AutismKB 2.0

Evidence Details for LTK


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Basic Information Top
Gene Symbol:LTK ( TYK1 )
Gene Full Name: leukocyte receptor tyrosine kinase
Band: 15q15.1
Quick LinksEntrez ID:4058; OMIM: 151520; Uniprot ID:LTK_HUMAN; ENSEMBL ID: ENSG00000062524; HGNC ID: 6721
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LTK|4058|nucleotide
ATGGGCTGCTGGGGACAGCTGCTGGTGTGGTTCGGAGCCGCGGGCGCCATTCTCTGCTCTAGCCCGGGGTCCCAGGAGACTTTTCTGCGGTCCTCGCCCCTGCCG
CTGGCAAGTCCCAGCCCCCGGGACCCGAAAGTCAGCGCCCCGCCTAGTATCTTGGAGCCAGCCTCCCCGCTGAATTCTCCGGGCACCGAGGGGTCTTGGCTGTTT
TCTACCTGCGGGGCCAGCGGCCGGCATGGGCCCACACAGACACAATGTGACGGGGCGTACGCGGGGACCAGCGTGGTGGTGACCGTGGGGGCCGCCGGGCAGCTG
AGAGGCGTGCAGCTGTGGCGCGTGCCGGGCCCTGGCCAGTATCTGATCTCAGCCTACGGAGCCGCGGGCGGCAAAGGCGCCAAGAACCACCTGTCGCGGGCGCAT
GGCGTCTTCGTCTCAGCAATCTTCTCCCTCGGTCTCGGGGAGTCGCTGTACATCCTGGTGGGGCAGCAGGGAGAGGACGCCTGTCCCGGAGGTAGCCCGGAGAGC
CAGCTCGTCTGCCTCGGGGAGTCTCGAGCCGTTGAAGAGCACGCGGCGATGGATGGGAGCGAAGGGGTCCCGGGGTCGCGGCGCTGGGCGGGAGGTGGCGGGGGT
GGCGGGGGCGCCACCTACGTTTTCCGGGTGCGCGCTGGCGAGCTGGAACCGTTGCTGGTGGCGGCCGGAGGCGGCGGTCGGGCCTACCTGAGGCCGCGGGACCGA
GGCCGGACTCAGGCCTCCCCCGAGAAACTGGAGAACCGCTCGGAGGCGCCCGGGAGCGGCGGGAGAGGCGGGGCGGCAGGGGGCGACGCTTCAGAGACTGACAAC
CTCTGGGCTGATGGGGAAGATGGAGTATCCTTCATACACCCCAGCAGCGAGCTCTTCCTGCAGCCTCTGGCAGTCACCGAGAACCACGGAGAGGTAGAGATCCGA
AGGCACCTCAACTGCAGTCACTGCCCTTTGAGAGACTGCCAATGGCAGGCAGAGCTCCAGCTGGCTGAATGCCTGTGCCCAGAAGGCATGGAGCTAGCTGTGGAT
AACGTCACCTGCATGGACCTGCACAAGCCCCCAGGCCCTCTGGTTCTGATGGTGGCTGTGGTGGCAACCTCAACACTGAGCCTCCTTATGGTGTGTGGGGTCCTG
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>LTK|4058|protein
MGCWGQLLVWFGAAGAILCSSPGSQETFLRSSPLPLASPSPRDPKVSAPPSILEPASPLNSPGTEGSWLFSTCGASGRHGPTQTQCDGAYAGTSVVVTVGAAGQL
RGVQLWRVPGPGQYLISAYGAAGGKGAKNHLSRAHGVFVSAIFSLGLGESLYILVGQQGEDACPGGSPESQLVCLGESRAVEEHAAMDGSEGVPGSRRWAGGGGG
GGGATYVFRVRAGELEPLLVAAGGGGRAYLRPRDRGRTQASPEKLENRSEAPGSGGRGGAAGGDASETDNLWADGEDGVSFIHPSSELFLQPLAVTENHGEVEIR
RHLNCSHCPLRDCQWQAELQLAECLCPEGMELAVDNVTCMDLHKPPGPLVLMVAVVATSTLSLLMVCGVLILGGAWPGPVLASATRCHRGFPSQCYSAQTLPELC
SPQDELDFLMEALIISKFRHQNIVRCVGLSLRATPRLILLELMSGGDMKSFLRHSRPHLGQPSPLVMRDLLQLAQDIAQGCHYLEENHFIHRDIAARNCLLSCAG
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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) 1 (1) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 12 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2010 USA SNP-based genomic screenASD 40 - 40 - 192 461 653
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
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

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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