Evidence Details for C3orf38
Basic Information Top
Gene Symbol: | C3orf38 ( FLJ54270,MGC26717 ) |
---|---|
Gene Full Name: | chromosome 3 open reading frame 38 |
Band: | 3p11.1 |
Quick Links | Entrez ID:285237; OMIM: NA; Uniprot ID:CC038_HUMAN; ENSEMBL ID: ENSG00000179021; HGNC ID: 28384 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>C3orf38|285237|nucleotide
ATGGAGATGTCGGGACTCAGCTTTTCAGAGATGGAGGGCTGCCGTAACCTACTTGGCCTACTGGACAACGACGAGATCATGGCCCTATGCGACACCGTCACCAAC
CGCCTGGTGCAGCCTCAGGACCGCCAAGATGCTGTTCATGCAATATTAGCATACAGTCAAAGTGCAGAAGAACTTCTGAGGCGTAGAAAAGTCCACCGAGAAGTT
ATATTTAAGTACTTGGCAACACAGGGGATTGTTATACCTCCAGCTACTGAAAAACACAATCTTATTCAGCATGCAAAAGATTACTGGCAAAAGCAACCACAACTG
AAATTGAAGGAAACGCCAGAGCCAGTTACAAAGACAGAGGACATCCACCTATTTCAACAGCAGGTGAAAGAAGATAAAAAAGCTGAAAAAGTTGATTTTCGTCGC
CTAGGAGAAGAATTCTGTCATTGGTTCTTTGGACTTCTTAATTCTCAGAATCCTTTTCTAGGACCACCTCAAGATGAATGGGGACCACAGCACTTCTGGCATGAT
GTGAAGCTTAGGTTTTATTACAACACATCAGAACAAAATGTTATGGACTACCATGGAGCAGAAATCGTGAGCCTTCGTTTGCTGTCACTAGTAAAAGAAGAATTT
CTTTTTCTCAGCCCCAACCTAGATTCACATGGACTGAAATGTGCATCTTCTCCTCATGGGCTGGTTATGGTTGGAGTTGCTGGGACTGTCCATCGAGGAAACACT
TGTTTGGGCATTTTTGAACAAATTTTTGGACTCATCCGCTGCCCTTTTGTGGAGAATACTTGGAAAATCAAATTTATCAACCTGAAAATTATGGGAGAGAGTTCC
CTTGCTCCTGGAACATTACCGAAACCATCTGTTAAATTTGAACAAAGTGATCTAGAGGCCTTTTATAATGTAATCACTGTATGTGGTACCAATGAAGTACGACAT
AATGTAAAGCAGGCTTCGGATAGTGGAACTGGGGACCAAGTTTGA
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ATGGAGATGTCGGGACTCAGCTTTTCAGAGATGGAGGGCTGCCGTAACCTACTTGGCCTACTGGACAACGACGAGATCATGGCCCTATGCGACACCGTCACCAAC
CGCCTGGTGCAGCCTCAGGACCGCCAAGATGCTGTTCATGCAATATTAGCATACAGTCAAAGTGCAGAAGAACTTCTGAGGCGTAGAAAAGTCCACCGAGAAGTT
ATATTTAAGTACTTGGCAACACAGGGGATTGTTATACCTCCAGCTACTGAAAAACACAATCTTATTCAGCATGCAAAAGATTACTGGCAAAAGCAACCACAACTG
AAATTGAAGGAAACGCCAGAGCCAGTTACAAAGACAGAGGACATCCACCTATTTCAACAGCAGGTGAAAGAAGATAAAAAAGCTGAAAAAGTTGATTTTCGTCGC
CTAGGAGAAGAATTCTGTCATTGGTTCTTTGGACTTCTTAATTCTCAGAATCCTTTTCTAGGACCACCTCAAGATGAATGGGGACCACAGCACTTCTGGCATGAT
GTGAAGCTTAGGTTTTATTACAACACATCAGAACAAAATGTTATGGACTACCATGGAGCAGAAATCGTGAGCCTTCGTTTGCTGTCACTAGTAAAAGAAGAATTT
CTTTTTCTCAGCCCCAACCTAGATTCACATGGACTGAAATGTGCATCTTCTCCTCATGGGCTGGTTATGGTTGGAGTTGCTGGGACTGTCCATCGAGGAAACACT
TGTTTGGGCATTTTTGAACAAATTTTTGGACTCATCCGCTGCCCTTTTGTGGAGAATACTTGGAAAATCAAATTTATCAACCTGAAAATTATGGGAGAGAGTTCC
CTTGCTCCTGGAACATTACCGAAACCATCTGTTAAATTTGAACAAAGTGATCTAGAGGCCTTTTATAATGTAATCACTGTATGTGGTACCAATGAAGTACGACAT
AATGTAAAGCAGGCTTCGGATAGTGGAACTGGGGACCAAGTTTGA
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>C3orf38|285237|protein
MEMSGLSFSEMEGCRNLLGLLDNDEIMALCDTVTNRLVQPQDRQDAVHAILAYSQSAEELLRRRKVHREVIFKYLATQGIVIPPATEKHNLIQHAKDYWQKQPQL
KLKETPEPVTKTEDIHLFQQQVKEDKKAEKVDFRRLGEEFCHWFFGLLNSQNPFLGPPQDEWGPQHFWHDVKLRFYYNTSEQNVMDYHGAEIVSLRLLSLVKEEF
LFLSPNLDSHGLKCASSPHGLVMVGVAGTVHRGNTCLGIFEQIFGLIRCPFVENTWKIKFINLKIMGESSLAPGTLPKPSVKFEQSDLEAFYNVITVCGTNEVRH
NVKQASDSGTGDQV
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MEMSGLSFSEMEGCRNLLGLLDNDEIMALCDTVTNRLVQPQDRQDAVHAILAYSQSAEELLRRRKVHREVIFKYLATQGIVIPPATEKHNLIQHAKDYWQKQPQL
KLKETPEPVTKTEDIHLFQQQVKEDKKAEKVDFRRLGEEFCHWFFGLLNSQNPFLGPPQDEWGPQHFWHDVKLRFYYNTSEQNVMDYHGAEIVSLRLLSLVKEEF
LFLSPNLDSHGLKCASSPHGLVMVGVAGTVHRGNTCLGIFEQIFGLIRCPFVENTWKIKFINLKIMGESSLAPGTLPKPSVKFEQSDLEAFYNVITVCGTNEVRH
NVKQASDSGTGDQV
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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 |
---|---|---|---|---|---|---|---|---|---|---|---|
Score (No. of Studies) | No | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
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 |
---|---|---|---|---|
O'Roak BJ, 2012 | 1703 | 209 | 242 | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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