AutismKB 2.0

Evidence Details for STK17B


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Basic Information Top
Gene Symbol:STK17B ( DRAK2 )
Gene Full Name: serine/threonine kinase 17b
Band: 2q32.3
Quick LinksEntrez ID:9262; OMIM: 604727; Uniprot ID:ST17B_HUMAN; ENSEMBL ID: ENSG00000081320; HGNC ID: 11396
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>STK17B|9262|nucleotide
ATGTCGAGGAGGAGATTTGATTGCCGAAGTATTTCAGGCCTACTAACTACAACTCCTCAAATTCCAATAAAAATGGAAAACTTTAATAATTTCTATATACTTACA
TCTAAAGAGCTAGGGAGAGGAAAATTTGCTGTGGTTAGACAATGTATATCAAAATCTACTGGCCAAGAATATGCTGCAAAATTTCTAAAAAAGAGAAGAAGAGGA
CAGGATTGTCGAGCAGAAATTTTACACGAGATTGCTGTGCTTGAATTGGCAAAGTCTTGTCCCCGTGTTATTAATCTTCATGAGGTCTATGAAAATACAAGTGAA
ATCATTTTGATATTGGAATATGCTGCAGGTGGAGAAATTTTCAGCCTGTGTTTACCTGAGTTGGCTGAAATGGTTTCTGAAAATGATGTTATCAGACTCATTAAA
CAAATACTTGAAGGAGTTTATTATCTACATCAGAATAACATTGTACACCTTGATTTAAAGCCACAGAATATATTACTGAGCAGCATATACCCTCTCGGGGACATT
AAAATAGTAGATTTTGGAATGTCTCGAAAAATAGGGCATGCGTGTGAACTTCGGGAAATCATGGGAACACCAGAATATTTAGCTCCAGAAATCCTGAACTATGAT
CCCATTACCACAGCAACAGATATGTGGAATATTGGTATAATAGCATATATGTTGTTAACTCACACATCACCATTTGTGGGAGAAGATAATCAAGAAACATACCTC
AATATTTCTCAAGTTAATGTAGATTATTCGGAAGAAACTTTTTCATCAGTTTCACAGCTGGCCACAGACTTTATTCAGAGCCTTTTAGTAAAAAATCCAGAGAAA
AGACCAACAGCAGAGATATGCCTTTCTCATTCTTGGCTACAGCAGTGGGACTTTGAAAACTTGTTTCACCCTGAAGAAACTTCCAGTTCCTCTCAAACTCAGGAT
CATTCTGTAAGGTCCTCTGAAGACAAGACTTCTAAATCCTCCTGTAATGGAACCTGTGGTGATAGAGAAGACAAAGAGAATATCCCAGAGGATAGCAGCATGGTT
TCCAAAAGATTTCGTTTCGATGACTCATTACCCAATCCCCATGAACTTGTTTCAGATTTGCTCTGTTAG
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>STK17B|9262|protein
MSRRRFDCRSISGLLTTTPQIPIKMENFNNFYILTSKELGRGKFAVVRQCISKSTGQEYAAKFLKKRRRGQDCRAEILHEIAVLELAKSCPRVINLHEVYENTSE
IILILEYAAGGEIFSLCLPELAEMVSENDVIRLIKQILEGVYYLHQNNIVHLDLKPQNILLSSIYPLGDIKIVDFGMSRKIGHACELREIMGTPEYLAPEILNYD
PITTATDMWNIGIIAYMLLTHTSPFVGEDNQETYLNISQVNVDYSEETFSSVSQLATDFIQSLLVKNPEKRPTAEICLSHSWLQQWDFENLFHPEETSSSSQTQD
HSVRSSEDKTSKSSCNGTCGDREDKENIPEDSSMVSKRFRFDDSLPNPHELVSDLLC

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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) 1 (1) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Gallagher, 2003 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
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.

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