AutismKB 2.0

Evidence Details for TMEM139


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Basic Information Top
Gene Symbol:TMEM139 ( FLJ90586 )
Gene Full Name: transmembrane protein 139
Band: 7q34
Quick LinksEntrez ID:135932; OMIM: NA; Uniprot ID:TM139_HUMAN; ENSEMBL ID: ENSG00000178826; HGNC ID: 22058
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TMEM139|135932|nucleotide
ATGGTGCCAATGCACTTACTGGGGAGACTGGAGAAGCCGCTTCTCCTCCTGTGCTGCGCCTCCTTCCTACTGGGGCTGGCTTTGCTGGGCATAAAGACGGACATC
ACCCCCGTTGCTTATTTCTTTCTCACATTGGGTGGCTTCTTCTTGTTTGCCTATCTCCTGGTCCGGTTTCTGGAATGGGGGCTTCGGTCCCAGCTCCAATCAATG
CAGACTGAGAGCCCAGGGCCCTCAGGCAATGCACGGGACAATGAAGCCTTTGAAGTGCCAGTCTATGAAGAGGCCGTGGTGGGACTAGAATCCCAGTGCCGCCCC
CAAGAGTTGGACCAACCACCCCCCTACAGCACTGTTGTGATACCCCCAGCACCTGAGGAGGAACAACCTAGCCATCCAGAGGGGTCCAGGAGAGCCAAACTGGAA
CAGAGGCGAATGGCCTCAGAGGGGTCCATGGCCCAGGAAGGAAGCCCTGGAAGAGCTCCAATCAACCTTCGGCTTCGGGGACCACGGGCTGTGTCCACTGCTCCT
GATCTGCAGAGCTTGGCGGCAGTCCCCACATTAGAGCCTCTGACTCCACCCCCTGCCTATGATGTCTGCTTTGGTCACCCTGATGATGATAGTGTTTTTTATGAG
GACAACTGGGCACCCCCTTAA




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>TMEM139|135932|protein
MVPMHLLGRLEKPLLLLCCASFLLGLALLGIKTDITPVAYFFLTLGGFFLFAYLLVRFLEWGLRSQLQSMQTESPGPSGNARDNEAFEVPVYEEAVVGLESQCRP
QELDQPPPYSTVVIPPAPEEEQPSHPEGSRRAKLEQRRMASEGSMAQEGSPGRAPINLRLRGPRAVSTAPDLQSLAAVPTLEPLTPPPAYDVCFGHPDDDSVFYE
DNWAPP


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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top