AutismKB 2.0

Annotation Detail for HEY1


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Basic Information Top
Gene Symbol:HEY1 ( BHLHb31,CHF2,HERP2,HESR1,HRT-1,MGC1274,OAF1 )
Gene Full Name: hairy/enhancer-of-split related with YRPW motif 1
Band: 8q21.13
Quick LinksEntrez ID:23462; OMIM: 602953; Uniprot ID:HEY1_HUMAN; ENSEMBL ID: ENSG00000164683; HGNC ID: 4880
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
25Phosphoserine.
45Phosphoserine.
297YRPW motif.
Location(AA) Modifications Resource
Location(AA) Modification Resource
8SulfotyrosineHMM predict
9Phosphoserine(CK1)HMM predict
11Phosphoserine(ATM)HMM predict
11Phosphoserine(CK2)HMM predict
13Phosphoserine(CK2)HMM predict
38Phosphoserine(IKK)HMM predict
40O-linkedHMM predict
40Phosphoserine(IKK)HMM predict
66N-linkedHMM predict
67N-linkedHMM predict
209Phosphoserine(IKK)HMM predict
209Phosphoserine(CDC2)HMM predict
209O-linkedHMM predict
234O-linkedHMM predict
236O-linkedHMM predict
248O-linkedHMM predict
256O-linkedHMM predict
275Phosphoserine(MAPK)HMM predict
280Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012258
  • Location:chr8 80838800-80842652
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 80842982 80843645 663 661
CTCF G2GSE9613 80858324 80858997 673 16008
KLF4 hESGSE17917 80843491 80843957 466 1072
NFkBII GM12892GSE19485 80842273 80844343 2070 656
Oct4 hESGSE17917 80858754 80859119 365 16284
PolII HeLaGSE12783 80858067 80859758 1691 16260
TAF HelaGSE8489 80860107 80860966 859 17884
hScc1 BcellGSE12603 80841953 80843768 1815 208
hScc1 BcellGSE12603 80858324 80858962 638 15991
hScc1 CdLSGSE12603 80841990 80843816 1826 251
hScc1 CdLSGSE12603 80858324 80859204 880 16112
hScc1 G2GSE9613 80842762 80843525 763 491
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 80825827 80826050 223 12862
Myc K562GSE19551 80835682 80835981 299 2969
Oct1 HelaGSE14283 80830763 80830789 26 8025
RARA MCF7GSE15244 80825827 80826050 223 12862
STAT1 HeLaGSE12783 80830408 80831567 1159 7813
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 80839930 80840389 459 0
CTCF CD4SISSRdata 80839930 80840389 459 0
CTCF JurkatGSE12889 80840042 80840417 375 0
CTCF G2GSE9613 80839956 80840721 765 0
FOXA1 MCF7GSE15244 80840106 80840650 544 0
H3K4me2 HCT116GSE10453 80840465 80841045 580 0
H3K4me3 colorectalcancer 80840465 80842112 1647 0
hScc1 BcellGSE12603 80840000 80840721 721 0
hScc1 CdLSGSE12603 80839787 80840683 896 0
hScc1 G2GSE9613 80840000 80840509 509 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-181b hsa-mir-181b-1 1 20868653
hsa-miR-181b hsa-mir-181b-2 9 20868653
hsa-miR-486-3p hsa-mir-486 8 20868653
hsa-miR-486-5p hsa-mir-486 8 20868653
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


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