AutismKB 2.0

Evidence Details for TMC1


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Basic Information Top
Gene Symbol:TMC1 ( DFNA36,DFNB11,DFNB7 )
Gene Full Name: transmembrane channel-like 1
Band: 9q21.13
Quick LinksEntrez ID:117531; OMIM: 606706; Uniprot ID:TMC1_HUMAN; ENSEMBL ID: ENSG00000165091; HGNC ID: 16513
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TMC1|117531|nucleotide
ATGTCACCCAAAAAAGTACAAATCAAAGTGGAGGAAAAAGAAGACGAGACTGAGGAAAGCTCAAGTGAAGAGGAAGAGGAGGTGGAAGATAAGCTACCTCGAAGA
GAGAGCTTGAGACCAAAGAGGAAACGGACCAGAGATGTTATCAATGAGGATGACCCAGAACCTGAACCAGAGGATGAAGAAACAAGGAAGGCAAGAGAAAAAGAG
AGGAGGAGGAGGCTAAAGAGAGGAGCAGAAGAAGAAGAAATTGATGAAGAGGAATTGGAAAGATTGAAGGCAGAGTTAGATGAGAAAAGACAAATAATTGCTACT
GTCAAATGCAAACCATGGAAGATGGAGAAGAAAATTGAAGTTCTCAAGGAGGCAAAAAAATTTGTGAGTGAAAATGAAGGGGCTCTTGGGAAAGGAAAAGGAAAA
CGGTGGTTTGCATTTAAGATGATGATGGCCAAGAAATGGGCAAAATTCCTCCGTGATTTTGAGAACTTCAAAGCTGCGTGTGTCCCATGGGAAAATAAAATCAAG
GCTATTGAAAGTCAGTTTGGCTCCTCAGTGGCCTCATACTTCCTCTTCTTGAGATGGATGTATGGAGTCAATATGGTTCTCTTTATCCTGACATTTAGCCTCATC
ATGTTGCCAGAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGAC
TTCAATGGTTTGGCACAATATTCCGTTCTCTTTTATGGCTATTATGACAATAAACGAACAATTGGATGGATGAATTTCAGGTTGCCGCTCTCCTATTTTCTAGTG
GGGATTATGTGCATTGGATACAGCTTTCTGGTTGTCCTCAAAGCAATGACCAAAAACATTGGTGATGATGGAGGTGGAGATGACAACACTTTCAATTTCAGCTGG
AAGGTCTTTACCAGCTGGGACTACCTGATCGGCAATCCTGAAACAGCAGACAACAAATTTAATTCTATCACAATGAACTTTAAGGAAGCTATCACAGAAGAAAAA
GCAGCCCAAGTAGAAGAAAACGTCCACTTGATCAGATTCCTGAGGTTTCTGGCTAACTTCTTCGTGTTTCTAACACTTGGAGGGAGTGGATACCTCATCTTTTGG
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>TMC1|117531|protein
MSPKKVQIKVEEKEDETEESSSEEEEEVEDKLPRRESLRPKRKRTRDVINEDDPEPEPEDEETRKAREKERRRRLKRGAEEEEIDEEELERLKAELDEKRQIIAT
VKCKPWKMEKKIEVLKEAKKFVSENEGALGKGKGKRWFAFKMMMAKKWAKFLRDFENFKAACVPWENKIKAIESQFGSSVASYFLFLRWMYGVNMVLFILTFSLI
MLPEYLWGLPYGSLPRKTVPRAEEASAANFGVLYDFNGLAQYSVLFYGYYDNKRTIGWMNFRLPLSYFLVGIMCIGYSFLVVLKAMTKNIGDDGGGDDNTFNFSW
KVFTSWDYLIGNPETADNKFNSITMNFKEAITEEKAAQVEENVHLIRFLRFLANFFVFLTLGGSGYLIFWAVKRSQEFAQQDPDTLGWWEKNEMNMVMSLLGMFC
PTLFDLFAELEDYHPLIALKWLLGRIFALLLGNLYVFILALMDEINNKIEEEKLVKANITLWEANMIKAYNASFSENSTGPPFFVHPADVPRGPCWETMVGQEFV
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 0 (4)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top