Evidence Details for COL6A6
Basic Information Top
| Gene Symbol: | COL6A6 ( - ) |
|---|---|
| Gene Full Name: | collagen, type VI, alpha 6 |
| Band: | 3q22.1 |
| Quick Links | Entrez ID:131873; OMIM: NA; Uniprot ID:CO6A6_HUMAN; ENSEMBL ID: ENSG00000206384; HGNC ID: 27023 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>COL6A6|131873|nucleotide
ATGATGTTGCTAATTTTGTTCCTCGTGATAATTTGTTCCCATATTTCTGTGAACCAAGATTCCGGCCCTGAGTATGCAGATGTTGTGTTTTTGGTGGACAGCTCT
GATCGCCTGGGATCCAAGTCCTTCCCATTTGTGAAAATGTTCATCACCAAAATGATCAGCAGTCTCCCCATAGAGGCCGACAAATACCGTGTGGCCCTGGCCCAG
TACAGTGATAAACTTCACAGTGAATTCCACCTGAGCACCTTCAAAGGCAGGAGCCCCATGCTGAACCACCTAAGGAAGAACTTTGGATTCATTGGCGGGTCCCTG
CAGATAGGAAAGGCTCTTCAGGAGGCTCACAGGACTTATTTCTCTGCACCCGCAAATGGGAGAGACAAGAAACAGTTTCCCCCAATTCTAGTGGTCCTGGCTTCA
TCTGAGTCTGAGGATAATGTGGAAGAGGCATCAAAGGCCCTGCGGAAAGACGGAGTGAAAATCATCTCTGTAGGGGTGCAGAAAGCTTCTGAGGAAAACCTGAAG
GCCATGGCCACGTCTCAGTTTCATTTCAACCTTCGGACAGTCAGAGACCTCAGCATGTTTTCCCAAAACATGACACACATCATCAAGGATGTAATAAAGTACAAG
GAGGGAGCAGTTGATGACATCTTTGTAGAAGCTTGCCAAGGCCCTTCTATGGCCGATGTTGTGTTCCTATTGGATATGTCAATCAATGGAAGTGAGGAGAACTTT
GACTATCTTAAAGGATTCTTGGAAGAAAGTGTATCTGCCCTTGACATAAAGGAAAATTGCATGAGGGTTGGCCTTGTGGCCTATAGCAATGAGACAAAAGTGATA
AATTCACTGAGCATGGGCATAAATAAGTCAGAGGTTCTCCAGCATATACAGAACCTTTCTCCCCGAACTGGGAAGGCCTATACTGGAGCTGCCATCAAAAAGCTC
AGGAAGGAAGTTTTTAGTGCACGGAATGGCAGTCGGAAGAATCAGGGGGTGCCCCAGATTGCCGTGCTGGTGACCCACCGAGATTCAGAAGACAACGTGACAAAA
GCAGCTGTTAACCTCCGACGGGAGGGTGTGACCATCTTCACCCTGGGCATAGAGGGCGCCAGCGACACCCAGTTGGAAAAGATAGCATCCCACCCTGCTGAGCAG
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ATGATGTTGCTAATTTTGTTCCTCGTGATAATTTGTTCCCATATTTCTGTGAACCAAGATTCCGGCCCTGAGTATGCAGATGTTGTGTTTTTGGTGGACAGCTCT
GATCGCCTGGGATCCAAGTCCTTCCCATTTGTGAAAATGTTCATCACCAAAATGATCAGCAGTCTCCCCATAGAGGCCGACAAATACCGTGTGGCCCTGGCCCAG
TACAGTGATAAACTTCACAGTGAATTCCACCTGAGCACCTTCAAAGGCAGGAGCCCCATGCTGAACCACCTAAGGAAGAACTTTGGATTCATTGGCGGGTCCCTG
CAGATAGGAAAGGCTCTTCAGGAGGCTCACAGGACTTATTTCTCTGCACCCGCAAATGGGAGAGACAAGAAACAGTTTCCCCCAATTCTAGTGGTCCTGGCTTCA
TCTGAGTCTGAGGATAATGTGGAAGAGGCATCAAAGGCCCTGCGGAAAGACGGAGTGAAAATCATCTCTGTAGGGGTGCAGAAAGCTTCTGAGGAAAACCTGAAG
GCCATGGCCACGTCTCAGTTTCATTTCAACCTTCGGACAGTCAGAGACCTCAGCATGTTTTCCCAAAACATGACACACATCATCAAGGATGTAATAAAGTACAAG
GAGGGAGCAGTTGATGACATCTTTGTAGAAGCTTGCCAAGGCCCTTCTATGGCCGATGTTGTGTTCCTATTGGATATGTCAATCAATGGAAGTGAGGAGAACTTT
GACTATCTTAAAGGATTCTTGGAAGAAAGTGTATCTGCCCTTGACATAAAGGAAAATTGCATGAGGGTTGGCCTTGTGGCCTATAGCAATGAGACAAAAGTGATA
AATTCACTGAGCATGGGCATAAATAAGTCAGAGGTTCTCCAGCATATACAGAACCTTTCTCCCCGAACTGGGAAGGCCTATACTGGAGCTGCCATCAAAAAGCTC
AGGAAGGAAGTTTTTAGTGCACGGAATGGCAGTCGGAAGAATCAGGGGGTGCCCCAGATTGCCGTGCTGGTGACCCACCGAGATTCAGAAGACAACGTGACAAAA
GCAGCTGTTAACCTCCGACGGGAGGGTGTGACCATCTTCACCCTGGGCATAGAGGGCGCCAGCGACACCCAGTTGGAAAAGATAGCATCCCACCCTGCTGAGCAG
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>COL6A6|131873|protein
MMLLILFLVIICSHISVNQDSGPEYADVVFLVDSSDRLGSKSFPFVKMFITKMISSLPIEADKYRVALAQYSDKLHSEFHLSTFKGRSPMLNHLRKNFGFIGGSL
QIGKALQEAHRTYFSAPANGRDKKQFPPILVVLASSESEDNVEEASKALRKDGVKIISVGVQKASEENLKAMATSQFHFNLRTVRDLSMFSQNMTHIIKDVIKYK
EGAVDDIFVEACQGPSMADVVFLLDMSINGSEENFDYLKGFLEESVSALDIKENCMRVGLVAYSNETKVINSLSMGINKSEVLQHIQNLSPRTGKAYTGAAIKKL
RKEVFSARNGSRKNQGVPQIAVLVTHRDSEDNVTKAAVNLRREGVTIFTLGIEGASDTQLEKIASHPAEQYVSKLKTFADLAAHNQTFLKKLRNQITHTVSVFSE
RTETLKSGCVDTEEADIYLLIDGSGSTQATDFHEMKTFLSEVVGMFNIAPHKVRVGAVQYADSWDLEFEINKYSNKQDLGKAIENIRQMGGNTNTGAALNFTLSL
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MMLLILFLVIICSHISVNQDSGPEYADVVFLVDSSDRLGSKSFPFVKMFITKMISSLPIEADKYRVALAQYSDKLHSEFHLSTFKGRSPMLNHLRKNFGFIGGSL
QIGKALQEAHRTYFSAPANGRDKKQFPPILVVLASSESEDNVEEASKALRKDGVKIISVGVQKASEENLKAMATSQFHFNLRTVRDLSMFSQNMTHIIKDVIKYK
EGAVDDIFVEACQGPSMADVVFLLDMSINGSEENFDYLKGFLEESVSALDIKENCMRVGLVAYSNETKVINSLSMGINKSEVLQHIQNLSPRTGKAYTGAAIKKL
RKEVFSARNGSRKNQGVPQIAVLVTHRDSEDNVTKAAVNLRREGVTIFTLGIEGASDTQLEKIASHPAEQYVSKLKTFADLAAHNQTFLKKLRNQITHTVSVFSE
RTETLKSGCVDTEEADIYLLIDGSGSTQATDFHEMKTFLSEVVGMFNIAPHKVRVGAVQYADSWDLEFEINKYSNKQDLGKAIENIRQMGGNTNTGAALNFTLSL
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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 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Cusco, 2008 | Spanish | aCGH |  |  | ASD | - | - | - | - | 96 | 100 | 196 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Cukier HN, 2014 | - | Illumina HiSeq 2000 | | | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
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.