AutismKB 2.0

Evidence Details for TMEM51


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Basic Information Top
Gene Symbol:TMEM51 ( C1orf72,FLJ10199 )
Gene Full Name: transmembrane protein 51
Band: 1p36.21
Quick LinksEntrez ID:55092; OMIM: NA; Uniprot ID:TMM51_HUMAN; ENSEMBL ID: ENSG00000171729; HGNC ID: 25488
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TMEM51|55092|nucleotide
ATGATGGCCCAGTCCAAGGCCAATGGCTCGCACTATGCGCTGACCGCCATCGGCCTGGGGATGCTGGTCCTTGGGGTGATCATGGCCATGTGGAACCTGGTACCC
GGCTTCAGCGCGGCCGAGAAGCCAACAGCTCAGGGCAGCAACAAGACCGAGGTGGGTGGCGGCATCCTCAAGAGCAAGACCTTCTCTGTGGCCTACGTGCTGGTC
GGGGCCGGGGTGATGCTGCTGCTGCTTTCTATCTGCCTGAGTATCAGGGATAAGAGGAAGCAGCGGCAGGGCGAGGACCTGGCCCATGTCCAGCACCCGACAGGC
GCTGGGCCTCACGCCCAGGAGGAAGACAGCCAGGAGGAAGAAGAGGAGGATGAGGAGGCTGCCTCAAGGTACTATGTTCCCAGCTACGAGGAAGTGATGAACACA
AACTACTCAGAAGCAAGGGGAGAGGAGCAGAACCCGAGGTTGAGCATCTCTCTCCCGTCCTATGAGTCACTGACGGGGCTCGACGAGACCACCCCCACATCCACC
AGGGCTGACGTGGAGGCCAGCCCTGGGAACCCCCCTGACAGGCAGAACTCTAAGTTGGCCAAACGACTGAAACCGCTGAAAGTTCGAAGGATTAAATCTGAAAAG
CTTCACCTCAAAGACTTTAGGATCAACCTCCCAGACAAAAACGTCCCTCCTCCCTCGATAGAGCCTTTGACTCCTCCACCGCAGTATGATGAAGTCCAGGAGAAG
GCCCCCGACACCCGGCCGCCCGACTGA



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>TMEM51|55092|protein
MMAQSKANGSHYALTAIGLGMLVLGVIMAMWNLVPGFSAAEKPTAQGSNKTEVGGGILKSKTFSVAYVLVGAGVMLLLLSICLSIRDKRKQRQGEDLAHVQHPTG
AGPHAQEEDSQEEEEEDEEAASRYYVPSYEEVMNTNYSEARGEEQNPRLSISLPSYESLTGLDETTPTSTRADVEASPGNPPDRQNSKLAKRLKPLKVRRIKSEK
LHLKDFRINLPDKNVPPPSIEPLTPPPQYDEVQEKAPDTRPPD


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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 (1) 0 (0) 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
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top