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