AutismKB 2.0

Evidence Details for COL6A6


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Basic Information Top
Gene Symbol:COL6A6 ( - )
Gene Full Name: collagen, type VI, alpha 6
Band: 3q22.1
Quick LinksEntrez 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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>COL6A6|131873|protein
MMLLILFLVIICSHISVNQDSGPEYADVVFLVDSSDRLGSKSFPFVKMFITKMISSLPIEADKYRVALAQYSDKLHSEFHLSTFKGRSPMLNHLRKNFGFIGGSL
QIGKALQEAHRTYFSAPANGRDKKQFPPILVVLASSESEDNVEEASKALRKDGVKIISVGVQKASEENLKAMATSQFHFNLRTVRDLSMFSQNMTHIIKDVIKYK
EGAVDDIFVEACQGPSMADVVFLLDMSINGSEENFDYLKGFLEESVSALDIKENCMRVGLVAYSNETKVINSLSMGINKSEVLQHIQNLSPRTGKAYTGAAIKKL
RKEVFSARNGSRKNQGVPQIAVLVTHRDSEDNVTKAAVNLRREGVTIFTLGIEGASDTQLEKIASHPAEQYVSKLKTFADLAAHNQTFLKKLRNQITHTVSVFSE
RTETLKSGCVDTEEADIYLLIDGSGSTQATDFHEMKTFLSEVVGMFNIAPHKVRVGAVQYADSWDLEFEINKYSNKQDLGKAIENIRQMGGNTNTGAALNFTLSL
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Cusco, 2008 Spanish aCGHASD - - - - 96 100 196
Linkage Studies Top