AutismKB 2.0

Evidence Details for TCHH


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Basic Information Top
Gene Symbol:TCHH ( MGC157889,MGC157890,THH,THL,TRHY )
Gene Full Name: trichohyalin
Band: 1q21.3
Quick LinksEntrez ID:7062; OMIM: 190370; Uniprot ID:TRHY_HUMAN; ENSEMBL ID: ENSG00000159450; HGNC ID: 11791
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TCHH|7062|nucleotide
ATGTCTCCACTTCTGAGAAGCATCTGTGACATCACTGAAATTTTCAATCAGTATGTCTCTCATGATTGTGATGGAGCAGCATTAACTAAGAAAGACCTGAAGAAC
CTCCTTGAAAGGGAATTTGGAGCTGTGCTTCGGAGACCACATGACCCTAAGACGGTAGATCTGATCCTGGAACTTCTGGATCTTGACAGTAATGGGCGTGTCGAT
TTCAACGAATTCCTCCTATTTATTTTCAAAGTGGCTCAAGCTTGTTACTATGCTCTCGGCCAGGCCACGGGACTGGATGAGGAGAAGCGAGCCCGGTGTGACGGA
AAGGAGAGCCTGTTACAAGATCGCAGGCAAGAAGAAGACCAAAGGAGATTCGAGCCCCGGGACAGACAACTGGAAGAAGAACCTGGGCAACGACGCAGGCAGAAG
AGGCAGGAACAGGAGAGGGAGCTAGCTGAGGGAGAGGAGCAAAGTGAGAAACAAGAGCGACTTGAACAGCGCGACAGGCAGCGCCGCGACGAGGAGCTGTGGCGG
CAAAGGCAAGAATGGCAAGAACGGGAAGAGCGCCGTGCAGAGGAAGAGCAGCTGCAGAGTTGCAAAGGTCACGAAACTGAGGAGTTTCCAGACGAAGAGCAACTG
CGAAGGCGGGAGCTGCTGGAGCTGAGGAGGAAGGGCCGCGAGGAGAAACAGCAGCAAAGGCGAGAGCGGCAAGACAGAGTGTTCCAGGAGGAAGAAGAGAAAGAG
TGGAGGAAGCGCGAGACAGTGCTCCGGAAGGAAGAAGAGAAGTTGCAGGAAGAGGAGCCGCAGCGGCAAAGAGAGCTCCAGGAGGAAGAAGAGCAGCTACGGAAG
CTGGAGCGGCAAGAGCTGAGGAGGGAGCGCCAGGAGGAAGAGCAGCAGCAGCAAAGGCTGAGGCGCGAGCAGCAACTAAGGCGCAAGCAGGAGGAGGAGAGGCGC
GAGCAGCAGGAGGAGAGGCGCGAGCAGCAGGAGAGGCGCGAGCAGCAGGAGGAGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGGAGGAGAGGCGCGAGCAGCAG
CTGAGGCGCGAGCAGGAGGAGGAGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGGAGGAGGAGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCGC
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>TCHH|7062|protein
MSPLLRSICDITEIFNQYVSHDCDGAALTKKDLKNLLEREFGAVLRRPHDPKTVDLILELLDLDSNGRVDFNEFLLFIFKVAQACYYALGQATGLDEEKRARCDG
KESLLQDRRQEEDQRRFEPRDRQLEEEPGQRRRQKRQEQERELAEGEEQSEKQERLEQRDRQRRDEELWRQRQEWQEREERRAEEEQLQSCKGHETEEFPDEEQL
RRRELLELRRKGREEKQQQRRERQDRVFQEEEEKEWRKRETVLRKEEEKLQEEEPQRQRELQEEEEQLRKLERQELRRERQEEEQQQQRLRREQQLRRKQEEERR
EQQEERREQQERREQQEERREQQLRREQEERREQQLRREQEEERREQQLRREQEEERREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQQLR
REQQLRREQEEERHEQKHEQERREQRLKREQEERRDWLKREEETERHEQERRKQQLKRDQEEERRERWLKLEEEERREQQERREQQLRREQEERREQRLKRQEEE
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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) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (3)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top