AutismKB 2.0

Annotation Detail for HACE1


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Basic Information Top
Gene Symbol:HACE1 ( - )
Gene Full Name: HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1
Band: 6q16.3
Quick LinksEntrez ID:57531; OMIM: 610876; Uniprot ID:HACE1_HUMAN; ENSEMBL ID: ENSG00000085382; HGNC ID: 21033
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
27N-linkedHMM predict
32Phosphotyrosine(SRC)HMM predict
194N-linkedHMM predict
199Phosphothreonine(MAPK)HMM predict
202Phosphotyrosine(Jak)HMM predict
231Phosphothreonine(MAPK)HMM predict
281Phosphoserine(ATM)HMM predict
286Phosphoserine(ATM)HMM predict
288Phosphotyrosine(Syk)HMM predict
308Phosphoserine(CK1)HMM predict
313Phosphotyrosine(Syk)HMM predict
349N-linkedHMM predict
351Phosphothreonine(CDC2)HMM predict
351Phosphothreonine(MAPK)HMM predict
416Phosphotyrosine(INSR)HMM predict
473Phosphoserine(CDC2)HMM predict
632Phosphotyrosine(INSR)HMM predict
709Phosphoserine(ATM)HMM predict
740Phosphotyrosine(EGFR)HMM predict
802Phosphotyrosine(INSR)HMM predict
806Phosphotyrosine(Syk)HMM predict
806Phosphotyrosine(INSR)HMM predict
857N-linkedHMM predict
866Phosphothreonine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020771
  • Location:chr6 105282660-105414486
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc hESGSE17917 105414448 105414703 255 89
Oct4 hESGSE17917 105414363 105414618 255 4
P300 T0-glioblastomaGSE21026 105416521 105417675 1154 2612
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 105272744 105272771 27 9903
Oct4 hESGSE17917 105275059 105275333 274 7465
RARA MCF7GSE15244 105265010 105266324 1314 16994
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 105344307 105344961 654 0
CTCF CD4GSE12889 105325880 105326235 355 0
CTCF CD4SISSRdata 105325880 105326235 355 0
CTCF G2GSE9613 105325630 105326011 381 0
CTCF G2GSE9613 105344436 105344568 132 0
CTCF G2GSE9613 105414021 105414624 603 0
ETS1 JurkatGSE17954 105413210 105414970 1760 0
H3K4me3 colorectalcancer 105413229 105414050 821 0
H3ac HepG2E 105413132 105414050 918 0
Nanog hESGSE18292 105366055 105366612 557 0
Oct1 H2O2-HelaGSE14283 105299502 105299580 78 0
Oct1 HelaGSE14283 105362721 105362751 30 0
P300 T30-glioblastomaGSE21026 105344309 105344901 592 0
PHF8 HeLaGSE20725 105413916 105414676 760 0
hScc1 BcellGSE12603 105325797 105326011 214 0
hScc1 BcellGSE12603 105413887 105414624 737 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-15a hsa-mir-15a 13 18362358
hsa-miR-15a* hsa-mir-15a 13 18362358
hsa-miR-16 hsa-mir-16-1 13 18362358
hsa-miR-16 hsa-mir-16-2 3 18362358
hsa-miR-16-1* hsa-mir-16-1 13 18362358
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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