AutismKB 2.0

Evidence Details for CCDC74A


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Basic Information Top
Gene Symbol:CCDC74A ( FLJ40345 )
Gene Full Name: coiled-coil domain containing 74A
Band: 2q21.1
Quick LinksEntrez ID:90557; OMIM: NA; Uniprot ID:CC74A_HUMAN; ENSEMBL ID: ENSG00000163040; HGNC ID: 25197
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CCDC74A|90557|nucleotide
ATGAGCGGTGCGGGGGTGGCGGCTGGGACGCGGCCCCCCAGCTCGCCGACCCCGGGCTCTCGGCGCCGGCGCCAGCGCCCCTCTGTGGGCGTCCAGTCCTTGAGG
CCGCAGAGCCCGCAGCTCAGGCAGAGCGACCCGCAGAAACGGAACCTGGACCTGGAGAAAAGCCTGCAGTTCCTGCAGCAGCAGCACTCGGAGATGCTGGCCAAG
CTCCATGAGGAGATCGAGCATCTGAAGCGGGAAAACAAGGATCTCCATTACAAGCTCATAATGAATCAGACATCACAGAAGAAAGATGGCCCCTCAGGAAACCAC
CTTTCCAGGGCCTCTGCTCCCTTGGGCGCTCGCTGGGTCTGCATCAACGGAGTGTGGGTAGAGCCGGGAGGACCCAGCCCTGCCAGGCTGAAGGAGGGCTCCTCA
CGGACACACAGGCCAGGAGGCAAGCGTGGGCGTCTTGCGGGCGGTAGCGCCGACACTGTGCGCTCTCCTGCAGACAGCCTCTCCATGTCAAGCTTCCAGTCTGTC
AAGTCCATCTCTAATTCAGGCAAGGCCAGGCCCCAGCCCGGCTCCTTCAACAAGCAAGATTCAAAAGCTGACGTCTCCCAGAAGGCGGACCTGGAAGAGGAGCCC
CTACTTCACAACAGCAAGCTGGACAAAGTTCCTGGGGTACAAGGGCAGGCCAGAAAGGAGAAAGCAGAGGCCTCTAATGCAGGAGCTGCCTGTATGGGGAACAGC
CAGCACCAGGGCAGGCAGATGGGGGCGGGGGCACACCCCCCAATGATCCTGCCCCTTCCCCTGCGAAAGCCCACCACACTTAGGCAGTGCGAAGTGCTCATCCGC
GAGCTGTGGAATACCAACCTCCTGCAGACCCAAGAGCTGCGGCACCTCAAGTCCCTCCTGGAAGGGAGCCAGAGGCCCCAGGCAGCCCCGGAGGAAGCTAGCTTT
CCCAGGGACCAAGAAGCCACGCATTTCCCCAAGGTCTCCACCAAGAGCCTCTCCAAGAAATGCCTGAGCCCACCTGTGGCGGAGCGTGCCATCCTGCCCGCACTG
AAGCAGACCCCGAAGAACAACTTTGCCGAGAGGCAGAAGAGGCTGCAGGCAATGCAGAAACGGCGCCTGCATCGCTCAGTGCTTTGA
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>CCDC74A|90557|protein
MSGAGVAAGTRPPSSPTPGSRRRRQRPSVGVQSLRPQSPQLRQSDPQKRNLDLEKSLQFLQQQHSEMLAKLHEEIEHLKRENKDLHYKLIMNQTSQKKDGPSGNH
LSRASAPLGARWVCINGVWVEPGGPSPARLKEGSSRTHRPGGKRGRLAGGSADTVRSPADSLSMSSFQSVKSISNSGKARPQPGSFNKQDSKADVSQKADLEEEP
LLHNSKLDKVPGVQGQARKEKAEASNAGAACMGNSQHQGRQMGAGAHPPMILPLPLRKPTTLRQCEVLIRELWNTNLLQTQELRHLKSLLEGSQRPQAAPEEASF
PRDQEATHFPKVSTKSLSKKCLSPPVAERAILPALKQTPKNNFAERQKRLQAMQKRRLHRSVL

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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 (0) 0 (0) 0 (1) 0 (0) 2 (2)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top