AutismKB 2.0

Evidence Details for TMEM111


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Basic Information Top
Gene Symbol:TMEM111 ( POB )
Gene Full Name: transmembrane protein 111
Band: 3p25.3
Quick LinksEntrez ID:55831; OMIM: NA; Uniprot ID:TM111_HUMAN; ENSEMBL ID: ENSG00000125037; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TMEM111|55831|nucleotide
ATGGCAGGGCCAGAACTGTTGCTCGACTCCAACATCCGCCTCTGGGTGGTCCTACCCATCGTTATCATCACTTTCTTCGTAGGCATGATCCGCCACTACGTGTCC
ATCCTGCTGCAGAGCGACAAGAAGCTCACCCAGGAACAAGTATCTGACAGTCAAGTCCTAATTCGAAGCAGAGTCCTCAGGGAAAATGGAAAATACATTCCCAAA
CAGTCTTTCTTGACACGAAAATATTATTTCAACAACCCAGAGGATGGATTTTTCAAAAAAACTAAACGGAAGGTAGTGCCACCTTCTCCTATGACTGATCCTACT
ATGTTGACAGACATGATGAAAGGGAATGTAACAAATGTCCTCCCTATGATTCTTATTGGTGGATGGATCAACATGACATTCTCAGGCTTTGTCACAACCAAGGTC
CCATTTCCACTGACCCTCCGTTTTAAGCCTATGTTACAGCAAGGAATCGAGCTACTCACATTAGATGCATCCTGGGTGAGTTCTGCATCCTGGTACTTCCTCAAT
GTATTTGGGCTTCGGAGCATTTACTCTCTGATTCTGGGCCAAGATAATGCCGCTGACCAATCACGAATGATGCAGGAGCAGATGACGGGAGCAGCCATGGCCATG
CCCGCAGACACAAACAAAGCTTTCAAGACAGAGTGGGAAGCTTTGGAGCTGACGGATCACCAGTGGGCACTAGATGATGTCGAAGAAGAGCTCATGGCCAAAGAC
CTCCACTTCGAAGGCATGTTCAAAAAGGAATTACAGACCTCTATTTTTTGA



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>TMEM111|55831|protein
MAGPELLLDSNIRLWVVLPIVIITFFVGMIRHYVSILLQSDKKLTQEQVSDSQVLIRSRVLRENGKYIPKQSFLTRKYYFNNPEDGFFKKTKRKVVPPSPMTDPT
MLTDMMKGNVTNVLPMILIGGWINMTFSGFVTTKVPFPLTLRFKPMLQQGIELLTLDASWVSSASWYFLNVFGLRSIYSLILGQDNAADQSRMMQEQMTGAAMAM
PADTNKAFKTEWEALELTDHQWALDDVEEELMAKDLHFEGMFKKELQTSIF


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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 (3) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (5)
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