Evidence Details for C9orf3
Basic Information Top
Gene Symbol: | C9orf3 ( AOPEP,AP-O,APO,C90RF3,FLJ14675,FLJ40923,FLJ55832,ONPEP ) |
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Gene Full Name: | chromosome 9 open reading frame 3 |
Band: | 9q22.32 |
Quick Links | Entrez 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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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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MDIQLDPARDDLPLMANTSHILVKHYVLDLDVDFESQVIEGTIVLFLEDGNRFKKQNSSIEEACQSESNKACKFGMPEPCHIPVTNARTFSSEMEYNDFAICSKG
EKDTSDKDGNHDNQEHASGISSSKYCCDTGNHGSEDFLLVLDCCDLSVLKVEEVDVAAVPGLEKFTRSPELTVVSEEFRNQIVRELVTLPANRWREQLDYYARCS
QAPGCGELLFDTDTWSLQIRKTGAQTATDFPHAIRIWYKTKPEGRSVTWTSDQSGRPCVYTVGSPINNRALFPCQEPPVAMSTWQATVRAAASFVVLMSGENSAK
PTQLWEECSSWYYYVTMPMPASTFTIAVGCWTEMKMETWSSNDLATERPFSPSEANFRHVGVCSHMEYPCRFQNASATTQEIIPHRVFAPVCLTGACQETLLRLI
PPCLSAAHSVLGAHPFSRLDVLIVPANFPSLGMASPHIMFLSQSILTGGNHLCGTRLCHEIAHAWFGLAIGARDWTEEWLSEGFATHLEDVFWATAQQLAPYEAR
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
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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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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