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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 16805

FusionGeneSummary for HSD17B12_TP53I11

check button Fusion gene summary
Fusion gene informationFusion gene name: HSD17B12_TP53I11
Fusion gene ID: 16805
HgeneTgene
Gene symbol

HSD17B12

TP53I11

Gene ID

51144

9537

Gene namehydroxysteroid 17-beta dehydrogenase 12tumor protein p53 inducible protein 11
SynonymsKAR|SDR12C1PIG11
Cytomap

11p11.2

11p11.2

Type of geneprotein-codingprotein-coding
Descriptionvery-long-chain 3-oxoacyl-CoA reductase17-beta-HSD 1217-beta-hydroxysteroid dehydrogenase 1217beta-HSD type 123-ketoacyl-CoA reductaseestradiol 17-beta-dehydrogenase 12short chain dehydrogenase/reductase family 12C member 1steroid dehydrogenase homtumor protein p53-inducible protein 11p53-induced gene 11 protein
Modification date2018052320180519
UniProtAcc

Q53GQ0

O14683

Ensembl transtripts involved in fusion geneENST00000529261, ENST00000278353, 
ENST00000395700, 
ENST00000395648, 
ENST00000308212, ENST00000533940, 
ENST00000525680, ENST00000531130, 
ENST00000531928, 
Fusion gene scores* DoF score4 X 5 X 3=604 X 4 X 2=32
# samples 54
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: HSD17B12 [Title/Abstract] AND TP53I11 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVHNSCTCGA-CR-6478-01AHSD17B12chr11

43837941

+TP53I11chr11

44960741

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-intronENST00000529261ENST00000395648HSD17B12chr11

43837941

+TP53I11chr11

44960741

-
3UTR-5UTRENST00000529261ENST00000308212HSD17B12chr11

43837941

+TP53I11chr11

44960741

-
3UTR-5UTRENST00000529261ENST00000533940HSD17B12chr11

43837941

+TP53I11chr11

44960741

-
3UTR-intronENST00000529261ENST00000525680HSD17B12chr11

43837941

+TP53I11chr11

44960741

-
3UTR-intronENST00000529261ENST00000531130HSD17B12chr11

43837941

+TP53I11chr11

44960741

-
3UTR-intronENST00000529261ENST00000531928HSD17B12chr11

43837941

+TP53I11chr11

44960741

-
5CDS-intronENST00000278353ENST00000395648HSD17B12chr11

43837941

+TP53I11chr11

44960741

-
5CDS-5UTRENST00000278353ENST00000308212HSD17B12chr11

43837941

+TP53I11chr11

44960741

-
5CDS-5UTRENST00000278353ENST00000533940HSD17B12chr11

43837941

+TP53I11chr11

44960741

-
5CDS-intronENST00000278353ENST00000525680HSD17B12chr11

43837941

+TP53I11chr11

44960741

-
5CDS-intronENST00000278353ENST00000531130HSD17B12chr11

43837941

+TP53I11chr11

44960741

-
5CDS-intronENST00000278353ENST00000531928HSD17B12chr11

43837941

+TP53I11chr11

44960741

-
intron-intronENST00000395700ENST00000395648HSD17B12chr11

43837941

+TP53I11chr11

44960741

-
intron-5UTRENST00000395700ENST00000308212HSD17B12chr11

43837941

+TP53I11chr11

44960741

-
intron-5UTRENST00000395700ENST00000533940HSD17B12chr11

43837941

+TP53I11chr11

44960741

-
intron-intronENST00000395700ENST00000525680HSD17B12chr11

43837941

+TP53I11chr11

44960741

-
intron-intronENST00000395700ENST00000531130HSD17B12chr11

43837941

+TP53I11chr11

44960741

-
intron-intronENST00000395700ENST00000531928HSD17B12chr11

43837941

+TP53I11chr11

44960741

-

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FusionProtFeatures for HSD17B12_TP53I11


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HSD17B12

Q53GQ0

TP53I11

O14683

Catalyzes the second of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to thechain of long- and very long-chain fatty acids/VLCFAs per cycle.This enzyme has a 3-ketoacyl-CoA reductase activity, reducing 3-ketoacyl-CoA to 3-hydroxyacyl-CoA, within each cycle of fatty acidelongation. Thereby, it may participate in the production ofVLCFAs of different chain lengths that are involved in multiplebiological processes as precursors of membrane lipids and lipidmediators. May also catalyze the transformation of estrone (E1)into estradiol (E2) and play a role in estrogen formation.{ECO:0000269|PubMed:12482854, ECO:0000269|PubMed:16166196}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for HSD17B12_TP53I11


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for HSD17B12_TP53I11


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
HSD17B12CLN3, UBC, UBL4A, MMS19, HDAC11, ADRB2, EGFR, ELOVL1, CERS2, HECW2, UBQLN1, RNF2, NTRK1, AFG3L2, ATP1A1, ATP5C1, COPB1, ETFA, FASN, AHSA1, ATP1B1, CYC1, IPO5, PPP2R1A, RAB1A, RPL36, SCD, SLC25A3, SSR3, TECR, TMCO1, TMED2, TOMM22, WARS, HSP90B1, PHB, RAB1B, RPN1, UQCRC2, TCTN2, TCTN3, OTUB1, MTMR14, NCDN, TRIM25, RNF157TP53I11ATXN1, TCTN2, TCTN3, MANSC1, YIPF3


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for HSD17B12_TP53I11


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for HSD17B12_TP53I11


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource