AutismKB 2.0

Evidence Details for PAPOLG


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Basic Information Top
Gene Symbol:PAPOLG ( FLJ11805,FLJ12972,FLJ13482,FLJ14187,MGC133307,MGC133308 )
Gene Full Name: poly(A) polymerase gamma
Band: 2p16.1
Quick LinksEntrez ID:64895; OMIM: NA; Uniprot ID:PAPOG_HUMAN; ENSEMBL ID: ENSG00000115421; HGNC ID: 14982
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PAPOLG|64895|nucleotide
ATGAAAGAGATGTCTGCAAACACCGTGCTGGACAGCCAGCGTCAACAAAAGCATTATGGAATTACCTCCCCAATTAGTTTGGCATCTCCTAAAGAAATTGATCAT
ATTTACACACAGAAATTAATTGACGCCATGAAACCATTTGGAGTGTTTGAAGATGAGGAAGAATTGAACCACAGGCTGGTGGTTCTTGGTAAATTGAACAATTTA
GTAAAAGAATGGATTTCTGATGTCAGCGAGAGTAAGAACCTCCCACCTTCTGTTGTGGCTACTGTTGGTGGTAAAATTTTCACATTTGGATCCTATAGGCTTGGA
GTACACACCAAAGGAGCTGACATTGATGCACTTTGTGTAGCTCCAAGACATGTGGAAAGATCTGATTTTTTTCAGTCTTTTTTTGAAAAATTGAAACATCAAGAT
GGCATTAGAAACTTAAGAGCTGTAGAAGATGCCTTTGTACCTGTTATAAAATTTGAATTTGATGGTATTGAAATTGATCTAGTCTTTGCAAGACTGGCAATACAA
ACCATATCAGATAATTTAGATCTAAGAGACGACTCTCGCCTGAGAAGCCTTGATATAAGGTGTATTCGCAGCTTAAATGGTTGTAGAGTTACTGATGAAATTTTG
CATTTAGTGCCAAATAAAGAAACTTTTAGACTCACCCTAAGAGCTGTCAAATTATGGGCAAAACGACGTGGTATTTATTCCAACATGCTAGGATTCCTTGGTGGT
GTCTCCTGGGCAATGCTAGTTGCAAGAACTTGCCAATTGTATCCAAATGCAGCAGCATCTACTTTAGTTCATAAGTTCTTTTTAGTTTTTTCCAAGTGGGAATGG
CCAAATCCTGTGCTGCTGAAGCAACCAGAAGAAAGCAATTTGAATTTGCCTGTCTGGGATCCTCGGGTAAATCCATCAGATAGGTATCATCTCATGCCCATAATC
ACCCCTGCCTACCCACAACAGAATTCTACGTATAATGTGTCCACATCAACTCGAACAGTAATGGTAGAAGAATTTAAACAAGGTCTTGCAGTCACAGATGAAATT
CTTCAAGGAAAGTCAGATTGGTCCAAACTACTTGAGCCACCGAATTTCTTTCAAAAGTATAGACATTATATAGTATTGACTGCCAGCGCATCAACAGAAGAAAAC
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>PAPOLG|64895|protein
MKEMSANTVLDSQRQQKHYGITSPISLASPKEIDHIYTQKLIDAMKPFGVFEDEEELNHRLVVLGKLNNLVKEWISDVSESKNLPPSVVATVGGKIFTFGSYRLG
VHTKGADIDALCVAPRHVERSDFFQSFFEKLKHQDGIRNLRAVEDAFVPVIKFEFDGIEIDLVFARLAIQTISDNLDLRDDSRLRSLDIRCIRSLNGCRVTDEIL
HLVPNKETFRLTLRAVKLWAKRRGIYSNMLGFLGGVSWAMLVARTCQLYPNAAASTLVHKFFLVFSKWEWPNPVLLKQPEESNLNLPVWDPRVNPSDRYHLMPII
TPAYPQQNSTYNVSTSTRTVMVEEFKQGLAVTDEILQGKSDWSKLLEPPNFFQKYRHYIVLTASASTEENHLEWVGLVESKIRVLVGNLERNEFITLAHVNPQSF
PGNKEHHKDNNYVSMWFLGIIFRRVENAESVNIDLTYDIQSFTDTVYRQANNINMLKEGMKIEATHVKKKQLHHYLPAEILQKKKKQSLSDVNRSSGGLQSKRLS
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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) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 10 (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
Rajcan-Separovic, 2007 - aCGHASD - - - - 1 - 1
Linkage Studies Top