AutismKB 2.0

Evidence Details for CPSF3


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Basic Information Top
Gene Symbol:CPSF3 ( CPSF,CPSF-73,CPSF73,YSH1 )
Gene Full Name: cleavage and polyadenylation specific factor 3, 73kDa
Band: 2p25.1
Quick LinksEntrez ID:51692; OMIM: 606029; Uniprot ID:CPSF3_HUMAN; ENSEMBL ID: ENSG00000119203; HGNC ID: 2326
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CPSF3|51692|nucleotide
ATGTCTGCGATTCCTGCTGAGGAGAGCGACCAGCTGCTGATCCGACCCCTTGGAGCTGGGCAAGAAGTAGGAAGATCATGTATTATTCTCGAGTTCAAAGGAAGA
AAAATAATGCTCGACTGTGGGATCCACCCTGGCCTAGAAGGAATGGATGCTCTTCCTTATATTGATTTAATTGACCCAGCTGAGATTGATCTCCTATTAATTAGT
CATTTCCATTTGGATCACTGTGGAGCTCTGCCCTGGTTTCTACAGAAGACAAGTTTCAAAGGAAGAACATTTATGACTCATGCCACAAAAGCTATTTATAGATGG
CTTCTTTCTGATTATGTCAAAGTTAGTAACATATCAGCAGACGACATGCTGTATACCGAGACAGATTTGGAAGAAAGCATGGACAAAATTGAAACTATCAACTTT
CATGAAGTTAAGGAAGTTGCGGGAATCAAGTTTTGGTGTTACCATGCAGGTCACGTCCTAGGAGCCGCCATGTTCATGATTGAGATCGCAGGCGTGAAGCTTTTG
TACACTGGTGATTTCTCAAGACAAGAAGATAGGCACTTAATGGCAGCTGAAATTCCTAATATTAAGCCTGATATTCTTATCATTGAATCTACTTATGGGACCCAT
ATCCATGAGAAACGTGAAGAGCGAGAAGCAAGATTCTGTAACACTGTCCACGATATTGTAAACAGAGGAGGCAGGGGTCTCATTCCTGTCTTTGCTCTTGGAAGG
GCTCAGGAGCTGCTCTTGATTCTAGATGAGTACTGGCAGAATCACCCAGAACTACATGACATTCCAATATACTATGCATCATCTTTGGCCAAGAAGTGTATGGCA
GTGTACCAGACATATGTAAATGCCATGAATGACAAAATCCGCAAACAGATCAACATCAATAATCCCTTTGTTTTCAAACACATTAGTAACCTCAAGAGCATGGAT
CATTTTGATGACATTGGTCCCAGTGTTGTAATGGCCTCCCCAGGCATGATGCAAAGTGGCTTATCCAGAGAATTATTTGAAAGCTGGTGTACTGATAAGAGGAAT
GGTGTCATTATAGCGGGATACTGTGTAGAAGGGACACTTGCCAAGCACATCATGTCTGAACCTGAAGAAATCACTACTATGTCTGGACAGAAGTTACCACTGAAA
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>CPSF3|51692|protein
MSAIPAEESDQLLIRPLGAGQEVGRSCIILEFKGRKIMLDCGIHPGLEGMDALPYIDLIDPAEIDLLLISHFHLDHCGALPWFLQKTSFKGRTFMTHATKAIYRW
LLSDYVKVSNISADDMLYTETDLEESMDKIETINFHEVKEVAGIKFWCYHAGHVLGAAMFMIEIAGVKLLYTGDFSRQEDRHLMAAEIPNIKPDILIIESTYGTH
IHEKREEREARFCNTVHDIVNRGGRGLIPVFALGRAQELLLILDEYWQNHPELHDIPIYYASSLAKKCMAVYQTYVNAMNDKIRKQININNPFVFKHISNLKSMD
HFDDIGPSVVMASPGMMQSGLSRELFESWCTDKRNGVIIAGYCVEGTLAKHIMSEPEEITTMSGQKLPLKMSVDYISFSAHTDYQQTSEFIRALKPPHVILVHGE
QNEMARLKAALIREYEDNDEVHIEVHNPRNTEAVTLNFRGEKLAKVMGFLADKKPEQGQRVSGILVKRNFNYHILSPCDLSNYTDLAMSTVKQTQAIPYTGPFNL
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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) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2010 USA SNP-based genomic screenASD 40 - 40 - 192 461 653
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
Krumm N, 2015 2377 1373 77 Excess of rare, inherited truncating mutations in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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