AutismKB 2.0

Variant Details for DYRK1A


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Basic Information Top
Gene Symbol:DYRK1A ( DYRK,DYRK1,HP86,MNB,MNBH )
Gene Full Name: dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
Band: 21q22.13
Quick LinksEntrez ID:1859; OMIM: 600855; Uniprot ID:DYR1A_HUMAN; ENSEMBL ID: ENSG00000157540; HGNC ID: 3091
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 0 15 0 63 10 0 88
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
No related data!
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
21 38865466 G R Sanger sequencing O'Roak BJ, 2012
21 38845116 * -AT/* p.Ile48LysfsX2 Sanger sequencing O'Roak BJ, 2012
21 38865466 G R c.1098+1G>A Sanger sequencing O'Roak BJ, 2012
21 38877833 * -C/* p.Ala498ProfsX94 Sanger sequencing O'Roak BJ, 2012
21 38845116 CAT C PCR amplification and Sanger s Dong S, 2014
21 38877655 C T Sanger sequencing De Rubeis S, 2014
21 38853069 G G/T c.457G>T p.Glu153* Sanger sequencing Wang T, 2016
21 38877659 G A/G Sanger sequencing deleterious0.9644 Wang T, 2016
21 38862503 C T c.691C>T Stessman HA, 2017
21 38853069 G T c.457G>T p.Glu153Unk Sanger sequencing Li J, 2017
21 38877655 C T c.1309CGA>TGA p.437R>* Fromer M, 2014
21 38850535 AC A Deciphering Developmental , 2015
21 39923246 p.Ile48LysfsX2 O'Roak BJ, 2012
21 39955963 p.Ala498ProfsX94 O'Roak BJ, 2012
21 39943596 G c.1098+1G>A O'Roak BJ, 2012
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
21 39956789 T K c.*47+2T>G O'Roak BJ, 2012
21 38884613 G T c.1755+6003G>T Dang T, 2018
21 38865507 C G c.1098+42C>G Dang T, 2018
21 38858938 G A c.664+22G>A Dang T, 2018
21 38845294 G A c.207+112G>A Dang T, 2018
21 38792661 G A c.-16G>A Dang T, 2018
21 38877579 C T c.1240-7C>T Dang T, 2018
21 38877544 T G c.1240-42T>G Dang T, 2018
21 38877503 T G c.1240-83T>G Dang T, 2018
21 38868591 T G c.1239+31T>G Dang T, 2018
21 38862373 T A c.665-104T>A Dang T, 2018
21 38859017 G A c.664+101G>A Dang T, 2018
21 38858938 G A c.664+22G>A Dang T, 2018
21 38858658 A c.517-111delA Dang T, 2018
21 38858655 A C c.517-114A>C Dang T, 2018
21 38858640 c.517-129_517-126 Dang T, 2018
21 38858628 C A c.517-141C>A Dang T, 2018
21 38858597 G A c.517-172G>A Dang T, 2018
21 38853213 G C c.516+85G>C Dang T, 2018
21 38852927 ATA c.328-13_328-12insATA Dang T, 2018
21 38852905 A T c.328-35A>T Dang T, 2018
21 38852869 A G c.328-71A>G Dang T, 2018
21 38852846 C G c.328-94C>G Dang T, 2018
21 38852793 G A c.328-147G>A Dang T, 2018
21 38852728 G A c.328-212G>A Dang T, 2018
21 38852699 C G c.328-241C>G Dang T, 2018
21 38850470 C G c.208-13C>G Dang T, 2018
21 38844926 C A c.11-60C>A Dang T, 2018
21 38844827 A G c.11-159A>G Dang T, 2018
21 38844811 C T c.11-175C>T Dang T, 2018
21 38844760 T A c.11-226T>A Dang T, 2018
21 38792824 G T c.10+138G>T Dang T, 2018
21 38792790 c.10+104_10+106 Dang T, 2018
21 38792749 T C c.10+63T>C Dang T, 2018
21 38792739 C A c.10+53C>A Dang T, 2018
21 38792696 G T c.10+10G>T Dang T, 2018
21 38884651 C T c.2109C>T p.Thr703Thr Dang T, 2018
21 38877861 G T c.1515G>T p.S505S Dang T, 2018
21 38877762 T C c.1416T>C p.Y472Y Dang T, 2018
21 38877681 G A c.1335G>A p.T445T Dang T, 2018
21 38862685 A G c.873A>G p.Glu291Glu Dang T, 2018
21 38862547 C T c.735C>T p.L245L Dang T, 2018
21 38852972 A G c.360A>G p.Q120Q Dang T, 2018
21 38850536 C T c.261C>T p.D87D Dang T, 2018
21 38845173 A G c.198A>G p.L66L Dang T, 2018
21 38845144 T C c.169T>C p.S57P Dang T, 2018
21 38853080 G A c.468G>A p.M156I Dang T, 2018
21 38845158 G C c.183G>C p.Q61H Dang T, 2018
21 38858835 G A c.583G>A p.A195T Dang T, 2018
21 38852967 C T c.355C>T p.H119Y Dang T, 2018
21 38877803 c.1457G>GA p.G486D Dang T, 2018
21 38877719 G T c.1373G>T p.R458M Dang T, 2018
21 38862589 G T c.777G>T p.L259F Dang T, 2018
21 38853010 G A c.398G>A p.R133Q Dang T, 2018
21 38852988 G T c.376G>T p.D126Y Dang T, 2018
21 38862527 G T c.715G>T p.E239X Dang T, 2018
21 38858865 C T c.613C>T p.R205X Dang T, 2018
21 38853100 C C/G Y Wang T, 2016
21 38865398 T C/T Y Wang T, 2016
21 38845108 C C/G Y Wang T, 2016
21 38868526 C C/G Y Wang T, 2016
21 38878405 G G/T Y Wang T, 2016
21 38878594 A A/T Y Wang T, 2016
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
21 38862575 C T c.763C>T p.Arg255a Bronicki LM, 2015
21 38858865 C T c.613C>T p.Arg205a Bronicki LM, 2015
21 38858873 - 38858876 c.621_624delinsGAA p.Glu208Asnfsa3 Bronicki LM, 2015
21 38865403 T C c.1036T>C p.Ser346Pro deleterious0.9931 Bronicki LM, 2015
21 38862757 c.945dupG p.Gln316Alafsa24 Bronicki LM, 2015
21 38007970 - 39747620 chr21.hg19:g._38007970_ 39747620_del Bronicki LM, 2015
21 38862656 c.844dupA p.Ser282Lysfsa6 Bronicki LM, 2015
21 38884305 C A c.1763C>A p.Thr588Asn deleterious0.8491 Bronicki LM, 2015
21 38868553 c.1232dupG p.Arg413Thrfsa10 Bronicki LM, 2015
c.665-9_665-5delTTCTC van Bon BW, 2016
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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