Homo sapiens complex locus FBL, encoding fibrillarin.
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SUMMARY back to top
RefSeq summary
[FBL] This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [provided by RefSeq].

RefSeq annotates one representative transcript (NM included in AceView variant.a), but Homo sapiens cDNA sequences in GenBank, dbEST, Trace and SRA, filtered against clone rearrangements, coaligned on the genome and clustered in a minimal non-redundant way by the manually supervised AceView program, support at least 10 spliced variants.

AceView synopsis, each blue text links to tables and details
Note that this locus is complex: it appears to produce several proteins with no sequence overlap.
Expression: According to AceView, this gene is expressed at high level, 3.3 times the average gene in this release. The sequence of this gene is defined by 372 GenBank accessions from 346 cDNA clones, some from pancreas (seen 57 times), epithelioid carcinoma (28), t-lymphocytes (20), ovary (18), ductal carcinoma, cell line (16), lung (16), eye (15) and 110 other tissues. We annotate structural defects or features in 3 cDNA clones.
Alternative mRNA variants and regulation: The gene contains 16 distinct introns (15 gt-ag, 1 gc-ag). Transcription produces 11 different mRNAs, 10 alternatively spliced variants and 1 unspliced form. There are 2 probable alternative promotors, 3 non overlapping alternative last exons and 4 validated alternative polyadenylation sites (see the diagram). The mRNAs appear to differ by truncation of the 5' end, truncation of the 3' end, presence or absence of 5 cassette exons, overlapping exons with different boundaries.
Efficacy of translation may be reduced by the presence of a shorter translated product (uORF) initiating at an AUG upstream of the main open reading frame (in variant gAug10).
Function: There are 38 articles specifically referring to this gene in PubMed. Functionally, the gene has been tested for association to diseases (Hypertension, Pulmonary; Leukemia, Myeloid; Liver Neoplasms; Musculoskeletal Diseases; Scleroderma, Systemic), proposed to participate in a pathway (The SARS-coronavirus Life Cycle) and processes (rRNA processing, snoRNA metabolic process, tRNA processing). Proteins are expected to have molecular functions (methyltransferase activity, RNA binding) and to localize in various compartments (cytoplasm, extracellular space, granular component, nucleus, ribonucleoprotein complex). Putative protein interactors have been described (ARRB2, BAK1, C1QBP, CD40, CDK2, DDX5, DDX17, DDX20, DDX56, GEMIN4, MAP3K14, MCRS1, MEPCE, NOP2, PASK, PIN4, PRMT1ANDC19ORF76, PRMT5, PSMB6, RIOK3, RTCD1, SERF1AANDSMN1, SERF1BANDSMN2, SIP1, SNORD3A, SNRPN_, TBC1D17, TUBA3C, TUBB1).
Protein coding potential: The 10 spliced and the unspliced mRNAs putatively encode good proteins, altogether 11 different isoforms (8 complete, 2 COOH complete, 1 partial), some containing Fibrillarin domain [Pfam]; 1 of the 8 complete proteins appears to be secreted.
Isoform FBL.iAug10-unspliced is annotated using as Met a Kozak-compatible a..CTG. start, thereby gaining 92 amino acids N-terminal to the first AUG. Finally proteins from this gene may be modulated by acetylation; di-methylation; methylation; mono-methylation; phosphorylation; ubiquitination, as detailed at PhosphoSite.

Please quote: AceView: a comprehensive cDNA-supported gene and transcripts annotation, Genome Biology 2006, 7(Suppl 1):S12.
Map on chromosome 19, links to other databases and other names
Map: This gene FBL maps on chromosome 19, at 19q13.1 according to Entrez Gene. In AceView, it covers 11.97 kb, from 40337054 to 40325087 (NCBI 37, August 2010), on the reverse strand.
Links to: manual annotations from PhosphoSite, the SNP view, gene overviews from Entrez Gene 2091, GeneCards, expression data from ECgene, UniGene, molecular and other annotations from UCSC, or our GOLD analysis.
The previous AceView annotation is here.
Other names: The gene is also known as FBL, FIB, FLRN, RNU3IP1 or LOC2091, bleychor. It has been described as rRNA 2'-O-methyltransferase fibrillarin, 34-kD nucleolar scleroderma antigen, 34 kDa nucleolar scleroderma antigen, RNA, U3 small nucleolar interacting protein 1.
Closest AceView homologs in other species ?
The closest mouse genes, according to BlastP, are the AceView genes Fbl (e= 10-113), LOC545184 (e= 10-112), 2210038L17RikandTulp4 (e= 10-112), yayoho (e= 10-102).
The closest C.elegans gene, according to BlastP, is the AceView/WormGene fib-1 (e=3 10-87), which may contain interesting functional annotation.
The closest A.thaliana genes, according to BlastP, are the AceView genes FIB1 (e=4 10-91), FIB2 (e=7 10-89), which may contain interesting functional annotation
RNA_seq discoveries back to top
Expression/conservation in primates tissues evaluated by cross-mapping to human. back to top
FBL Gene expression in 15 primates, 16 tissues, from the NHPRTR project in sFPKM BAB SkeletalMuscle WholeBlood CHP Kidney Liver Lung Spleen CMC CMM Cerebellum HUM Brain Colon Heart LymphNode Ovary Testis JMI BoneMarrow MLM OWL PTM RMC RMI Pituitary SQM Thymus MST SMY RTL 12.4 46.3 28.5 17.6 26.6 13.3 24.8 46.3 57.1 24.8 57.1 35.1 131 30.6 65.5 46.3 92.7 140 99.3 185 140 131 70.2 24.8 13.3 23.2 30.6 80.7 70.2 281 61.1 43.2 40.3 13.3 18.8 37.6 35.1 37.6 43.2 114 16.4 16.4 35.1 12.4 18.8 28.5 86.5 75.3 37.6 28.5 24.8 61.1 61.1 65.5 46.3 46.3 140 106 122 16.4 14.3 18.8 53.2 35.1 26.6 35.1 17.6 32.8 17.6 35.1 26.6 15.3 24.8 65.5 80.7 92.7 43.2 61.1 23.2 61.1 49.7 40.3 140 151 61.1 185 99.3 26.6 30.6 24.8 61.1 86.5 21.6 40.3 30.6 53.2 173 40.3 114 92.7 99.3 86.5 80.7 57.1 70.2 151 75.3 199 151 122 28.5 32.8 26.6 86.5 32.8 17.6 20.2 75.3 61.1 37.6 18.8 53.2 17.6 15.3 30.6 32.8 17.6 53.2 70.2 61.1 61.1 28.5 21.6 65.5 35.1 57.1 65.5 32.8 37.6 21.6 10.8 7.64 15.3 10.8 18.8 13.3 46.3 43.2 53.2 11.6 23.2 20.2 15.3 114 140 114 49.7 Expression quantiles None Weak 1 2 3 4 5 6 7 8 10 20 This gene All genes log2 distributions RNA-seq gene expression profile across 16 selected tissues from the Non-Human Primates Reference Transcriptome Resource (link to NHPRTR project).
- Primates: Apes (HUM: Human (Illumina BodyMap 2), CHP: Chimpanzee), Old World monkeys (PTM: Pig-Tailed Macaque, JMI Japanese Macaque, RMI Rhesus Macaque Indian, RMC Rhesus Macaque Chinese, CMM Cynomolgus Macaque Mauritian, CMC Cynomolgus Macaque Chinese, BAB Olive Baboon, SMY Sooty Mangabey); New World monkeys (MST common Marmoset, SQM Squirrel Monkey, OWL Owl Monkey); and Lemurs (MLM Mouse Lemur, RTL Ring-Tailed Lemur).
- The level for significantly expressed genes is color coded in 8 equal sized bins (light to dark green). Light gray is for weak not-accurately measured expression (2 to 8 reads above intergenic background); dark gray for no expression or no sequence conservation (0 read in gene). The plot to the right shows the distribution of measured expression values in all tissues for all genes (blue) and for this gene (green), in Magic index = log2(1000 sFPKM).
You may also examine the strand-specific genome coverage plots on the experimental AceView/Magic hub at UCSC, by tissue or by species. Tracks may be slow to load; please reload if some tracks come up yellow-greenish, and thanks to UCSC for the great work!.
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          Complete gene on genome diagram: back to top
Please choose between the zoomable GIF version., and the HTML5/SVG version.
This diagram shows in true scale the gene on the genome, the mRNAs and the cDNA clones.
Compact gene diagram back to top
Gene FBL 5' 3' encoded on minus strand of chromosome 19 from 40,337,054 to 40,325,087 78730 6277 353975 372933 387136 435018 405899 254718 a [NM] 78730 692 353975 372933 387136 435018 405899 254718 b 78730 70 353975 372933 387136 435018 405899 254718 c 7 353975 372933 387136 435018 405899 254718 d 603 353975 372933 387136 435018 405899 e 78730 171 353975 372933 387136 435018 405899 f 603 18 387136 435018 405899 254718 g 78730 6277 353975 372933 h 2 435018 405899 254718 j i-u 1783 405899 254718 k 1 2kb 0 124 bp exon 124 bp exon 5503 bp [gt-ag] intron 110 GenBank accessions 78620 RNA-seq supporting reads 25075 UHR pooled cells 4037 Brain 2360 Blood 46534 Neuroblastoma 614 Other (also 3177 Primates bodymap) 171 bp exon 101 bp [gt-ag] intron 100 GenBank accessions 6177 RNA-seq supporting reads 2221 UHR pooled cells 307 Brain 600 Blood 2973 Neuroblastoma 76 Other (also 261 Primates bodymap) 102 bp exon 86 bp [gt-ag] intron 235 GenBank accessions 353740 RNA-seq supporting reads 124557 UHR pooled cells 16792 Brain 12129 Blood 198800 Neuroblastoma 1462 Other (also 18676 Primates bodymap) 95 bp exon 1027 bp [gt-ag] intron 258 GenBank accessions 372675 RNA-seq supporting reads 123534 UHR pooled cells 17259 Brain 15467 Blood 215281 Neuroblastoma 1134 Other (also 15234 Primates bodymap) 171 bp exon 1191 bp [gt-ag] intron 249 GenBank accessions 386887 RNA-seq supporting reads 132389 UHR pooled cells 18065 Brain 14164 Blood 221436 Neuroblastoma 833 Other (also 16296 Primates bodymap) 133 bp exon 1042 bp [gt-ag] intron 238 GenBank accessions 434780 RNA-seq supporting reads 148176 UHR pooled cells 20946 Brain 13859 Blood 251181 Neuroblastoma 618 Other (also 22016 Primates bodymap) 113 bp exon 1742 bp [gt-ag] intron 210 GenBank accessions 405689 RNA-seq supporting reads 125309 UHR pooled cells 20026 Brain 15076 Blood 244741 Neuroblastoma 537 Other (also 21909 Primates bodymap) 146 bp exon 105 bp [gt-ag] intron 151 GenBank accessions 254567 RNA-seq supporting reads 83679 UHR pooled cells 12951 Brain 10376 Blood 147271 Neuroblastoma 290 Other (also 12807 Primates bodymap) 116 bp exon 283 accessions, NM_001436.3 some from pancreas (seen 50 times) epithelioid carcinoma (25) lung (16), ductal carcinoma cell line (15), ovary (13) Validated 3' end, 56 accessions 116 bp exon 91 bp exon 91 bp exon 5503 bp [gt-ag] intron 110 GenBank accessions 78620 RNA-seq supporting reads 25075 UHR pooled cells 4037 Brain 2360 Blood 46534 Neuroblastoma 614 Other (also 3177 Primates bodymap) 168 bp exon 104 bp [gt-ag] intron 36 GenBank accessions 656 RNA-seq supporting reads 212 UHR pooled cells 14 Brain 77 Blood 342 Neuroblastoma 11 Other (also 202 Primates bodymap) 102 bp exon 86 bp [gt-ag] intron 235 GenBank accessions 353740 RNA-seq supporting reads 124557 UHR pooled cells 16792 Brain 12129 Blood 198800 Neuroblastoma 1462 Other (also 18676 Primates bodymap) 95 bp exon 1027 bp [gt-ag] intron 258 GenBank accessions 372675 RNA-seq supporting reads 123534 UHR pooled cells 17259 Brain 15467 Blood 215281 Neuroblastoma 1134 Other (also 15234 Primates bodymap) 171 bp exon 1191 bp [gt-ag] intron 249 GenBank accessions 386887 RNA-seq supporting reads 132389 UHR pooled cells 18065 Brain 14164 Blood 221436 Neuroblastoma 833 Other (also 16296 Primates bodymap) 133 bp exon 1042 bp [gt-ag] intron 238 GenBank accessions 434780 RNA-seq supporting reads 148176 UHR pooled cells 20946 Brain 13859 Blood 251181 Neuroblastoma 618 Other (also 22016 Primates bodymap) 113 bp exon 1742 bp [gt-ag] intron 210 GenBank accessions 405689 RNA-seq supporting reads 125309 UHR pooled cells 20026 Brain 15076 Blood 244741 Neuroblastoma 537 Other (also 21909 Primates bodymap) 146 bp exon 105 bp [gt-ag] intron 151 GenBank accessions 254567 RNA-seq supporting reads 83679 UHR pooled cells 12951 Brain 10376 Blood 147271 Neuroblastoma 290 Other (also 12807 Primates bodymap) 105 bp exon 36 accessions, some from burkitt lymphoma (seen 7 times) lymph (7), pancreas (4) eye (3), t-lymphocytes (3) capped 5' end, 1 accession Validated 3' end, 1 accession 105 bp exon 64 bp exon 64 bp exon 5503 bp [gt-ag] intron 110 GenBank accessions 78620 RNA-seq supporting reads 25075 UHR pooled cells 4037 Brain 2360 Blood 46534 Neuroblastoma 614 Other (also 3177 Primates bodymap) 105 bp exon 173 bp [gc-ag] intron 12 GenBank accessions 58 RNA-seq supporting reads 13 UHR pooled cells 3 Brain 1 Blood 36 Neuroblastoma 5 Other (also 1 Primates bodymap) 96 bp exon 86 bp [gt-ag] intron 235 GenBank accessions 353740 RNA-seq supporting reads 124557 UHR pooled cells 16792 Brain 12129 Blood 198800 Neuroblastoma 1462 Other (also 18676 Primates bodymap) 95 bp exon 1027 bp [gt-ag] intron 258 GenBank accessions 372675 RNA-seq supporting reads 123534 UHR pooled cells 17259 Brain 15467 Blood 215281 Neuroblastoma 1134 Other (also 15234 Primates bodymap) 171 bp exon 1191 bp [gt-ag] intron 249 GenBank accessions 386887 RNA-seq supporting reads 132389 UHR pooled cells 18065 Brain 14164 Blood 221436 Neuroblastoma 833 Other (also 16296 Primates bodymap) 133 bp exon 1042 bp [gt-ag] intron 238 GenBank accessions 434780 RNA-seq supporting reads 148176 UHR pooled cells 20946 Brain 13859 Blood 251181 Neuroblastoma 618 Other (also 22016 Primates bodymap) 113 bp exon 1742 bp [gt-ag] intron 210 GenBank accessions 405689 RNA-seq supporting reads 125309 UHR pooled cells 20026 Brain 15076 Blood 244741 Neuroblastoma 537 Other (also 21909 Primates bodymap) 146 bp exon 105 bp [gt-ag] intron 151 GenBank accessions 254567 RNA-seq supporting reads 83679 UHR pooled cells 12951 Brain 10376 Blood 147271 Neuroblastoma 290 Other (also 12807 Primates bodymap) 105 bp exon 12 accessions, some from pancreas (seen 3 times) skin (3), amelanotic melanoma cell line (2), carcinoma cell line (once), ductal carcinoma cell line (once) Validated 3' end, 1 accession 105 bp exon 49 bp exon 212 bp [gt-ag] intron 3 GenBank accessions 4 RNA-seq supporting reads 1 UHR pooled cells 1 Brain 2 Neuroblastoma 48 bp exon 86 bp [gt-ag] intron 235 GenBank accessions 353740 RNA-seq supporting reads 124557 UHR pooled cells 16792 Brain 12129 Blood 198800 Neuroblastoma 1462 Other (also 18676 Primates bodymap) 95 bp exon 1027 bp [gt-ag] intron 258 GenBank accessions 372675 RNA-seq supporting reads 123534 UHR pooled cells 17259 Brain 15467 Blood 215281 Neuroblastoma 1134 Other (also 15234 Primates bodymap) 171 bp exon 1191 bp [gt-ag] intron 249 GenBank accessions 386887 RNA-seq supporting reads 132389 UHR pooled cells 18065 Brain 14164 Blood 221436 Neuroblastoma 833 Other (also 16296 Primates bodymap) 133 bp exon 1042 bp [gt-ag] intron 238 GenBank accessions 434780 RNA-seq supporting reads 148176 UHR pooled cells 20946 Brain 13859 Blood 251181 Neuroblastoma 618 Other (also 22016 Primates bodymap) 113 bp exon 1742 bp [gt-ag] intron 210 GenBank accessions 405689 RNA-seq supporting reads 125309 UHR pooled cells 20026 Brain 15076 Blood 244741 Neuroblastoma 537 Other (also 21909 Primates bodymap) 146 bp exon 105 bp [gt-ag] intron 151 GenBank accessions 254567 RNA-seq supporting reads 83679 UHR pooled cells 12951 Brain 10376 Blood 147271 Neuroblastoma 290 Other (also 12807 Primates bodymap) 69 bp exon 3 accessions, some from uterus (seen 2 times) endometrium, adenocarcinoma cell line (once) leiomyosarcoma (once) t-lymphocytes (once) 69 bp exon 84 bp exon 84 bp exon 5775 bp [gt-ag] intron 5 GenBank accessions 598 RNA-seq supporting reads 341 UHR pooled cells 5 Brain 52 Blood 200 Neuroblastoma (also 57 Primates bodymap) 102 bp exon 86 bp [gt-ag] intron 235 GenBank accessions 353740 RNA-seq supporting reads 124557 UHR pooled cells 16792 Brain 12129 Blood 198800 Neuroblastoma 1462 Other (also 18676 Primates bodymap) 95 bp exon 1027 bp [gt-ag] intron 258 GenBank accessions 372675 RNA-seq supporting reads 123534 UHR pooled cells 17259 Brain 15467 Blood 215281 Neuroblastoma 1134 Other (also 15234 Primates bodymap) 171 bp exon 1191 bp [gt-ag] intron 249 GenBank accessions 386887 RNA-seq supporting reads 132389 UHR pooled cells 18065 Brain 14164 Blood 221436 Neuroblastoma 833 Other (also 16296 Primates bodymap) 133 bp exon 1042 bp [gt-ag] intron 238 GenBank accessions 434780 RNA-seq supporting reads 148176 UHR pooled cells 20946 Brain 13859 Blood 251181 Neuroblastoma 618 Other (also 22016 Primates bodymap) 113 bp exon 1742 bp [gt-ag] intron 210 GenBank accessions 405689 RNA-seq supporting reads 125309 UHR pooled cells 20026 Brain 15076 Blood 244741 Neuroblastoma 537 Other (also 21909 Primates bodymap) 237 bp exon 5 accessions, some from t-lymphocytes (seen 2 times) brain (once), cervix (once) embryonal kidney (once) neuroblastoma, cell line (once) 237 bp exon 52 bp exon 52 bp exon 5503 bp [gt-ag] intron 110 GenBank accessions 78620 RNA-seq supporting reads 25075 UHR pooled cells 4037 Brain 2360 Blood 46534 Neuroblastoma 614 Other (also 3177 Primates bodymap) 60 bp exon 212 bp [gt-ag] intron 3 GenBank accessions 168 RNA-seq supporting reads 56 UHR pooled cells 9 Brain 6 Blood 95 Neuroblastoma 2 Other (also 2 Primates bodymap) 102 bp exon 86 bp [gt-ag] intron 235 GenBank accessions 353740 RNA-seq supporting reads 124557 UHR pooled cells 16792 Brain 12129 Blood 198800 Neuroblastoma 1462 Other (also 18676 Primates bodymap) 95 bp exon 1027 bp [gt-ag] intron 258 GenBank accessions 372675 RNA-seq supporting reads 123534 UHR pooled cells 17259 Brain 15467 Blood 215281 Neuroblastoma 1134 Other (also 15234 Primates bodymap) 171 bp exon 1191 bp [gt-ag] intron 249 GenBank accessions 386887 RNA-seq supporting reads 132389 UHR pooled cells 18065 Brain 14164 Blood 221436 Neuroblastoma 833 Other (also 16296 Primates bodymap) 133 bp exon 1042 bp [gt-ag] intron 238 GenBank accessions 434780 RNA-seq supporting reads 148176 UHR pooled cells 20946 Brain 13859 Blood 251181 Neuroblastoma 618 Other (also 22016 Primates bodymap) 113 bp exon 1742 bp [gt-ag] intron 210 GenBank accessions 405689 RNA-seq supporting reads 125309 UHR pooled cells 20026 Brain 15076 Blood 244741 Neuroblastoma 537 Other (also 21909 Primates bodymap) 3 accessions, some from adenocarcinoma cell line (seen 2 times) ovary (2), ascites (once) stomach (once) 84 bp exon 84 bp exon 84 bp exon 123 bp uORF 5775 bp [gt-ag] intron 5 GenBank accessions 598 RNA-seq supporting reads 341 UHR pooled cells 5 Brain 52 Blood 200 Neuroblastoma (also 57 Primates bodymap) 102 bp exon 123 bp uORF 102 bp exon 1208 bp [gt-ag] intron 1 GenBank accession 17 RNA-seq supporting reads 1 UHR pooled cells 16 Neuroblastoma (also 5 Primates bodymap) 123 bp uORF 171 bp exon 171 bp exon 1191 bp [gt-ag] intron 249 GenBank accessions 386887 RNA-seq supporting reads 132389 UHR pooled cells 18065 Brain 14164 Blood 221436 Neuroblastoma 833 Other (also 16296 Primates bodymap) 133 bp exon 133 bp exon 1042 bp [gt-ag] intron 238 GenBank accessions 434780 RNA-seq supporting reads 148176 UHR pooled cells 20946 Brain 13859 Blood 251181 Neuroblastoma 618 Other (also 22016 Primates bodymap) 113 bp exon 113 bp exon 1742 bp [gt-ag] intron 210 GenBank accessions 405689 RNA-seq supporting reads 125309 UHR pooled cells 20026 Brain 15076 Blood 244741 Neuroblastoma 537 Other (also 21909 Primates bodymap) 146 bp exon 146 bp exon 105 bp [gt-ag] intron 151 GenBank accessions 254567 RNA-seq supporting reads 83679 UHR pooled cells 12951 Brain 10376 Blood 147271 Neuroblastoma 290 Other (also 12807 Primates bodymap) 59 bp exon 59 bp exon 1 accession from t-lymphocytes 59 bp exon 86 bp exon 86 bp exon 5503 bp [gt-ag] intron 110 GenBank accessions 78620 RNA-seq supporting reads 25075 UHR pooled cells 4037 Brain 2360 Blood 46534 Neuroblastoma 614 Other (also 3177 Primates bodymap) 171 bp exon 101 bp [gt-ag] intron 100 GenBank accessions 6177 RNA-seq supporting reads 2221 UHR pooled cells 307 Brain 600 Blood 2973 Neuroblastoma 76 Other (also 261 Primates bodymap) 102 bp exon 86 bp [gt-ag] intron 235 GenBank accessions 353740 RNA-seq supporting reads 124557 UHR pooled cells 16792 Brain 12129 Blood 198800 Neuroblastoma 1462 Other (also 18676 Primates bodymap) 95 bp exon 1027 bp [gt-ag] intron 258 GenBank accessions 372675 RNA-seq supporting reads 123534 UHR pooled cells 17259 Brain 15467 Blood 215281 Neuroblastoma 1134 Other (also 15234 Primates bodymap) 946 bp exon 3 accessions, some from cerebellum (seen once) colon (once), moderately-differentiated adenocarcinoma (once) ovary (once), tumor, 5 pooled (see description) (once) 946 bp exon 136 bp exon 136 bp exon 115 bp [gt-ag] intron 1 GenBank accession 1 RNA-seq supporting reads 1 UHR pooled cells 133 bp exon 1042 bp [gt-ag] intron 238 GenBank accessions 434780 RNA-seq supporting reads 148176 UHR pooled cells 20946 Brain 13859 Blood 251181 Neuroblastoma 618 Other (also 22016 Primates bodymap) 113 bp exon 1742 bp [gt-ag] intron 210 GenBank accessions 405689 RNA-seq supporting reads 125309 UHR pooled cells 20026 Brain 15076 Blood 244741 Neuroblastoma 537 Other (also 21909 Primates bodymap) 146 bp exon 105 bp [gt-ag] intron 151 GenBank accessions 254567 RNA-seq supporting reads 83679 UHR pooled cells 12951 Brain 10376 Blood 147271 Neuroblastoma 290 Other (also 12807 Primates bodymap) 103 bp exon 1 accession from testis 103 bp exon 1023 bp exon 1023 bp exon 5 accessions, some from stomach (seen 2 times) ascites (once), gastric tumor (once) nervous normal (once) synovial membrane (once) 1023 bp exon 90 bp exon 90 bp exon 225 bp [gt-ag] intron 1 GenBank accession 1782 RNA-seq supporting reads 88 UHR pooled cells 120 Brain 3 Blood 1565 Neuroblastoma 6 Other (also 42 Primates bodymap) 113 bp exon 1742 bp [gt-ag] intron 210 GenBank accessions 405689 RNA-seq supporting reads 125309 UHR pooled cells 20026 Brain 15076 Blood 244741 Neuroblastoma 537 Other (also 21909 Primates bodymap) 146 bp exon 105 bp [gt-ag] intron 151 GenBank accessions 254567 RNA-seq supporting reads 83679 UHR pooled cells 12951 Brain 10376 Blood 147271 Neuroblastoma 290 Other (also 12807 Primates bodymap) 109 bp exon 1 accession from melanocyte 109 bp exon Alternative mRNAs are shown aligned from 5' to 3' on a virtual genome where introns have been shrunk to a minimal length. Exon size is proportional to length, intron height reflects the number of cDNAs supporting each intron, the small numbers show the support of the introns in deep sequencing (with details in mouse-over) . Introns of the same color are identical, of different colors are different. 'Good proteins' are pink, partial or not-good proteins are yellow, uORFs are green. 5' cap or3' poly A flags show completeness of the transcript.
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Sequences: click on the numbers to get the DNA back to top
mRNA variant mRNA matching the genome Best predicted protein 5' UTR 3' UTR uORF Upstream sequence Transcription
unit
pre-mRNA		 Downstream sequence
aAug10 1171 bp 321 aa 114 bp 91 bp 2kb possibly including promoter 11968 bp 1kb
bAug10 1124 bp 320 aa 81 bp 80 bp 2kb including Promoter 11924 bp 1kb
cAug10 1028 bp 297 aa 54 bp 80 bp 2kb probably including promoter 11897 bp 1kb
dAug10 824 bp 259 aa 44 bp 2kb 6229 bp 1kb
eAug10 935 bp 257 aa 74 bp 87 bp 2kb probably including promoter 11798 bp 1kb
fAug10 810 bp 256 aa 42 bp 2kb probably including promoter 11613 bp 1kb
gAug10 808 bp 197 aa 180 bp 34 bp 120 bp 2kb probably including promoter 11871 bp 1kb
hAug10 1400 bp 186 aa 76 bp 763 bp 2kb probably including promoter 8117 bp 1kb
iAug10-unspliced 1023 bp 147 aa 577 bp 2kb possibly including promoter 1023 bp 1kb
jAug10 631 bp 139 aa 133 bp 78 bp 2kb possibly including promoter 3635 bp 1kb
kAug10 458 bp 123 aa 84 bp 2kb 2530 bp 1kb

Gene neighbors and Navigator on chromosome 19q13.1 back to top
P MED29 C I R P ZFP36 D C I R P PLEKHG2 C I R P G SUPT5H C I R P TIMM50 C I R P DLL3 D C R P SELV R P R TDGF7 P LGALS13 D C I R P G C R G LGALS17A C R P LGALS14 C R P LEUTX C P PSMC4 C I R P ZNF546 C R P R MAP3K10 C I R P D C I R P PAF1 D C I R P RPS16 I R P EID2B I R P EID2 D C R P CLC D C I R P DYRK1B D C I R P FBL C R P FCGBP C G C G C C R P ZNF780AandZNF780B C R TTC9B C R CNTD2 D C I R P AKT2 R 100kb 0 SAMD4B, 275 accessions 10 variants kiwari, 1 accession MED29, 408 accessions 5 variants ZFP36, 291 accessions 5 variants PLEKHG2, 262 accessions 17 variants LOC723805, 1 accession SUPT5H, 584 accessions 20 variants TIMM50, 541 accessions 20 variants DLL3, 219 accessions, 6 variants SELV, 12 accessions, 3 variants mukera, 1 accession TDGF7, 1 accession LGALS13, 35 accessions 4 variants LOC100129935, 21 accessions 6 variants LOC100289395, 1 accession LGALS17A, 18 accessions 4 variants LGALS14, 45 accessions 4 variants LEUTX, 6 accessions PSMC4, 484 accessions 10 variants ZNF546, 57 accessions 11 variants chysor, 15 accessions MAP3K10, 76 accessions 7 variants barwu, 4 accessions dochor, 1 accession darchor, 1 accession dawchor, 1 accession feechor, 2 accessions korchor, 2 accessions gorchor, 1 accession kerchor, 2 accessions nawchor, 2 accessions bowu, 3 accessions pachor, 2 accessions puchor, 2 accessions pochor, 1 accession ruseybu, 1 accession cheevoy, 1 accession parchor, 1 accession kuwari, 2 accessions foyvo, 1 accession tuchor, 2 accessions kavo, 1 accession tarchor, 1 accession blorjer, 1 accession reeseybu, 2 accessions korvo, 2 accessions teychor, 1 accession vychor, 2 accessions vochor, 1 accession varchor, 1 accession vawchor, 1 accession rerseybu, 1 accession neevo, 1 accession lormee, 1 accession verchor, 1 accession ryvo, 1 accession wachor, 1 accession wychor, 2 accessions soseybu, 6 accessions wochor, 2 accessions werchor, 1 accession zorchor, 1 accession rawvo, 1 accession chuchor, 3 accessions cheechor, 2 accessions bluchor, 3 accessions glojer, 1 accession zavo, 1 accession flychor, 1 accession glychor, 1 accession sorseybu, 2 accessions seymee, 1 accession zyvo, 1 accession zeevo, 1 accession soyseybu, 1 accession klujer, 2 accessions klychor, 1 accession klochor, 1 accession sheevo, 1 accession klorchor, 1 accession plachor, 2 accessions plochor, 2 accessions pleychor, 1 accession teyseybu, 10 accessions jawber, 4 accessions toyseybu, 1 accession vyseybu, 2 accessions shorvoy, 2 accessions voyseybu, 1 accession raneru, 1 accession plujer, 1 accession blavoy, 3 accessions skoyjer, 2 accessions snawchor, 1 accession spachor, 1 accession plajar, 1 accession stuchor, 2 accessions stawchor, 1 accession slarvo, 1 accession bluvoy, 6 accessions swerchor, 1 accession bleymee, 1 accession slarjer, 1 accession garchoy, 1 accession choyzor, 3 accessions shuzor, 4 accessions beyvo, 1 accession borchor, 2 accessions dychor, 2 accessions davo, 1 accession farchor, 1 accession gychor, 1 accession geychor, 8 accessions jeechor, 5 accessions raseybu, 2 accessions dawvo, 1 accession merchor, 1 accession buwu, 1 accession feevo, 1 accession kewari, 1 accession koriru, 4 accessions lymee, 1 accession sawchor, 1 accession tychor, 2 accessions tochor, 2 accessions rarseybu, 1 accession karvo, 1 accession tawchor, 1 accession wusor, 1 accession rawseybu, 2 accessions terchor, 3 accessions lomee, 6 accessions nyvo, 1 accession reyseybu, 2 accessions flerjer, 1 accession glajer, 1 accession veechor, 1 accession kowari, 1 accession rorseybu, 1 accession royseybu, 1 accession voychor, 1 accession weechor, 1 accession zoychor, 1 accession glyjer, 1 accession chochor, 2 accessions chervoy, 3 accessions cheyvoy, 5 accessions sawseybu, 2 accessions raruru, 2 accessions warari, 2 accessions seeseybu, 1 accession blarchor, 1 accession varvo, 1 accession rormee, 1 accession vawvo, 1 accession choyvoy, 1 accession flarchor, 1 accession symee, 1 accession glarjer, 1 accession gluchor, 1 accession glerjer, 1 accession zovo, 1 accession seture, 1 accession tomee, 5 accessions gloychor, 2 accessions glorjer, 3 accessions klyjer, 1 accession klachor, 5 accessions zamee, 2 accessions klerchor, 1 accession kloychor, 1 accession klojer, 1 accession toseybu, 1 accession plychor, 1 accession watore, 1 accession rurari, 1 accession chawtee, 1 accession rerari, 1 accession ratore, 2 accessions, 2 variants terseybu, 1 accession shuvoy, 2 accessions ploychor, 8 accessions skychor, 1 accession blavo, 1 accession vuseybu, 1 accession voseybu, 1 accession varseybu, 1 accession sheyvoy, 7 accessions kloyjer, 1 accession verseybu, 1 accession veyseybu, 2 accessions vorseybu, 1 accession waseybu, 2 accessions wyseybu, 1 accession rorari, 3 accessions shoyvoy, 1 accession woseybu, 1 accession skoychor, 1 accession klorvo, 1 accession pleevo, 2 accessions spawchor, 4 accessions worseybu, 2 accessions spoychor, 1 accession stychor, 1 accession matore, 1 accession stochor, 1 accession starchor, 1 accession zaseybu, 1 accession slyvo, 1 accession mirari, 1 accession stoychor, 1 accession snorvo, 1 accession bachoy, 1 accession jeyber, 1 accession blovoy, 4 accessions zyseybu, 2 accessions spawvo, 1 accession geychoy, 1 accession zoseybu, 5 accessions blawvoy, 2 accessions vasarbo, 3 accessions PAF1, 528 accessions, 7 variants RPS16, 486 accessions 12 variants EID2B, 36 accessions, 2 variants EID2, 109 accessions CLC, 63 accessions, 2 variants DYRK1B, 159 accessions 7 variants FBL, 356 accessions, 11 variants FCGBP, 298 accessions 7 variants zeysor, 1 accession LOC440525, 65 accessions sheevoy, 3 accessions LOC390933, 2 accessions ZNF780AandZNF780B, 211 accessions 19 variants TTC9B, 76 accessions, 2 variants CNTD2, 25 accessions, 5 variants AKT2, 443 accessions, 34 variants deychoy, 10 accessions 3 variants ZOOM IN                D:disease,C:conserved,I:interactions,R:regulation,P:publications         Read more...
Annotated mRNA diagrams back to top
Bibliography:               38 articles in PubMed back to top
? Gene Summary Gene on genome mRNA:.a, .b, .c, .d, .e, .f, .g, .h, .i-u, .j, .k Alternative mRNAs features, proteins, introns, exons, sequences Expression Tissue Function, regulation, related genes DCI

To mine knowledge about the gene, please click the 'Gene Summary' or the 'Function, regulation, related genes ' tab at the top of the page. The 'Gene Summary' page includes all we learnt about the gene, functional annotations of neighboring genes, maps, links to other sites and the bibliography. The 'Function, regulation, related genes ' page includes Diseases (D), Pathways, GO annotations, conserved domains (C), interactions (I) reference into function, and pointers to all genes with the same functional annotation.
To compare alternative variants, their summarized annotations, predicted proteins, introns and exons, or to access any sequence, click the 'Alternative mRNAs features' tab. To see a specific mRNA variant diagram, sequence and annotation, click the variant name in the 'mRNA' tab. To examine expression data from all cDNAs clustered in this gene by AceView, click the 'Expression tissue'.

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