AutismKB 2.0

Evidence Details for PARP6


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Basic Information Top
Gene Symbol:PARP6 ( MGC131971,pART17 )
Gene Full Name: poly (ADP-ribose) polymerase family, member 6
Band: 15q23
Quick LinksEntrez ID:56965; OMIM: NA; Uniprot ID:PARP6_HUMAN; ENSEMBL ID: ENSG00000137817; HGNC ID: 26921
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PARP6|56965|nucleotide
ATGGACATCAAAGGCCAGTTCTGGAATGATGACGACTCGGAGGGAGATAATGAATCAGAGGAATTTCTCTATGGCGTTCAGGGGAGCTGTGCAGCTGACCTGTAT
CGACACCCACAGCTTGATGCAGACATTGAAGCCGTGAAGGAGATCTACAGTGAGAACTCTGTATCCATCAGAGAATATGGAACTATCGATGACGTGGACATTGAC
CTCCACATCAACATCAGCTTCCTCGATGAGGAAGTCTCTACAGCCTGGAAGGTCCTCCGGACAGAACCTATTGTGTTGAGGCTGCGATTTTCTCTCTCCCAGTAC
CTAGATGGACCAGAACCATCCATTGAGGTTTTCCAGCCATCAAATAAGGAAGGATTTGGGCTGGGTCTTCAGTTGAAAAAGATCCTGGGTATGTTTACATCCCAA
CAATGGAAACATCTGAGCAATGATTTCTTGAAGACCCAGCAGGAGAAGAGGCACAGTTGGTTCAAGGCAAGTGGTACCATCAAGAAGTTCCGAGCTGGCCTCAGC
ATCTTTTCACCCATCCCCAAGTCTCCCAGTTTCCCTATCATACAGGACTCCATGCTGAAAGGCAAACTAGGTGTACCAGAGCTTCGGGTTGGGCGCCTCATGAAC
CGTTCCATCTCCTGTACCATGAAGAACCCCAAAGTGGAAGTGTTTGGCTACCCTCCCAGCCCCCAGGCAGGTCTCCTGTGCCCTCAGCACGTGGGCCTCCCTCCC
CCAGCACGGACCTCTCCTTTGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGATCATGAAGTATGCAGAACAGAGGATTCCA
ACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGCCAGCTGTCTGTACTCGTGAACTATGCGTTTTCTCCTTC
TACACACTGGGCGTCATGTCTGGAGCTGCAGAGGAGGTGGCCACTGGAGCAGAGGTGGTGGATCTGCTGGTGGCCATGTGTAGGGCAGCTTTAGAGTCCCCTAGA
AAGAGCATCATCTTTGAGCCTTATCCCTCTGTGGTGGACCCCACTGATCCCAAGACTCTGGCCTTTAACCCTAAGAAGAAGAATTATGAGCGGCTTCAGAAAGCT
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>PARP6|56965|protein
MDIKGQFWNDDDSEGDNESEEFLYGVQGSCAADLYRHPQLDADIEAVKEIYSENSVSIREYGTIDDVDIDLHINISFLDEEVSTAWKVLRTEPIVLRLRFSLSQY
LDGPEPSIEVFQPSNKEGFGLGLQLKKILGMFTSQQWKHLSNDFLKTQQEKRHSWFKASGTIKKFRAGLSIFSPIPKSPSFPIIQDSMLKGKLGVPELRVGRLMN
RSISCTMKNPKVEVFGYPPSPQAGLLCPQHVGLPPPARTSPLVSGHCKNIPTLEYGFLVQIMKYAEQRIPTLNEYCVVCDEQHVFQNGSMLKPAVCTRELCVFSF
YTLGVMSGAAEEVATGAEVVDLLVAMCRAALESPRKSIIFEPYPSVVDPTDPKTLAFNPKKKNYERLQKALDSVMSIREMTQGSYLEIKKQMDKLDPLAHPLLQW
IISSNRSHIVKLPLSRLKFMHTSHQFLLLSSPPAKEARFRTAKKLYGSTFAFHGSHIENWHSILRNGLVNASYTKLQLHGAAYGKGIYLSPISSISFGYSGMGKG
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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 (5) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (6)
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
Smith, 2000 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Dong S, 2014 787 787 42 De novo insertions and deletions of predominantly paternal origin are associated with autism spectru
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018