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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: 15314

FusionGeneSummary for GPT2_HSD17B2

check button Fusion gene summary
Fusion gene informationFusion gene name: GPT2_HSD17B2
Fusion gene ID: 15314
HgeneTgene
Gene symbol

GPT2

HSD17B2

Gene ID

84706

3294

Gene nameglutamic--pyruvic transaminase 2hydroxysteroid 17-beta dehydrogenase 2
SynonymsALT2|GPT 2|MRT49EDH17B2|HSD17|SDR9C2
Cytomap

16q11.2

16q23.3

Type of geneprotein-codingprotein-coding
Descriptionalanine aminotransferase 2glutamate pyruvate transaminase 2glutamic pyruvate transaminase (alanine aminotransferase) 2glutamic pyruvate transaminase 2glutamic--alanine transaminase 2estradiol 17-beta-dehydrogenase 217-beta-HSD 217-beta-hydroxysteroid dehydrogenase type 220 alpha-hydroxysteroid dehydrogenase20-alpha-HSDE2DHmicrosomal 17-beta-hydroxysteroid dehydrogenaseshort chain dehydrogenase/reductase family 9C member 2test
Modification date2018051920180519
UniProtAcc

Q8TD30

P37059

Ensembl transtripts involved in fusion geneENST00000340124, ENST00000440783, 
ENST00000199936, 
Fusion gene scores* DoF score2 X 2 X 2=82 X 2 X 2=8
# samples 22
** MAII scorelog2(2/8*10)=1.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: GPT2 [Title/Abstract] AND HSD17B2 [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
HgeneGPT2

GO:0006103

2-oxoglutarate metabolic process

11863375

HgeneGPT2

GO:0042851

L-alanine metabolic process

11863375

TgeneHSD17B2

GO:0032526

response to retinoic acid

17538076


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
TCGARVLUADTCGA-MP-A4TF-01AGPT2chr16

46956328

+HSD17B2chr16

82104547

+
* 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
Frame-shitENST00000340124ENST00000199936GPT2chr16

46956328

+HSD17B2chr16

82104547

+
Frame-shitENST00000440783ENST00000199936GPT2chr16

46956328

+HSD17B2chr16

82104547

+

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FusionProtFeatures for GPT2_HSD17B2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GPT2

Q8TD30

HSD17B2

P37059

Catalyzes the reversible transamination between alanineand 2-oxoglutarate to form pyruvate and glutamate.{ECO:0000269|PubMed:11863375}. Capable of catalyzing the interconversion oftestosterone and androstenedione, as well as estradiol andestrone. Also has 20-alpha-HSD activity. Uses NADH while EDH17B3uses NADPH.

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 GPT2_HSD17B2


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 GPT2_HSD17B2


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
GPT2USP20, BABAM1, CUL3, APP, GPHA2, ADSL, AHCY, CCBL2, CFL1, GOT1, GPD1L, SOD2, THEM4, PLA2G10HSD17B2ERGIC2, MBNL2


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 GPT2_HSD17B2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneGPT2Q8TD30DB00780PhenelzineAlanine aminotransferase 2small moleculeapproved
HgeneGPT2Q8TD30DB00114Pyridoxal PhosphateAlanine aminotransferase 2small moleculeapproved|investigational|nutraceutical
HgeneGPT2Q8TD30DB00142Glutamic AcidAlanine aminotransferase 2small moleculeapproved|nutraceutical
TgeneHSD17B2P37059DB00783EstradiolEstradiol 17-beta-dehydrogenase 2small moleculeapproved|investigational|vet_approved

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RelatedDiseases for GPT2_HSD17B2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGPT2C4225388MENTAL RETARDATION, AUTOSOMAL RECESSIVE 491UNIPROT
TgeneHSD17B2C0014175Endometriosis2CTD_human
TgeneHSD17B2C0023893Liver Cirrhosis, Experimental2CTD_human
TgeneHSD17B2C0014170Endometrial Neoplasms1CTD_human