30,523,185 (50,524bp)
Orientation
+
Chromosome
16
Position
30,664,457 - 30,670,810 (6,354bp)
Orientation
+
Chromosome
16
Position
30,699,141 - 30,740,129 (40,989bp)
Orientation
+
Chromosome
16
Position
30,740,191 - 30,745,196 (5,006bp)
Orientation
+
Chromosome
16
Position
30,748,253 - 30,761,176 (12,924bp)
Orientation
+
Chromosome
16
Position
30,761,612 - 30,776,307 (14,696bp)
Orientation
+
Chromosome
16
Position
30,896,607 - 30,903,560 (6,954bp)
Orientation
+
Chromosome
16
Position
30,949,084 - 30,954,938 (5,855bp)
Orientation
+
Chromosome
16
Position
30,957,294 - 30,984,664 (27,371bp)
Orientation
+
Chromosome
16
Position
30,984,668 - 30,989,152 (4,485bp)
Orientation
+
Chromosome
16
Position
30,989,256 - 31,010,508 (21,253bp)
Orientation
-
Chromosome
16
Position
31,033,095 - 31,040,168 (7,074bp)
Orientation
+
Chromosome
16
Position
31,083,424 - 31,088,809 (5,386bp)
Orientation
-
Chromosome
16
Position
31,090,854 - 31,094,955 (4,102bp)
Orientation
-
Chromosome
16
Position
31,108,294 - 31,112,791 (4,498bp)
Orientation
+
Chromosome
16
Position
31,117,664 - 31,131,393 (13,730bp)
Orientation
+
Chromosome
16
Position
31,131,433 - 31,135,830 (4,398bp)
Orientation
-
Chromosome
16
Position
31,180,110 - 31,194,871 (14,762bp)
Orientation
+
Chromosome
16
Position
31,201,486 - 31,202,776 (1,291bp)
Orientation
-
Chromosome
16
Position
31,214,021 - 31,225,189 (11,169bp)
Orientation
+
Chromosome
16
Position
31,215,962 - 31,217,077 (1,116bp)
Orientation
-
Chromosome
16
Position
31,259,967 - 31,332,892 (72,926bp)
Orientation
+
Chromosome
16
Position
31,355,134 - 31,382,997 (27,864bp)
Orientation
+
Chromosome
16
Position
31,393,312 - 31,426,505 (33,194bp)
Orientation
+
Chromosome
16
Position
31,435,564 - 31,443,027 (7,464bp)
Orientation
-
Chromosome
16
Position
31,458,273 - 31,467,167 (8,895bp)
Orientation
+
Chromosome
16
Position
31,472,155 - 31,477,960 (5,806bp)
Orientation
+
Chromosome
16
Position
31,483,118 - 31,490,770 (7,653bp)
Orientation
+
Chromosome
16
Position
31,527,882 - 31,528,804 (923bp)
Orientation
+
Chromosome
16
Position
30,785,860 - 30,785,863 (4bp)
Chromosome
16
Position
31,158,888 - 31,158,888 (1bp)
Chromosome
16
Position
30,485,132 - 30,485,135 (4bp)
Chromosome
16
Position
31,581,451 - 31,581,451 (1bp)
Chromosome
16
Position
31,170,580 - 31,170,580 (1bp)
Chromosome
16
Position
29,927,956 - 29,927,956 (1bp)
Chromosome
16
Position
30,781,692 - 30,781,692 (1bp)
Chromosome
16
Position
31,218,665 - 31,218,665 (1bp)
Chromosome
16
Position
31,163,421 - 31,163,421 (1bp)
Chromosome
16
Position
30,820,404 - 30,820,404 (1bp)
Chromosome
16
Position
29,958,763 - 29,958,763 (1bp)
Chromosome
16
Position
30,604,165 - 30,604,165 (1bp)
Chromosome
16
Position
31,325,140 - 31,325,140 (1bp)
Chromosome
16
Position
31,348,009 - 31,348,009 (1bp)
Chromosome
16
Position
31,440,184 - 31,440,184 (1bp)
Chromosome
16
Position
30,057,872 - 30,057,872 (1bp)
Chromosome
16
Position
30,536,324 - 30,536,324 (1bp)
Chromosome
16
Position
30,652,928 - 30,652,928 (1bp)
Chromosome
16
Position
30,963,277 - 30,963,277 (1bp)
Chromosome
16
Position
30,681,814 - 30,681,814 (1bp)
Chromosome
16
Position
30,896,519 - 30,896,519 (1bp)
Chromosome
16
Position
31,009,092 - 31,009,092 (1bp)
Chromosome
16
Position
31,060,816 - 31,060,816 (1bp)
Chromosome
16
Position
30,662,568 - 30,662,568 (1bp)
Chromosome
16
Position
30,677,423 - 30,677,423 (1bp)
Chromosome
16
Position
29,827,146 - 29,827,146 (1bp)
Chromosome
16
Position
31,237,464 - 31,237,464 (1bp)
Chromosome
16
Position
30,124,094 - 30,124,094 (1bp)
Chromosome
16
Position
30,828,276 - 30,828,276 (1bp)
Chromosome
16
Position
30,131,574 - 30,131,574 (1bp)
Symbol
MVP
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
major vault protein
Symbol
CDIPT
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
OTTHUMP00000162985|PI synthase|PtdIns synthase|phosphatidylinositol synthase
Symbol
SEZ6L2
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
seizure related 6 homolog (mouse)-like 2
Symbol
ASPHD1
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
aspartate beta-hydroxylase domain containing 1
Symbol
KCTD13
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
potassium channel tetramerization domain containing 13
Symbol
TAOK2
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
TAO kinase 2
Symbol
INO80E
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
INO80 complex subunit E
Symbol
DOC2A
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
doc2-alpha
Symbol
ALDOA
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
aldolase A, fructose-bisphosphate
Symbol
PPP4C
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
protein phosphatase 4, catalytic subunit|protein phosphatase X|serine/threonine-protein phosphatase 4
Symbol
TBX6
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
T-box 6
Symbol
YPEL3
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
yippee-like 3 (Drosophila)
Symbol
MAPK3
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
mitogen-activated protein kinase 3
Symbol
CORO1A
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
coronin, actin binding protein, 1A
Symbol
SLX1A
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
SLX1 structure-specific endonuclease subunit homolog A (S. cerevisiae)
Symbol
SLX1A-SULT1A3
Evidence code
best RefSeq
Cytogenetic coordinates
16p
Description
SLX1A-SULT1A3 readthrough (NMD candidate)
Symbol
SULT1A3
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3
Symbol
CD2BP2
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
CD2 (cytoplasmic tail) binding protein 2
Symbol
SEPT1
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.1
Description
septin 1
Symbol
ZNF48
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
zinc finger protein 48
Symbol
SEPHS2
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
selenophosphate synthetase 2
Symbol
ITGAL
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)
Symbol
FBRS
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
fibrosin
Symbol
SRCAP
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
Snf2-related CREBBP activator protein
Symbol
TMEM265
Evidence code
best RefSeq
Cytogenetic coordinates
16p
Description
transmembrane protein 265
Symbol
PHKG2
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
phosphorylase kinase, gamma 2 (testis)
Symbol
RNF40
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2-p11.1
Description
ring finger protein 40, E3 ubiquitin protein ligase
Symbol
CTF1
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
cardiotrophin 1
Symbol
ORAI3
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
ORAI calcium release-activated calcium modulator 3
Symbol
SETD1A
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
SET domain containing 1A
Symbol
HSD3B7
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Symbol
STX1B
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
syntaxin 1B
Symbol
STX4
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
syntaxin 4
Symbol
PRSS53
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
protease, serine, 53
Symbol
VKORC1
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
vitamin K epoxide reductase complex, subunit 1
Symbol
BCKDK
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
OTTHUMP00000044999
Symbol
KAT8
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
histone acetyltransferase KAT8
Symbol
PRSS8
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
protease, serine, 8
Symbol
FUS
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
FUS RNA binding protein
Symbol
PYCARD
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
PYD and CARD domain containing
Symbol
TRIM72
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
tripartite motif containing 72, E3 ubiquitin protein ligase
Symbol
PYDC1
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
PYD (pyrin domain) containing 1
Symbol
ITGAM
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
integrin, alpha M (complement component 3 receptor 3 subunit)
Symbol
ITGAX
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
integrin, alpha X (complement component 3 receptor 4 subunit)
Symbol
ITGAD
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
integrin, alpha D
Symbol
ZNF843
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
zinc finger protein 843
Symbol
ARMC5
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
armadillo repeat containing 5
Symbol
TGFB1I1
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
transforming growth factor beta 1 induced transcript 1
Symbol
SLC5A2
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
solute carrier family 5 (sodium/glucose cotransporter), member 2
Symbol
AHSP
Evidence code
best RefSeq
Cytogenetic coordinates
16p11.2
Description
alpha hemoglobin stabilizing protein
refSNP ID: rs147952422
Map Counts: CH: 1, NT: 1, TOT: 1
Locus regions: ZNF629;23361;intron
Not in known transcript
Not in known coding region
Het unknown
Validated
No genotypes available
No submitter links
refSNP ID: rs142971224
Map Counts: CH: 1, NT: 1, TOT: 1
Not in known locus
Not in known transcript
Not in known coding region
Het(S.E.)=0.00(0.03)
Validated
No genotypes available
No submitter links
refSNP ID: rs35487696
Map Counts: CH: 1, NT: 1, TOT: 1
Locus regions: ITGAL;3683;intron
Not in known transcript
Not in known coding region
Het(S.E.)=0.01(0.07)
Success rate is undefined
Genotypes available: link
No submitter links
refSNP ID: rs188460581
Map Counts: CH: 1, NT: 1, TOT: 1
Locus regions: LOC102724018;102724018;intron
Not in known transcript
Not in known coding region
Het(S.E.)=0.00(0.02)
Validated
No genotypes available
No submitter links
refSNP ID: rs184642579
Map Counts: CH: 1, NT: 1, TOT: 1
Not in known locus
Not in known transcript
Not in known coding region
Het(S.E.)=0.00(0.02)
Validated
No genotypes available
No submitter links
refSNP ID: rs144723423
Map Counts: CH: 1, NT: 1, TOT: 1
Locus regions: KCTD13;253980;nearGene-5
Not in known transcript
Not in known coding region
Het(S.E.)=0.00(0.04)
Validated
No genotypes available
No submitter links
refSNP ID: rs200956284
Map Counts: CH: 1, NT: 1, TOT: 1
Locus regions: ZNF629;23361;UTR-3
Transcript regions: NM_001080417;UTR;XM_005255222;UTR
Not in known coding region
Het(S.E.)=0.00(0.02)
Validated
No genotypes available
No submitter links
refSNP ID: rs11646194
Map Counts: CH: 1, NT: 1, TOT: 1
Locus regions: PYDC1;260434;nearGene-5;TRIM72;493829;intron
Not in known transcript
Not in known coding region
Het(S.E.)=0.50(0.00)
Validated
Genotypes available: link
No submitter links
refSNP ID: rs188672579
Map Counts: CH: 1, NT: 1, TOT: 1
Not in known locus
Not in known transcript
Not in known coding region
Het(S.E.)=0.00(0.02)
Validated
No genotypes available
No submitter links
refSNP ID: rs184215588
Map Counts: CH: 1, NT: 1, TOT: 1
Not in known locus
Not in known transcript
Not in known coding region
Het(S.E.)=0.35(0.23)
Validated
No genotypes available
No submitter links
refSNP ID: rs192542569
Map Counts: CH: 1, NT: 1, TOT: 1
Not in known locus
Not in known transcript
Not in known coding region
Het(S.E.)=0.00(0.03)
Validated
No genotypes available
No submitter links
refSNP ID: rs184155588
Map Counts: CH: 1, NT: 1, TOT: 1
Locus regions: ZNF689;115509;UTR-3;ZNF689;115509;ncRNA
Transcript regions: NM_138447;UTR
Not in known coding region
Het(S.E.)=0.00(0.02)
Validated
No genotypes available
No submitter links
refSNP ID: rs181444572
Map Counts: CH: 1, NT: 1, TOT: 1
Locus regions: ITGAM;3684;intron
Not in known transcript
Not in known coding region
Het(S.E.)=0.00(0.02)
Validated
No genotypes available
No submitter links
refSNP ID: rs12935192
Map Counts: CH: 1, NT: 1, TOT: 1
Not in known locus
Not in known transcript
Not in known coding region
Het(S.E.)=0.50(0.03)
Validated
Genotypes available: link
Submitter links available
refSNP ID: rs115562374
Map Counts: CH: 1, NT: 1, TOT: 1
Locus regions: ZNF843;283933;intron
Not in known transcript
Not in known coding region
Het(S.E.)=0.01(0.08)
Validated
No genotypes available
No submitter links
refSNP ID: rs184244583
Map Counts: CH: 1, NT: 1, TOT: 1
Locus regions: ALDOA;226;intron;LOC102723572;102723572;intron
Not in known transcript
Not in known coding region
Het(S.E.)=0.00(0.02)
Validated
No genotypes available
No submitter links
refSNP ID: rs374444160
Map Counts: CH: 1, NT: 1, TOT: 1
Locus regions: ZNF747;65988;nearGene-5
Not in known transcript
Not in known coding region
Het unknown
Success rate is undefined
No genotypes available
No submitter links
refSNP ID: rs200161221
Map Counts: CH: 1, NT: 1, TOT: 1
Locus regions: PRR14;78994;missense
Transcript regions: NM_024031;XM_005255566
Coding regions: NP_076936;missense;XP_005255623;missense
Het(S.E.)=0.00(0.02)
Validated
No genotypes available
No submitter links
refSNP ID: rs2305883
Map Counts: CH: 1, NT: 1, TOT: 1
Locus regions: SETD1A;9739;intron
Not in known transcript
Not in known coding region
Het(S.E.)=0.01(0.05)
Validated
Genotypes available: link
Submitter links available
refSNP ID: rs150458589
Map Counts: CH: 1, NT: 1, TOT: 1
Not in known locus
Not in known transcript
Not in known coding region
Het(S.E.)=0.08(0.18)
Validated
No genotypes available
No submitter links
refSNP ID: rs190881586
Map Counts: CH: 1, NT: 1, TOT: 1
Locus regions: CTF1;1489;nearGene-5
Not in known transcript
Not in known coding region
Het(S.E.)=0.00(0.02)
Validated
No genotypes available
No submitter links
refSNP ID: rs373436543
Map Counts: CH: 1, NT: 1, TOT: 1
Locus regions: STX1B;112755;intron
Not in known transcript
Not in known coding region
Het unknown
Success rate is undefined
No genotypes available
No submitter links
refSNP ID: rs181851578
Map Counts: CH: 1, NT: 1, TOT: 1
Locus regions: ZNF668;79759;nearGene-3
Not in known transcript
Not in known coding region
Het(S.E.)=0.00(0.02)
Validated
No genotypes available
No submitter links
refSNP ID: rs61997235
Map Counts: CH: 1, NT: 1, TOT: 1
Locus regions: FBRS;64319;nearGene-5
Not in known transcript
Not in known coding region
Het(S.E.)=0.01(0.06)
Validated
Genotypes available: link
No submitter links
refSNP ID: rs74822732
Map Counts: CH: 1, NT: 1, TOT: 1
Not in known locus
Not in known transcript
Not in known coding region
Het(S.E.)=0.03(0.11)
Validated
No genotypes available
No submitter links
refSNP ID: rs375677719
Map Counts: CH: 1, NT: 1, TOT: 1
Locus regions: MVP;9961;intron
Not in known transcript
Not in known coding region
Het unknown
Success rate is undefined
No genotypes available
No submitter links
refSNP ID: rs71151458
Map Counts: CH: 1, NT: 1, TOT: 1
Not in known locus
Not in known transcript
Not in known coding region
Het unknown
Validated
Genotypes available: link
Submitter links available
refSNP ID: rs78393745
Map Counts: CH: 1, NT: 1, TOT: 1
Locus regions: MAPK3;5595;nearGene-5
Not in known transcript
Not in known coding region
Het unknown
Success rate is undefined
Genotypes available: link
No submitter links
refSNP ID: rs112352746
Map Counts: CH: 1, NT: 1, TOT: 1
Not in known locus
Not in known transcript
Not in known coding region
Het(S.E.)=0.00(0.04)
Validated
No genotypes available
No submitter links
refSNP ID: rs372806326
Map Counts: CH: 1, NT: 1, TOT: 1
Not in known locus
Not in known transcript
Not in known coding region
Het unknown
Success rate is undefined
No genotypes available
No submitter links

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