AutismKB 2.0

Evidence Details for TPR


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Basic Information Top
Gene Symbol:TPR ( - )
Gene Full Name: translocated promoter region (to activated MET oncogene)
Band: 1q31.1
Quick LinksEntrez ID:7175; OMIM: 189940; Uniprot ID:TPR_HUMAN; ENSEMBL ID: ENSG00000047410; HGNC ID: 12017
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TPR|7175|nucleotide
ATGGCGGCGGTGTTGCAGCAAGTCCTGGAGCGCACGGAGCTGAACAAGCTGCCCAAGTCTGTCCAGAACAAACTTGAAAAGTTCCTTGCTGATCAGCAATCCGAG
ATCGATGGCCTGAAGGGGCGGCATGAGAAATTTAAGGTGGAGAGCGAACAACAGTATTTTGAAATAGAAAAGAGGTTGTCCCACAGTCAGGAGAGACTTGTGAAT
GAAACCCGAGAGTGTCAAAGCTTGCGGCTTGAGCTAGAGAAACTCAACAATCAACTGAAGGCACTAACTGAGAAAAACAAAGAACTTGAAATTGCTCAGGATCGC
AATATTGCCATTCAGAGCCAATTTACAAGAACAAAGGAAGAATTAGAAGCTGAGAAAAGAGACTTAATTAGAACCAATGAGAGACTATCTCAAGAACTTGAATAC
TTAACAGAGGATGTTAAACGTCTGAATGAAAAACTTAAAGAAAGCAATACAACAAAGGGTGAACTTCAGTTAAAATTGGATGAACTTCAAGCTTCTGATGTTTCT
GTTAAGTATCGAGAAAAACGCTTGGAGCAAGAAAAGGAATTGCTACATAGTCAGAATACATGGCTGAATACAGAGTTGAAAACCAAAACTGATGAACTTCTGGCT
CTTGGAAGAGAAAAAGGGAATGAGATTCTAGAGCTTAAATGTAATCTTGAAAATAAAAAAGAAGAGGTTTCTAGACTGGAAGAACAAATGAATGGCTTAAAAACA
TCAAATGAACATCTTCAAAAGCATGTGGAGGATCTGTTGACCAAATTAAAAGAGGCCAAGGAACAACAGGCCAGTATGGAAGAGAAATTCCACAATGAATTAAAT
GCCCACATAAAACTTTCTAATTTGTACAAGAGTGCCGCTGATGACTCAGAAGCAAAGAGCAATGAACTAACCCGGGCAGTAGAGGAACTACACAAACTTTTGAAA
GAAGCTGGTGAAGCCAACAAAGCAATACAAGATCATCTTCTAGAGGTGGAGCAATCCAAAGATCAAATGGAAAAAGAAATGCTTGAGAAAATAGGGAGATTGGAG
AAGGAATTAGAGAATGCAAATGACCTTCTTTCTGCCACAAAACGTAAAGGAGCCATATTGTCTGAAGAAGAGCTTGCCGCCATGTCTCCTACTGCAGCAGCTGTA
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>TPR|7175|protein
MAAVLQQVLERTELNKLPKSVQNKLEKFLADQQSEIDGLKGRHEKFKVESEQQYFEIEKRLSHSQERLVNETRECQSLRLELEKLNNQLKALTEKNKELEIAQDR
NIAIQSQFTRTKEELEAEKRDLIRTNERLSQELEYLTEDVKRLNEKLKESNTTKGELQLKLDELQASDVSVKYREKRLEQEKELLHSQNTWLNTELKTKTDELLA
LGREKGNEILELKCNLENKKEEVSRLEEQMNGLKTSNEHLQKHVEDLLTKLKEAKEQQASMEEKFHNELNAHIKLSNLYKSAADDSEAKSNELTRAVEELHKLLK
EAGEANKAIQDHLLEVEQSKDQMEKEMLEKIGRLEKELENANDLLSATKRKGAILSEEELAAMSPTAAAVAKIVKPGMKLTELYNAYVETQDQLLLEKLENKRIN
KYLDEIVKEVEAKAPILKRQREEYERAQKAVASLSVKLEQAMKEIQRLQEDTDKANKQSSVLERDNRRMEIQVKDLSQQIRVLLMELEEARGNHVIRDEEVSSAD
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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 (1) 0 (0) 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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top