AutismKB 2.0

Evidence Details for PARP8


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Basic Information Top
Gene Symbol:PARP8 ( FLJ21308,MGC42864,pART16 )
Gene Full Name: poly (ADP-ribose) polymerase family, member 8
Band: 5q11.1
Quick LinksEntrez ID:79668; OMIM: NA; Uniprot ID:PARP8_HUMAN; ENSEMBL ID: ENSG00000151883; HGNC ID: 26124
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PARP8|79668|nucleotide
ATGGGGATGTGTTCAAGGCAAGAGCGAATTCAGAAGGATATCGACGTCGTGATCCAGAAGTCCAGAGCTGAGAAGGACTGCCTGTTTGCAGATTTCAGATACTCT
GACTCCACCTTTACTTTTACCTACGTTGGCGGCCCCAGAAGTGTATCCTACTCAGTACATGTATCTGAAGATTACCCAGATAATACATATGTGTCAAGTTCAGAG
AATGATGAAGATGTGCTAGTTACTACAGAGCCAATACCAGTAATTTTTCATAGAATAGCAACAGAATTAAGAAAAACAAATGACATTAACTGTTGCTTATCCATA
AAATCCAAATTACAAAAGGAAAATGGGGAGGAATCAAGACAGAATAGTACAGTGGAGGAAGATTCTGAAGGTGACAATGATTCCGAAGAATTTTATTACGGAGGG
CAGGTGAACTATGATGGGGAACTGCACAAGCACCCACAACTGGAAGCTGATTTGTCAGCAGTTAGAGAGATATATGGGCCACATGCAGTTTCTCTCAGGGAATAT
GGAGCCATTGATGATGTAGATATTGATCTGCATATCGATGTTAGCTTTCTTGATGAGGAGATTGCTGTGGCTTGGGAAGTAATTCGAACAGAACCTATAATTGTT
CGACTACACTGTTCACTTACACAGTATTTAAATGGCCCAGTGCCCACTGTTGATGTCTTTCAGATTTCCACAAAAGAGCGATTTGGATTGGGACATCAGCTGAAA
AAAATCATGCAGACATTTGTTACACAGCAGTGGAAACAGAGCAAAGAAAAATCCAATTGCCTGCACAATAAAAAGTTGTCAGAGAAGAAAGTGAAGTCTCCCCTG
CATTTATTTTCTACTTTGCGCAGGTCGCCAAGTTATCCTCCCCCTGGTTGTGGCAAAAGCAAATCCAAACTGAAATCTGAGCAGGACGGAATCTCCAAAACGCAT
AAGCTGCTGCGGAGGACTTGTTCCAGCACAGTCAAGACTGATGATGTGTGTGTCACAAAGTCACACAGGACCTTTGGCCGCTCCTTGTCCAGCGATCCCAGGGCG
GAGCAGGCTATGACAGCAATTAAATCGCACAAACTTTTGAACCGTCCTTGCCCTGCAGCTGTTAAGTCAGAGGAATGCCTAACTCTAAAGTCGCATAGACTATTG
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>PARP8|79668|protein
MGMCSRQERIQKDIDVVIQKSRAEKDCLFADFRYSDSTFTFTYVGGPRSVSYSVHVSEDYPDNTYVSSSENDEDVLVTTEPIPVIFHRIATELRKTNDINCCLSI
KSKLQKENGEESRQNSTVEEDSEGDNDSEEFYYGGQVNYDGELHKHPQLEADLSAVREIYGPHAVSLREYGAIDDVDIDLHIDVSFLDEEIAVAWEVIRTEPIIV
RLHCSLTQYLNGPVPTVDVFQISTKERFGLGHQLKKIMQTFVTQQWKQSKEKSNCLHNKKLSEKKVKSPLHLFSTLRRSPSYPPPGCGKSKSKLKSEQDGISKTH
KLLRRTCSSTVKTDDVCVTKSHRTFGRSLSSDPRAEQAMTAIKSHKLLNRPCPAAVKSEECLTLKSHRLLTRSCSGDPRCEHNTNLKPHKLLSRSYSSNLRMEEL
YGLKNHKLLSKSYSSAPKSSKTELFKEPNAEGRRLSLTSGLIGILTPSSSSSSQLAPNGAKCIPVRDRGFLVQTIEFAEQRIPVLNEYCVVCDEPHVFQNGPMLR
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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 (0) 0 (0) 2 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Hadley D, 2014 - GWASASD - - - - 6742 12544 19286
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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Simple Query:


  (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