AutismKB 2.0

Evidence Details for POLR3A


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Basic Information Top
Gene Symbol:POLR3A ( RPC1,RPC155,hRPC155 )
Gene Full Name: polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
Band: 10q22.3
Quick LinksEntrez ID:11128; OMIM: NA; Uniprot ID:RPC1_HUMAN; ENSEMBL ID: ENSG00000148606; HGNC ID: 30074
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POLR3A|11128|nucleotide
ATGGTGAAGGAGCAGTTCCGGGAGACGGATGTGGCCAAGAAAATAAGCCACATCTGTTTTGGAATGAAGTCACCTGAGGAGATGCGCCAGCAGGCGCACATCCAA
GTTGTGAGTAAGAACCTGTACAGCCAGGACAACCAACATGCCCCCTTGCTATATGGGGTGCTCGACCATAGGATGGGTACGAGTGAGAAGGATCGTCCATGTGAA
ACCTGTGGGAAAAACTTGGCTGACTGTCTAGGCCACTATGGGTATATCGACCTGGAGTTGCCGTGTTTTCATGTAGGGTACTTCAGAGCAGTCATAGGCATCTTA
CAGATGATCTGCAAAACCTGCTGCCACATCATGCTGTCCCAAGAGGAGAAGAAGCAGTTTCTGGACTATCTAAAGAGGCCCGGCCTGACCTACCTTCAGAAGCGA
GGACTGAAAAAGAAAATCTCTGACAAGTGCCGGAAGAAAAACATCTGCCATCACTGTGGCGCTTTTAATGGTACCGTAAAGAAGTGTGGACTGCTGAAAATAATT
CATGAGAAATACAAGACCAACAAAAAAGTGGTGGATCCCATTGTATCAAATTTCCTTCAGTCTTTTGAAACAGCCATTGAACATAATAAAGAAGTGGAGCCTCTG
CTGGGAAGGGCACAGGAAAACTTGAATCCCTTAGTAGTTCTGAATTTATTTAAACGAATCCCAGCTGAAGATGTTCCTCTACTTCTGATGAACCCAGAAGCCGGA
AAGCCGTCTGATTTGATTCTCACACGACTTTTGGTGCCTCCTTTGTGTATCAGACCCTCCGTTGTGAGTGATTTGAAGTCTGGCACCAATGAAGATGATCTGACA
ATGAAACTGACAGAAATCATTTTCCTAAACGATGTTATTAAAAAGCATCGGATCTCAGGAGCCAAGACCCAGATGATCATGGAGGACTGGGATTTCCTGCAGCTG
CAGTGTGCCCTCTACATTAACAGTGAGCTCTCGGGCATTCCCCTCAACATGGCACCCAAGAAGTGGACCAGAGGCTTCGTCCAACGCCTGAAGGGAAAACAGGGT
CGATTTAGAGGAAATCTCTCAGGAAAGAGAGTGGATTTTTCTGGCAGAACAGTCATCTCGCCCGACCCCAACCTCCGGATTGATGAGGTAGCTGTGCCAGTTCAT
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>POLR3A|11128|protein
MVKEQFRETDVAKKISHICFGMKSPEEMRQQAHIQVVSKNLYSQDNQHAPLLYGVLDHRMGTSEKDRPCETCGKNLADCLGHYGYIDLELPCFHVGYFRAVIGIL
QMICKTCCHIMLSQEEKKQFLDYLKRPGLTYLQKRGLKKKISDKCRKKNICHHCGAFNGTVKKCGLLKIIHEKYKTNKKVVDPIVSNFLQSFETAIEHNKEVEPL
LGRAQENLNPLVVLNLFKRIPAEDVPLLLMNPEAGKPSDLILTRLLVPPLCIRPSVVSDLKSGTNEDDLTMKLTEIIFLNDVIKKHRISGAKTQMIMEDWDFLQL
QCALYINSELSGIPLNMAPKKWTRGFVQRLKGKQGRFRGNLSGKRVDFSGRTVISPDPNLRIDEVAVPVHVAKILTFPEKVNKANINFLRKLVQNGPEVHPGANF
IQQRHTQMKRFLKYGNREKMAQELKYGDIVERHLIDGDVVLFNRQPSLHKLSIMAHLARVKPHRTFRFNECVCTPYNADFDGDEMNLHLPQTEEAKAEALVLMGT
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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 (0) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top