AutismKB 2.0

Evidence Details for C9orf131


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Basic Information Top
Gene Symbol:C9orf131 ( FLJ00273,MGC41945 )
Gene Full Name: chromosome 9 open reading frame 131
Band: 9p13.3
Quick LinksEntrez ID:138724; OMIM: NA; Uniprot ID:CI131_HUMAN; ENSEMBL ID: ENSG00000174038; HGNC ID: 31418
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C9orf131|138724|nucleotide
ATGGAATGGCTGCTGGAGGACCTGCTTGGGGCTAAGGGGGATATGGGGCTTCTCTGGGGCCAACTGACCCATGCCCTAGCCTGCAGACACTGCGGCAGCAGCTGC
TTCCAGAGTCCAGGAAATCTGGAACTACCACTTCTGCACCGTGTGGCCTTCCTTGATCACCTGTGTAAGCAGAAATCAGAAGTGGAGGAAGAAGGGGAAGAAGAG
GAAGAGGGGGAAGACGAGGCATCTCTGGATCCACTGAAGCCATGTTCTCCTACCAAAGAAGCTCCCACTGGAGAGCAAGCCACTCCAGCCCCACCCCAGCCATCC
TGTGGTTCTGAGGGCCTCCTCAAGGCTATAGGGATACCAGAGCAAACAGTCATGCAGCCCGTGAGCCCTTCCAGATCCTTCCCCATCTTCCAGATTCTGACCAGC
TTTCCTGTGAGGCACAAGATAGCATCAGGGAACCGCCAGCAGCAGAGAAAAAGCCAGCTCTTCTGGGGTCTCCCCTCTCTGCACAGCGAGTCCTTGGAGGCCATC
TTCCTGAGCTCAGGTGGCCCCTCTCCTCTGAAGTGGTCTGTTTGTTCTTCTGTCTTCTTCAACAAGCTTGCCTTCCTACCTAGGTCCAACCTGTTGCTTCCCCAG
TATCACTCCTCAGCCCAGTTTTCTACCCATGGGGCCCATACTATGGAAGATCTAGAAGGGATGGCCCCCGATCCTCAGCTGCTTCCACCTCCATCTTCTCCTTCT
GTCTCATCACTACTCCTCCATCTGAGGCCCTTCCCTGTGGACCACAAGGGAGTTTTATCTGGCGCTGAGGCACCCACACAGTCCCCTGGAACTAGCCCCCTGGAA
GTTCTCCCTGGATATGAGACTCATTTGGAAACCACAGGACACAAAAAGATGCCCCAAGCTTTTGAGCCTCCGATGCCACCCCCCTGCCAATCCCCAGCTTCTCTG
TCAGAACCCAGAAAAGTTAGCCCTGAAGGAGGACTTGCTATATCTAAGGACTTCTGGGGAACCGTGGGATACAGAGAGAAACCTCAGGCCTCTGAGTCTTCAATG
CCAGTCCCTTGCCCTCCCCTAGACTCCCTGCCAGAACTCCAGAGAGAGAGTTCCCTGGAAGATCCATCCAGATATAAGCCCCAGTGGGAATGCAGAGAAAACTCA
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>C9orf131|138724|protein
MEWLLEDLLGAKGDMGLLWGQLTHALACRHCGSSCFQSPGNLELPLLHRVAFLDHLCKQKSEVEEEGEEEEEGEDEASLDPLKPCSPTKEAPTGEQATPAPPQPS
CGSEGLLKAIGIPEQTVMQPVSPSRSFPIFQILTSFPVRHKIASGNRQQQRKSQLFWGLPSLHSESLEAIFLSSGGPSPLKWSVCSSVFFNKLAFLPRSNLLLPQ
YHSSAQFSTHGAHTMEDLEGMAPDPQLLPPPSSPSVSSLLLHLRPFPVDHKGVLSGAEAPTQSPGTSPLEVLPGYETHLETTGHKKMPQAFEPPMPPPCQSPASL
SEPRKVSPEGGLAISKDFWGTVGYREKPQASESSMPVPCPPLDSLPELQRESSLEDPSRYKPQWECRENSGNLWAFESPVLDLNPELSGTSPECVPPASETPWKG
MQSRENIWVPADPVSPPSLPSVPLLESLVMGPQGVLSESKALWETMGQKENLWASDSPDPVHSTPPTTLMEPHRINPGECLATSEATWKDTEHSRNSSASRSPSL
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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 (1) 0 (0) 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