AutismKB 2.0

Annotation Detail for EPHA7


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Basic Information Top
Gene Symbol:EPHA7 ( EHK3,HEK11 )
Gene Full Name: EPH receptor A7
Band: 6q16.1
Quick LinksEntrez ID:2045; OMIM: 602190; Uniprot ID:EPHA7_HUMAN; ENSEMBL ID: ENSG00000135333; HGNC ID: 3390
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
343N-linked (GlcNAc...) (Potential).
410N-linked (GlcNAc...) (Potential).
608Phosphotyrosine; by autocatalysis
614Phosphotyrosine; by autocatalysis
791Phosphotyrosine; by autocatalysis
940Phosphotyrosine; by autocatalysis
998PDZ-binding (Potential).
Location(AA) Modifications Resource
343N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
410N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
608Phosphotyrosine (by autocatalysis)(Potential).Swiss-Prot 53.0
614Phosphotyrosine (by autocatalysis)(Potential).Swiss-Prot 53.0
791Phosphotyrosine (by autocatalysis)(Potential).Swiss-Prot 53.0
940Phosphotyrosine (by autocatalysis)(Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
50Phosphoserine(CDC2)HMM predict
64N-linkedHMM predict
66Phosphothreonine(CDC2)HMM predict
111Phosphoserine(CK1)HMM predict
111Phosphoserine(IKK)HMM predict
128SulfotyrosineHMM predict
143Phosphotyrosine(INSR)HMM predict
317Phosphotyrosine(Syk)HMM predict
321PhosphoserineHMM predict
329O-linkedHMM predict
333Phosphoserine(IKK)HMM predict
343N-linkedHMM predict
352Phosphoserine(IKK)HMM predict
388Phosphotyrosine(INSR)HMM predict
399Phosphotyrosine(Syk)HMM predict
410N-linkedHMM predict
427Phosphoserine(ATM)HMM predict
435Phosphoserine(PKG)HMM predict
444Phosphoserine(ATM)HMM predict
481Phosphotyrosine(Syk)HMM predict
490Phosphotyrosine(SRC)HMM predict
491Phosphoserine(IKK)HMM predict
498Phosphothreonine(PKA)HMM predict
525N-linkedHMM predict
585Phosphotyrosine(Jak)HMM predict
608Phosphotyrosine(INSR)HMM predict
614Phosphotyrosine(SRC)HMM predict
614Phosphotyrosine(INSR)HMM predict
614PhosphotyrosineHMM predict
614Phosphotyrosine(Syk)HMM predict
702Phosphothreonine(PKC)HMM predict
814Phosphothreonine(PKA)HMM predict
815Phosphoserine(PKA)HMM predict
837Phosphotyrosine(Syk)HMM predict
902Phosphothreonine(CDK)HMM predict
912Phosphoserine(MAPK)HMM predict
943N-linkedHMM predict
959Phosphothreonine(PKC)HMM predict
965Phosphoserine(CK1)HMM predict
981IsoleucineHMM predict
983Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004440
  • Location:chr6 94007861-94185992
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 94190061 94190640 579 4358
TAFII hESGSE17917 94185842 94186677 835 267
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 93994303 93994333 30 13544
Oct1 HelaGSE14283 93994304 93994333 29 13543
TFAP2C MCF7GSE21234 94002254 94002529 275 5470
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 94183178 94183646 468 0
CTCF G2GSE9613 94184860 94185616 756 0
ER Fulvestrant-MCF7GSE14664 94080409 94080451 42 0
ER Fulvestrant-MCF7GSE14664 94169521 94169560 39 0
H3K27me3 colorectalcancer 94183793 94186850 3057 0
Oct1 H2O2-HelaGSE14283 94080411 94080451 40 0
Oct1 H2O2-HelaGSE14283 94091358 94091386 28 0
Oct1 HelaGSE14283 94078262 94078320 58 0
Oct1 HelaGSE14283 94080412 94080454 42 0
Oct1 HelaGSE14283 94083402 94083431 29 0
RING1B hESGSE13084 94141796 94142304 508 0
hScc1 BcellGSE12603 94183142 94183793 651 0
hScc1 BcellGSE12603 94184894 94185326 432 0
hScc1 G2GSE9613 94184917 94185519 602 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