AutismKB 2.0

Annotation Detail for HSD17B12


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Basic Information Top
Gene Symbol:HSD17B12 ( KAR,SDR12C1 )
Gene Full Name: hydroxysteroid (17-beta) dehydrogenase 12
Band: 11p11.2
Quick LinksEntrez ID:51144; OMIM: 609574; Uniprot ID:DHB12_HUMAN; ENSEMBL ID: ENSG00000149084; HGNC ID: 18646
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
312Di-lysine motif.
Location(AA) Modifications Resource
Location(AA) Modification Resource
115Phosphotyrosine(INSR)HMM predict
115Phosphotyrosine(SRC)HMM predict
115Phosphotyrosine(Syk)HMM predict
143SulfotyrosineHMM predict
246Phosphothreonine(PKA)HMM predict
246Phosphothreonine(PKC)HMM predict
254PhosphothreonineHMM predict
298N-linkedHMM predict
312AsparagineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016142
  • Location:chr11 43658880-43834735
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 DLD1GSE12801 43652733 43653247 514 5891
FOXA1 MCF7GSE15244 43658513 43659011 498 119
Oct1 HelaGSE14283 43656629 43656657 28 2238
PHF8 HeLaGSE20725 43658290 43659277 987 97
Rb SenescentGSE19898 43658503 43658973 470 143
p130 QuiescentGSE19898 43658689 43659067 378 3
p130 SenescentGSE19898 43658457 43659238 781 33
p130 shRbQuiescentGSE19898 43658496 43659231 735 17
p130 shRbSenescentGSE19898 43658391 43659261 870 55
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 43808537 43810133 1596 0
CTCF CD4GSE12889 43658841 43658957 116 0
CTCF CD4GSE12889 43830204 43830531 327 0
CTCF CD4SISSRdata 43658841 43658957 116 0
CTCF CD4SISSRdata 43830204 43830531 327 0
CTCF HelaGSE12889 43803468 43803670 202 0
ER E2-MCF7GSE14664 43673300 43673380 80 0
ER Fulvestrant-MCF7GSE14664 43684079 43684125 46 0
ER Fulvestrant-MCF7GSE14664 43684756 43684788 32 0
Fos K562GSE19551 43808892 43809437 545 0
Gata2 K562GSE18868 43671886 43672304 418 0
H3ac HepG2E 43658622 43660370 1748 0
Myc K562GSE19551 43671890 43672241 351 0
Myc K562GSE19551 43830285 43830594 309 0
Nanog hESGSE18292 43803500 43803638 138 0
Nanog hESGSE18292 43820256 43820567 311 0
Oct1 H2O2-HelaGSE14283 43682332 43682365 33 0
Oct1 HelaGSE14283 43673410 43673487 77 0
Oct1 HelaGSE14283 43682295 43682366 71 0
Oct1 HelaGSE14283 43684757 43684794 37 0
Oct1 HelaGSE14283 43696030 43696061 31 0
Oct1 HelaGSE14283 43707851 43707890 39 0
Oct1 HelaGSE14283 43773961 43773990 29 0
Oct1 HelaGSE14283 43791881 43791915 34 0
P300 T30-glioblastomaGSE21026 43808407 43809908 1501 0
P300 T30-glioblastomaGSE21026 43823743 43824468 725 0
PHF8 293TGSE20725 43658584 43659563 979 0
PHF8 Hs68minusFBSGSE20725 43658404 43659598 1194 0
PHF8 Hs68plusFBSGSE20725 43658390 43659861 1471 0
PolII HeLaGSE12783 43658505 43659895 1390 0
Rb GrowingGSE19898 43658837 43658958 121 0
TFAP2C MCF7GSE21234 43716921 43717492 571 0
hScc1 BcellGSE12603 43659057 43659543 486 0
hScc1 BcellGSE12603 43829993 43830492 499 0
hScc1 CdLSGSE12603 43658513 43659543 1030 0
hScc1 CdLSGSE12603 43829993 43830492 499 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-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-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-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-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-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-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 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-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 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-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
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
961 Unknown pSILAC miR-155 HSD17B12 down 75-50% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000149084 n_a n_a n_a "epithelium, squamous cell, lymphocyte, macrophage, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, 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
4335 mRNA HSD17B12 chr11 43658880 43834744 35 mRNA chr11 43807834 43811873Sense/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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