AutismKB 2.0

Evidence Details for C9orf50


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Basic Information Top
Gene Symbol:C9orf50 ( FLJ35803 )
Gene Full Name: chromosome 9 open reading frame 50
Band: 9q34.11
Quick LinksEntrez ID:375759; OMIM: NA; Uniprot ID:CI050_HUMAN; ENSEMBL ID: ENSG00000179058; HGNC ID: 23677
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C9orf50|375759|nucleotide
ATGTTCTGGCGTCGACTTCGCCCAGGGGCCCAGGACCTGGCGCCCAAGGGGCTCCCTGGCGACGGAGACTTCCGACGCAGCAGCGACCCGCGGCTGCCCAAGCTG
ACCCCGCCCGCGCTCCGAGCGGCTCTGGGCGCGCGGGGCTCCGGGGACTGGAGGATCCCGGGGGGCGGCGCCGCGTGGTGGCCGGAAGGGGACGCCAAGCCCGGG
GTGGGCGTCGGACGCCTCCCGCCGCGCCTGCCCGCCTTGCTCACCGCGACCCGGCGGGCCGTGCGGAAGCGGGGGCTGCTGCGGTCCCTGCTGCCGCCTCCCCTG
CTGTCGGCCGGCGCGTCCCGGGAATCGGCGCCCAGGCAGCCAGGGCCTGGAGAGCGCGAGCGCCCCCGGAGGCGCGTGGCCAGGGAGGACCCCGACTTCTTGGGC
GCCTTCCTAGGAGAGCTCCTCCCCAGCAGGTTCCGTGAGTTCCTGCACCAGCTCCAGGAGAAGTGCGCCGAGGAGCCGGAGCCACTGACATCCCCAGCACCGCAA
CATCAAAGGGGTGTATTAGAGCACTGCCCAGGGTCTCCGCGGTGTCCCAACTGTTCATTCCTCCCAGACCTGTGGGGCCAGTCATCGCACCTCCAGGATAGTCTT
ACGAAGATTTCGCTCCAGCAGACACCTATTCTGGGGCCCCTGAAGGGTGATCACTCACAATTCACCACTGTCAGAAAGGCCAACCACAGGCCCCACGGTGCACAG
GTCCCCAGGCTCAAGGCTGCGCTGACCCACAACCCCTCGGGGGAAGGCTCTAGGCCCTGCAGGCAGCGTTGCCCTTTCCGGGTGCGATTCGCTGACGAGACCCTG
CAGGACACAACGCTCCGCTACTGGGAGCGCAGACGCTCAGTCCAACAGAGCGTCATTGTGAACCAGAAGGCCGCCCTGCCAGTGGCGTCCGAGCGGGTGTTTGGG
AGTGTCGGAAAACGGCTGGAGAGTTTGCCCAAAGCCCTGTACCCTGGGGCCAAGGAGGAGACCCTGGCCAGCTCCTCGTGTTGGGACTGCGCTGGCCTGTCCACC
CAGAAGACACAGGGCTACCTTTCTGAGGACACCTCCATGAACAGCAGCCTGCCCTTCTGTTCATGGAAGAAGGCCGCTGCTCAGAGGCCGCGAAGCAGCCTCCGA
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>C9orf50|375759|protein
MFWRRLRPGAQDLAPKGLPGDGDFRRSSDPRLPKLTPPALRAALGARGSGDWRIPGGGAAWWPEGDAKPGVGVGRLPPRLPALLTATRRAVRKRGLLRSLLPPPL
LSAGASRESAPRQPGPGERERPRRRVAREDPDFLGAFLGELLPSRFREFLHQLQEKCAEEPEPLTSPAPQHQRGVLEHCPGSPRCPNCSFLPDLWGQSSHLQDSL
TKISLQQTPILGPLKGDHSQFTTVRKANHRPHGAQVPRLKAALTHNPSGEGSRPCRQRCPFRVRFADETLQDTTLRYWERRRSVQQSVIVNQKAALPVASERVFG
SVGKRLESLPKALYPGAKEETLASSSCWDCAGLSTQKTQGYLSEDTSMNSSLPFCSWKKAAAQRPRSSLRAFLDPHRNLEQESLLPNRVLQSVLKQGCPKGYHLL
LASATLQPDKR
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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 (0) 0 (0) 0 (1) 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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top