AutismKB 2.0

Evidence Details for CHAF1A


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Basic Information Top
Gene Symbol:CHAF1A ( CAF-1,CAF1,CAF1B,CAF1P150,MGC71229,P150 )
Gene Full Name: chromatin assembly factor 1, subunit A (p150)
Band: 19p13.3
Quick LinksEntrez ID:10036; OMIM: 601246; Uniprot ID:CAF1A_HUMAN; ENSEMBL ID: ENSG00000167670; HGNC ID: 1910
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CHAF1A|10036|nucleotide
ATGCTGGAGGAGCTGGAGTGCGGGGCGCCCGGCGCCAGGGGAGCCGCCACAGCCATGGATTGCAAAGATAGACCAGCTTTTCCAGTTAAGAAGTTAATACAAGCC
CGTCTGCCGTTTAAGCGCCTGAATCTTGTCCCAAAGGGGAAAGCCGATGACATGTCAGACGATCAGGGTACTTCTGTGCAAAGTAAAAGCCCCGATTTAGAGGCC
TCTTTGGACACCTTGGAAAACAACTGTCATGTGGGTTCTGACATAGACTTTAGACCGAAACTTGTCAACGGGAAGGGTCCCTTAGATAACTTTTTAAGAAATAGA
ATCGAAACCAGTATTGGCCAGAGCACAGTCATCATTGATTTGACAGAGGACTCGAATGAGCAGCCAGACAGTCTTGTGGACCACAATAAACTAAATTCTGAAGCC
TCTCCCTCCAGGGAGGCAATAAATGGCCAGCGAGAAGACACTGGGGATCAGCAGGGGTTGTTGAAGGCCATTCAGAACGACAAGTTGGCATTTCCTGGAGAGACC
CTTTCAGACATTCCTTGCAAAACAGAGGAGGAGGGTGTTGGCTGTGGAGGTGCAGGGAGGAGAGGCGACTCCCAGGAATGTTCGCCACGGAGCTGCCCGGAGCTG
ACGAGTGGCCCGAGAATGTGCCCCAGAAAGGAGCAGGACAGTTGGAGTGAAGCTGGGGGCATCCTGTTCAAAGGGAAGGTGCCTATGGTGGTCTTGCAGGACATC
TTGGCTGTGAGACCACCGCAAATCAAGTCCCTTCCAGCCACACCCCAAGGCAAGAACATGACCCCTGAGAGTGAGGTGCTGGAATCTTTCCCCGAAGAAGACTCT
GTACTCAGCCATTCGTCCCTGAGCTCTCCCTCTTCCACCAGCTCGCCCGAGGGGCCGCCTGCTCCCCCAAAGCAGCACAGCAGTACCAGTCCCTTCCCCACCTCC
ACGCCCCTCCGCAGAATAACTAAGAAATTCGTCAAAGGCTCTACAGAGAAGAACAAGCTCAGACTGCAAAGAGATCAGGAGCGTCTGGGCAAGCAGCTCAAGTTA
CGTGCAGAAAGGGAAGAAAAGGAGAAGCTGAAAGAGGAGGCCAAGCGGGCCAAGGAGGAGGCCAAGAAGAAGAAGGAGGAAGAGAAGGAGCTTAAGGAAAAGGAG
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>CHAF1A|10036|protein
MLEELECGAPGARGAATAMDCKDRPAFPVKKLIQARLPFKRLNLVPKGKADDMSDDQGTSVQSKSPDLEASLDTLENNCHVGSDIDFRPKLVNGKGPLDNFLRNR
IETSIGQSTVIIDLTEDSNEQPDSLVDHNKLNSEASPSREAINGQREDTGDQQGLLKAIQNDKLAFPGETLSDIPCKTEEEGVGCGGAGRRGDSQECSPRSCPEL
TSGPRMCPRKEQDSWSEAGGILFKGKVPMVVLQDILAVRPPQIKSLPATPQGKNMTPESEVLESFPEEDSVLSHSSLSSPSSTSSPEGPPAPPKQHSSTSPFPTS
TPLRRITKKFVKGSTEKNKLRLQRDQERLGKQLKLRAEREEKEKLKEEAKRAKEEAKKKKEEEKELKEKERREKREKDEKEKAEKQRLKEERRKERQEALEAKLE
EKRKKEEEKRLREEEKRIKAEKAEITRFFQKPKTPQAPKTLAGSCGKFAPFEIKEHMVLAPRRRTAFHPDLCSQLDQLLQQQSGEFSFLKDLKGRQPLRSGPTHV
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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top