AutismKB 2.0

Annotation Detail for HLA-E


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Basic Information Top
Gene Symbol:HLA-E ( DKFZp686P19218,EA1.2,EA2.1,HLA-6.2,MHC,QA1 )
Gene Full Name: major histocompatibility complex, class I, E
Band: 6p22.1
Quick LinksEntrez ID:3133; OMIM: 143010; Uniprot ID:HLAE_HUMAN; ENSEMBL ID: ENSG00000204592; HGNC ID: 4962
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
107N-linked (GlcNAc...).
Location(AA) Modifications Resource
107N-linked (GlcNAc...) (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
78Phosphoserine(CK1)HMM predict
107N-linkedHMM predict
144Phosphotyrosine(INSR)HMM predict
168Phosphoserine(IKK)HMM predict
172Phosphoserine(CK2)HMM predict
278Phosphotyrosine(EGFR)HMM predict
292Phosphothreonine(PKC)HMM predict
333Phosphoserine(PKA)HMM predict
341Phosphotyrosine(INSR)HMM predict
341Phosphotyrosine(Jak)HMM predict
353Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005516
  • Location:chr6 30565249-30569063
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 30557898 30558209 311 7196
CTCF CD4SISSRdata 30557898 30558209 311 7196
CTCF G2GSE9613 30556155 30556504 349 8920
CTCF G2GSE9613 30557661 30558319 658 7260
CTCF G2GSE9613 30559451 30559683 232 5683
Fos K562GSE19551 30564861 30565519 658 60
H3K27me3 colorectalcancer 30545418 30546173 755 19454
H3K27me3 colorectalcancer 30556379 30557409 1030 8356
H3ac HepG2E 30565101 30565280 179 59
Nanog hESGSE18292 30559526 30559744 218 5615
Oct1 HelaGSE14283 30565166 30565207 41 63
P300 T0-glioblastomaGSE21026 30564705 30565631 926 82
STAT1 HeLaGSE12783 30563390 30566952 3562 79
Sox2 hESGSE18292 30559512 30559753 241 5617
TAFII hESGSE17917 30564854 30565502 648 72
USF1 HepG2E 30565101 30565352 251 23
USF2 HepG2E 30565101 30565333 232 33
hScc1 BcellGSE12603 30557661 30558319 658 7260
hScc1 BcellGSE12603 30559451 30559683 232 5683
hScc1 CdLSGSE12603 30557661 30558319 658 7260
hScc1 CdLSGSE12603 30559379 30559683 304 5719
hScc1 G2GSE9613 30557731 30558319 588 7225
hScc1 G2GSE9613 30559417 30559683 266 5700
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP k562GSE8489 30584680 30585362 682 15958
Oct1 HelaGSE14283 30574205 30574257 52 5168
Oct1 HelaGSE14283 30585378 30585407 29 16329
hScc1 CdLSGSE12603 30572383 30572757 374 3507
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 30565457 30566328 871 0
ER MCF7E 30567859 30568175 316 0
H3K4me3 colorectalcancer 30566538 30567219 681 0
PHF8 Hs68minusFBSGSE20725 30564774 30566228 1454 0
PHF8 Hs68plusFBSGSE20725 30564942 30566432 1490 0
Pol2 GM12878GSE19551 30564860 30566725 1865 0
PolII HeLaGSE12783 30564692 30567028 2336 0
Rb GrowingGSE19898 30565864 30566059 195 0
hScc1 BcellGSE12603 30565101 30565814 713 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 20841498
hsa-miR-1 hsa-mir-1-1 20 20841498
hsa-miR-10b hsa-mir-10b 2 20841498
hsa-miR-10b* hsa-mir-10b 2 20841498
hsa-miR-124 hsa-mir-124-1 8 21131957
hsa-miR-124 hsa-mir-124-2 8 21131957
hsa-miR-124 hsa-mir-124-3 20 21131957
hsa-miR-148a hsa-mir-148a 7 21068402
hsa-miR-148a* hsa-mir-148a 7 21068402
hsa-miR-148b hsa-mir-148b 12 21068402
hsa-miR-148b* hsa-mir-148b 12 21068402
hsa-miR-152 hsa-mir-152 17 21068402
hsa-miR-181a hsa-mir-181a-2 9 19801983
hsa-miR-181a hsa-mir-181a-1 1 19801983
hsa-miR-208b hsa-mir-208b 14 20447577
hsa-miR-27a hsa-mir-27a 19 21149577
hsa-miR-27a* hsa-mir-27a 19 21149577
hsa-miR-499-3p hsa-mir-499 20 20447577
hsa-miR-499-5p hsa-mir-499 20 20447577
hsa-miR-520b hsa-mir-520b 19 19109132
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