AutismKB 2.0

Variant Details for TRPM1


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Basic Information Top
Gene Symbol:TRPM1 ( CSNB1C,LTRPC1,MLSN1 )
Gene Full Name: transient receptor potential cation channel, subfamily M, member 1
Band: 15q13.3
Quick LinksEntrez ID:4308; OMIM: 603576; Uniprot ID:TRPM1_HUMAN; ENSEMBL ID: ENSG00000134160; HGNC ID: 7146
Relate to Another Database: SFARIGene; denovo-db
Variant Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
Genetic Category CNVs/SVs de novo Mutations Mosaics SNVs NGS Other Mutations Low-Scale Gene Mutations Linkage Regions Total
Number 34 1 0 0 0 1 36
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000284 15 15q11-13 gain Wolpert, 2000
AutCNV0000273 15 15q11.2-13 gain Wassink, 2001
AutCNV0000272 15 15q11.2-13 loss Wassink, 2001
AutCNV0000258 15 15q11-13 gain Silva, 2002
AutCNV0000290 15 15q11-13 gain Keller, 2003
AutCNV0000287 15 15p11-q13 20330217 32990417 12660200 gain external link Sahoo, 2005
AutCNV0000133 15 15q11-13 25184942 31748742 6563800 gain external link Jacquemont, 2006
AutCNV0000279 15 15q11.2-13 gain Wassink, 2007
AutCNV0000010 15 15q11-13.33 20266957 32969479 12702522 gain external link Sebat, 2007
AutCNV0000268 15 15q11-13 25257428 33573585 8316157 gain external link Kwasnicka-Crawford, 2007
AutCNV0000016 15 15q11-13 gain Weiss, 2008
AutCNV0000229 15 15q13.3 31292110 31663667 371557 gain external link Christian, 2008
AutCNV0000181 15 15q11.2-q13.3 20116186 32511508 12395322 gain external link Marshall, 2008
AutCNV0000149 15 15q11.2-13.3 20167086 32511555 12344469 gain external link Marshall, 2008
AutCNV0000148 15 15q11.2-13.3 20116186 32511508 12395322 gain external link Marshall, 2008
AutCNV0000676 15 15q11-13 gain Bremer, 2009
AutCNV0000590 15 15q13.2-13.3 31009003 32348522 1339519 gain external link Gregory, 2009
AutCNV0000424 15 15q13.1 28999241 32414903 3415662 loss external link Gregory, 2009
AutCNV0000393 15 15q13.3 30949625 32899538 1949913 loss external link Pagnamenta, 2009
AutCNV0000305 15 15q13.2-13.3 31115047 31617311 502264 gain external link Miller, 2009
AutCNV0000304 15 15q13.2-13.3 30931844 32861626 1929782 gain external link Miller, 2009
AutCNV0000754 15 15q13.2-13.3 30918248 32648871 1730623 loss external link Pinto, 2010
AutCNV0000844 15 15q13.1-13.3 28963100 32648871 3685771 loss external link Pinto, 2010
AutCNV0000717 15 15q13.2-q13.3 30653877 32635959 1982082 gain external link Bremer, 2011
AutCNV0004543 15 15q13.3 31353659 31392856 39197 loss external link Nord, 2011
AutCNV0004320 15 15q13.2-q13.3 30936285 32451488 1515203 gain external link Sanders, 2011
AutCNV0004319 15 15q13.2-q13.3 30936285 32444196 1507911 gain external link Sanders, 2011
AutCNV0004318 15 15q13.2-q13.3 30927210 32561020 1633810 loss external link Sanders, 2011
AutCNV0004313 15 15q11.2-q13.3 20266957 32969479 12702522 gain external link Sanders, 2011
AutCNV0004312 15 15q11.2-q13.3 20167086 32511555 12344469 gain external link Sanders, 2011
AutCNV0004311 15 15q11.1-q13.3 20116186 32511508 12395322 gain external link Sanders, 2011
AutCNV0003837 15 15q13.2-q13.3 31076701 32454043 1377342 gain external link Levy, 2011
AutCNV0004950 13 41104610 41912340 807730 gain external link Brand H, 2015
AutCNV0005116 15 15q11.2 22769771 23096921 327150 gain external link Kanduri C, 2016
NGS de novo Mutations Top
iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
Chr Pos Ref Alt Coding AA Validated Method iFish Prediction iFish Probability Reference
15 31330304 G C PCR or Sanger sequencingneutral0.476 Iossifov I, 2014
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
No related data!
NGS Other Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
AutLD0000155 15q13.1-q14 15 rs8033248 4.09 - - Allen-Brady, 2010




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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


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