AutismKB 2.0

Evidence Details for POLH


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Basic Information Top
Gene Symbol:POLH ( FLJ16395,FLJ21978,RAD30,RAD30A,XP-V,XPV )
Gene Full Name: polymerase (DNA directed), eta
Band: 6p21.1
Quick LinksEntrez ID:5429; OMIM: 603968; Uniprot ID:POLH_HUMAN; ENSEMBL ID: ENSG00000170734; HGNC ID: 9181
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POLH|5429|nucleotide
ATGGCTACTGGACAGGATCGAGTGGTTGCTCTCGTGGACATGGACTGTTTTTTTGTTCAAGTGGAGCAGCGGCAAAATCCTCATTTGAGGAATAAACCTTGTGCA
GTTGTACAGTACAAATCATGGAAGGGTGGTGGAATAATTGCAGTGAGTTATGAAGCTCGTGCATTTGGAGTCACTAGAAGTATGTGGGCAGATGATGCTAAGAAG
TTATGTCCAGATCTTCTACTGGCACAAGTTCGTGAGTCCCGTGGGAAAGCTAACCTCACCAAGTACCGGGAAGCCAGTGTTGAAGTGATGGAGATAATGTCTCGT
TTTGCTGTGATTGAACGTGCCAGCATTGATGAGGCTTACGTAGATCTGACCAGTGCTGTACAAGAGAGACTACAAAAGCTACAAGGTCAGCCTATCTCGGCAGAC
TTGTTGCCAAGCACTTACATTGAAGGGTTGCCCCAAGGCCCTACAACGGCAGAAGAGACTGTTCAGAAAGAGGGGATGCGAAAACAAGGCTTATTTCAATGGCTC
GATTCTCTTCAGATTGATAACCTCACCTCTCCAGACCTGCAGCTCACCGTGGGAGCAGTGATTGTGGAGGAAATGAGAGCAGCCATAGAGAGGGAGACTGGTTTT
CAGTGTTCAGCTGGAATTTCACACAATAAGGTCCTGGCAAAACTGGCCTGTGGACTAAACAAGCCCAACCGCCAAACCCTGGTTTCACATGGGTCAGTCCCACAG
CTCTTCAGCCAAATGCCCATTCGCAAAATCCGTAGTCTTGGAGGAAAGCTAGGGGCCTCTGTCATTGAGATCCTAGGGATAGAATACATGGGTGAACTGACCCAG
TTCACTGAATCCCAGCTCCAGAGTCATTTTGGGGAGAAGAATGGGTCTTGGCTATATGCCATGTGCCGAGGGATTGAACATGATCCAGTTAAACCCAGGCAACTA
CCCAAAACCATTGGCTGTAGTAAGAACTTCCCAGGAAAAACAGCTCTTGCTACTCGGGAACAGGTACAATGGTGGCTGTTGCAATTAGCCCAGGAACTAGAGGAG
AGACTGACTAAAGACCGAAATGATAATGACAGGGTAGCCACCCAGCTGGTTGTGAGCATTCGTGTACAAGGAGACAAACGCCTCAGCAGCCTGCGCCGCTGCTGT
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>POLH|5429|protein
MATGQDRVVALVDMDCFFVQVEQRQNPHLRNKPCAVVQYKSWKGGGIIAVSYEARAFGVTRSMWADDAKKLCPDLLLAQVRESRGKANLTKYREASVEVMEIMSR
FAVIERASIDEAYVDLTSAVQERLQKLQGQPISADLLPSTYIEGLPQGPTTAEETVQKEGMRKQGLFQWLDSLQIDNLTSPDLQLTVGAVIVEEMRAAIERETGF
QCSAGISHNKVLAKLACGLNKPNRQTLVSHGSVPQLFSQMPIRKIRSLGGKLGASVIEILGIEYMGELTQFTESQLQSHFGEKNGSWLYAMCRGIEHDPVKPRQL
PKTIGCSKNFPGKTALATREQVQWWLLQLAQELEERLTKDRNDNDRVATQLVVSIRVQGDKRLSSLRRCCALTRYDAHKMSHDAFTVIKNCNTSGIQTEWSPPLT
MLFLCATKFSASAPSSSTDITSFLSSDPSSLPKVPVTSSEAKTQGSGPAVTATKKATTSLESFFQKAAERQKVKEASLSSLTAPTQAPMSNSPSKPSLPFQTSQS
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top