AutismKB 2.0

Evidence Details for TMEM56


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Basic Information Top
Gene Symbol:TMEM56 ( FLJ31842,MGC102912 )
Gene Full Name: transmembrane protein 56
Band: 1p21.3
Quick LinksEntrez ID:148534; OMIM: NA; Uniprot ID:TMM56_HUMAN; ENSEMBL ID: ENSG00000152078; HGNC ID: 26477
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TMEM56|148534|nucleotide
ATGGAGATCAACACAAAACTGCTCATCAGTGTTACCTGTATCAGCTTTTTCACCTTTCAGCTTCTTTTCTACTTTGTAAGTTACTGGTTTTCAGCAAAAGTTTCT
CCAGGTTTCAATAGTCTCAGCTTCAAAAAGAAGATTGAATGGAACTCAAGGGTAGTATCCACATGCCATTCTTTGGTGGTTGGTATTTTTGGCCTGTACATTTTC
TTATTCGATGAGGCTACTAAAGCTGATCCACTTTGGGGTGGTCCATCACTTGCAAACGTGAATATTGCTATTGCCTCAGGCTACCTCATTTCTGATTTGTCCATT
ATAATTTTGTATTGGAAAGTGATTGGTGACAAATTTTTTATAATGCATCATTGTGCGTCCCTGTATGCATACTACCTTGTACTGAAAAATGGAGTGCTGGCATAC
ATTGGGAATTTTCGCCTGCTTGCAGAGCTTTCCAGCCCGTTTGTGAATCAGCGGTGGTTCTTTGAAGCTCTGAAGTATCCCAAGTTTTCTAAAGCTATCGTTATC
AATGGAATACTCATGACAGTAGTATTCTTCATCGTGCGGATTGCCTCAATGCTTCCTCATTATGGCTTCATGTATTCCGTGTATGGAACAGAACCCTACATAAGG
CTTGGAGTTTTAATCCAGTTATCCTGGGTCATTAGTTGTGTTGTTTTGGATGTGATGAATGTCATGTGGATGATCAAAATTTCAAAAGGTTGCATCAAAGTCATC
TCTCACATCAGACAAGAGAAAGCCAAAAATAGTCTTCAGAATGGAAAACTTGATTAA



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>TMEM56|148534|protein
MEINTKLLISVTCISFFTFQLLFYFVSYWFSAKVSPGFNSLSFKKKIEWNSRVVSTCHSLVVGIFGLYIFLFDEATKADPLWGGPSLANVNIAIASGYLISDLSI
IILYWKVIGDKFFIMHHCASLYAYYLVLKNGVLAYIGNFRLLAELSSPFVNQRWFFEALKYPKFSKAIVINGILMTVVFFIVRIASMLPHYGFMYSVYGTEPYIR
LGVLIQLSWVISCVVLDVMNVMWMIKISKGCIKVISHIRQEKAKNSLQNGKLD


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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Neale BM, 2012 175 175 173 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018