AutismKB 2.0

Evidence Details for C9orf93


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Basic Information Top
Gene Symbol:C9orf93 ( DKFZp686P12113,FLJ39267,FLJ46740,MGC50805,bA536D16.1,bA778P13.1 )
Gene Full Name: chromosome 9 open reading frame 93
Band: 9p22.3
Quick LinksEntrez ID:203238; OMIM: NA; Uniprot ID:CI093_HUMAN; ENSEMBL ID: ENSG00000164989; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C9orf93|203238|nucleotide
ATGAATTTGAATACTTCAAGTAATACTGGTGATACCCAAAGGTTGAAGATTGCCTCATTGGATGTAAAACAAATACTTAAAAATGAAACAGAGTTGGATATTACT
GATAATCTCAGGAAGAAACTCCATTGGGCTAAAAAAGAAAAGTTAGAAATAACAACCAAACACAATGCAGAGCTGGCAAGCTATGAGAGCCAGATTGCCAAGCTA
CGGTCCGAGGTTGAAAAGGGAGAAGCATTGCGACAAAGTCTGGAATATGACCTAGCTGTTGCTAGAAAGGAAGCTGGTCTTGGAAGACGGGCTGCTGAAGAAAGA
TTAGCCGAGGCACATAGGATCCAAGAAAAACTCTGTGCACAGAATTCAGAACTTCAAGCAAAGACAAATGAGACTGAGAAAGCATTTCAGACTTCTCAGCAAAAA
TGGAAAGAAGAATGCAGAAGATTTGAACATGATTTGGAGGAAAGAGACAATATGATCCAAAATTGCAATCGAGAATATGATTTACTTATGAAAGAAAAAAGCAGA
CTAGAGAAAACTCTACAGGAAGCGTTGGAAAAACATCAACGGGAGAAGAATGAGATGGAGTCTCATATCAGGGAGACAGCATTGGAGGAGTTTAGATTACAAGAA
GAACAATGGGAAGCAGAAAGAAGAGAATTACAATTTATAGTACAGGAGCAAGATACTGCTGTGCAAAATATGCATAAGAAAGTAGAAAAATTAGAAACAGAACAT
ATGGACTGCTCTGACCTTTTACGGCGACAAACAAGTGAACTTGAATTTAGCACTCAACGAGAGGAACGCCTTAGAAAAGAATTTGAGGCAACTACTCTAAGAGTG
AGGAAATTAGAAGAAAACATTGAAGCAGAAAGAGCAGCGCATTTGGAATCAAAATTTAATTCTGAAATTATTCAGTTACGGATTCGAGACCTTGAAGGAGCTTTG
CAAGTAGAGAAGGCCAGTCAAGCAGAAGCTGTTGCTGATTTGGAAATTATCAAGAATGAATTCAAAGAAGTTGAAAGTGCATATGAGCGAGAAAAGCATAATGCA
CAAGAGAGCTTTGCAAAACTAAATTTATTAGAAAAAGAGTATTTCTCCAAAAATAAGAAACTAAATGAAGACATCGAGGAACAGAAGAAAGTAATTATAGACCTT
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>C9orf93|203238|protein
MNLNTSSNTGDTQRLKIASLDVKQILKNETELDITDNLRKKLHWAKKEKLEITTKHNAELASYESQIAKLRSEVEKGEALRQSLEYDLAVARKEAGLGRRAAEER
LAEAHRIQEKLCAQNSELQAKTNETEKAFQTSQQKWKEECRRFEHDLEERDNMIQNCNREYDLLMKEKSRLEKTLQEALEKHQREKNEMESHIRETALEEFRLQE
EQWEAERRELQFIVQEQDTAVQNMHKKVEKLETEHMDCSDLLRRQTSELEFSTQREERLRKEFEATTLRVRKLEENIEAERAAHLESKFNSEIIQLRIRDLEGAL
QVEKASQAEAVADLEIIKNEFKEVESAYEREKHNAQESFAKLNLLEKEYFSKNKKLNEDIEEQKKVIIDLSKRLQYNEKSCSELQEELVMAKKHQAFLVETCENN
VKELESILDSFTVSGQWTSGIHKDKDKPPSFSVVLERLRRTLTDYQNKLEDASNEEKACNELDSTKQKIDSHTKNIKELQDKLADVNKELSHLHTKCADREALIS
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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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top