AutismKB 2.0

Variant Details for HERC2P4


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Basic Information Top
Gene Symbol:HERC2P4 ( D16F37S5 )
Gene Full Name: hect domain and RLD 2 pseudogene 4
Band: 16p11.2
Quick LinksEntrez ID:440362; OMIM: NA; Uniprot ID:; ENSEMBL ID: ; HGNC ID: 4872
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 27 0 0 0 0 0 27
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000260 16 16p11.2 27692499 34542499 6850000 gain external link Finelli, 2004
AutCNV0000186 16 16p11.2 27692499 34542499 6850000 gain external link Marshall, 2008
AutCNV0000152 16 16p11.2 27692499 34542499 6850000 gain external link Marshall, 2008
AutCNV0000018 16 16p11.2 27692499 34542499 6850000 loss external link Weiss, 2008
AutCNV0000017 16 16p11.2 27692499 34542499 6850000 gain external link Weiss, 2008
AutCNV0000370 16 16p11.2 27692499 34542499 6850000 external link Zwaag, 2009
AutCNV0000606 16 16p11.2 31602569 33307218 1704649 loss external link Gregory, 2009
AutCNV0000369 16 16p11.2 27692499 34542499 6850000 external link Zwaag, 2009
AutCNV0000605 16 16p11.2 31602569 33440115 1837546 loss external link Gregory, 2009
AutCNV0000615 16 16p11.2 32072809 33307218 1234409 loss external link Gregory, 2009
AutCNV0000604 16 16p11.2 31602569 33581281 1978712 loss external link Gregory, 2009
AutCNV0000614 16 16p11.2 31963041 33883010 1919969 loss external link Gregory, 2009
AutCNV0000603 16 16p11.1-11.2 31602569 35124778 3522209 loss external link Gregory, 2009
AutCNV0000613 16 16p11.2 31854441 33883010 2028569 loss external link Gregory, 2009
AutCNV0000602 16 16p11.2 31483977 32954568 1470591 loss external link Gregory, 2009
AutCNV0000612 16 16p11.2 31789611 33581281 1791670 loss external link Gregory, 2009
AutCNV0000601 16 16p11.2 31483977 33406579 1922602 loss external link Gregory, 2009
AutCNV0000611 16 16p11.2 31789611 33883010 2093399 loss external link Gregory, 2009
AutCNV0000600 16 16p11.2 31483977 33883010 2399033 loss external link Gregory, 2009
AutCNV0000610 16 16p11.2 31693990 32825179 1131189 loss external link Gregory, 2009
AutCNV0000599 16 16p11.2 31483977 33898378 2414401 loss external link Gregory, 2009
AutCNV0000609 16 16p11.2 31693990 33307218 1613228 loss external link Gregory, 2009
AutCNV0000598 16 16p11.2 31370960 33307218 1936258 loss external link Gregory, 2009
AutCNV0000608 16 16p11.2 31693990 33883010 2189020 loss external link Gregory, 2009
AutCNV0000597 16 16p11.1-11.2 31150383 35124778 3974395 loss external link Gregory, 2009
AutCNV0000607 16 16p11.1-11.2 31693990 35124778 3430788 loss external link Gregory, 2009
AutCNV0001484 16 16p11.2 32001824 33612830 1611006 gain external link Pinto, 2010
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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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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