AutismKB 2.0

Evidence Details for POLQ


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Basic Information Top
Gene Symbol:POLQ ( DKFZp781A0112,POLH,PRO0327 )
Gene Full Name: polymerase (DNA directed), theta
Band: 3q13.33
Quick LinksEntrez ID:10721; OMIM: 604419; Uniprot ID:Q59EE4_HUMAN; ENSEMBL ID: ENSG00000051341; HGNC ID: 9186
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POLQ|10721|nucleotide
ATGAATCTTCTGCGTCGGAGTGGGAAACGGCGGCGTTCAGAATCAGGCTCAGATTCGTTCTCGGGAAGCGGCGGTGACAGCAGTGCCAGCCCCCAGTTCCTCTCC
GGGTCCGTGCTGAGCCCGCCGCCCGGCCTTGGTCGCTGCCTGAAGGCCGCAGCTGCAGGAGAATGCAAGCCTACAGTTCCTGACTACGAAAGAGACAAGCTACTA
TTGGCAAACTGGGGACTTCCTAAAGCAGTTCTGGAAAAATACCACAGTTTTGGTGTAAAAAAGATGTTTGAATGGCAGGCAGAGTGCCTTTTGCTTGGACAAGTC
CTGGAAGGAAAGAATTTAGTTTATTCAGCTCCTACAAGTGCTGGGAAGACTCTTGTGGCAGAATTACTTATTTTGAAGCGGGTTTTGGAAATGCGGAAGAAAGCT
TTGTTTATTCTTCCCTTTGTTTCTGTGGCTAAAGAGAAGAAATACTACCTCCAGAGTCTGTTTCAGGAAGTAGGAATAAAAGTAGACGGTTATATGGGCAGCACC
TCTCCATCAAGGCATTTCTCTTCATTGGATATTGCAGTCTGCACAATTGAGAGAGCCAATGGTCTGATCAATCGCCTCATAGAGGAAAATAAGATGGATCTGTTA
GGAATGGTGGTTGTGGATGAATTACATATGCTGGGAGACTCTCACCGAGGGTATCTGCTGGAACTTTTGCTGACCAAGATTTGCTATATTACTCGGAAATCAGCA
TCTTGTCAGGCAGATCTAGCCAGTTCTCTGTCTAATGCTGTGCAAATCGTTGGCATGAGTGCTACCCTTCCTAATTTGGAGCTTGTGGCTTCCTGGTTGAATGCT
GAACTCTACCATACCGACTTTCGCCCTGTACCGCTTTTGGAGTCAGTAAAAGTTGGAAATTCCATATATGACTCTTCAATGAAACTTGTGAGGGAATTTGAGCCC
ATGCTACAAGTGAAGGGAGATGAGGACCATGTTGTTAGTTTATGTTATGAGACGATTTGTGATAACCATTCAGTATTACTTTTTTGTCCATCAAAGAAATGGTGT
GAGAAGCTGGCAGATATCATTGCTCGAGAGTTTTATAATCTACATCATCAAGCTGAGGGATTGGTGAAACCCTCTGAATGCCCACCAGTAATTCTGGAACAAAAA
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>POLQ|10721|protein
MNLLRRSGKRRRSESGSDSFSGSGGDSSASPQFLSGSVLSPPPGLGRCLKAAAAGECKPTVPDYERDKLLLANWGLPKAVLEKYHSFGVKKMFEWQAECLLLGQV
LEGKNLVYSAPTSAGKTLVAELLILKRVLEMRKKALFILPFVSVAKEKKYYLQSLFQEVGIKVDGYMGSTSPSRHFSSLDIAVCTIERANGLINRLIEENKMDLL
GMVVVDELHMLGDSHRGYLLELLLTKICYITRKSASCQADLASSLSNAVQIVGMSATLPNLELVASWLNAELYHTDFRPVPLLESVKVGNSIYDSSMKLVREFEP
MLQVKGDEDHVVSLCYETICDNHSVLLFCPSKKWCEKLADIIAREFYNLHHQAEGLVKPSECPPVILEQKELLEVMDQLRRLPSGLDSVLQKTVPWGVAFHHAGL
TFEERDIIEGAFRQGLIRVLAATSTLSSGVNLPARRVIIRTPIFGGRPLDILTYKQMVGRAGRKGVDTVGESILICKNSEKSKGIALLQGSLKPVRSCLQRREGE
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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) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top