AutismKB 2.0

Evidence Details for TMEM8A


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Basic Information Top
Gene Symbol:TMEM8A ( M83,TMEM6,TMEM8 )
Gene Full Name: transmembrane protein 8A
Band: 16p13.3
Quick LinksEntrez ID:58986; OMIM: NA; Uniprot ID:TMM8A_HUMAN; ENSEMBL ID: ENSG00000129925; HGNC ID: 17205
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TMEM8A|58986|nucleotide
ATGGGCCGGGCTGGCACCGGGACCGGGGGCGAGGCGGTGGCCGCGGTGGTGGCGGGGCCGCTGCTGCTGCTGCTGCTTGCCCGGCCCCCGCCTGCCTCCGCCGGC
TACAGCGGGAAGAGCGAGGTGGGGCTGGTGTCCGAGCACTTCTCGCAGGCCCCGCAGAGGCTGTCCTTCTACAGCTGGTACGGCAGTGCCAGGCTCTTCCGCTTC
CGCGTGCCCCCAGATGCTGTGCTTCTACGCTGGCTCCTGCAGGTCTCCCGGGAGAGCGGCGCTGCCTGCACCGACGCGGAGATCACCGTGCACTTCCGTTCCGGC
GCCCCTCCGGTCATCAACCCGCTGGGCACCAGCTTCCCGGACGACACCGCGGTACAGCCCTCCTTCCAGGTCGGGGTGCCGCTGAGCACCACACCGAGAAGCAAT
GCCTCCGTCAACGTTTCCCACCCGGCCCCCGGGGACTGGTTCGTGGCCGCCCACCTGCCCCCCTCATCCCAGAAGATCGAGTTGAAGGGCTTGGCTCCCACCTGT
GCCTACGTCTTCCAGCCTGAACTGCTGGTCACGCGGGTGGTCGAGATTTCCATCATGGAGCCGGACGTGCCCCTTCCTCAGACCCTCCTCTCCCATCCCAGCTAC
CTCAAGGTCTTTGTCCCCGATTACACGCGGGAGCTTCTGCTGGAGCTGCGGGACTGCGTGTCCAATGGGAGCCTGGGCTGCCCCGTGCGTCTCACCGTGGGCCCG
GTCACCCTGCCTAGCAACTTCCAGAAGGTGCTCACCTGCACCGGTGCCCCCTGGCCCTGCCGCCTGCTGCTGCCCTCACCGCCCTGGGACCGGTGGCTGCAAGTG
ACAGCTGAGAGCCTGGTGGGGCCCCTCGGGACAGTGGCTTTCAGTGCTGTAGCTGCCCTCACAGCTTGCAGGCCACGGAGCGTGACCATCCAGCCCCTTCTGCAG
AGCAGCCAAAACCAGAGCTTCAATGCCTCCTCTGGTCTGCTGTCCCCGAGCCCCGACCACCAGGACCTGGGCAGGAGTGGCAGGGTGGACCGCAGCCCCTTCTGC
CTCACAAACTACCCAGTCACGCGGGAGGACATGGACGTGGTGTCGGTGCACTTCCAGCCCCTGGACAGGGTCTCGGTGAGGGTGTGTTCGGACACGCCCTCCGTG
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>TMEM8A|58986|protein
MGRAGTGTGGEAVAAVVAGPLLLLLLARPPPASAGYSGKSEVGLVSEHFSQAPQRLSFYSWYGSARLFRFRVPPDAVLLRWLLQVSRESGAACTDAEITVHFRSG
APPVINPLGTSFPDDTAVQPSFQVGVPLSTTPRSNASVNVSHPAPGDWFVAAHLPPSSQKIELKGLAPTCAYVFQPELLVTRVVEISIMEPDVPLPQTLLSHPSY
LKVFVPDYTRELLLELRDCVSNGSLGCPVRLTVGPVTLPSNFQKVLTCTGAPWPCRLLLPSPPWDRWLQVTAESLVGPLGTVAFSAVAALTACRPRSVTIQPLLQ
SSQNQSFNASSGLLSPSPDHQDLGRSGRVDRSPFCLTNYPVTREDMDVVSVHFQPLDRVSVRVCSDTPSVMRLRLNTGMDSGGSLTISLRANKTEMRNETVVVAC
VNAASPFLGFNTSLNCTTAFFQGYPLSLSAWSRRANLIIPYPETDNWYLSLQLMCPENAEDCEQAVVHVETTLYLVPCLNDCGPYGQCLLLRRHSYLYASCSCKA
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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 (2) 1 (2) 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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top