AutismKB 2.0

Evidence Details for POLR3B


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Basic Information Top
Gene Symbol:POLR3B ( C128,DKFZp686B10117,FLJ10388,RPC2 )
Gene Full Name: polymerase (RNA) III (DNA directed) polypeptide B
Band: 12q23.3
Quick LinksEntrez 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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>POLR3B|55703|protein
MKANEKVTSDADPMWYLKYLNIYVGLPDVEESFNVTRPVSPHECRLRDMTYSAPITVDIEYTRGSQRIIRNALPIGRMPIMLRSSNCVLTGKTPAEFAKLNECPL
DPGGYFIVKGVEKVILIQEQLSKNRIIVEADRKGAVGASVTSSTHEKKSRTNMAVKQGRFYLRHNTLSEDIPIVIIFKAMGVESDQEIVQMIGTEEHVMAAFGPS
LEECQKAQIFTQMQALKYIGNKVRRQRMWGGGPKKTKIEEARELLASTILTHVPVKEFNFRAKCIYTAVMVRRVILAQGDNKVDDRDYYGNKRLELAGQLLSLLF
EDLFKKFNSEMKKIADQVIPKQRAAQFDVVKHMRQDQITNGMVNAISTGNWSLKRFKMDRQGVTQVLSRLSYISALGMMTRISSQFEKTRKVSGPRSLQPSQWGM
LCPSDTPEGEACGLVKNLALMTHITTDMEDGPIVKLASNLGVEDVNLLCGEELSYPNVFLVFLNGNILGVIRDHKKLVNTFRLMRRAGYINEFVSISTNLTDRCV
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Evidence summary Top

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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 microarrayASD 1491 - - - - - 0
Linkage Studies Top