AutismKB 2.0

Evidence Details for POLR2B


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Basic Information Top
Gene Symbol:POLR2B ( POL2RB,RPB2,hRPB140,hsRPB2 )
Gene Full Name: polymerase (RNA) II (DNA directed) polypeptide B, 140kDa
Band: 4q12
Quick LinksEntrez ID:5431; OMIM: 180661; Uniprot ID:RPB2_HUMAN; ENSEMBL ID: ENSG00000047315; HGNC ID: 9188
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POLR2B|5431|nucleotide
ATGTACGACGCGGATGAGGATATGCAATATGATGAGGATGATGATGAAATCACCCCGGATTTGTGGCAAGAAGCATGCTGGATTGTAATCAGTTCCTATTTTGAC
GAGAAAGGCTTGGTTAGACAACAGCTGGATTCTTTTGATGAGTTTATTCAGATGTCTGTTCAAAGAATTGTGGAAGACGCTCCTCCTATAGACCTACAGGCTGAA
GCTCAGCATGCTAGTGGAGAAGTTGAAGAACCGCCACGATATTTGCTGAAGTTTGAACAAATTTATCTTTCCAAGCCTACCCATTGGGAAAGAGATGGTGCTCCT
TCACCAATGATGCCCAATGAAGCTAGATTAAGGAATCTCACGTATTCTGCTCCGCTTTATGTTGATATAACAAAAACAGTCATTAAAGAAGGTGAAGAACAACTT
CAGACTCAGCATCAGAAAACTTTTATAGGAAAAATTCCAATTATGTTGCGGTCAACTTACTGCCTTTTGAATGGCTTGACAGATCGTGATCTTTGTGAGTTAAAT
GAATGCCCTTTGGATCCTGGTGGCTATTTCATTATTAATGGATCAGAAAAGGTTCTGATTGCCCAAGAGAAAATGGCAACAAACACAGTTTATGTGTTTGCCAAA
AAGGATTCTAAATATGCCTACACAGGAGAGTGTAGATCATGTCTTGAGAATTCTTCCCGACCCACCAGTACTATATGGGTTAGCATGCTGGCAAGAGGAGGACAG
GGTGCCAAGAAGAGTGCTATTGGTCAGCGCATTGTGGCAACTCTACCATATATCAAGCAAGAAGTTCCCATCATTATTGTGTTCAGAGCATTAGGTTTTGTGTCC
GACAGAGATATTTTAGAACATATTATTTATGATTTTGAAGATCCAGAGATGATGGAAATGGTTAAACCTTCTCTCGATGAAGCTTTTGTCATCCAAGAACAGAAT
GTTGCACTAAATTTCATTGGTTCACGAGGAGCAAAGCCTGGTGTTACTAAAGAGAAAAGAATTAAATATGCAAAGGAAGTTTTACAAAAAGAAATGCTCCCTCAT
GTTGGTGTCAGTGATTTTTGTGAGACCAAAAAAGCCTATTTCTTGGGATACATGGTTCATAGGTTACTTCTGGCAGCTTTGGGTAGAAGAGAACTAGATGACAGA
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>POLR2B|5431|protein
MYDADEDMQYDEDDDEITPDLWQEACWIVISSYFDEKGLVRQQLDSFDEFIQMSVQRIVEDAPPIDLQAEAQHASGEVEEPPRYLLKFEQIYLSKPTHWERDGAP
SPMMPNEARLRNLTYSAPLYVDITKTVIKEGEEQLQTQHQKTFIGKIPIMLRSTYCLLNGLTDRDLCELNECPLDPGGYFIINGSEKVLIAQEKMATNTVYVFAK
KDSKYAYTGECRSCLENSSRPTSTIWVSMLARGGQGAKKSAIGQRIVATLPYIKQEVPIIIVFRALGFVSDRDILEHIIYDFEDPEMMEMVKPSLDEAFVIQEQN
VALNFIGSRGAKPGVTKEKRIKYAKEVLQKEMLPHVGVSDFCETKKAYFLGYMVHRLLLAALGRRELDDRDHYGNKRLDLAGPLLAFLFRGMFKNLLKEVRIYAQ
KFIDRGKDFNLELAIKTRIISDGLKYSLATGNWGDQKKAHQARAGVSQVLNRLTFASTLSHLRRLNSPIGRDGKLAKPRQLHNTLWGMVCPAETPEGHAVGLVKN
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (2)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top