FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:HSDL2-FRMD3 (FusionGDB2 ID:37699)

Fusion Gene Summary for HSDL2-FRMD3

check button Fusion gene summary
Fusion gene informationFusion gene name: HSDL2-FRMD3
Fusion gene ID: 37699
HgeneTgene
Gene symbol

HSDL2

FRMD3

Gene ID

84263

257019

Gene namehydroxysteroid dehydrogenase like 2FERM domain containing 3
SynonymsC9orf99|SDR13C14.1O|EPB41L4O|EPB41LO|P410
Cytomap

9q32

9q21.32

Type of geneprotein-codingprotein-coding
Descriptionhydroxysteroid dehydrogenase-like protein 2short chain dehydrogenase/reductase family 13C member 1FERM domain-containing protein 3band 4.1-like protein 4band 4.1-like protein 4Oovary type protein 4.1protein 4.1O
Modification date2020031320200313
UniProtAcc

Q6YN16

A2A2Y4

Ensembl transtripts involved in fusion geneENST00000488101, ENST00000398803, 
ENST00000398805, ENST00000262542, 
ENST00000539114, 		ENST00000304195, 
ENST00000376438, ENST00000328788, 
ENST00000376434, ENST00000465485, 
Fusion gene scores* DoF score6 X 5 X 3=904 X 3 X 2=24
# samples 64
** MAII scorelog2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: HSDL2 [Title/Abstract] AND FRMD3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHSDL2(115142460)-FRMD3(86004623), # samples:4
Anticipated loss of major functional domain due to fusion event.
* 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 buttonFusion gene breakpoints across HSDL2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across FRMD3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-A2-A0EW-01AHSDL2chr9

115142460

-FRMD3chr9

86004623

-
ChimerDB4BRCATCGA-A2-A0EW-01AHSDL2chr9

115142460

+FRMD3chr9

86004623

-
ChimerDB4BRCATCGA-A2-A0EWHSDL2chr9

115142460

+FRMD3chr9

86004623

-


Top

Fusion Gene ORF analysis for HSDL2-FRMD3

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-3CDSENST00000488101ENST00000304195HSDL2chr9

115142460

+FRMD3chr9

86004623

-
3UTR-3CDSENST00000488101ENST00000376438HSDL2chr9

115142460

+FRMD3chr9

86004623

-
3UTR-intronENST00000488101ENST00000328788HSDL2chr9

115142460

+FRMD3chr9

86004623

-
3UTR-intronENST00000488101ENST00000376434HSDL2chr9

115142460

+FRMD3chr9

86004623

-
3UTR-intronENST00000488101ENST00000465485HSDL2chr9

115142460

+FRMD3chr9

86004623

-
5CDS-intronENST00000398803ENST00000328788HSDL2chr9

115142460

+FRMD3chr9

86004623

-
5CDS-intronENST00000398803ENST00000376434HSDL2chr9

115142460

+FRMD3chr9

86004623

-
5CDS-intronENST00000398803ENST00000465485HSDL2chr9

115142460

+FRMD3chr9

86004623

-
5CDS-intronENST00000398805ENST00000328788HSDL2chr9

115142460

+FRMD3chr9

86004623

-
5CDS-intronENST00000398805ENST00000376434HSDL2chr9

115142460

+FRMD3chr9

86004623

-
5CDS-intronENST00000398805ENST00000465485HSDL2chr9

115142460

+FRMD3chr9

86004623

-
5UTR-3CDSENST00000262542ENST00000304195HSDL2chr9

115142460

+FRMD3chr9

86004623

-
5UTR-3CDSENST00000262542ENST00000376438HSDL2chr9

115142460

+FRMD3chr9

86004623

-
5UTR-3CDSENST00000539114ENST00000304195HSDL2chr9

115142460

+FRMD3chr9

86004623

-
5UTR-3CDSENST00000539114ENST00000376438HSDL2chr9

115142460

+FRMD3chr9

86004623

-
5UTR-intronENST00000262542ENST00000328788HSDL2chr9

115142460

+FRMD3chr9

86004623

-
5UTR-intronENST00000262542ENST00000376434HSDL2chr9

115142460

+FRMD3chr9

86004623

-
5UTR-intronENST00000262542ENST00000465485HSDL2chr9

115142460

+FRMD3chr9

86004623

-
5UTR-intronENST00000539114ENST00000328788HSDL2chr9

115142460

+FRMD3chr9

86004623

-
5UTR-intronENST00000539114ENST00000376434HSDL2chr9

115142460

+FRMD3chr9

86004623

-
5UTR-intronENST00000539114ENST00000465485HSDL2chr9

115142460

+FRMD3chr9

86004623

-
Frame-shiftENST00000398803ENST00000304195HSDL2chr9

115142460

+FRMD3chr9

86004623

-
Frame-shiftENST00000398803ENST00000376438HSDL2chr9

115142460

+FRMD3chr9

86004623

-
Frame-shiftENST00000398805ENST00000304195HSDL2chr9

115142460

+FRMD3chr9

86004623

-
Frame-shiftENST00000398805ENST00000376438HSDL2chr9

115142460

+FRMD3chr9

86004623

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

Top

Fusion Genomic Features for HSDL2-FRMD3


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

Top

Fusion Protein Features for HSDL2-FRMD3


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:115142460/:86004623)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HSDL2

Q6YN16

FRMD3

A2A2Y4

FUNCTION: Has apparently no steroid dehydrogenase activity. {ECO:0000269|PubMed:19703561}.FUNCTION: Putative tumor suppressor gene that may be implicated in the origin and progression of lung cancer. {ECO:0000269|PubMed:17260017}.

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


Top

Fusion Gene Sequence for HSDL2-FRMD3


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

Top

Fusion Gene PPI Analysis for HSDL2-FRMD3


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


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


Top

Related Drugs for HSDL2-FRMD3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for HSDL2-FRMD3


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