AutismKB 2.0

Variant Details for PRRT2


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Basic Information Top
Gene Symbol:PRRT2 ( DKFZp547J199,FLJ25513,IFITMD1 )
Gene Full Name: proline-rich transmembrane protein 2
Band: 16p11.2
Quick LinksEntrez ID:112476; OMIM: NA; Uniprot ID:PRRT2_HUMAN; ENSEMBL ID: ENSG00000167371; HGNC ID: 30500
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 49 0 0 0 0 0 49
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
AutCNV0000012 16 16p11.2 29671214 30173788 502574 loss external link Sebat, 2007
AutCNV0000018 16 16p11.2 27692499 34542499 6850000 loss external link Weiss, 2008
AutCNV0000017 16 16p11.2 27692499 34542499 6850000 gain external link Weiss, 2008
AutCNV0000233 16 16p11.2 29563450 30266942 703492 loss external link Christian, 2008
AutCNV0000232 16 16p11.2 29563450 30151818 588368 loss external link Christian, 2008
AutCNV0000193 16 16p11.2 29632499 30332499 700000 loss external link Kumar, 2008
AutCNV0000187 16 16p11.2 29652488 30328317 675829 loss external link Marshall, 2008
AutCNV0000186 16 16p11.2 27692499 34542499 6850000 gain external link Marshall, 2008
AutCNV0000185 16 16p11.2 29652488 30177807 525319 gain external link Marshall, 2008
AutCNV0000152 16 16p11.2 27692499 34542499 6850000 gain external link Marshall, 2008
AutCNV0000151 16 16p11.2 29652488 30328317 675829 loss external link Marshall, 2008
AutCNV0000370 16 16p11.2 27692499 34542499 6850000 external link Zwaag, 2009
AutCNV0000369 16 16p11.2 27692499 34542499 6850000 external link Zwaag, 2009
AutCNV0000812 16 16p11.2 29595483 30303348 707865 gain external link Pinto, 2010
AutCNV0000811 16 16p11.2 29647342 30287723 640381 loss external link Pinto, 2010
AutCNV0000810 16 16p11.2 29595483 30219525 624042 loss external link Pinto, 2010
AutCNV0000794 16 16p11.2 29595483 30219525 624042 loss external link Pinto, 2010
AutCNV0000669 16 16p11.2 29592783 30198600 605817 loss external link Shen, 2010
AutCNV0003846 16 16p11.2 29651749 30203695 551946 gain external link Levy, 2011
AutCNV0004349 16 16p11.2 29655864 30177807 521943 loss external link Sanders, 2011
AutCNV0004338 16 16p11.2 29592357 30199805 607448 loss external link Sanders, 2011
AutCNV0003845 16 16p11.2 29649593 30200001 550408 gain external link Levy, 2011
AutCNV0004348 16 16p11.2 29652488 30177807 525319 gain external link Sanders, 2011
AutCNV0004337 16 16p11.2 29592357 30205302 612945 loss external link Sanders, 2011
AutCNV0003844 16 16p11.2 29649593 30176674 527081 gain external link Levy, 2011
AutCNV0004347 16 16p11.2 29652488 30328317 675829 loss external link Sanders, 2011
AutCNV0004336 16 16p11.2 29592357 30215621 623264 loss external link Sanders, 2011
AutCNV0003843 16 16p11.2 29649593 30200001 550408 loss external link Levy, 2011
AutCNV0004346 16 16p11.2 29647342 30263310 615968 loss external link Sanders, 2011
AutCNV0004335 16 16p11.2 29412503 30177807 765304 loss external link Sanders, 2011
AutCNV0003726 16 16p11.2 29647342 30408765 761423 loss external link Gai, 2011
AutCNV0004345 16 16p11.2 29647342 30199805 552463 loss external link Sanders, 2011
AutCNV0003852 16 16p11.2 29673618 30205180 531562 gain external link Levy, 2011
AutCNV0004344 16 16p11.2 29647342 30215621 568279 loss external link Sanders, 2011
AutCNV0003851 16 16p11.2 29665166 30203695 538529 loss external link Levy, 2011
AutCNV0004343 16 16p11.2 29647342 30094180 446838 loss external link Sanders, 2011
AutCNV0003850 16 16p11.2 29665166 30301881 636715 loss external link Levy, 2011
AutCNV0004342 16 16p11.2 29647342 30130493 483151 loss external link Sanders, 2011
AutCNV0003849 16 16p11.2 29656178 30200001 543823 loss external link Levy, 2011
AutCNV0004341 16 16p11.2 29595483 30199805 604322 loss external link Sanders, 2011
AutCNV0003848 16 16p11.2 29651749 30284160 632411 loss external link Levy, 2011
AutCNV0004351 16 16p11.2 29671214 30173788 502574 loss external link Sanders, 2011
AutCNV0000719 16 16p11.2 29592783 30332581 739798 gain external link Bremer, 2011
AutCNV0004340 16 16p11.2 29595483 30239528 644045 loss external link Sanders, 2011
AutCNV0003847 16 16p11.2 29651749 30200001 548252 loss external link Levy, 2011
AutCNV0004350 16 16p11.2 29655864 30223361 567497 gain external link Sanders, 2011
AutCNV0004339 16 16p11.2 29595483 30332203 736720 loss external link Sanders, 2011
AutCNV0005137 19 19p13.3 2940905 3957892 1016987 external link Shin S, 2015
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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