AutismKB 2.0

Evidence Details for VRK1


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Basic Information Top
Gene Symbol:VRK1 ( MGC117401,MGC138280,MGC142070,PCH1 )
Gene Full Name: vaccinia related kinase 1
Band: 14q32.2
Quick LinksEntrez ID:7443; OMIM: 602168; Uniprot ID:VRK1_HUMAN; ENSEMBL ID: ENSG00000100749; HGNC ID: 12718
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>VRK1|7443|nucleotide
ATGCCTCGTGTAAAAGCAGCTCAAGCTGGAAGACAGAGCTCTGCAAAGAGACATCTTGCAGAACAATTTGCAGTTGGAGAGATAATAACTGACATGGCAAAAAAG
GAATGGAAAGTAGGATTACCCATTGGCCAAGGAGGCTTTGGCTGTATATATCTTGCTGATATGAATTCTTCAGAGTCAGTTGGCAGTGATGCACCTTGTGTTGTA
AAAGTGGAACCCAGTGACAATGGACCTCTTTTTACTGAATTAAAGTTCTACCAACGAGCTGCAAAACCAGAGCAAATTCAGAAATGGATTCGTACCCGTAAGCTG
AAGTACCTGGGTGTTCCTAAGTATTGGGGGTCTGGTCTACATGACAAAAATGGAAAAAGTTACAGGTTTATGATAATGGATCGCTTTGGGAGTGACCTTCAGAAA
ATATATGAAGCAAATGCCAAAAGGTTTTCTCGGAAAACTGTCTTGCAGCTAAGCTTAAGAATTCTGGATATTCTGGAATATATTCACGAGCATGAGTATGTGCAT
GGAGATATCAAGGCCTCAAATCTTCTTCTGAACTACAAGAATCCTGACCAGGTGTACTTGGTAGATTATGGCCTTGCTTATCGGTACTGCCCAGAAGGAGTTCAT
AAAGAATACAAAGAAGACCCCAAAAGATGTCACGATGGCACTATTGAATTCACGAGCATCGATGCACACAATGGCGTGGCCCCATCAAGACGTGGTGATTTGGAA
ATACTTGGTTATTGCATGATCCAATGGCTTACTGGCCATCTTCCTTGGGAGGATAATTTGAAAGATCCTAAATATGTTAGAGATTCCAAAATTAGATACAGAGAA
AATATTGCAAGTTTGATGGACAAATGTTTTCCTGAGAAAAACAAACCAGGTGAAATTGCCAAATACATGGAAACAGTGAAATTACTAGACTACACTGAAAAACCT
CTTTATGAAAATTTACGTGACATTCTTTTGCAAGGACTAAAAGCTATAGGAAGTAAGGATGATGGCAAATTGGACCTCAGTGTTGTGGAGAATGGAGGTTTGAAA
GCAAAAACAATAACAAAGAAGCGAAAGAAAGAAATTGAAGAAAGCAAGGAACCTGGTGTTGAAGATACGGAATGGTCAAACACACAGACAGAGGAGGCCATACAG
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>VRK1|7443|protein
MPRVKAAQAGRQSSAKRHLAEQFAVGEIITDMAKKEWKVGLPIGQGGFGCIYLADMNSSESVGSDAPCVVKVEPSDNGPLFTELKFYQRAAKPEQIQKWIRTRKL
KYLGVPKYWGSGLHDKNGKSYRFMIMDRFGSDLQKIYEANAKRFSRKTVLQLSLRILDILEYIHEHEYVHGDIKASNLLLNYKNPDQVYLVDYGLAYRYCPEGVH
KEYKEDPKRCHDGTIEFTSIDAHNGVAPSRRGDLEILGYCMIQWLTGHLPWEDNLKDPKYVRDSKIRYRENIASLMDKCFPEKNKPGEIAKYMETVKLLDYTEKP
LYENLRDILLQGLKAIGSKDDGKLDLSVVENGGLKAKTITKKRKKEIEESKEPGVEDTEWSNTQTEEAIQTRSRTRKRVQK

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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) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
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
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.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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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