AutismKB 2.0

Evidence Details for IL17RA


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:IL17RA ( CD217,CDw217,IL-17RA,IL17R,MGC10262,hIL-17R )
Gene Full Name: interleukin 17 receptor A
Band: 22q11.1
Quick LinksEntrez ID:23765; OMIM: 605461; Uniprot ID:I17RA_HUMAN; ENSEMBL ID: ENSG00000177663; HGNC ID: 5985
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IL17RA|23765|nucleotide
ATGGGGGCCGCACGCAGCCCGCCGTCCGCTGTCCCGGGGCCCCTGCTGGGGCTGCTCCTGCTGCTCCTGGGCGTGCTGGCCCCGGGTGGCGCCTCCCTGCGACTC
CTGGACCACCGGGCGCTGGTCTGCTCCCAGCCGGGGCTAAACTGCACGGTCAAGAATAGTACCTGCCTGGATGACAGCTGGATTCACCCTCGAAACCTGACCCCC
TCCTCCCCAAAGGACCTGCAGATCCAGCTGCACTTTGCCCACACCCAACAAGGAGACCTGTTCCCCGTGGCTCACATCGAATGGACACTGCAGACAGACGCCAGC
ATCCTGTACCTCGAGGGTGCAGAGTTATCTGTCCTGCAGCTGAACACCAATGAACGTTTGTGCGTCAGGTTTGAGTTTCTGTCCAAACTGAGGCATCACCACAGG
CGGTGGCGTTTTACCTTCAGCCACTTTGTGGTTGACCCTGACCAGGAATATGAGGTGACCGTTCACCACCTGCCCAAGCCCATCCCTGATGGGGACCCAAACCAC
CAGTCCAAGAATTTCCTTGTGCCTGACTGTGAGCACGCCAGGATGAAGGTAACCACGCCATGCATGAGCTCAGGCAGCCTGTGGGACCCCAACATCACCGTGGAG
ACCCTGGAGGCCCACCAGCTGCGTGTGAGCTTCACCCTGTGGAACGAATCTACCCATTACCAGATCCTGCTGACCAGTTTTCCGCACATGGAGAACCACAGTTGC
TTTGAGCACATGCACCACATACCTGCGCCCAGACCAGAAGAGTTCCACCAGCGATCCAACGTCACACTCACTCTACGCAACCTTAAAGGGTGCTGTCGCCACCAA
GTGCAGATCCAGCCCTTCTTCAGCAGCTGCCTCAATGACTGCCTCAGACACTCCGCGACTGTTTCCTGCCCAGAAATGCCAGACACTCCAGAACCAATTCCGGAC
TACATGCCCCTGTGGGTGTACTGGTTCATCACGGGCATCTCCATCCTGCTGGTGGGCTCCGTCATCCTGCTCATCGTCTGCATGACCTGGAGGCTAGCTGGGCCT
GGAAGTGAAAAATACAGTGATGACACCAAATACACCGATGGCCTGCCTGCGGCTGACCTGATCCCCCCACCGCTGAAGCCCAGGAAGGTCTGGATCATCTACTCA
Show »

>IL17RA|23765|protein
MGAARSPPSAVPGPLLGLLLLLLGVLAPGGASLRLLDHRALVCSQPGLNCTVKNSTCLDDSWIHPRNLTPSSPKDLQIQLHFAHTQQGDLFPVAHIEWTLQTDAS
ILYLEGAELSVLQLNTNERLCVRFEFLSKLRHHHRRWRFTFSHFVVDPDQEYEVTVHHLPKPIPDGDPNHQSKNFLVPDCEHARMKVTTPCMSSGSLWDPNITVE
TLEAHQLRVSFTLWNESTHYQILLTSFPHMENHSCFEHMHHIPAPRPEEFHQRSNVTLTLRNLKGCCRHQVQIQPFFSSCLNDCLRHSATVSCPEMPDTPEPIPD
YMPLWVYWFITGISILLVGSVILLIVCMTWRLAGPGSEKYSDDTKYTDGLPAADLIPPPLKPRKVWIIYSADHPLYVDVVLKFAQFLLTACGTEVALDLLEEQAI
SEAGVMTWVGRQKQEMVESNSKIIVLCSRGTRAKWQALLGRGAPVRLRCDHGKPVGDLFTAAMNMILPDFKRPACFGTYVVCYFSEVSCDGDVPDLFGAAPRYPL
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (1) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 12 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Roubertie, 2001 - FISHautism - - - - 1 - 1
Niklasson, 2002 Sweden FISHautism - - - - 1 - 1
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
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