AutismKB 2.0

Annotation Detail for EPB42


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EPB42 ( MGC116735,MGC116737,PA,SPH5 )
Gene Full Name: erythrocyte membrane protein band 4.2
Band: 15q15.2
Quick LinksEntrez ID:2038; OMIM: 177070; Uniprot ID:EPB42_HUMAN; ENSEMBL ID: ENSG00000166947; HGNC ID: 3381
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
248Phosphoserine; by PKA (Probable).
Location(AA) Modifications Resource
2N-myristoyl glycine.Swiss-Prot 53.0
247Phosphoserine (PKA
248Phosphoserine (by PKA) (Probable).Swiss-Prot 53.0
Location(AA) Modification Resource
73N-linkedHMM predict
101Phosphoserine(IKK)HMM predict
107O-linkedHMM predict
108O-linkedHMM predict
197Phosphoserine(CAMK2)HMM predict
248Phosphoserine(PKA)HMM predict
291O-linkedHMM predict
308Phosphotyrosine(Syk)HMM predict
379Phosphothreonine(MAPK)HMM predict
390N-linkedHMM predict
473Phosphoserine(MAPK)HMM predict
499N-linkedHMM predict
607Phosphoserine(IKK)HMM predict
613Phosphoserine(IKK)HMM predict
636Phosphoserine(PKB)HMM predict
675N-linkedHMM predict
678N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000119
  • Location:chr15 41276719-41300772
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 41304922 41305301 379 4339
CTCF CD4SISSRdata 41304922 41305301 379 4339
CTCF JurkatGSE12889 41305019 41305242 223 4358
CTCF G2GSE9613 41305094 41305280 186 4415
Sox2 hESGSE18292 41305048 41305265 217 4384
hScc1 BcellGSE12603 41304670 41305280 610 4203
hScc1 CdLSGSE12603 41304774 41305280 506 4255
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 41283441 41284229 788 0
CTCF G2GSE9613 41288465 41288951 486 0
CTCF G2GSE9613 41294404 41294677 273 0
Gata2 K562GSE18868 41299865 41301151 1286 0
Oct1 HelaGSE14283 41295555 41295597 42 0
P300 T30-glioblastomaGSE21026 41298256 41299554 1298 0
TFAP2C MCF7GSE21234 41298884 41299228 344 0
hScc1 BcellGSE12603 41283602 41284229 627 0
p63 keratinocytesGSE17611 41298235 41299217 982 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved