AutismKB 2.0

Evidence Details for PCGF2


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Basic Information Top
Gene Symbol:PCGF2 ( MEL-18,MGC10545,RNF110,ZNF144 )
Gene Full Name: polycomb group ring finger 2
Band: 17q12
Quick LinksEntrez ID:7703; OMIM: 600346; Uniprot ID:PCGF2_HUMAN; ENSEMBL ID: ENSG00000056661; HGNC ID: 12929
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PCGF2|7703|nucleotide
ATGCATCGGACTACACGGATCAAAATCACAGAGCTGAACCCCCACCTCATGTGTGCCCTCTGCGGGGGGTACTTCATCGACGCCACCACTATCGTGGAGTGCCTG
CATTCCTTCTGCAAAACCTGCATCGTGCGCTACCTGGAGACCAACAAATACTGCCCCATGTGTGACGTGCAGGTCCATAAAACCCGGCCGCTGCTGAGCATCAGG
TCTGACAAAACACTTCAAGACATTGTCTACAAATTGGTCCCTGGGCTTTTTAAAGATGAGATGAAACGGCGGCGGGATTTCTATGCAGCGTACCCCCTGACGGAG
GTCCCCAACGGCTCCAATGAGGACCGCGGCGAGGTCTTGGAGCAGGAGAAGGGGGCTCTGAGTGATGATGAGATTGTCAGCCTCTCCATCGAATTCTACGAAGGT
GCCAGGGACCGGGACGAGAAGAAGGGCCCCCTGGAGAATGGGGATGGGGACAAAGAGAAAACAGGGGTGCGCTTCCTGCGATGCCCAGCAGCCATGACCGTCATG
CATCTTGCCAAGTTTCTCCGCAACAAGATGGATGTGCCCAGCAAGTACAAGGTGGAGGTTCTGTACGAGGACGAGCCACTGAAGGAATACTACACCCTCATGGAC
ATCGCCTACATCTACCCCTGGCGGCGGAACGGGCCTCTCCCCCTCAAGTACCGTGTCCAGCCAGCCTGCAAGCGGCTCACCCTAGCCACGGTGCCCACCCCCTCC
GAGGGCACCAACACCAGCGGGGCGTCCGAGTGTGAGTCAGTCAGCGACAAGGCTCCCAGCCCTGCCACCCTGCCAGCCACCTCCTCCTCCCTGCCCAGCCCAGCC
ACCCCATCCCATGGCTCTCCCAGTTCCCATGGGCCTCCAGCCACCCACCCTACCTCCCCCACTCCCCCTTCGACAGCCAGTGGGGCCACCACAGCTGCCAACGGG
GGTAGCTTGAACTGCCTGCAGACACCATCCTCCACCAGCAGGGGGCGCAAGATGACTGTCAACGGCGCTCCCGTGCCCCCCTTAACTTGA

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>PCGF2|7703|protein
MHRTTRIKITELNPHLMCALCGGYFIDATTIVECLHSFCKTCIVRYLETNKYCPMCDVQVHKTRPLLSIRSDKTLQDIVYKLVPGLFKDEMKRRRDFYAAYPLTE
VPNGSNEDRGEVLEQEKGALSDDEIVSLSIEFYEGARDRDEKKGPLENGDGDKEKTGVRFLRCPAAMTVMHLAKFLRNKMDVPSKYKVEVLYEDEPLKEYYTLMD
IAYIYPWRRNGPLPLKYRVQPACKRLTLATVPTPSEGTNTSGASECESVSDKAPSPATLPATSSSLPSPATPSHGSPSSHGPPATHPTSPTPPSTASGATTAANG
GSLNCLQTPSSTSRGRKMTVNGAPVPPLT

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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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
Geisheker MR, 2017 - - 36 Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
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