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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:FTH1-CAPNS1 (FusionGDB2 ID:31589)

Fusion Gene Summary for FTH1-CAPNS1

check button Fusion gene summary
Fusion gene informationFusion gene name: FTH1-CAPNS1
Fusion gene ID: 31589
HgeneTgene
Gene symbol

FTH1

CAPNS1

Gene ID

2495

826

Gene nameferritin heavy chain 1calpain small subunit 1
SynonymsFHC|FTH|FTHL6|HFE5|PIG15|PLIFCALPAIN4|CANP|CANPS|CAPN4|CDPS|CSS1
Cytomap

11q12.3

19q13.12

Type of geneprotein-codingprotein-coding
Descriptionferritin heavy chainapoferritincell proliferation-inducing gene 15 proteinferritin H subunitferritin, heavy polypeptide 1placenta immunoregulatory factorproliferation-inducing protein 15calpain small subunit 1CANP small subunitcalcium-activated neutral proteinase small subunitcalcium-dependent protease small subunit 1calcium-dependent protease, small subunitcalpain 4, small subunit (30K)calpain regulatory subunitcalpain, small pol
Modification date2020032920200313
UniProtAcc

P02794

P04632

Ensembl transtripts involved in fusion geneENST00000273550, ENST00000526640, 
ENST00000529191, ENST00000529631, 
ENST00000532601, 		ENST00000246533, 
ENST00000587718, ENST00000588780, 
ENST00000588815, ENST00000589146, 
ENST00000590874, 
Fusion gene scores* DoF score29 X 25 X 6=435017 X 17 X 6=1734
# samples 4920
** MAII scorelog2(49/4350*10)=-3.15016174662088
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(20/1734*10)=-3.11603199344711
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FTH1 [Title/Abstract] AND CAPNS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCAPNS1(36631928)-FTH1(61734922), # samples:3
FTH1(61734947)-CAPNS1(36632030), # samples:1
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
HgeneFTH1

GO:0006880

intracellular sequestering of iron ion

9924025

HgeneFTH1

GO:0048147

negative regulation of fibroblast proliferation

9924025


check buttonFusion gene breakpoints across FTH1 (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 CAPNS1 (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
ChiTaRS5.0N/ACF128359FTH1chr11

61734947

-CAPNS1chr19

36632030

+


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Fusion Gene ORF analysis for FTH1-CAPNS1

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-3CDSENST00000273550ENST00000246533FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-3CDSENST00000526640ENST00000246533FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-3CDSENST00000529191ENST00000246533FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-3CDSENST00000529631ENST00000246533FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-3CDSENST00000532601ENST00000246533FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000273550ENST00000587718FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000273550ENST00000588780FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000273550ENST00000588815FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000273550ENST00000589146FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000273550ENST00000590874FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000526640ENST00000587718FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000526640ENST00000588780FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000526640ENST00000588815FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000526640ENST00000589146FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000526640ENST00000590874FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000529191ENST00000587718FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000529191ENST00000588780FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000529191ENST00000588815FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000529191ENST00000589146FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000529191ENST00000590874FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000529631ENST00000587718FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000529631ENST00000588780FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000529631ENST00000588815FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000529631ENST00000589146FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000529631ENST00000590874FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000532601ENST00000587718FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000532601ENST00000588780FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000532601ENST00000588815FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000532601ENST00000589146FTH1chr11

61734947

-CAPNS1chr19

36632030

+
intron-intronENST00000532601ENST00000590874FTH1chr11

61734947

-CAPNS1chr19

36632030

+

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

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Fusion Genomic Features for FTH1-CAPNS1


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.

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Fusion Protein Features for FTH1-CAPNS1


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/:36631928/:61734922)
- 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
FTH1

P02794

CAPNS1

P04632

FUNCTION: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity). {ECO:0000250}.FUNCTION: Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction.

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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Fusion Gene Sequence for FTH1-CAPNS1


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.

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Fusion Gene PPI Analysis for FTH1-CAPNS1


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


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Related Drugs for FTH1-CAPNS1


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

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Related Diseases for FTH1-CAPNS1


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