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