AutismKB 2.0

Annotation Detail for EPHA6


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Basic Information Top
Gene Symbol:EPHA6 ( DKFZp434C1418,EPA6,FLJ35246,PRO57066 )
Gene Full Name: EPH receptor A6
Band: 3q11.2
Quick LinksEntrez ID:285220; OMIM: 600066; Uniprot ID:EPHA6_HUMAN; ENSEMBL ID: ENSG00000080224; HGNC ID: 19296
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
342N-linked (GlcNAc...) (Potential).
396N-linked (GlcNAc...) (Potential).
409N-linked (GlcNAc...) (Potential).
605Phosphotyrosine; by autocatalysis
611Phosphotyrosine; by autocatalysis
830Phosphotyrosine; by autocatalysis
977Phosphotyrosine; by autocatalysis
1035PDZ-binding (Potential).
Location(AA) Modifications Resource
342N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
396N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
409N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
605Phosphotyrosine (by autocatalysis)(Potential).Swiss-Prot 53.0
611Phosphotyrosine (by autocatalysis)(Potential).Swiss-Prot 53.0
830Phosphotyrosine (by autocatalysis)(Potential).Swiss-Prot 53.0
977Phosphotyrosine (by autocatalysis)(Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
131Phosphoserine(ATM)HMM predict
144Phosphotyrosine(INSR)HMM predict
155Phosphoserine(IKK)HMM predict
227Phosphoserine(CK1)HMM predict
268Phosphotyrosine(INSR)HMM predict
268Phosphotyrosine(Syk)HMM predict
307Phosphoserine(IKK)HMM predict
342N-linkedHMM predict
376Phosphoserine(ATM)HMM predict
376Phosphoserine(IKK)HMM predict
409N-linkedHMM predict
426Phosphoserine(ATM)HMM predict
457Phosphoserine(IKK)HMM predict
475SulfotyrosineHMM predict
490Phosphoserine(CK1)HMM predict
492O-linkedHMM predict
494Phosphoserine(IKK)HMM predict
510Phosphotyrosine(Jak)HMM predict
574S-palmitoylHMM predict
605Phosphotyrosine(INSR)HMM predict
611Phosphotyrosine(INSR)HMM predict
611PhosphotyrosineHMM predict
611Phosphotyrosine(Syk)HMM predict
651Phosphothreonine(MAPK)HMM predict
651Phosphothreonine(CDK)HMM predict
755N-linkedHMM predict
793Phosphotyrosine(Jak)HMM predict
935N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
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