AutismKB 2.0

Evidence Details for C9orf3


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Basic Information Top
Gene Symbol:C9orf3 ( AOPEP,AP-O,APO,C90RF3,FLJ14675,FLJ40923,FLJ55832,ONPEP )
Gene Full Name: chromosome 9 open reading frame 3
Band: 9q22.32
Quick LinksEntrez ID:84909; OMIM: NA; Uniprot ID:AMPO_HUMAN; ENSEMBL ID: ENSG00000148120; HGNC ID: 1361
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C9orf3|84909|nucleotide
ATGGACATACAGCTGGACCCTGCCAGAGATGACCTGCCTCTCATGGCCAACACCAGCCACATACTTGTGAAGCACTATGTACTGGATTTGGATGTGGATTTTGAA
AGTCAAGTCATTGAGGGGACCATAGTGCTTTTCCTCGAGGATGGAAACAGATTCAAGAAACAGAATAGCTCTATTGAGGAAGCCTGCCAATCAGAATCAAACAAA
GCCTGCAAATTTGGGATGCCTGAACCCTGCCATATTCCCGTGACAAATGCAAGGACCTTCTCATCTGAAATGGAATATAATGATTTTGCAATCTGTAGTAAAGGT
GAAAAAGATACTTCTGATAAAGATGGTAACCATGACAACCAGGAACATGCTTCTGGGATTTCTAGCTCAAAGTACTGCTGTGACACAGGGAATCATGGGAGTGAG
GATTTTTTGCTAGTGTTGGACTGCTGTGATTTATCTGTGTTAAAAGTCGAGGAGGTGGATGTTGCTGCTGTGCCAGGTCTGGAAAAATTTACAAGGTCTCCTGAG
CTCACGGTTGTTTCTGAGGAGTTCAGGAATCAGATTGTACGTGAACTTGTGACTTTGCCTGCAAATCGTTGGAGGGAGCAGTTAGACTATTACGCTCGCTGCAGC
CAGGCTCCTGGCTGTGGGGAACTCCTCTTTGACACTGACACTTGGAGCTTGCAGATAAGGAAGACAGGGGCTCAGACAGCTACTGACTTTCCTCATGCTATCAGG
ATATGGTACAAAACTAAACCTGAAGGGCGATCGGTTACATGGACCTCAGACCAGAGTGGCAGGCCATGTGTTTATACTGTGGGATCTCCCATAAACAACAGGGCC
CTTTTTCCATGCCAGGAGCCACCCGTTGCCATGTCAACATGGCAGGCTACAGTTCGAGCAGCTGCATCTTTTGTTGTTTTAATGAGTGGGGAAAATTCTGCCAAA
CCAACGCAGCTTTGGGAAGAGTGCTCAAGCTGGTATTACTATGTAACTATGCCAATGCCAGCCTCCACCTTCACAATTGCAGTGGGATGCTGGACAGAAATGAAG
ATGGAGACATGGTCATCAAATGATTTGGCAACAGAGAGACCCTTCTCACCTTCTGAGGCCAACTTCAGGCATGTTGGTGTTTGCAGTCACATGGAATACCCCTGC
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>C9orf3|84909|protein
MDIQLDPARDDLPLMANTSHILVKHYVLDLDVDFESQVIEGTIVLFLEDGNRFKKQNSSIEEACQSESNKACKFGMPEPCHIPVTNARTFSSEMEYNDFAICSKG
EKDTSDKDGNHDNQEHASGISSSKYCCDTGNHGSEDFLLVLDCCDLSVLKVEEVDVAAVPGLEKFTRSPELTVVSEEFRNQIVRELVTLPANRWREQLDYYARCS
QAPGCGELLFDTDTWSLQIRKTGAQTATDFPHAIRIWYKTKPEGRSVTWTSDQSGRPCVYTVGSPINNRALFPCQEPPVAMSTWQATVRAAASFVVLMSGENSAK
PTQLWEECSSWYYYVTMPMPASTFTIAVGCWTEMKMETWSSNDLATERPFSPSEANFRHVGVCSHMEYPCRFQNASATTQEIIPHRVFAPVCLTGACQETLLRLI
PPCLSAAHSVLGAHPFSRLDVLIVPANFPSLGMASPHIMFLSQSILTGGNHLCGTRLCHEIAHAWFGLAIGARDWTEEWLSEGFATHLEDVFWATAQQLAPYEAR
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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 (0) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top