AutismKB 2.0

Evidence Details for TMEM132B


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:TMEM132B ( KIAA1786,KIAA1906 )
Gene Full Name: transmembrane protein 132B
Band: 12q24.31
Quick LinksEntrez ID:114795; OMIM: NA; Uniprot ID:T132B_HUMAN; ENSEMBL ID: ENSG00000139364; HGNC ID: 29397
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TMEM132B|114795|nucleotide
ATGTTTGGTGCAGCATCCAGAATGGACACCACTGCTGTCTGCACCGGGGGAGTGACAGAGAGTCGAGGGATTGTGGATAGCCTGCAGAAGTTTTCCTCGCTCCCT
GCTTACCTCCCCACGAACTTGCACATCTCCAATGCAGAGGAGTCCTTTTTCCTTAAAGAAGCCAACCAAGACCTCACAAGGAACTCCAGTCTGCAGGCCCGGGTG
GAGCCATTCTTCATCTACCGAGCCAGGACACCCCCTATTATCAATGCCAGCTATGGCCCATTTTCAGTGGAGAAGATAATCCCCCAGGAGCTCCTGTTGACATCT
ACAGCCTTTGGAAACATGGACAAATTTCCCTTCAACTGGAAATTGAAATCCCACATCCTTGACAGCTCCATCTACTCCAACAGACCCAAAGTGCAGACCTTGTTT
TATGTCACTGGCATGGGCTGGGATGACAGTGACCTTACGGAAGATCTACCCTGTGTCAAGATGTTTGCTTTCCCTGAGGCCAGGGAAGTGGCAGCCAGCTGTCGG
CTGCAAGGGGCCCCAGGGCTGTGTGTGGCTGAGCTGGAGCTGCTGCCCGAGTGGTTCAGCTCAGGCCTGGACCTGGAACCAGAGGAGGAGATCCCAGCCCTGCTC
GGGGGCACCACGATGGAGCTCTTCTTCACGCTCTACCCAGCTGACAAGGCTGGCCAGTGTCCTCTGGAGGAGGAAGGCAAGTGGGAGAACAATATCCACTCGGGC
CTGGAGAGCCCCCAGCAAGCGTTTCCAGCCCGAGAGAGGATTGGGAGTGTGGTGGTCTACCCAACCCAAGATGATCTGAAGTGGTCCCTGGTGAGCTTGGACGAG
AATGTGGTCATCTCGGTACCTCTGAATCTAGTCCGGGAAGGGGACACGGCCACCTTTTTGGTCTCTCTGACCAGTAGCTCTGTGGCAGACCAGTTCACTCTTAGA
ATTAAGGCGGCAGCAGGTGTGAAGATAACGGCAGTGAGAGTCAGCAGTGAGGACCAATGGGCAGTCCAGGAGGAAATTGATAATGGCAGCACTCAGACGTCGGCC
ACCCTCACCTGCATGGGCCATCGCCCGGACACGCAGAGCAGGGTAAATGGATCCTTCTATGAGATCTTGCAAGTGGACTTTGGAATTGATAATAGCAGTGACCTG
Show »

>TMEM132B|114795|protein
MFGAASRMDTTAVCTGGVTESRGIVDSLQKFSSLPAYLPTNLHISNAEESFFLKEANQDLTRNSSLQARVEPFFIYRARTPPIINASYGPFSVEKIIPQELLLTS
TAFGNMDKFPFNWKLKSHILDSSIYSNRPKVQTLFYVTGMGWDDSDLTEDLPCVKMFAFPEAREVAASCRLQGAPGLCVAELELLPEWFSSGLDLEPEEEIPALL
GGTTMELFFTLYPADKAGQCPLEEEGKWENNIHSGLESPQQAFPARERIGSVVVYPTQDDLKWSLVSLDENVVISVPLNLVREGDTATFLVSLTSSSVADQFTLR
IKAAAGVKITAVRVSSEDQWAVQEEIDNGSTQTSATLTCMGHRPDTQSRVNGSFYEILQVDFGIDNSSDLAGAQQITWQVEYPIEDSMSELVVSEIFVSQTTFVG
IVPLAMDTEVLNTAILTGKPVSVPVKVVGVQEDGSVVDVSESVECKSADEDVIKVSNNCDSIFVNGKEMKSKVDTIVNFTHQHFTSQFEVTVWAPRLPLQIEISD
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 1 (4) 0 (4) 1 (1) 0 (0) 0 (0) 0 (3) 0 (0) 0 (0) 0 (0) 6 (12)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 4
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Salyakina, 2010_2 Replication Illumina HumanHap 550K BeadChip 110 -
(-)
AS -
(3-21)
-
>70
Salyakina, 2010_1 Discovery Illumina HumanHap 550K BeadChip 124 -
(-)
AS -
(3-21)
-
>70
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
MIXED/OTHERS
Anney R, 2012_1 - Illumina Infinium 1M-single SNP microarray; Illumina 1M-duo microarray 1301 -
(-)
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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Auranen, 2002 Finland microsatellite-based genomic screenautism 19 - 19 - 54 - -
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Fromer M, 2014 - - 94 De novo mutations in schizophrenia implicate synaptic networks.
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.

Simple Query:


  (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