AutismKB 2.0

Annotation Detail for EPHA1


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Basic Information Top
Gene Symbol:EPHA1 ( EPH,EPHT,EPHT1,MGC163163 )
Gene Full Name: EPH receptor A1
Band: 7q34-q35
Quick LinksEntrez ID:2041; OMIM: 179610; Uniprot ID:EPHA1_HUMAN; ENSEMBL ID: ENSG00000146904; HGNC ID: 3385
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
33Phosphothreonine.
34Phosphoserine.
338N-linked (GlcNAc...) (Potential).
414N-linked (GlcNAc...) (Potential).
478N-linked (GlcNAc...) (Potential).
599Phosphotyrosine; by autocatalysis
605Phosphotyrosine; by autocatalysis
780Phosphothreonine.
781Phosphotyrosine; by autocatalysis
906Phosphoserine.
908Phosphoserine.
910Phosphoserine.
919Phosphoserine.
930Phosphotyrosine; by autocatalysis
976PDZ-binding (Potential).
Location(AA) Modifications Resource
33Phosphothreonine.Swiss-Prot 53.0
34Phosphoserine.Swiss-Prot 53.0
338N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
414N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
478N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
599Phosphotyrosine (by autocatalysis)(Potential).Swiss-Prot 53.0
605Phosphotyrosine (by autocatalysis)(Potential).Swiss-Prot 53.0
781Phosphotyrosine (by autocatalysis)(Potential).Swiss-Prot 53.0
781PhosphotyrosinePhospho.ELM 6.0
910Phosphoserine (By similarity).Swiss-Prot 53.0
930Phosphotyrosine (by autocatalysis)(Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
59N-linkedHMM predict
77Phosphothreonine(PKA)HMM predict
108Phosphoserine(IKK)HMM predict
238O-linkedHMM predict
250Phosphoserine(ATM)HMM predict
340Phosphoserine(IKK)HMM predict
340Phosphoserine(PKA)HMM predict
371PhosphoserineHMM predict
400Phosphothreonine(PKC)HMM predict
414N-linkedHMM predict
418N-linkedHMM predict
431Phosphoserine(ATM)HMM predict
439Phosphoserine(PKA)HMM predict
449Phosphoserine(CK1)HMM predict
474Phosphoserine(CDC2)HMM predict
474Phosphoserine(IKK)HMM predict
478N-linkedHMM predict
493Phosphotyrosine(Syk)HMM predict
528Phosphoserine(CDC2)HMM predict
536Phosphoserine(CDC2)HMM predict
540O-linkedHMM predict
541MethylarginineHMM predict
605Phosphotyrosine(INSR)HMM predict
605Phosphotyrosine(Syk)HMM predict
642Phosphothreonine(PKA)HMM predict
657Phosphothreonine(PKC)HMM predict
693Phosphothreonine(PKC)HMM predict
745Phosphotyrosine(INSR)HMM predict
827Phosphotyrosine(INSR)HMM predict
827Phosphotyrosine(Syk)HMM predict
901Phosphothreonine(PKC)HMM predict
908Phosphoserine(ATM)HMM predict
910Phosphoserine(ATM)HMM predict
959ThreonineHMM predict
971IsoleucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005232
  • Location:chr7 142798327-142816106
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 142816130 142816371 241 144
CTCF CD4SISSRdata 142816130 142816371 241 144
CTCF G2GSE9613 142816535 142816775 240 549
CTCF G2GSE9613 142823844 142824356 512 7994
CTCF G2GSE9613 142829281 142829595 314 13332
Oct4 hESGSE21916 142817620 142818263 643 1835
Rb GrowingGSE19898 142827665 142827808 143 11630
TFAP2C MCF7GSE21234 142816450 142816926 476 582
hScc1 CdLSGSE12603 142823732 142824163 431 7841
hScc1 G2GSE9613 142823732 142824321 589 7920
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 142798882 142799204 322 0
CTCF G2GSE9613 142803612 142804089 477 0
CTCF G2GSE9613 142805632 142806049 417 0
CTCF G2GSE9613 142806933 142807286 353 0
CTCF G2GSE9613 142808407 142808559 152 0
CTCF G2GSE9613 142815605 142816211 606 0
RARA MCF7GSE15244 142800360 142801487 1127 0
Rb QuiescentGSE19898 142812443 142812640 197 0
TFAP2C MCF7GSE21234 142800493 142801183 690 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-124 hsa-mir-124-1 8 20308325
hsa-miR-124 hsa-mir-124-2 8 20308325
hsa-miR-124 hsa-mir-124-3 20 20308325
No data
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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