Evidence Details for POLR3B
Basic Information Top
Gene Symbol: | POLR3B ( C128,DKFZp686B10117,FLJ10388,RPC2 ) |
---|---|
Gene Full Name: | polymerase (RNA) III (DNA directed) polypeptide B |
Band: | 12q23.3 |
Quick Links | Entrez ID:55703; OMIM: NA; Uniprot ID:RPC2_HUMAN; ENSEMBL ID: ENSG00000013503; HGNC ID: 30348 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>POLR3B|55703|nucleotide
ATGAAAGCCAATGAAAAGGTTACAAGTGACGCTGACCCTATGTGGTACTTAAAATATCTTAATATCTATGTTGGGCTTCCTGATGTTGAAGAAAGCTTCAATGTA
ACTAGACCAGTGTCCCCTCATGAGTGCCGTTTGAGAGACATGACATACTCTGCCCCTATTACAGTGGATATTGAATATACCCGAGGCAGCCAGAGGATCATCCGC
AATGCCTTACCTATCGGCAGAATGCCCATAATGCTACGTAGTTCAAACTGTGTTCTTACAGGAAAAACGCCAGCAGAATTTGCCAAACTGAACGAATGTCCCTTA
GATCCAGGTGGCTACTTCATTGTTAAAGGAGTAGAAAAAGTTATTCTTATCCAAGAGCAGCTGTCTAAGAACAGGATCATCGTGGAGGCTGATAGAAAAGGGGCT
GTTGGAGCTTCAGTTACCAGCTCTACCCATGAGAAAAAAAGCAGAACCAATATGGCTGTGAAACAAGGACGATTTTATTTGAGGCATAATACTTTGTCAGAAGAT
ATACCCATTGTCATCATATTTAAGGCCATGGGTGTTGAGAGTGACCAGGAAATTGTGCAGATGATTGGAACAGAGGAGCACGTGATGGCTGCATTTGGGCCCAGT
CTGGAAGAGTGCCAGAAAGCTCAGATTTTCACACAGATGCAGGCATTAAAATATATAGGGAACAAAGTAAGAAGGCAAAGGATGTGGGGAGGTGGACCAAAGAAA
ACCAAAATAGAAGAAGCAAGAGAGCTCCTGGCTTCCACCATTCTGACCCATGTCCCAGTTAAGGAATTCAATTTCCGAGCCAAATGTATCTATACTGCAGTGATG
GTGCGAAGAGTTATTCTGGCCCAAGGAGATAATAAAGTTGACGACAGAGATTATTATGGTAACAAGCGACTGGAATTGGCAGGACAGCTTTTATCTCTTCTTTTT
GAAGACTTGTTCAAAAAATTTAATTCTGAAATGAAAAAGATTGCCGACCAGGTGATTCCTAAGCAAAGAGCAGCCCAGTTTGATGTTGTCAAACACATGCGCCAA
GACCAGATCACCAATGGCATGGTGAATGCTATTTCTACCGGAAATTGGTCTTTAAAGAGATTTAAAATGGACCGCCAGGGTGTAACCCAAGTGCTGTCTCGCTTG
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ATGAAAGCCAATGAAAAGGTTACAAGTGACGCTGACCCTATGTGGTACTTAAAATATCTTAATATCTATGTTGGGCTTCCTGATGTTGAAGAAAGCTTCAATGTA
ACTAGACCAGTGTCCCCTCATGAGTGCCGTTTGAGAGACATGACATACTCTGCCCCTATTACAGTGGATATTGAATATACCCGAGGCAGCCAGAGGATCATCCGC
AATGCCTTACCTATCGGCAGAATGCCCATAATGCTACGTAGTTCAAACTGTGTTCTTACAGGAAAAACGCCAGCAGAATTTGCCAAACTGAACGAATGTCCCTTA
GATCCAGGTGGCTACTTCATTGTTAAAGGAGTAGAAAAAGTTATTCTTATCCAAGAGCAGCTGTCTAAGAACAGGATCATCGTGGAGGCTGATAGAAAAGGGGCT
GTTGGAGCTTCAGTTACCAGCTCTACCCATGAGAAAAAAAGCAGAACCAATATGGCTGTGAAACAAGGACGATTTTATTTGAGGCATAATACTTTGTCAGAAGAT
ATACCCATTGTCATCATATTTAAGGCCATGGGTGTTGAGAGTGACCAGGAAATTGTGCAGATGATTGGAACAGAGGAGCACGTGATGGCTGCATTTGGGCCCAGT
CTGGAAGAGTGCCAGAAAGCTCAGATTTTCACACAGATGCAGGCATTAAAATATATAGGGAACAAAGTAAGAAGGCAAAGGATGTGGGGAGGTGGACCAAAGAAA
ACCAAAATAGAAGAAGCAAGAGAGCTCCTGGCTTCCACCATTCTGACCCATGTCCCAGTTAAGGAATTCAATTTCCGAGCCAAATGTATCTATACTGCAGTGATG
GTGCGAAGAGTTATTCTGGCCCAAGGAGATAATAAAGTTGACGACAGAGATTATTATGGTAACAAGCGACTGGAATTGGCAGGACAGCTTTTATCTCTTCTTTTT
GAAGACTTGTTCAAAAAATTTAATTCTGAAATGAAAAAGATTGCCGACCAGGTGATTCCTAAGCAAAGAGCAGCCCAGTTTGATGTTGTCAAACACATGCGCCAA
GACCAGATCACCAATGGCATGGTGAATGCTATTTCTACCGGAAATTGGTCTTTAAAGAGATTTAAAATGGACCGCCAGGGTGTAACCCAAGTGCTGTCTCGCTTG
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>POLR3B|55703|protein
MKANEKVTSDADPMWYLKYLNIYVGLPDVEESFNVTRPVSPHECRLRDMTYSAPITVDIEYTRGSQRIIRNALPIGRMPIMLRSSNCVLTGKTPAEFAKLNECPL
DPGGYFIVKGVEKVILIQEQLSKNRIIVEADRKGAVGASVTSSTHEKKSRTNMAVKQGRFYLRHNTLSEDIPIVIIFKAMGVESDQEIVQMIGTEEHVMAAFGPS
LEECQKAQIFTQMQALKYIGNKVRRQRMWGGGPKKTKIEEARELLASTILTHVPVKEFNFRAKCIYTAVMVRRVILAQGDNKVDDRDYYGNKRLELAGQLLSLLF
EDLFKKFNSEMKKIADQVIPKQRAAQFDVVKHMRQDQITNGMVNAISTGNWSLKRFKMDRQGVTQVLSRLSYISALGMMTRISSQFEKTRKVSGPRSLQPSQWGM
LCPSDTPEGEACGLVKNLALMTHITTDMEDGPIVKLASNLGVEDVNLLCGEELSYPNVFLVFLNGNILGVIRDHKKLVNTFRLMRRAGYINEFVSISTNLTDRCV
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MKANEKVTSDADPMWYLKYLNIYVGLPDVEESFNVTRPVSPHECRLRDMTYSAPITVDIEYTRGSQRIIRNALPIGRMPIMLRSSNCVLTGKTPAEFAKLNECPL
DPGGYFIVKGVEKVILIQEQLSKNRIIVEADRKGAVGASVTSSTHEKKSRTNMAVKQGRFYLRHNTLSEDIPIVIIFKAMGVESDQEIVQMIGTEEHVMAAFGPS
LEECQKAQIFTQMQALKYIGNKVRRQRMWGGGPKKTKIEEARELLASTILTHVPVKEFNFRAKCIYTAVMVRRVILAQGDNKVDDRDYYGNKRLELAGQLLSLLF
EDLFKKFNSEMKKIADQVIPKQRAAQFDVVKHMRQDQITNGMVNAISTGNWSLKRFKMDRQGVTQVLSRLSYISALGMMTRISSQFEKTRKVSGPRSLQPSQWGM
LCPSDTPEGEACGLVKNLALMTHITTDMEDGPIVKLASNLGVEDVNLLCGEELSYPNVFLVFLNGNILGVIRDHKKLVNTFRLMRRAGYINEFVSISTNLTDRCV
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
---|---|---|---|---|---|---|---|---|---|---|---|
Score (No. of Studies) | No | 0 (0) | 0 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Szatmari, 2007 | Europe, North America | SNP microarray | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Bailey, 1998 | - | microsatellite-based genomic screen | PDD | 99 | - | 99 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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