AutismKB 2.0

Variant Details for LOC727924


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Basic Information Top
Gene Symbol:LOC727924 ( FLJ40279 )
Gene Full Name: -
Band: 15q11.2
Quick LinksEntrez ID:727924; OMIM: NA; Uniprot ID:; ENSEMBL ID: ; HGNC ID:
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 30 0 0 0 0 0 30
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
AutCNV0000288 15 15p11-q13 20330217 28910301 8580084 gain external link Sahoo, 2005
AutCNV0000287 15 15p11-q13 20330217 32990417 12660200 gain external link Sahoo, 2005
AutCNV0000010 15 15q11-13.33 20266957 32969479 12702522 gain external link Sebat, 2007
AutCNV0000279 15 15q11.2-13 gain Wassink, 2007
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
AutCNV0000016 15 15q11-13 gain Weiss, 2008
AutCNV0000181 15 15q11.2-q13.3 20116186 32511508 12395322 gain external link Marshall, 2008
AutCNV0000577 15 15q11.1-11.2 20003726 22563581 2559855 loss external link Gregory, 2009
AutCNV0000576 15 15q11.1-11.2 20003726 23502180 3498454 gain external link Gregory, 2009
AutCNV0000676 15 15q11-13 gain Bremer, 2009
AutCNV0000585 15 15q11.1-11.2 20003726 23710116 3706390 gain external link Gregory, 2009
AutCNV0000584 15 15q11.1-11.2 20003726 22563581 2559855 gain external link Gregory, 2009
AutCNV0000583 15 15q11.1-11.2 20003726 22663224 2659498 loss external link Gregory, 2009
AutCNV0000582 15 15q11.1-11.2 20003726 22698376 2694650 loss external link Gregory, 2009
AutCNV0000581 15 15q11.1-11.2 20003726 22563581 2559855 gain external link Gregory, 2009
AutCNV0000580 15 15q11.1-11.2 20003726 22563581 2559855 loss external link Gregory, 2009
AutCNV0000578 15 15q11.1-11.2 20003726 23982942 3979216 loss external link Gregory, 2009
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
AutCNV0004314 15 15q11.2-q13.1 22265649 28460519 6194870 gain external link Sanders, 2011
AutCNV0004313 15 15q11.2-q13.3 20266957 32969479 12702522 gain external link Sanders, 2011
AutCNV0004661 15 20172544 22835945 2663401 gain external link Laplana M, 2014
AutCNV0004861 22 22q13.3 49033233 51193680 2160447 loss external link Moreira DP, 2014
AutCNV0004862 2 2q13 110453976 111084885 630909 gain external link Moreira DP, 2014
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
No related data!
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
No related data!




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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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