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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018