AutismKB 2.0

Annotation Detail for HES1


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Basic Information Top
Gene Symbol:HES1 ( FLJ20408,HES-1,HHL,HRY,bHLHb39 )
Gene Full Name: hairy and enhancer of split 1, (Drosophila)
Band: 3q29
Quick LinksEntrez ID:3280; OMIM: 139605; Uniprot ID:HES1_HUMAN; ENSEMBL ID: ENSG00000114315; HGNC ID: 5192
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
10Phosphoserine.
24Phosphothreonine.
278WRPW motif.
Location(AA) Modifications Resource
37Phosphoserine (PKC
38Phosphoserine (PKC
Location(AA) Modification Resource
9N-linkedHMM predict
11Phosphoserine(CK1)HMM predict
12Phosphoserine(CDC2)HMM predict
17Phosphothreonine(MAPK)HMM predict
17O-linkedHMM predict
20Phosphoserine(IKK)HMM predict
22N-linkedHMM predict
23O-linkedHMM predict
24Phosphothreonine(CDC2)HMM predict
38Phosphoserine(PKA)HMM predict
51N-linkedHMM predict
55Phosphoserine(ATM)HMM predict
73Phosphoserine(CK1)HMM predict
252O-linkedHMM predict
254O-linkedHMM predict
255O-linkedHMM predict
262Phosphoserine(CDC2)HMM predict
264O-linkedHMM predict
265O-linkedHMM predict
265O-linkedHMM predict
265O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005524
  • Location:chr3 195336627-195339091
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 195324524 195324959 435 11886
CTCF G2GSE9613 195334187 195334528 341 2270
FOXA1 MCF7GSE15244 195322112 195322728 616 14208
FOXA1 MCF7GSE15244 195324050 195324639 589 12283
FOXA1 MCF7GSE15244 195331339 195332295 956 4811
Fos K562GSE19551 195336072 195336924 852 130
FoxA1 MCF7MACSdata 195331733 195332070 337 4726
H3ac HepG2E 195331531 195332048 517 4838
H3ac HepG2E 195333671 195334386 715 2599
NFkBII GM12878GSE19485 195331193 195332539 1346 4762
NRSF-mono JurkatQuESTdata 195336252 195336872 620 66
PolII HeLaGSE12783 195333888 195339276 5388 46
RARA MCF7GSE15244 195322329 195323037 708 13945
RARA MCF7GSE15244 195331383 195332183 800 4845
RARG MCF7GSE15244 195322221 195322587 366 14224
RARG MCF7GSE15244 195331455 195332259 804 4771
TFAP2C MCF7GSE21234 195331421 195332170 749 4832
TFAP2C MCF7GSE21234 195334897 195335998 1101 1180
TFAP2C MCF7GSE21234 195336045 195336948 903 131
hScc1 BcellGSE12603 195320300 195320427 127 16264
hScc1 BcellGSE12603 195331531 195331909 378 4908
hScc1 CdLSGSE12603 195331558 195332295 737 4701
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 195339777 195340164 387 879
CTCF G2GSE9613 195341728 195342627 899 3086
CTCF G2GSE9613 195349165 195349339 174 10161
CTCF G2GSE9613 195356572 195356918 346 17654
FOXA1 MCF7GSE15244 195342418 195343168 750 3702
FOXA1 MCF7GSE15244 195348570 195349077 507 9732
FOXA1 MCF7GSE15244 195350795 195351159 364 11886
Gata1 K562GSE18868 195341004 195341586 582 2204
Gata2 K562GSE18868 195340893 195341810 917 2260
H3ac HepG2E 195339266 195340112 846 598
RARA MCF7GSE15244 195339229 195340074 845 560
RARA MCF7GSE15244 195342418 195343353 935 3794
RARA MCF7GSE15244 195350663 195351084 421 11782
RARG MCF7GSE15244 195342418 195343353 935 3794
RARG MCF7GSE15244 195347779 195348968 1189 9282
RARG MCF7GSE15244 195350663 195351159 496 11820
RARG MCF7GSE15244 195351875 195352038 163 12865
TFAP2C MCF7GSE21234 195341554 195342135 581 2753
TFAP2C MCF7GSE21234 195342165 195343263 1098 3623
TFAP2C MCF7GSE21234 195350755 195351371 616 11972
hScc1 BcellGSE12603 195341270 195342627 1357 2857
hScc1 BcellGSE12603 195347486 195347918 432 8611
hScc1 BcellGSE12603 195348968 195349339 371 10062
hScc1 G2GSE9613 195341617 195342764 1147 3099
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 195338398 195338553 155 0
CTCF CD4SISSRdata 195338398 195338553 155 0
CTCF G2GSE9613 195338048 195338760 712 0
H3K4me3 colorectalcancer 195336928 195337609 681 0
NRSF JurkatGSE13047 195336247 195337228 981 0
NRSF mAbJurkat 195336139 195337571 1432 0
NRSF-poly JurkatQuESTdata 195336309 195337110 801 0
Pol2 GM12878GSE19551 195336423 195336900 477 0
RARA MCF7GSE15244 195336083 195338048 1965 0
RARG MCF7GSE15244 195336083 195338048 1965 0
TAF k562GSE8489 195336530 195337571 1041 0
TFAP2C MCF7GSE21234 195337555 195338370 815 0
hScc1 BcellGSE12603 195338010 195338760 750 0
hScc1 CdLSGSE12603 195336400 195338794 2394 0
hScc1 G2GSE9613 195337201 195338884 1683 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-124 hsa-mir-124-1 8 20036862
hsa-miR-124 hsa-mir-124-2 8 20036862
hsa-miR-124 hsa-mir-124-3 20 20036862
hsa-miR-199b-3p hsa-mir-199b 9 19308264
hsa-miR-199b-5p hsa-mir-199b 9 19308264
hsa-miR-23a hsa-mir-23a 19 12808467
hsa-miR-23a* hsa-mir-23a 19 12808467
hsa-miR-23b hsa-mir-23b 9 17150554
hsa-miR-23b hsa-mir-23b 9 12808467
hsa-miR-23b* hsa-mir-23b 9 17150554
hsa-miR-23b* hsa-mir-23b 9 12808467
hsa-miR-34a hsa-mir-34a 1 20213410
hsa-miR-34a* hsa-mir-34a 1 20213410
hsa-miR-34b hsa-mir-34b 11 20213410
hsa-miR-34b* hsa-mir-34b 11 20213410
hsa-miR-34c-3p hsa-mir-34c 11 20213410
hsa-miR-34c-5p hsa-mir-34c 11 20213410
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
558 mRNA repression TRUE miR-23 HES1 in vitro reporter gene assay (Luciferase) 15066185
559 mRNA repression TRUE miR-23 HES1 in vitro reporter gene assay (Luciferase) 15066185
560 mRNA repression TRUE miR-23 HES1 in vitro reporter gene assay (Luciferase) 15066185
561 mRNA repression TRUE miR-23 HES1 in vitro reporter gene assay (Luciferase) 15066185
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000114315 n_a n_a n_a "epithelium, squamous cell, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma"
ENSG00000114315 n_a n_a n_a "epithelium, squamous cell, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma"
ENSG00000114315 n_a n_a n_a "epithelium, squamous cell, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma"
ENSG00000114315 n_a n_a n_a "epithelium, squamous cell, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma"
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


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