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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: 15517

FusionGeneSummary for GSE1_HSD17B2

check button Fusion gene summary
Fusion gene informationFusion gene name: GSE1_HSD17B2
Fusion gene ID: 15517
HgeneTgene
Gene symbol

GSE1

HSD17B2

Gene ID

23199

3294

Gene nameGse1 coiled-coil proteinhydroxysteroid 17-beta dehydrogenase 2
SynonymsCRHSP24|KIAA0182EDH17B2|HSD17|SDR9C2
Cytomap

16q24.1

16q23.3

Type of geneprotein-codingprotein-coding
Descriptiongenetic suppressor element 1CTC-786C10.1Gse1 coiled-coil protein homologestradiol 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

Q14687

P37059

Ensembl transtripts involved in fusion geneENST00000405402, ENST00000253458, 
ENST00000393243, ENST00000471070, 
ENST00000199936, 
Fusion gene scores* DoF score13 X 9 X 7=8192 X 2 X 2=8
# samples 132
** MAII scorelog2(13/819*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: GSE1 [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
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
TCGALDBRCATCGA-A2-A25A-01AGSE1chr16

85667738

+HSD17B2chr16

82101775

+
* 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
intron-3CDSENST00000405402ENST00000199936GSE1chr16

85667738

+HSD17B2chr16

82101775

+
In-frameENST00000253458ENST00000199936GSE1chr16

85667738

+HSD17B2chr16

82101775

+
intron-3CDSENST00000393243ENST00000199936GSE1chr16

85667738

+HSD17B2chr16

82101775

+
intron-3CDSENST00000471070ENST00000199936GSE1chr16

85667738

+HSD17B2chr16

82101775

+

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FusionProtFeatures for GSE1_HSD17B2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GSE1

Q14687

HSD17B2

P37059

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 GSE1_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.
>In-frame_GSE1_ENST00000253458_chr16_85667738_+_HSD17B2_ENST00000199936_chr16_82101775_+_375aa
MKGMSHEPKSPSLGMLSTATRTTATVNPLTPSPLNGALVPSGSPATSSALSAQAAPSSSFAAALRKLAKQAEEPRGGDCGLGHALCKTLD
ELGFTVFAGVLNENGPGAEELRRTCSPRLSVLQMDITKPVQIKDAYSKVAAMLQDRGLWAVINNAGVLGFPTDGELLLMTDYKQCMAVNF
FGTVEVTKTFLPLLRKSKGRLVNVSSMGGGAPMERLASTGSSKAAVTMFSSVMRLELSKWGIKVASIQPGGFLTNIAGTSDKWEKLEKDI
LDHLPAEVQEDYGQDYILAQRNFLLLINSLASKDFSPVLRDIQHAILAKSPFATYTPGKGAYLWICLAHTLPIGITDYFAKRHFGQDKPM


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_GSE1_ENST00000253458_chr16_85667738_+_HSD17B2_ENST00000199936_chr16_82101775_+_1125nt
ATGAAAGGCATGAGCCATGAGCCCAAGTCCCCTTCGCTAGGGATGCTTTCCACCGCGACCAGGACCACCGCCACCGTCAACCCCCTCACC
CCCTCGCCGCTCAATGGCGCCCTGGTGCCCAGCGGCAGCCCCGCCACCAGCAGCGCGCTGTCGGCCCAGGCCGCGCCATCCTCCAGCTTT
GCCGCCGCGCTGCGCAAGCTCGCCAAACAGGCGGAGGAGCCCAGAGGTGGTGATTGCGGGCTTGGCCATGCTTTGTGCAAGTATCTGGAT
GAGCTGGGCTTCACGGTATTTGCCGGAGTTTTGAATGAAAATGGCCCAGGAGCTGAGGAATTGCGAAGAACCTGCTCTCCGCGCCTCTCG
GTGCTCCAAATGGACATCACGAAGCCAGTGCAGATAAAAGATGCTTACAGCAAGGTTGCAGCAATGCTGCAGGACAGAGGACTGTGGGCT
GTGATCAACAATGCTGGGGTGCTTGGCTTTCCAACTGATGGGGAGCTTCTTCTTATGACTGACTACAAACAATGCATGGCCGTGAACTTC
TTTGGAACTGTGGAGGTCACAAAGACGTTTTTGCCTCTTCTTAGAAAATCCAAAGGGAGGCTGGTGAATGTCAGCAGCATGGGAGGAGGG
GCCCCAATGGAAAGGCTGGCATCTTATGGCTCATCAAAGGCGGCTGTGACCATGTTCTCATCAGTTATGAGACTGGAGCTTTCCAAGTGG
GGAATTAAAGTTGCTTCCATCCAACCTGGAGGCTTCCTAACAAATATCGCAGGCACCAGTGACAAGTGGGAAAAGCTGGAGAAGGACATT
CTGGACCACCTCCCCGCTGAGGTACAGGAAGACTACGGCCAGGACTACATCTTAGCACAGCGGAATTTCCTCCTATTGATCAACTCGTTA
GCCAGCAAGGACTTCTCTCCGGTGCTGCGGGACATCCAGCATGCTATCTTGGCGAAGAGCCCTTTTGCCTATTACACGCCAGGGAAAGGC
GCTTACTTGTGGATCTGCCTTGCTCACTATTTGCCTATTGGCATATATGATTACTTTGCTAAAAGACATTTTGGCCAAGACAAGCCCATG


* Fusion transcript sequences (Full-length transcript).
>In-frame_GSE1_ENST00000253458_chr16_85667738_+_HSD17B2_ENST00000199936_chr16_82101775_+_1399nt
TCCTCGGCGGCGACAGCAGCAGGTGTTTCTTGGCCGGGGCCCCGGAAGCTCCACCTCCCCAGCGGGCCCGAGCTGCCGCCGCCGAGCAGC
CCCGGGTGAGATAAGCAGTTTAGACAAACACTGGGCGACGGTGGCTCCAGCATGTATCAGCCGAGGTGGAGCTGCGGGGCCCTGGCATGA
AAGGCATGAGCCATGAGCCCAAGTCCCCTTCGCTAGGGATGCTTTCCACCGCGACCAGGACCACCGCCACCGTCAACCCCCTCACCCCCT
CGCCGCTCAATGGCGCCCTGGTGCCCAGCGGCAGCCCCGCCACCAGCAGCGCGCTGTCGGCCCAGGCCGCGCCATCCTCCAGCTTTGCCG
CCGCGCTGCGCAAGCTCGCCAAACAGGCGGAGGAGCCCAGAGGTGGTGATTGCGGGCTTGGCCATGCTTTGTGCAAGTATCTGGATGAGC
TGGGCTTCACGGTATTTGCCGGAGTTTTGAATGAAAATGGCCCAGGAGCTGAGGAATTGCGAAGAACCTGCTCTCCGCGCCTCTCGGTGC
TCCAAATGGACATCACGAAGCCAGTGCAGATAAAAGATGCTTACAGCAAGGTTGCAGCAATGCTGCAGGACAGAGGACTGTGGGCTGTGA
TCAACAATGCTGGGGTGCTTGGCTTTCCAACTGATGGGGAGCTTCTTCTTATGACTGACTACAAACAATGCATGGCCGTGAACTTCTTTG
GAACTGTGGAGGTCACAAAGACGTTTTTGCCTCTTCTTAGAAAATCCAAAGGGAGGCTGGTGAATGTCAGCAGCATGGGAGGAGGGGCCC
CAATGGAAAGGCTGGCATCTTATGGCTCATCAAAGGCGGCTGTGACCATGTTCTCATCAGTTATGAGACTGGAGCTTTCCAAGTGGGGAA
TTAAAGTTGCTTCCATCCAACCTGGAGGCTTCCTAACAAATATCGCAGGCACCAGTGACAAGTGGGAAAAGCTGGAGAAGGACATTCTGG
ACCACCTCCCCGCTGAGGTACAGGAAGACTACGGCCAGGACTACATCTTAGCACAGCGGAATTTCCTCCTATTGATCAACTCGTTAGCCA
GCAAGGACTTCTCTCCGGTGCTGCGGGACATCCAGCATGCTATCTTGGCGAAGAGCCCTTTTGCCTATTACACGCCAGGGAAAGGCGCTT
ACTTGTGGATCTGCCTTGCTCACTATTTGCCTATTGGCATATATGATTACTTTGCTAAAAGACATTTTGGCCAAGACAAGCCCATGCCCA
GAGCTCTAAGAATGCCTAACTACAAGAAAAAGGCCACCTAGGCAATGGAAGCCCTCAAAGAAGTCGGAATGTCATAGTCTTGAAATGAAA


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FusionGenePPI for GSE1_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
GSE1NUDT18, RBPMS, RCOR3, HDAC2, KDM1A, RBM48, XRCC6, NR2E1, CDC5L, CEP63, TNIK, ELAVL1, TCF3, FUS, HDAC1, MTA3, EXOSC6, DGCR6, RUNX1T1, GOLGA2, TRIP6, RALBP1, GSE1, C1orf94, TEKT4, C6orf165, SNAI1, HMG20B, FGF1, DOK4, NTRK1, SRPK2, NINL, MAPK3, HMG20A, TCF4, EYA2, LLGL2, HAO2, FAM136A, NR3C1, AR, TRIM25HSD17B2ERGIC2, 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 GSE1_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
TgeneHSD17B2P37059DB00783EstradiolEstradiol 17-beta-dehydrogenase 2small moleculeapproved|investigational|vet_approved

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RelatedDiseases for GSE1_HSD17B2


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