AutismKB 2.0

Annotation Detail for EHMT1


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Basic Information Top
Gene Symbol:EHMT1 ( DEL9q34,DKFZp667M072,EUHMTASE1,Eu-HMTase1,FLJ12879,FP13812,GLP,KIAA1876,KMT1D,bA188C12.1 )
Gene Full Name: euchromatic histone-lysine N-methyltransferase 1
Band: 9q34.3
Quick LinksEntrez ID:79813; OMIM: 607001; Uniprot ID:EHMT1_HUMAN; ENSEMBL ID: ENSG00000181090; HGNC ID: 24650
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
497Phosphoserine.
Location(AA) Modifications Resource
304PhosphoserinePhospho.ELM 6.0
305PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
24N-linkedHMM predict
29N-linkedHMM predict
33Phosphoserine(CK2)HMM predict
94Phosphotyrosine(INSR)HMM predict
110Phosphoserine(IKK)HMM predict
111O-linkedHMM predict
114O-linkedHMM predict
115O-linkedHMM predict
133Phosphothreonine(MAPK)HMM predict
135PhosphoserineHMM predict
135O-linkedHMM predict
140O-linkedHMM predict
155Phosphothreonine(CK2)HMM predict
155Phosphothreonine(PKC)HMM predict
175Phosphothreonine(PKC)HMM predict
209N-linkedHMM predict
241Phosphoserine(IKK)HMM predict
273Phosphothreonine(PKA)HMM predict
317Phosphoserine(CK2)HMM predict
317Phosphoserine(ATM)HMM predict
322Phosphoserine(CK2)HMM predict
322Phosphoserine(CK1)HMM predict
346Phosphothreonine(PKC)HMM predict
347Phosphoserine(CK1)HMM predict
350Phosphoserine(PKG)HMM predict
364Phosphoserine(CK2)HMM predict
373Phosphothreonine(CK2)HMM predict
386Phosphoserine(CK1)HMM predict
386Phosphoserine(CK2)HMM predict
387Phosphoserine(CK1)HMM predict
417Phosphoserine(PKG)HMM predict
436Phosphoserine(IKK)HMM predict
436O-linkedHMM predict
448Phosphotyrosine(Syk)HMM predict
448Phosphotyrosine(INSR)HMM predict
465Phosphoserine(CK2)HMM predict
466Phosphoserine(ATM)HMM predict
495Phosphothreonine(CDK)HMM predict
577Phosphoserine(CK1)HMM predict
592N-linkedHMM predict
617O-linkedHMM predict
618O-linkedHMM predict
618O-linkedHMM predict
618O-linkedHMM predict
618Phosphoserine(IKK)HMM predict
619O-linkedHMM predict
619O-linkedHMM predict
621Phosphothreonine(CDC2)HMM predict
621O-linkedHMM predict
681Phosphoserine(ATM)HMM predict
744Phosphoserine(CDC2)HMM predict
921Phosphotyrosine(EGFR)HMM predict
921Phosphotyrosine(SRC)HMM predict
949Phosphoserine(IKK)HMM predict
973Phosphoserine(CDK)HMM predict
973Phosphoserine(CDC2)HMM predict
1024N-linkedHMM predict
1163N-linkedHMM predict
1169N-linkedHMM predict
1225S-palmitoylHMM predict
1227S-palmitoylHMM predict
1235Phosphoserine(PKA)HMM predict
1245Phosphoserine(PKB)HMM predict
1245Phosphoserine(CAMK2)HMM predict
1260O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024757
  • Location:chr9 139725237-139850396
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 139709585 139709760 175 15565
CTCF CD4SISSRdata 139709585 139709760 175 15565
CTCF HelaGSE12889 139709479 139709748 269 15624
ER MCF7GSE19013 139708841 139709502 661 16066
FOXA1 MCF7GSE15244 139707822 139708760 938 16947
FOXA1 MCF7GSE15244 139712280 139712778 498 12709
HIF1 HypoHepG2 139707822 139708566 744 17044
hScc1 BcellGSE12603 139707822 139708612 790 17021
hScc1 BcellGSE12603 139709048 139709704 656 15862
p63 keratinocytesGSE17611 139722567 139723562 995 2173
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
HIF1 HypoHepG2 139859388 139860674 1286 9635
hScc1 BcellGSE12603 139855345 139856340 995 5446
hScc1 BcellGSE12603 139856783 139856990 207 6490
hScc1 BcellGSE12603 139859388 139860674 1286 9635
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF JurkatGSE12889 139828271 139828506 235 0
ETS1 JurkatGSE17954 139822020 139822792 772 0
FOXA1 MCF7GSE15244 139794925 139795772 847 0
FOXA1 MCF7GSE15244 139832601 139833936 1335 0
FoxA1 MCF7MACSdata 139790444 139790595 151 0
GABP GMOGSE8489 139737028 139737924 896 0
HIF1 HypoHepG2 139794925 139795545 620 0
HIF1 HypoHepG2 139832642 139833900 1258 0
NFkBII GM12878GSE19485 139773069 139777599 4530 0
NFkBII GM12892GSE19485 139772981 139777547 4566 0
NFkBII GM18526GSE19485 139773027 139777560 4533 0
NRSF JurkatGSE13047 139842225 139843520 1295 0
NRSF mAbJurkat 139839698 139841986 2288 0
NRSF mAbJurkat 139842864 139844214 1350 0
NRSF mAbJurkat 139844826 139845128 302 0
NRSF-mono JurkatQuESTdata 139842099 139843513 1414 0
NRSF-poly JurkatQuESTdata 139842204 139843485 1281 0
Nanog ESGSE20650 139730311 139730517 206 0
Oct4 ESGSE20650 139730250 139730506 256 0
Oct4 hESGSE17917 139828318 139828469 151 0
Rb shRbSenescenceGSE19898 139730553 139730714 161 0
SRF GMOGSE8489 139736777 139737991 1214 0
SRF HepG2GSE8489 139736777 139737991 1214 0
Sox2 hESGSE18292 139736113 139736474 361 0
TAF k562GSE8489 139794925 139795772 847 0
USF1 HepG2E 139819228 139819513 285 0
hScc1 BcellGSE12603 139737307 139737791 484 0
hScc1 BcellGSE12603 139739969 139740335 366 0
hScc1 BcellGSE12603 139779874 139780057 183 0
hScc1 BcellGSE12603 139788336 139788783 447 0
hScc1 BcellGSE12603 139792712 139792986 274 0
hScc1 BcellGSE12603 139794925 139795545 620 0
hScc1 BcellGSE12603 139807172 139807330 158 0
hScc1 BcellGSE12603 139813885 139814165 280 0
hScc1 BcellGSE12603 139828214 139828440 226 0
hScc1 BcellGSE12603 139832642 139833098 456 0
hScc1 BcellGSE12603 139841524 139842010 486 0
hScc1 BcellGSE12603 139846102 139846781 679 0
hScc1 BcellGSE12603 139847583 139847952 369 0
hScc1 BcellGSE12603 139848302 139848687 385 0
hScc1 BcellGSE12603 139849052 139849582 530 0
p130 QuiescentGSE19898 139730567 139730704 137 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
1154 Unknown pSILAC miR-1 EHMT1 down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000181090 n_a n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, non-Hodgkin's, sarcoma"
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
27282 mRNA EHMT1 chr9 137881253 138006413 227 mRNA chr9 137946827 137959524Sense/Antisense (SA) pairs

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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