AutismKB 2.0

Evidence Details for CPSF7


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Basic Information Top
Gene Symbol:CPSF7 ( FLJ12529,FLJ39024,MGC9315 )
Gene Full Name: cleavage and polyadenylation specific factor 7, 59kDa
Band: 11q12.2
Quick LinksEntrez ID:79869; OMIM: NA; Uniprot ID:CPSF7_HUMAN; ENSEMBL ID: ENSG00000149532; HGNC ID: 30098
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CPSF7|79869|nucleotide
ATGTCAGAAGGAGTGGACTTGATTGATATATATGCTGACGAGGAGTTCAACCAGGACCCAGAGTTCAACAATACAGATCAGATTGACCTGTATGATGATGTGCTG
ACAGCCACCTCACAGCCCTCAGATGACAGAAGCAGCAGCACTGAACCACCTCCTCCTGTTCGCCAGGAGCCATCTCCCAAGCCCAACAACAAGACCCCTGCAATT
CTGTATACCTACAGTGGCCTGCGTAATAGACGAGCTGCCGTTTATGTGGGCAGCTTCTCCTGGTGGACCACAGACCAGCAGCTGATCCAGGTTATTCGCTCTATA
GGAGTCTATGATGTGGTGGAGTTGAAATTTGCAGAGAATCGAGCAAATGGCCAGTCCAAAGGGTATGCTGAGGTGGTGGTAGCCTCTGAAAACTCTGTCCACAAA
TTGTTGGAACTCCTACCAGGGAAAGTTCTTAATGGAGAAAAAGTGGACGTGAGGCCGGCCACCCGGCAGAACCTGTCACAGTTTGAGGCACAGGCTCGGAAACGT
GAGTGTGTCCGAGTCCCAAGAGGGGGAATACCTCCACGGGCCCATTCCCGAGATTCTAGTGATTCTGCTGATGGACGGGCCACACCCTCTGAGAACCTTGTACCC
TCATCTGCTCGTGTGGATAAGCCCCCCAGTGTGCTGCCCTACTTCAATCGTCCTCCTTCGGCCCTTCCCCTGATGGGTCTGCCCCCACCACCAATTCCACCCCCA
CCACCTCTCTCCTCAAGCTTTGGGGTCCCTCCTCCTCCTCCTGGTATCCACTACCAGCATCTCATGCCCCCACCTCCTCGATTACCTCCTCATCTTGCTGTACCT
CCCCCTGGGGCCATCCCACCTGCCCTTCACCTCAATCCAGCCTTCTTCCCCCCACCAAACGCTACAGTGGGGCCTCCACCAGATACTTACATGAAGGCCTCTGCC
CCCTATAACCACCATGGCAGCCGAGATTCGGGCCCTCCACCCTCTACAGTGAGTGAAGCCGAATTTGAAGATATCATGAAGCGAAACAGAGCAATTTCCAGCAGT
GCCATTTCCAAAGCAGTATCTGGAGCCAGTGCAGGGGATTACAGTGACGCAATTGAGACGCTGCTCACAGCCATTGCGGTTATCAAACAGTCCCGGGTTGCCAAT
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>CPSF7|79869|protein
MSEGVDLIDIYADEEFNQDPEFNNTDQIDLYDDVLTATSQPSDDRSSSTEPPPPVRQEPSPKPNNKTPAILYTYSGLRNRRAAVYVGSFSWWTTDQQLIQVIRSI
GVYDVVELKFAENRANGQSKGYAEVVVASENSVHKLLELLPGKVLNGEKVDVRPATRQNLSQFEAQARKRECVRVPRGGIPPRAHSRDSSDSADGRATPSENLVP
SSARVDKPPSVLPYFNRPPSALPLMGLPPPPIPPPPPLSSSFGVPPPPPGIHYQHLMPPPPRLPPHLAVPPPGAIPPALHLNPAFFPPPNATVGPPPDTYMKASA
PYNHHGSRDSGPPPSTVSEAEFEDIMKRNRAISSSAISKAVSGASAGDYSDAIETLLTAIAVIKQSRVANDERCRVLISSLKDCLHGIEAKSYSVGASGSSSRKR
HRSRERSPSRSRESSRRHRDLLHNEDRHDDYFQERNREHERHRDRERDRHH
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 1 (1) 0 (0) 0 (0) 3 (3)
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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top