AutismKB 2.0

Evidence Details for CPSF2


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Basic Information Top
Gene Symbol:CPSF2 ( CPSF100,KIAA1367 )
Gene Full Name: cleavage and polyadenylation specific factor 2, 100kDa
Band: 14q32.12
Quick LinksEntrez ID:53981; OMIM: 606028; Uniprot ID:CPSF2_HUMAN; ENSEMBL ID: ENSG00000165934; HGNC ID: 2325
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CPSF2|53981|nucleotide
ATGACGTCTATTATCAAATTAACTACCCTTTCTGGGGTCCAAGAAGAATCTGCCCTTTGCTATCTTCTCCAAGTTGATGAGTTTAGATTTTTATTGGACTGTGGC
TGGGATGAGCACTTTTCTATGGATATTATTGATTCCCTGAGGAAGCATGTTCACCAGATTGATGCAGTGCTGTTGTCTCACCCTGATCCTCTCCACCTTGGTGCC
CTCCCGTATGCTGTCGGAAAGTTGGGTCTGAACTGTGCTATCTATGCAACCATTCCTGTTTATAAAATGGGACAGATGTTCATGTATGATCTTTATCAGTCTCGA
CACAATACAGAAGATTTTACACTCTTTACATTAGATGATGTGGATGCAGCCTTTGATAAAATACAGCAGCTAAAATTCTCTCAGATTGTGAATTTGAAAGGTAAA
GGACATGGCCTGTCTATCACACCTCTGCCAGCTGGTCATATGATAGGTGGAACAATATGGAAAATAGTCAAAGATGGAGAAGAAGAAATTGTTTATGCAGTTGAC
TTCAACCACAAGAGGGAGATCCATTTAAATGGATGTTCCCTGGAAATGCTAAGCAGGCCTTCCCTACTTATCACAGATTCATTCAATGCTACATATGTACAGCCT
AGAAGAAAACAGAGAGATGAGCAGCTTCTGACAAATGTCCTGGAAACACTTCGAGGTGATGGAAATGTGTTAATAGCAGTGGACACAGCAGGCAGAGTTTTGGAA
CTTGCTCAACTTCTTGATCAGATTTGGAGGACTAAAGATGCAGGATTGGGTGTTTACTCATTGGCACTCCTAAATAATGTCAGTTACAATGTGGTGGAGTTTTCT
AAGTCCCAGGTAGAATGGATGAGTGATAAATTGATGAGATGTTTTGAAGACAAAAGAAATAATCCGTTTCAGTTTCGCCATCTCTCTTTATGTCATGGTCTTTCT
GACTTGGCCCGTGTACCTAGCCCTAAAGTTGTACTTGCCAGCCAACCTGACCTGGAATGCGGATTTTCAAGGGATCTCTTTATTCAGTGGTGTCAGGACCCTAAA
AACTCAATCATTCTAACCTACAGAACTACTCCTGGGACTTTAGCACGTTTCCTAATTGATAATCCTTCTGAAAAAATTACAGAAATAGAGTTGAGGAAACGTGTG
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>CPSF2|53981|protein
MTSIIKLTTLSGVQEESALCYLLQVDEFRFLLDCGWDEHFSMDIIDSLRKHVHQIDAVLLSHPDPLHLGALPYAVGKLGLNCAIYATIPVYKMGQMFMYDLYQSR
HNTEDFTLFTLDDVDAAFDKIQQLKFSQIVNLKGKGHGLSITPLPAGHMIGGTIWKIVKDGEEEIVYAVDFNHKREIHLNGCSLEMLSRPSLLITDSFNATYVQP
RRKQRDEQLLTNVLETLRGDGNVLIAVDTAGRVLELAQLLDQIWRTKDAGLGVYSLALLNNVSYNVVEFSKSQVEWMSDKLMRCFEDKRNNPFQFRHLSLCHGLS
DLARVPSPKVVLASQPDLECGFSRDLFIQWCQDPKNSIILTYRTTPGTLARFLIDNPSEKITEIELRKRVKLEGKELEEYLEKEKLKKEAAKKLEQSKEADIDSS
DESDIEEDIDQPSAHKTKHDLMMKGEGSRKGSFFKQAKKSYPMFPAPEERIKWDEYGEIIKPEDFLVPELQATEEEKSKLESGLTNGDEPMDQDLSDVPTKCIST
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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 (0) 0 (1) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top