AutismKB 2.0

Annotation Detail for IL3RA


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Basic Information Top
Gene Symbol:IL3RA ( CD123,IL3R,IL3RAY,IL3RX,IL3RY,MGC34174,hIL-3Ra )
Gene Full Name: interleukin 3 receptor, alpha (low affinity)
Band: Xp22.3 and Yp13.3
Quick LinksEntrez ID:3563; OMIM: 308385,430000; Uniprot ID:IL3RA_HUMAN; ENSEMBL ID: ENSG00000185291; HGNC ID: 6012
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
46N-linked (GlcNAc...) (Potential).
64N-linked (GlcNAc...) (Potential).
80N-linked (GlcNAc...) (Potential).
109N-linked (GlcNAc...) (Potential).
212N-linked (GlcNAc...) (Potential).
218N-linked (GlcNAc...) (Potential).
286WSXWS motif.
342Box 1 motif.
Location(AA) Modifications Resource
46N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
64N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
80N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
109N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
212N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
218N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
15S-palmitoylHMM predict
46N-linkedHMM predict
58Phosphotyrosine(INSR)HMM predict
64N-linkedHMM predict
65N-linkedHMM predict
80N-linkedHMM predict
109N-linkedHMM predict
175Phosphoserine(PKB)HMM predict
175Phosphoserine(IKK)HMM predict
175Phosphoserine(CK1)HMM predict
177Phosphoserine(CK1)HMM predict
177Phosphoserine(ATM)HMM predict
212N-linkedHMM predict
218N-linkedHMM predict
279Phosphotyrosine(SRC)HMM predict
287Phosphothreonine(MAPK)HMM predict
301Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002183
  • Location:chrX 1415508-1461580
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 1408696 1408892 196 6715
TFAP2C MCF7GSE21234 1402238 1402526 288 13127
hScc1 BcellGSE12603 1408696 1408892 196 6715
hScc1 G2GSE9613 1408696 1408892 196 6715
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 1420411 1420772 361 0
CTCF G2GSE9613 1434382 1434778 396 0
CTCF G2GSE9613 1437038 1437233 195 0
CTCF G2GSE9613 1457110 1457716 606 0
CTCF G2GSE9613 1458437 1458621 184 0
CTCF G2GSE9613 1461187 1461619 432 0
RARA MCF7GSE15244 1431732 1433007 1275 0
hScc1 BcellGSE12603 1420448 1420772 324 0
hScc1 BcellGSE12603 1457110 1457478 368 0
hScc1 G2GSE9613 1425538 1425873 335 0
hScc1 G2GSE9613 1457110 1457716 606 0
hScc1 G2GSE9613 1461262 1461441 179 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
27304 mRNA IL3RA chrX 1499187 1545408 302 EST chrX 1530705 1549465Sense/Antisense (SA) pairs

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