AutismKB 2.0

Evidence Details for TCAP


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Basic Information Top
Gene Symbol:TCAP ( CMD1N,LGMD2G,T-cap,TELE,telethonin )
Gene Full Name: titin-cap (telethonin)
Band: 17q12
Quick LinksEntrez ID:8557; OMIM: 604488; Uniprot ID:TELT_HUMAN; ENSEMBL ID: ENSG00000173991; HGNC ID: 11610
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TCAP|8557|nucleotide
ATGGCTACCTCAGAGCTGAGCTGCGAGGTGTCGGAGGAGAACTGTGAGCGCCGGGAGGCCTTCTGGGCAGAATGGAAGGATCTGACACTGTCCACACGGCCCGAG
GAGGGCTGCTCCCTGCATGAGGAGGACACCCAGAGACATGAGACCTACCACCAGCAGGGGCAGTGCCAGGTGCTGGTGCAGCGCTCGCCCTGGCTGATGATGCGG
ATGGGCATCCTCGGCCGTGGGCTGCAGGAGTACCAGCTGCCCTACCAGCGGGTACTGCCGCTGCCCATCTTCACCCCTGCCAAGATGGGCGCCACCAAGGAGGAG
CGTGAGGACACCCCCATCCAGCTTCAGGAGCTGCTGGCGCTGGAGACAGCCCTGGGTGGCCAGTGTGTGGACCGCCAGGAGGTGGCTGAGATCACAAAGCAGCTG
CCCCCTGTGGTGCCTGTCAGCAAGCCCGGTGCACTTCGTCGCTCCCTGTCCCGCTCCATGTCCCAGGAAGCACAGAGAGGCTGA






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>TCAP|8557|protein
MATSELSCEVSEENCERREAFWAEWKDLTLSTRPEEGCSLHEEDTQRHETYHQQGQCQVLVQRSPWLMMRMGILGRGLQEYQLPYQRVLPLPIFTPAKMGATKEE
REDTPIQLQELLALETALGGQCVDRQEVAEITKQLPPVVPVSKPGALRRSLSRSMSQEAQRG



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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 (0) 0 (0) 0 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top