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Human genome overview page (Annotation Release 108)
Human genome overview page (Annotation Release 105)
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Region Shown:

Homo sapiens (human)  Annotation Release 108 (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: BCKDHB    [clear]
 Master Map: Phenotype (includes QTLs) Summary of Maps mapsnoptions.gif 
Region Displayed: 78,250K-81,660K bp   Download/View Sequence/Evidence

Summary of Maps:
Map 1: unknown map "snp"
Region Displayed: 0.45-0.48 unknown_units
Map 2: Genes On SequenceTable View
Region Displayed: 78,250K-81,660K bp   Download/View Sequence/Evidence
Total Genes On Chromosome: 3000
Genes Labeled: 33 Total Genes in Region: 33
Map 3: Phenotype (includes QTLs)Table View
Region Displayed: 78,250K-81,660K bp   Download/View Sequence/Evidence
Total Phenotypes On Chromosome: 202
Phenotypes Labeled: 5 Total Phenotypes in Region: 5
Gene BCKDHB
testis secretory sperm-binding protein Li 240mP
branched chain alpha-ketoacid dehydrogenase E1-beta subunit
branched chain keto acid dehydrogenase E1 beta
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
branched-chain alpha-keto acid dehydrogenase E1 component beta chain
BCKDH E1-beta
2-oxoisovalerate dehydrogenase beta subunit|E1b-beta subunit of the branched-chain complex|branched chain alpha-ketoacid dehydrogenase E1-beta subunit|branched chain keto acid dehydrogenase E1 beta|branched-chain alpha-keto acid dehydrogenase E1 component beta chain
2-oxoisovalerate dehydrogenase beta subunit
BCKDE1B
E1b-beta subunit of the branched-chain complex
2-oxoisovalerate dehydrogenase beta subunit|2-oxoisovalerate dehydrogenase subunit beta, mitochondrial|BCKDE1B|BCKDH E1-beta|E1b-beta subunit of the branched-chain complex|branched chain alpha-ketoacid dehydrogenase E1-beta subunit|branched-chain alpha-keto acid dehydrogenase E1 component beta chain
hCG_1817356
OTTHUMP00000018048
OTTHUMP00000018049
2-oxoisovalerate dehydrogenase beta subunit|2-oxoisovalerate dehydrogenase subunit beta, mitochondrial|BCKDE1B|BCKDH E1-beta|E1b-beta subunit of the branched-chain complex|OTTHUMP00000018048|OTTHUMP00000018049|branched chain alpha-ketoacid dehydrogenase E1-beta subunit|branched-chain alpha-keto acid dehydrogenase E1 component beta chain
branched chain keto acid dehydrogenase E1, beta polypeptide
Aliases
dJ279A18.1, BCKDHB, FLJ17880, E1B
Gene DBIP1
diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 1
diazepam binding inhibitor-like 2 (a pseudogene)
diazepam binding inhibitor-like 2 (pseudogene)
Aliases
DBIP1, DBIL2
Gene ELOVL4
3-keto acyl-CoA synthase ELOVL4
very-long-chain 3-oxoacyl-CoA synthase 4
elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4
OTTHUMP00000016776
ELOVL FA elongase 4
3-keto acyl-CoA synthase ELOVL4|OTTHUMP00000016776|Stargardt disease 3 (autosomal dominant)|cancer/testis antigen 118|elongation of very long chain fatty acids protein 4
hCG_401209
very long chain 3-oxoacyl-CoA synthase 4
very long chain 3-ketoacyl-CoA synthase 4
3-keto acyl-CoA synthase ELOVL4|Stargardt disease 3 (autosomal dominant)|cancer/testis antigen 118|elongation of very long chain fatty acids protein 4
cancer/testis antigen 118
Stargardt disease 3 (autosomal dominant)|elongation of very long chain fatty acids-like 4
elongation of very long chain fatty acids-like 4
Stargardt disease 3 (autosomal dominant)|elongation of very long chain fatty acids protein 4
elongation of very long chain fatty acids protein 4
Stargardt disease 3 (autosomal dominant)|cancer/testis antigen 118|elongation of very long chain fatty acids protein 4
Stargardt disease 3 (autosomal dominant)
spinocerebellar ataxia 34
Aliases
ISQMR, SCA34, ADMD, ELOVL4, FLJ17667, CT118, STGD2, FLJ92876, STGD3
Gene TTK
dual specificity protein kinase TTK
phosphotyrosine picked threonine kinase
dual specificity protein kinase
phosphotyrosine picked threonine-protein kinase
cancer/testis antigen 96
monopolar spindle 1-like 1
cancer/testis antigen 96|dual specificity protein kinase TTK|monopolar spindle 1-like 1|phosphotyrosine picked threonine kinase|phosphotyrosine picked threonine-protein kinase
cancer/testis antigen 96|dual specificity protein kinase|monopolar spindle 1-like 1|phosphotyrosine picked threonine kinase
OTTHUMP00000016778|OTTHUMP00000220743|cancer/testis antigen 96|dual specificity protein kinase TTK|monopolar spindle 1-like 1|phosphotyrosine picked threonine kinase|phosphotyrosine picked threonine-protein kinase
hCG_401205
OTTHUMP00000016777
OTTHUMP00000016777|OTTHUMP00000016778|OTTHUMP00000220743|cancer/testis antigen 96|dual specificity protein kinase TTK|monopolar spindle 1-like 1|phosphotyrosine picked threonine kinase|phosphotyrosine picked threonine-protein kinase
monopolar spindle 1 kinase
OTTHUMP00000220743
OTTHUMP00000016778
Aliases
PYT, CT96, MPS1L1, FLJ38280, ESK, MPS1, TTK, MPH1
Gene HMGN3
OTTHUMP00000016773
OTTHUMP00000016772
hCG_401091
TR-interacting protein 7
high mobility group nucleosome-binding domain-containing protein 3
high-mobility group protein HMGN3|thyroid hormone receptor interacting protein 7|thyroid hormone receptor interactor 7
high-mobility group protein HMGN3
thyroid hormone receptor interacting protein 7
TRIP-7
thyroid receptor-interacting protein 7
TR-interacting protein 7|TRIP-7|high mobility group nucleosome-binding domain-containing protein 3|high-mobility group protein HMGN3|thyroid hormone receptor interacting protein 7|thyroid hormone receptor interactor 7|thyroid receptor-interacting protein 7
thyroid hormone receptor interactor 7
OTTHUMP00000016772|OTTHUMP00000016773|TR-interacting protein 7|TRIP-7|high mobility group nucleosome-binding domain-containing protein 3|high-mobility group protein HMGN3|thyroid hormone receptor interacting protein 7|thyroid hormone receptor interactor 7|thyroid receptor-interacting protein 7
Aliases
PNAS-24, PNAS-25, DKFZp686E20226, TRIP7, HMGN3, FLJ42187
Gene PHIP
hCG_32415
DDB1 and CUL4 associated factor 14|IRS-1 PH domain-binding protein|OTTHUMP00000016771|PH-interacting protein|WD repeat-containing protein 11
DDB1 and CUL4 associated factor 14|IRS-1 PH domain-binding protein|PH-interacting protein|WD repeat-containing protein 11
PH-interacting protein
IRS-1 PH domain-binding protein
DDB1 and CUL4 associated factor 14
WD repeat-containing protein 11
OTTHUMP00000016771
Aliases
BRWD2, MGC90216, FLJ45918, ndrp, FLJ20705, DCAF14, WDR11, PHIP
Gene LCAL1
Aliases
onco-lncRNA-27, LCAL1
Gene SH3BGRL2
hCG_401207
OTTHUMP00000016775
fovea-associated SH3 domain-binding protein
OTTHUMP00000016775|SH3 domain-binding glutamic acid-rich-like protein 2|fovea-associated SH3 domain-binding protein
SH3 domain-binding glutamic acid-rich-like protein 2
SH3 domain-binding glutamic acid-rich-like protein 2|fovea-associated SH3 domain-binding protein
Aliases
FLJ90025, SH3BGRL2
Gene LINC01621
uncharacterized protein LOC89758
Aliases
C6orf7, RP1-159G19.1, LINC01621
Gene IRAK1BP1
interleukin-1 receptor-associated kinase 1-binding protein 1
ActA binding protein 3
4921528N06Rik|ActA binding protein 3|interleukin-1 receptor-associated kinase 1-binding protein 1
4921528N06Rik|ActA binding protein 3
4921528N06Rik
4921528N06Rik|ActA binding protein 3|OTTHUMP00000016770|interleukin-1 receptor-associated kinase 1-binding protein 1
IRAK1-binding protein 1
interleukin-1 receptor-associated kinase 1 binding protein 1
hCG_32735
OTTHUMP00000016770
Aliases
SIMPL, MGC138460, AIP70, IRAK1BP1, MGC138458
Gene LCA5
OTTHUMP00000165989
lebercilin
leber congenital amaurosis 5 protein|lebercilin
Lebercilin|leber congenital amaurosis 5 protein|lebercilin
OTTHUMP00000165989|lebercilin
Lebercilin
leber congenital amaurosis 5 protein
Lebercilin|OTTHUMP00000165989|leber congenital amaurosis 5 protein
hCG_401212
Lebercilin|OTTHUMP00000016774|OTTHUMP00000165989|leber congenital amaurosis 5 protein
OTTHUMP00000016774
Leber congenital amaurosis 5
Aliases
C6orf152, LCA5
Gene GAPDHP63
glyceraldehyde-3-phosphate dehydrogenase-like 8, pseudogene
Aliases
GAPDHP63, GAPDL8, GAPDHL8
Gene RPL17P25
Aliases
RPL17_6_718, RPL17P25
Gene LOC643562
Aliases
KIAA1424
Gene LOC648934
Gene TRF-GAA8-1
transfer RNA phenylalanine 13 (anticodon GAA) pseudogene
tRNA-Phe-GAA-8-1
Aliases
TRF-GAA8-1, TRNAF13P
Gene RPL35AP18
Aliases
RPL35AP18, RPL35A_8_717
Gene HMGN3-AS1
Aliases
HMGN3-AS1
Gene LOC100418713
Gene LOC100419073
Gene LOC100422671
Gene LOC100506851
Gene AK4P5
Aliases
AK4P5, KIAA1424
Gene RNA5SP210
RNA, 5S ribosomal 210
Aliases
RN5S210, RNA5SP210
Gene LOC105377865
Gene LOC105377867
Gene LOC105377869
Gene LOC105377871
Gene RPSAP72
Aliases
RPSAP72
Gene LOC107986613
Gene LOC107986614
Gene LOC107986615
Gene LOC107986616
Chromosome
6
Position
79,405,047 - 79,489,704 (84,658bp)
Orientation
+
Chromosome
6
Position
79,436,685 - 79,437,228 (544bp)
Orientation
-
Chromosome
6
Position
79,484,991 - 79,537,430 (52,440bp)
Orientation
-
Chromosome
6
Position
81,622,200 - 81,622,319 (120bp)
Orientation
+
Chromosome
6
Position
79,854,684 - 79,855,635 (952bp)
Orientation
+
Chromosome
6
Position
79,537,561 - 79,703,670 (166.1K)
Orientation
+
Chromosome
6
Position
79,947,380 - 79,949,660 (2,281bp)
Orientation
-
Chromosome
6
Position
79,952,806 - 79,954,082 (1,277bp)
Orientation
-
Chromosome
6
Position
79,862,742 - 79,871,407 (8,666bp)
Orientation
-
Chromosome
6
Position
79,964,215 - 79,964,522 (308bp)
Orientation
+
Chromosome
6
Position
78,934,419 - 79,078,294 (143.9K)
Orientation
-
Chromosome
6
Position
77,925,881 - 78,604,572 (0.7M)
Orientation
-
Chromosome
6
Position
79,914,812 - 79,947,598 (32,787bp)
Orientation
-
Chromosome
6
Position
80,470,071 - 80,470,428 (358bp)
Orientation
-
Chromosome
6
Position
79,201,245 - 79,234,738 (33,494bp)
Orientation
-
Chromosome
6
Position
80,077,729 - 80,078,362 (634bp)
Orientation
-
Chromosome
6
Position
80,373,980 - 80,374,604 (625bp)
Orientation
-
Chromosome
6
Position
78,867,486 - 78,979,411 (111.9K)
Orientation
+
Chromosome
6
Position
80,555,807 - 80,557,189 (1,383bp)
Orientation
-
Chromosome
6
Position
79,406,149 - 79,406,850 (702bp)
Orientation
-
Chromosome
6
Position
79,307,669 - 79,313,384 (5,716bp)
Orientation
-
Chromosome
6
Position
79,067,114 - 79,068,195 (1,082bp)
Orientation
-
Chromosome
6
Position
79,803,583 - 79,812,246 (8,664bp)
Orientation
-
Chromosome
6
Position
79,947,850 - 79,980,046 (32,197bp)
Orientation
+
Chromosome
6
Position
78,958,293 - 78,958,365 (73bp)
Orientation
-
Chromosome
6
Position
80,106,610 - 80,469,088 (362.5K)
Orientation
+
Chromosome
6
Position
80,004,147 - 80,043,577 (39,431bp)
Orientation
+
Chromosome
6
Position
79,233,674 - 79,236,800 (3,127bp)
Orientation
+
Chromosome
6
Position
78,849,291 - 78,867,459 (18,169bp)
Orientation
-
Chromosome
6
Position
80,529,839 - 80,548,695 (18,857bp)
Orientation
-
Chromosome
6
Position
80,063,496 - 80,070,583 (7,088bp)
Orientation
-
Chromosome
6
Position
81,444,789 - 81,550,244 (105.5K)
Orientation
-
Chromosome
6
Position
79,444,040 - 79,447,068 (3,029bp)
Orientation
-
Symbol
LOC100506851
Evidence code
mRNA
Cytogenetic coordinates
6q14.1
Description
uncharacterized LOC100506851
Symbol
DBIP1
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
diazepam binding inhibitor, acyl-CoA binding protein pseudogene 1
Symbol
LCA5
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
LCA5, lebercilin
Symbol
RNA5SP210
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
RNA, 5S ribosomal pseudogene 210
Symbol
LOC100422671
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) pseudogene
Symbol
SH3BGRL2
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
SH3 domain binding glutamate rich protein like 2
Symbol
LOC107986615
Evidence code
mRNA
Cytogenetic coordinates
6q14.1
Description
uncharacterized LOC107986615
Symbol
GAPDHP63
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
glyceraldehyde 3 phosphate dehydrogenase pseudogene 63
Symbol
LOC107986614
Evidence code
mRNA
Cytogenetic coordinates
6q14.1
Description
uncharacterized LOC107986614
Symbol
RPL35AP18
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
ribosomal protein L35a pseudogene 18
Symbol
PHIP
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
pleckstrin homology domain interacting protein
Symbol
LOC105377865
Evidence code
rnaseq
Cytogenetic coordinates
6q14.1
Description
uncharacterized LOC105377865
Symbol
ELOVL4
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
ELOVL fatty acid elongase 4
Symbol
RPSAP72
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
ribosomal protein SA pseudogene 72
Symbol
HMGN3
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
high mobility group nucleosomal binding domain 3
Symbol
AK4P5
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
adenylate kinase 4 pseudogene 5
Symbol
RPL17P25
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
ribosomal protein L17 pseudogene 25
Symbol
IRAK1BP1
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
interleukin 1 receptor associated kinase 1 binding protein 1
Symbol
LOC648934
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
citrate synthase, mitochondrial-like
Symbol
LOC100418713
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
stomatin pseudogene
Symbol
LCAL1
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
lung cancer associated lncRNA 1
Symbol
LOC100419073
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
nucleoporin 155kDa pseudogene
Symbol
LINC01621
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
long intergenic non-protein coding RNA 1621
Symbol
LOC107986616
Evidence code
rnaseq
Cytogenetic coordinates
6q14.1
Description
uncharacterized LOC107986616
Symbol
TRF-GAA8-1
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
transfer RNA-Phe (GAA) 8-1
Symbol
BCKDHB
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
branched chain keto acid dehydrogenase E1 subunit beta
Symbol
TTK
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
TTK protein kinase
Symbol
HMGN3-AS1
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
HMGN3 antisense RNA 1
Symbol
LOC107986613
Evidence code
mRNA
Cytogenetic coordinates
6q14.1
Description
uncharacterized LOC107986613
Symbol
LOC105377869
Evidence code
rnaseq
Cytogenetic coordinates
6q14.1
Description
uncharacterized LOC105377869
Symbol
LOC643562
Evidence code
best RefSeq
Cytogenetic coordinates
6q14.1
Description
Rho GTPase activating protein 21 pseudogene
Symbol
LOC105377871
Evidence code
mRNA
Cytogenetic coordinates
6q14.1
Description
uncharacterized LOC105377871
Symbol
LOC105377867
Evidence code
rnaseq
Cytogenetic coordinates
6q14.1
Description
uncharacterized LOC105377867

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