AutismKB 2.0

Evidence Details for DAPK1


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Basic Information Top
Gene Symbol:DAPK1 ( DAPK,DKFZp781I035 )
Gene Full Name: death-associated protein kinase 1
Band: 9q21.33
Quick LinksEntrez ID:1612; OMIM: 600831; Uniprot ID:DAPK1_HUMAN; ENSEMBL ID: ENSG00000196730; HGNC ID: 2674
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DAPK1|1612|nucleotide
ATGACCGTGTTCAGGCAGGAAAACGTGGATGATTACTACGACACCGGCGAGGAACTTGGCAGTGGACAGTTTGCGGTTGTGAAGAAATGCCGTGAGAAAAGCACC
GGCCTCCAGTATGCCGCCAAATTCATCAAGAAAAGGAGGACTAAGTCCAGCCGGCGGGGTGTGAGCCGCGAGGACATCGAGCGGGAGGTCAGCATCCTGAAGGAG
ATCCAGCACCCCAATGTCATCACCCTGCACGAGGTCTATGAGAACAAGACGGACGTCATCCTGATCTTGGAACTCGTTGCAGGTGGCGAGCTGTTTGACTTCTTA
GCTGAAAAGGAATCTTTAACTGAAGAGGAAGCAACTGAATTTCTCAAACAAATTCTTAATGGTGTTTACTACCTGCACTCCCTTCAAATCGCCCACTTTGATCTT
AAGCCTGAGAACATAATGCTTTTGGATAGAAATGTCCCCAAACCTCGGATCAAGATCATTGACTTTGGGTTGGCCCATAAAATTGACTTTGGAAATGAATTTAAA
AACATATTTGGGACTCCAGAGTTTGTCGCTCCTGAGATAGTCAACTATGAACCTCTTGGTCTTGAGGCAGATATGTGGAGTATCGGGGTAATAACCTATATCCTC
CTAAGTGGGGCCTCCCCATTTCTTGGAGACACTAAGCAAGAAACGTTAGCAAATGTATCCGCTGTCAACTACGAATTTGAGGATGAATACTTCAGTAATACCAGT
GCCCTAGCCAAAGATTTCATAAGAAGACTTCTGGTCAAGGATCCAAAGAAGAGAATGACAATTCAAGATAGTTTGCAGCATCCCTGGATCAAGCCTAAAGATACA
CAACAGGCACTTAGTAGAAAAGCATCAGCAGTAAACATGGAGAAATTCAAGAAGTTTGCAGCCCGGAAAAAATGGAAACAATCCGTTCGCTTGATATCACTGTGC
CAAAGATTATCCAGGTCATTCCTGTCCAGAAGTAACATGAGTGTTGCCAGAAGCGATGATACTCTGGATGAGGAAGACTCCTTTGTGATGAAAGCCATCATCCAT
GCCATCAACGATGACAATGTCCCAGGCCTGCAGCACCTTCTGGGCTCATTATCCAACTATGATGTTAACCAACCCAACAAGCACGGGACACCTCCATTACTCATT
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>DAPK1|1612|protein
MTVFRQENVDDYYDTGEELGSGQFAVVKKCREKSTGLQYAAKFIKKRRTKSSRRGVSREDIEREVSILKEIQHPNVITLHEVYENKTDVILILELVAGGELFDFL
AEKESLTEEEATEFLKQILNGVYYLHSLQIAHFDLKPENIMLLDRNVPKPRIKIIDFGLAHKIDFGNEFKNIFGTPEFVAPEIVNYEPLGLEADMWSIGVITYIL
LSGASPFLGDTKQETLANVSAVNYEFEDEYFSNTSALAKDFIRRLLVKDPKKRMTIQDSLQHPWIKPKDTQQALSRKASAVNMEKFKKFAARKKWKQSVRLISLC
QRLSRSFLSRSNMSVARSDDTLDEEDSFVMKAIIHAINDDNVPGLQHLLGSLSNYDVNQPNKHGTPPLLIAAGCGNIQILQLLIKRGSRIDVQDKGGSNAVYWAA
RHGHVDTLKFLSENKCPLDVKDKSGEMALHVAARYGHADVAQLLCSFGSNPNIQDKEEETPLHCAAWHGYYSVAKALCEAGCNVNIKNREGETPLLTASARGYHD
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 0 (2) 0 (0) 1 (1) 0 (0) 9 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Hu, 2006_1 Unknown lymphoblastoid cell lines 3
(-)
monozygotic twins with different severityautism 3
(-)
0.62 Up -
  • Platform: TIGR 40K Human Set
  • ProbeSet: -
  • RefSeq_ID/ EST: AI371096
  • GEO_ID: GSE4187
  • Statistic Method: SAM and corrected by FDR (with MeV)
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
Yuen RK, 2016 200 - 301 Genome-wide characteristics of de novo mutations in autism.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
McCarthy SE, 2014 - Illumina HiSeq2000autism - - - - -
Low Scale Gene Studies Top

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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