AutismKB 2.0

Evidence Details for C9orf167


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Basic Information Top
Gene Symbol:C9orf167 ( FLJ20245 )
Gene Full Name: chromosome 9 open reading frame 167
Band: 9q34.3
Quick LinksEntrez ID:54863; OMIM: NA; Uniprot ID:CI167_HUMAN; ENSEMBL ID: ENSG00000198113; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C9orf167|54863|nucleotide
ATGGACCGCGGCCAGCCCAGCCTGGAGCCTGCTGCCGCGGCCCCCCGAGCCTCGGGCCGGTGCGTGATCGCGCCCGTGCGCGCTGTGCTCCGCCTGCGCCGCCGG
GTGTGTGTCCTACGCAAACGGCGCCTCCTGCAGCCGGGTGGGGGGCCCGACGTCGGGACCGGGGCGCCCAGGCCGGGCTGCAGCCCCCGGGCACCGCGCGCGGAC
CTGGACCAGCCAAAGTTCTTCACCTTCGACAGCCCCGCGGAGCTACCCTCCAGGACGCCACGCAAGAAGCGCCGGCGCAGCCGCCTGGTGCTTTACCCGGAGACC
TCGCGCAAGTATCGGCCGCGCGTGGAGCACAGGAGCCGCGCGCAGCGCTGCCTTCTGCTGCTAGTCGCCATCGTGGGCTTCCAAGTTCTCAACGCTATCGAGAAC
CTGGACGATAACGCGCAGCGCTATGACCTCGACGGGCTGGAGAAAGCGCTGCAGCGCGCGGTGTTCGGCCAGCCCGCTGCCGTATCGCGCATCGTGGCGCTGATG
CGGGACTACCTGGCCACGCATGTGCACAGTCGTCCGCTCCTCCTGGCGCTGCACGGGCCCAGTGGCGTGGGCAAGAGCCACGTGGGCCGCCTGCTGGCGCGCCAC
TTCCGCTCGGTGCTGGAGGACAGCGCGCTCGTGCTGCAATACCATGCGCGGCACCACTGCCCCGAGGCGCGCGCCGCACAGGACTGCCGCGAGGAGCTGGCGCGG
CGCGTGGCCGACGTGGTGGCGCGGGCCGAAGCGGAGGAGAAGACCCCACTCTTGGTGCTGGACGACGTGGAGCTCATGCCGCGGCCGCTGCTGGACGAGCTGCAC
GGCTTCCTGCAGCCGCAGCGCTCCCACCACTTCCACAACGCCATCTACGTGCTCCTCAGTGGCGCGGGTGGCGCCGAGGTCACGCGCTTCGTGCTGCAGAACGCG
TCCCGCGCGCTGCCCCTGCGCCCCGACGGCTTCCGCAGTGCCGAGGCCGCAGCGGCGCAGGCGGAAGAAGACCTGCGCGCCAGCCTGCTGGCTGTGCTGTCCCGG
GAGCATCCGCTGTGGCAGGCCGCGGCCATCGTGCCGTTTCTGCTGCTGGACAAGCGGGATGTGGTCAGCTGCTTCCGGGACGAGATGGCGGGTGAGGGCTTCTTT
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>C9orf167|54863|protein
MDRGQPSLEPAAAAPRASGRCVIAPVRAVLRLRRRVCVLRKRRLLQPGGGPDVGTGAPRPGCSPRAPRADLDQPKFFTFDSPAELPSRTPRKKRRRSRLVLYPET
SRKYRPRVEHRSRAQRCLLLLVAIVGFQVLNAIENLDDNAQRYDLDGLEKALQRAVFGQPAAVSRIVALMRDYLATHVHSRPLLLALHGPSGVGKSHVGRLLARH
FRSVLEDSALVLQYHARHHCPEARAAQDCREELARRVADVVARAEAEEKTPLLVLDDVELMPRPLLDELHGFLQPQRSHHFHNAIYVLLSGAGGAEVTRFVLQNA
SRALPLRPDGFRSAEAAAAQAEEDLRASLLAVLSREHPLWQAAAIVPFLLLDKRDVVSCFRDEMAGEGFFPDQARAENLAAQLSFYRVAGREFAVTGCKQVVATV
NLL
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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 (2) 1 (3) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (6)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top