AutismKB 2.0

Evidence Details for TMEM39B


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Basic Information Top
Gene Symbol:TMEM39B ( FLJ10315 )
Gene Full Name: transmembrane protein 39B
Band: 1p35.2
Quick LinksEntrez ID:55116; OMIM: NA; Uniprot ID:TM39B_HUMAN; ENSEMBL ID: ENSG00000121775; HGNC ID: 25510
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TMEM39B|55116|nucleotide
ATGGGAGGACGAAGAGGTCCCAACAGGACATCTTACTGTCGAAATCCGCTCTGTGAGCCGGGATCCTCGGGGGGCTCTAGTGGAAGCCACACTTCCAGTGCATCG
GTGACCAGTGTTCGTTCCCGCACCAGGAGCAGTTCTGGAACAGGCCTCTCCAGCCCTCCTCTGGCCACCCAAACTGTTGTGCCTCTACAGCACTGCAAGATCCCC
GAGCTGCCAGTCCAGGCCAGCATTCTGTTTGAGTTGCAGCTCTTCTTCTGCCAGCTCATAGCACTCTTCGTCCACTACATCAACATCTACAAGACAGTGTGGTGG
TATCCACCTTCCCACCCACCCTCCCACACCTCCCTGAACTTCCATCTGATCGACTTCAACTTGCTGATGGTGACCACCATCGTTCTGGGCCGCCGCTTCATTGGG
TCCATCGTGAAGGAGGCCTCTCAGAGGGGGAAGGTCTCCCTCTTTCGCTCCATCCTGCTGTTCCTCACTCGCTTCACCGTTCTCACGGCAACAGGCTGGAGTCTG
TGCCGATCCCTCATCCACCTCTTCAGGACCTACTCCTTCCTGAACCTCCTGTTCCTCTGCTATCCGTTTGGGATGTACATTCCGTTCCTGCAGCTGAATTGCGAC
CTCCGCAAGACAAGCCTCTTCAACCACATGGCCTCCATGGGGCCCCGGGAGGCGGTCAGTGGCCTGGCAAAGAGCCGGGACTACCTCCTGACACTGCGGGAGACG
TGGAAGCAGCACACAAGACAGCTGTATGGCCCGGACGCCATGCCCACCCATGCCTGCTGCCTGTCACCCAGCCTCATCCGCAGTGAGGTGGAGTTCCTCAAGATG
GACTTCAACTGGCGCATGAAGGAAGTGCTCGTCAGCTCCATGCTGAGCGCCTACTATGTGGCCTTTGTGCCTGTCTGGTTCGTGAAGAACACACATTACTATGAC
AAGCGCTGGTCCTGTGAACTCTTCCTGCTGGTGTCCATCAGCACCTCCGTGATCCTCATGCAGCACCTGCTGCCTGCCAGCTACTGTGACCTGCTGCACAAGGCC
GCCGCCCATCTGGGCTGTTGGCAGAAGGTGGACCCAGCGCTGTGCTCCAACGTGCTGCAGCACCCGTGGACTGAAGAATGCATGTGGCCGCAGGGCGTGCTGGTG
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>TMEM39B|55116|protein
MGGRRGPNRTSYCRNPLCEPGSSGGSSGSHTSSASVTSVRSRTRSSSGTGLSSPPLATQTVVPLQHCKIPELPVQASILFELQLFFCQLIALFVHYINIYKTVWW
YPPSHPPSHTSLNFHLIDFNLLMVTTIVLGRRFIGSIVKEASQRGKVSLFRSILLFLTRFTVLTATGWSLCRSLIHLFRTYSFLNLLFLCYPFGMYIPFLQLNCD
LRKTSLFNHMASMGPREAVSGLAKSRDYLLTLRETWKQHTRQLYGPDAMPTHACCLSPSLIRSEVEFLKMDFNWRMKEVLVSSMLSAYYVAFVPVWFVKNTHYYD
KRWSCELFLLVSISTSVILMQHLLPASYCDLLHKAAAHLGCWQKVDPALCSNVLQHPWTEECMWPQGVLVKHSKNVYKAVGHYNVAIPSDVSHFRFHFFFSKPLR
ILNILLLLEGAVIVYQLYSLMSSEKWHQTISLALILFSNYYAFFKLLRDRLVLGKAYSYSASPQRDLDHRFS
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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) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 10 (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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top