Evidence Details for C6orf118
Basic Information Top
| Gene Symbol: | C6orf118 ( MGC23884,bA85G2.1,dJ416F21.2 ) |
|---|---|
| Gene Full Name: | chromosome 6 open reading frame 118 |
| Band: | 6q27 |
| Quick Links | Entrez ID:168090; OMIM: NA; Uniprot ID:CF118_HUMAN; ENSEMBL ID: ENSG00000112539; HGNC ID: 21233 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>C6orf118|168090|nucleotide
ATGGCGGAGGAGCGGGAGCCTGAATTGTACCTGAAGTGGAAGCACTGCGAGACGCCAGGCGTGAAGACCCTGTGTAATCTGAAGCACTGCGAGACGCCAGGAGTG
AAGACCCTGTGTAATCTGAAGAAACTTCTGAATCGGCTTCAGAAAGACCACCGGGAGGACGTCTACCTCTACATCTCTGGACACCTGAACCCCAACAAGCTCTAC
CAGCCTCCGGAGACGATCTTACAGCACTGGCCCAATGCCCACCGGCCCAAGGGGGAGCGCGCCTCTGAGGTGGGAGAGCCGCCCGCAGGGAAGGTGGCGAGGATG
AAGGAGGCCCTGGCCCACTTCACCATCCACACGGCCCTGGTCCCCAGTGAGGCCCAGGACACCCCGCTGTTCAGGTACCTGAACCCCCAGGCCTCTCTTTCCCAC
ACTTCAGAGGAGGATTTCCTTCCAGTGGAGGCTGTCAGAGAGGGGAAGGAAGAAAAGAAAGGAGGCCCTCCTGGACGGGGCCCTCCTGGATGGCGCAGGAGGGAA
GAACTCCGGCTGCCCGACTTGAAGGTGCTGTGCTACCAGGAGGCCGGGTCCAGAGGCACCAGGGACCGGCACCACTATGTCAGCTCCTACCTGGCCGGAGCCACC
AGCGCAGACAGGTACAGGATGTTCCTGCGTTTCCAGAAGGAAGTGCTCGCCAAGCAAGATCTCCTGAAGAATGACTTCACTGGGAGCAAGGCGGCCGCGGGCCAC
GAGAGAAAGCTGCAGCAGGAGCTCCAGAAAATTTGCACGTGCAGCCCCCAGCAGTTCAACAGACTGCACGTCTTTGGAAAAGTCTTTGAAGATATTTGTAACAGT
TCTTTGATATTTGGTGATCTCTTGAAAAAAGTTAAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGCTCTTCTG
GCTCAACTCAAGGCGCTGGGGCAGAGGCCGGTGAAGACGGCGGACATGGATCTCGCCAGGGAAGAGCTGAGGATGCTCGTGACAGCCACAAAAGCAGCCCTGGAG
CAGAATGATAGACTCAGAAGTGAACTGGAGATGGAGGTGGCATTGCTGCAGTCTGCAAAGGAACGATCAGAATCATCTGAGAAACATATAATTGATGAAAACCGA
Show »
ATGGCGGAGGAGCGGGAGCCTGAATTGTACCTGAAGTGGAAGCACTGCGAGACGCCAGGCGTGAAGACCCTGTGTAATCTGAAGCACTGCGAGACGCCAGGAGTG
AAGACCCTGTGTAATCTGAAGAAACTTCTGAATCGGCTTCAGAAAGACCACCGGGAGGACGTCTACCTCTACATCTCTGGACACCTGAACCCCAACAAGCTCTAC
CAGCCTCCGGAGACGATCTTACAGCACTGGCCCAATGCCCACCGGCCCAAGGGGGAGCGCGCCTCTGAGGTGGGAGAGCCGCCCGCAGGGAAGGTGGCGAGGATG
AAGGAGGCCCTGGCCCACTTCACCATCCACACGGCCCTGGTCCCCAGTGAGGCCCAGGACACCCCGCTGTTCAGGTACCTGAACCCCCAGGCCTCTCTTTCCCAC
ACTTCAGAGGAGGATTTCCTTCCAGTGGAGGCTGTCAGAGAGGGGAAGGAAGAAAAGAAAGGAGGCCCTCCTGGACGGGGCCCTCCTGGATGGCGCAGGAGGGAA
GAACTCCGGCTGCCCGACTTGAAGGTGCTGTGCTACCAGGAGGCCGGGTCCAGAGGCACCAGGGACCGGCACCACTATGTCAGCTCCTACCTGGCCGGAGCCACC
AGCGCAGACAGGTACAGGATGTTCCTGCGTTTCCAGAAGGAAGTGCTCGCCAAGCAAGATCTCCTGAAGAATGACTTCACTGGGAGCAAGGCGGCCGCGGGCCAC
GAGAGAAAGCTGCAGCAGGAGCTCCAGAAAATTTGCACGTGCAGCCCCCAGCAGTTCAACAGACTGCACGTCTTTGGAAAAGTCTTTGAAGATATTTGTAACAGT
TCTTTGATATTTGGTGATCTCTTGAAAAAAGTTAAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGCTCTTCTG
GCTCAACTCAAGGCGCTGGGGCAGAGGCCGGTGAAGACGGCGGACATGGATCTCGCCAGGGAAGAGCTGAGGATGCTCGTGACAGCCACAAAAGCAGCCCTGGAG
CAGAATGATAGACTCAGAAGTGAACTGGAGATGGAGGTGGCATTGCTGCAGTCTGCAAAGGAACGATCAGAATCATCTGAGAAACATATAATTGATGAAAACCGA
Show »
>C6orf118|168090|protein
MAEEREPELYLKWKHCETPGVKTLCNLKHCETPGVKTLCNLKKLLNRLQKDHREDVYLYISGHLNPNKLYQPPETILQHWPNAHRPKGERASEVGEPPAGKVARM
KEALAHFTIHTALVPSEAQDTPLFRYLNPQASLSHTSEEDFLPVEAVREGKEEKKGGPPGRGPPGWRRREELRLPDLKVLCYQEAGSRGTRDRHHYVSSYLAGAT
SADRYRMFLRFQKEVLAKQDLLKNDFTGSKAAAGHERKLQQELQKICTCSPQQFNRLHVFGKVFEDICNSSLIFGDLLKKVKDEYELYMATLLESQPAAQYEALL
AQLKALGQRPVKTADMDLAREELRMLVTATKAALEQNDRLRSELEMEVALLQSAKERSESSEKHIIDENRLTLTEKVEKKRCEILSKWDEIQALEKEIKTTLVHT
GISDITENRIKSIEHEAIQLETENMILKKKIKGPLEIYQGICKIRGNRR
Show »
MAEEREPELYLKWKHCETPGVKTLCNLKHCETPGVKTLCNLKKLLNRLQKDHREDVYLYISGHLNPNKLYQPPETILQHWPNAHRPKGERASEVGEPPAGKVARM
KEALAHFTIHTALVPSEAQDTPLFRYLNPQASLSHTSEEDFLPVEAVREGKEEKKGGPPGRGPPGWRRREELRLPDLKVLCYQEAGSRGTRDRHHYVSSYLAGAT
SADRYRMFLRFQKEVLAKQDLLKNDFTGSKAAAGHERKLQQELQKICTCSPQQFNRLHVFGKVFEDICNSSLIFGDLLKKVKDEYELYMATLLESQPAAQYEALL
AQLKALGQRPVKTADMDLAREELRMLVTATKAALEQNDRLRSELEMEVALLQSAKERSESSEKHIIDENRLTLTEKVEKKRCEILSKWDEIQALEKEIKTTLVHT
GISDITENRIKSIEHEAIQLETENMILKKKIKGPLEIYQGICKIRGNRR
Show »
Evidence summary TopClick 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 (1) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 2 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Toma C, 2014 | - | Illumina HiSeq 2000 | - | - | ASD | 10 | - | - | 21 | - |
Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.