AutismKB 2.0

Evidence Details for C1orf52


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Basic Information Top
Gene Symbol:C1orf52 ( FLJ44982,RP11-234D19.1,gm117 )
Gene Full Name: chromosome 1 open reading frame 52
Band: 1p22.3
Quick LinksEntrez ID:148423; OMIM: NA; Uniprot ID:CA052_HUMAN; ENSEMBL ID: ENSG00000162642; HGNC ID: 24871
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C1orf52|148423|nucleotide
ATGGCAGCGGAGGAGAAGGACCCTCTGAGCTATTTTGCGGCATACGGGAGCAGCAGCTCAGGCTCCTCGGACGAGGAGGATAACATCGAGCCGGAGGAGACGAGT
CGCAGAACCCCGGATCCGGCGAAGTCGGCGGGCGGCTGTAGGAACAAGGCGGAGAAGCGGCTCCCGGGACCTGACGAGCTGTTTAGGAGCGTGACTCGCCCGGCC
TTTCTCTACAATCCGCTCAACAAACAGATAGACTGGGAGAGGCACGTCGTCAAGGCGCCTGAGGAGCCTCCAAAGGAATTCAAAATATGGAAGTCAAATTATGTA
CCACCTCCTGAGACCTACACCACTGAGAAGAAGCCTCCGCCTCCAGAGCTTGACATGGCAATAAAATGGTCTAACATATATGAGGACAATGGTGATGATGCTCCA
CAGAATGCTAAGAAAGCTAGGCTTCTACCAGAAGGGGAGGAGACGTTGGAATCAGATGATGAAAAAGATGAGCATACTTCTAAAAAGCGCAAAGTAGAGCCAGGA
GAACCAGCAAAGAAGAAAAAGTAG





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>C1orf52|148423|protein
MAAEEKDPLSYFAAYGSSSSGSSDEEDNIEPEETSRRTPDPAKSAGGCRNKAEKRLPGPDELFRSVTRPAFLYNPLNKQIDWERHVVKAPEEPPKEFKIWKSNYV
PPPETYTTEKKPPPPELDMAIKWSNIYEDNGDDAPQNAKKARLLPEGEETLESDDEKDEHTSKKRKVEPGEPAKKKK



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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top