AutismKB 2.0

Evidence Details for C5orf42


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Basic Information Top
Gene Symbol:C5orf42 ( DKFZp686K02105,FLJ13231,FLJ21126 )
Gene Full Name: chromosome 5 open reading frame 42
Band: 5p13.2
Quick LinksEntrez ID:65250; OMIM: NA; Uniprot ID:B7ZLV7_HUMAN; ENSEMBL ID: ENSG00000197603; HGNC ID: 25801
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C5orf42|65250|nucleotide
ATGGAGATAAGATTAGAAATCTTGACATCAACAGGTATTAAGCAGAAAAAACCATGGCCACGTGTCTCCTGGTTGGGAAAGGAAAAAGAAGCCGTTTTTCTTTTG
GATGATAAATTCATAAATGAAATTAATTTGCTATCAGGAAAGATAAAGAAGAAAATTCCTAGTCTGCAGCCTTTCTTGAAGGATGTTATTGTCCTAACAACATCC
AGTAATGATGCCTGGCTGGCTGGGGTACTAACTACAGGAGAGCTTTTCCTTTGGAACAAAGATCAAGATTGTTTGAAAACTATACCAATAACTGAAAAGCCTAAG
GAAATGATCAAAGCTACAGTCGCAAGCTCTTTGAGACTGTACTTGTATGTATCTGGAAATGGGAAAAGAATTGTGCTCATAACACCTTCTGGATGCATATTTCTT
TGGGAATATTTGGAATTAAAGAATATCTTATCTTCTAAAAGCCTTTCATTGGCGGGTCGGTGGTCCCAGGTCATACCTGAAGAAGCAGTTCTCTTGCCTTCCACC
GAAGATAAAGAAGCTGTAGTGAATGCTGTTTTTATAAAAAATGAGTTATTTGGAGACTGCTGCCTGTGTTCATTTACTTTTTATTCTGGGGAATGCCTGAAGTTA
ACATTTCTAGCAATTCGGTGGCATGAGAATGTATTTACATCTGTAAGATCATTGCCATACCATGTTCATTGGGCTCAACAAGACTGTCATCTCTGTAGTTTAATT
CCTAAATGTGAATCAGTAAAGTCAAGAGGAGCTCTAATTTCTGCCTTTTCAAGAGATGGCCTTACCCTGGCAGTAACTCTTAATCAGAAAGACCCCAAGGCAACT
CAGGTATTATTTATAAACACACTGAATTTTGTTACTCTCTGTGGTAGCCTTAAAGGATGTAGTAACAAGAGTCCCGTGGTTCCAGCTACACTTATTAGGTCCTAC
TGGGTAGGTGATATCAGCTGGACGCATGATAGTCTTTTTCTGGCTTGTATGTTAAAACGTGGCTCTCTGGTTTTATTGACCTGCCAAGGTGAATTGCTAACATTA
ATTACATTTGGTTGCTCTATAGAATTTGGCCCAGCAGAATTTATTCCTCTTCATCCACTAATAACGTATAGACCACAGCAGTTTACGTTTCAAGATTCAAATAAT
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>C5orf42|65250|protein
MEIRLEILTSTGIKQKKPWPRVSWLGKEKEAVFLLDDKFINEINLLSGKIKKKIPSLQPFLKDVIVLTTSSNDAWLAGVLTTGELFLWNKDQDCLKTIPITEKPK
EMIKATVASSLRLYLYVSGNGKRIVLITPSGCIFLWEYLELKNILSSKSLSLAGRWSQVIPEEAVLLPSTEDKEAVVNAVFIKNELFGDCCLCSFTFYSGECLKL
TFLAIRWHENVFTSVRSLPYHVHWAQQDCHLCSLIPKCESVKSRGALISAFSRDGLTLAVTLNQKDPKATQVLFINTLNFVTLCGSLKGCSNKSPVVPATLIRSY
WVGDISWTHDSLFLACMLKRGSLVLLTCQGELLTLITFGCSIEFGPAEFIPLHPLITYRPQQFTFQDSNNSVDSSASDSDPMRQRFSIKAHSRLPYLVISDGYMV
TTLRFLDSLSPSVHMRSLLLDSTQRLEKIYQSVILSKPKGKGLNLRSLNSLRSSLLEHQGNESSADFTVPKFLQAEETINENAADFQDFEAEETNEGRHFPDNLC
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top