AutismKB 2.0

Evidence Details for TYK2


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Basic Information Top
Gene Symbol:TYK2 ( JTK1 )
Gene Full Name: tyrosine kinase 2
Band: 19p13.2
Quick LinksEntrez ID:7297; OMIM: 176941; Uniprot ID:TYK2_HUMAN; ENSEMBL ID: ENSG00000105397; HGNC ID: 12440
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TYK2|7297|nucleotide
ATGCCTCTGCGCCACTGGGGGATGGCCAGGGGCAGTAAGCCCGTTGGGGATGGAGCCCAGCCCATGGCTGCCATGGGAGGCCTGAAGGTGCTTCTGCACTGGGCT
GGTCCAGGCGGCGGGGAGCCCTGGGTCACTTTCAGTGAGTCATCGCTGACAGCTGAGGAAGTCTGCATCCACATTGCACATAAAGTTGGTATCACTCCTCCTTGC
TTCAATCTCTTTGCCCTCTTCGATGCTCAGGCCCAAGTCTGGTTGCCCCCAAACCACATCCTAGAGATCCCCAGAGATGCAAGCCTGATGCTATATTTCCGCATA
AGGTTTTATTTCCGGAACTGGCATGGCATGAATCCTCGGGAACCGGCTGTGTACCGTTGTGGGCCCCCAGGAACCGAGGCATCCTCAGATCAGACAGCACAGGGG
ATGCAACTCCTGGACCCAGCCTCATTTGAGTACCTCTTTGAGCAGGGCAAGCATGAGTTTGTGAATGACGTGGCATCACTGTGGGAGCTGTCGACCGAGGAGGAG
ATCCACCACTTTAAGAATGAGAGCCTGGGCATGGCCTTTCTGCACCTCTGTCACCTCGCTCTCCGCCATGGCATCCCCCTGGAGGAGGTGGCCAAGAAGACCAGC
TTCAAGGACTGCATCCCGCGCTCCTTCCGCCGGCATATCCGGCAGCACAGCGCCCTGACCCGGCTGCGCCTTCGGAACGTCTTCCGCAGGTTCCTGCGGGACTTC
CAGCCGGGCCGACTCTCCCAGCAGATGGTCATGGTCAAATACCTAGCCACACTCGAGCGGCTGGCACCCCGCTTCGGCACAGAGCGTGTGCCCGTGTGCCACCTG
AGGCTGCTGGCCCAGGCCGAGGGGGAGCCCTGCTACATCCGGGACAGTGGGGTGGCCCCTACAGACCCTGGCCCTGAGTCTGCTGCTGGGCCCCCAACCCACGAG
GTGCTGGTGACAGGCACTGGTGGCATCCAGTGGTGGCCAGTAGAGGAGGAGGTGAACAAGGAGGAGGGTTCTAGTGGCAGCAGTGGCAGGAACCCCCAAGCCAGC
CTGTTTGGGAAGAAGGCCAAGGCTCACAAGGCAGTCGGCCAGCCGGCAGACAGGCCGCGGGAGCCACTGTGGGCCTACTTCTGTGACTTCCGGGACATCACCCAC
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>TYK2|7297|protein
MPLRHWGMARGSKPVGDGAQPMAAMGGLKVLLHWAGPGGGEPWVTFSESSLTAEEVCIHIAHKVGITPPCFNLFALFDAQAQVWLPPNHILEIPRDASLMLYFRI
RFYFRNWHGMNPREPAVYRCGPPGTEASSDQTAQGMQLLDPASFEYLFEQGKHEFVNDVASLWELSTEEEIHHFKNESLGMAFLHLCHLALRHGIPLEEVAKKTS
FKDCIPRSFRRHIRQHSALTRLRLRNVFRRFLRDFQPGRLSQQMVMVKYLATLERLAPRFGTERVPVCHLRLLAQAEGEPCYIRDSGVAPTDPGPESAAGPPTHE
VLVTGTGGIQWWPVEEEVNKEEGSSGSSGRNPQASLFGKKAKAHKAVGQPADRPREPLWAYFCDFRDITHVVLKEHCVSIHRQDNKCLELSLPSRAAALSFVSLV
DGYFRLTADSSHYLCHEVAPPRLVMSIRDGIHGPLLEPFVQAKLRPEDGLYLIHWSTSHPYRLILTVAQRSQAPDGMQSLRLRKFPIEQQDGAFVLEGWGRSFPS
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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 (0) 0 (0) 0 (1) 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
Chen R, 2017 107 116 128 Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Bi C, 2012 China GAII- - - - 67 -
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.

Simple Query:


  (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