AutismKB 2.0

Annotation Detail for IL4R


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Basic Information Top
Gene Symbol:IL4R ( CD124,IL4RA )
Gene Full Name: interleukin 4 receptor
Band: 16p12.1
Quick LinksEntrez ID:3566; OMIM: 147781; Uniprot ID:IL4RA_HUMAN; ENSEMBL ID: ENSG00000077238; HGNC ID: 6015
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
53N-linked (GlcNAc...) (Potential).
98N-linked (GlcNAc...) (Potential).
128N-linked (GlcNAc...) (Potential).
134N-linked (GlcNAc...) (Potential).
176N-linked (GlcNAc...) (Potential).
209N-linked (GlcNAc...) (Potential).
216WSXWS motif.
270Box 1 motif.
497Phosphotyrosine.
575Phosphotyrosine (Probable).
603Phosphotyrosine (Probable).
631Phosphotyrosine (Probable).
716ITIM motif.
Location(AA) Modifications Resource
53N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
98N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
128N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
134N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
176N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
209N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
497Phosphotyrosine.Swiss-Prot 53.0
497PhosphotyrosinePhospho.ELM 6.0
575PhosphotyrosinePhospho.ELM 6.0
575Phosphotyrosine (Probable).Swiss-Prot 53.0
603Phosphotyrosine (Probable).Swiss-Prot 53.0
603PhosphotyrosinePhospho.ELM 6.0
631Phosphotyrosine (Probable).Swiss-Prot 53.0
631PhosphotyrosinePhospho.ELM 6.0
713PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
36Phosphoserine(PKA)HMM predict
38Phosphotyrosine(INSR)HMM predict
40Phosphoserine(INSR)HMM predict
95Phosphoserine(CK2)HMM predict
98N-linkedHMM predict
128N-linkedHMM predict
134N-linkedHMM predict
176N-linkedHMM predict
179Phosphotyrosine(Syk)HMM predict
209N-linkedHMM predict
212C-linkedHMM predict
215C-linkedHMM predict
248S-palmitoylHMM predict
251S-palmitoylHMM predict
383Phosphoserine(IKK)HMM predict
387Phosphoserine(CDC2)HMM predict
390Phosphoserine(CK2)HMM predict
436O-linkedHMM predict
438O-linkedHMM predict
470O-linkedHMM predict
470Phosphoserine(ATM)HMM predict
474O-linkedHMM predict
474Phosphoserine(CDC2)HMM predict
474Phosphoserine(CDK)HMM predict
474Phosphoserine(IKK)HMM predict
474PhosphoserineHMM predict
476O-linkedHMM predict
481N-linkedHMM predict
497PhosphotyrosineHMM predict
497Phosphotyrosine(EGFR)HMM predict
505Phosphoserine(ATM)HMM predict
507Phosphoserine(IKK)HMM predict
537O-linkedHMM predict
540O-linkedHMM predict
569O-linkedHMM predict
569Phosphoserine(IKK)HMM predict
569O-linkedHMM predict
569O-linkedHMM predict
603Phosphotyrosine(EGFR)HMM predict
603Phosphotyrosine(Syk)HMM predict
608O-linkedHMM predict
631Phosphotyrosine(EGFR)HMM predict
631Phosphotyrosine(Syk)HMM predict
631PhosphotyrosineHMM predict
664Phosphoserine(ATM)HMM predict
664Phosphoserine(CDC2)HMM predict
668O-linkedHMM predict
673Phosphoserine(CK2)HMM predict
674Phosphoserine(ATM)HMM predict
674Phosphoserine(CDK)HMM predict
736Phosphothreonine(MAPK)HMM predict
743S-palmitoylHMM predict
744S-palmitoylHMM predict
748S-palmitoylHMM predict
752O-linkedHMM predict
753Phosphoserine(IKK)HMM predict
753O-linkedHMM predict
757Phosphothreonine(CDC2)HMM predict
757Phosphothreonine(CDK)HMM predict
757Phosphothreonine(MAPK)HMM predict
779Phosphoserine(MAPK)HMM predict
789Phosphoserine(IKK)HMM predict
792O-linkedHMM predict
805O-linkedHMM predict
806Phosphoserine(ATM)HMM predict
808Phosphothreonine(MAPK)HMM predict
815ValineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000418
  • Location:chr16 27232751-27283598
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 27286883 27287236 353 3461
CTCF CD4GSE12889 27293889 27294016 127 10354
CTCF CD4SISSRdata 27286883 27287236 353 3461
CTCF CD4SISSRdata 27293889 27294016 127 10354
CTCF HelaGSE12889 27293850 27294003 153 10328
CTCF JurkatGSE12889 27293840 27294005 165 10324
CTCF G2GSE9613 27286959 27287276 317 3519
CTCF G2GSE9613 27293672 27293866 194 10171
Fos K562GSE19551 27293735 27294411 676 10475
NFkBII GM12878GSE19485 27285669 27287581 1912 3027
USF1 HepG2E 27293672 27293866 194 10171
USF2 HepG2E 27293672 27293866 194 10171
hScc1 BcellGSE12603 27286959 27287276 317 3519
hScc1 BcellGSE12603 27291333 27291743 410 7940
hScc1 BcellGSE12603 27293672 27293866 194 10171
hScc1 CdLSGSE12603 27286959 27287276 317 3519
hScc1 CdLSGSE12603 27291333 27291743 410 7940
hScc1 CdLSGSE12603 27293672 27293866 194 10171
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 27274573 27274748 175 0
CTCF CD4SISSRdata 27274573 27274748 175 0
CTCF G2GSE9613 27281575 27282298 723 0
FOXA1 MCF7GSE15244 27282411 27283679 1268 0
FoxA1 MCF7MACSdata 27283227 27283594 367 0
hScc1 BcellGSE12603 27281500 27281921 421 0
Validated miRNA targets Top
Cis-Nats regulation Top

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


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