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:ASS1-HMCN2 (FusionGDB2 ID:7256)

Fusion Gene Summary for ASS1-HMCN2

check button Fusion gene summary
Fusion gene informationFusion gene name: ASS1-HMCN2
Fusion gene ID: 7256
HgeneTgene
Gene symbol

ASS1

HMCN2

Gene ID

445

256158

Gene nameargininosuccinate synthase 1hemicentin 2
SynonymsASS|CTLN1-
Cytomap

9q34.11

9q34.11

Type of geneprotein-codingprotein-coding
Descriptionargininosuccinate synthaseargininosuccinate synthetase 1citrulline-aspartate ligaseepididymis secretory sperm binding proteinhemicentin-2
Modification date2020031320200313
UniProtAcc

P00966

Q8NDA2

Ensembl transtripts involved in fusion geneENST00000352480, ENST00000372393, 
ENST00000372394, ENST00000493984, 
ENST00000487727, ENST00000302481, 
ENST00000428715, 
Fusion gene scores* DoF score3 X 5 X 4=604 X 4 X 4=64
# samples 45
** MAII scorelog2(4/60*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/64*10)=-0.356143810225275
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ASS1 [Title/Abstract] AND HMCN2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointASS1(133329760)-HMCN2(133294159), # samples:2
Anticipated loss of major functional domain due to fusion event.ASS1-HMCN2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ASS1-HMCN2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ASS1-HMCN2 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
ASS1-HMCN2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgeneASS1

GO:0007623

circadian rhythm

28985504


check buttonFusion gene breakpoints across ASS1 (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 HMCN2 (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
ChimerDB4LIHCTCGA-ZS-A9CF-02AASS1chr9

133320382

+HMCN2chr9

133297964

+
ChimerDB4LIHCTCGA-ZS-A9CF-02AASS1chr9

133327720

+HMCN2chr9

133297964

+
ChimerDB4OVTCGA-36-1570-01AASS1chr9

133329760

+HMCN2chr9

133294159

+


Top

Fusion Gene ORF analysis for ASS1-HMCN2

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
5CDS-3UTRENST00000352480ENST00000487727ASS1chr9

133329760

+HMCN2chr9

133294159

+
5CDS-3UTRENST00000372393ENST00000487727ASS1chr9

133329760

+HMCN2chr9

133294159

+
5CDS-3UTRENST00000372394ENST00000487727ASS1chr9

133329760

+HMCN2chr9

133294159

+
5CDS-intronENST00000352480ENST00000302481ASS1chr9

133327720

+HMCN2chr9

133297964

+
5CDS-intronENST00000352480ENST00000302481ASS1chr9

133329760

+HMCN2chr9

133294159

+
5CDS-intronENST00000352480ENST00000487727ASS1chr9

133327720

+HMCN2chr9

133297964

+
5CDS-intronENST00000372393ENST00000302481ASS1chr9

133327720

+HMCN2chr9

133297964

+
5CDS-intronENST00000372393ENST00000302481ASS1chr9

133329760

+HMCN2chr9

133294159

+
5CDS-intronENST00000372393ENST00000487727ASS1chr9

133327720

+HMCN2chr9

133297964

+
5CDS-intronENST00000372394ENST00000302481ASS1chr9

133327720

+HMCN2chr9

133297964

+
5CDS-intronENST00000372394ENST00000302481ASS1chr9

133329760

+HMCN2chr9

133294159

+
5CDS-intronENST00000372394ENST00000487727ASS1chr9

133327720

+HMCN2chr9

133297964

+
5UTR-3CDSENST00000352480ENST00000428715ASS1chr9

133320382

+HMCN2chr9

133297964

+
5UTR-3CDSENST00000372393ENST00000428715ASS1chr9

133320382

+HMCN2chr9

133297964

+
5UTR-3CDSENST00000372394ENST00000428715ASS1chr9

133320382

+HMCN2chr9

133297964

+
5UTR-intronENST00000352480ENST00000302481ASS1chr9

133320382

+HMCN2chr9

133297964

+
5UTR-intronENST00000352480ENST00000487727ASS1chr9

133320382

+HMCN2chr9

133297964

+
5UTR-intronENST00000372393ENST00000302481ASS1chr9

133320382

+HMCN2chr9

133297964

+
5UTR-intronENST00000372393ENST00000487727ASS1chr9

133320382

+HMCN2chr9

133297964

+
5UTR-intronENST00000372394ENST00000302481ASS1chr9

133320382

+HMCN2chr9

133297964

+
5UTR-intronENST00000372394ENST00000487727ASS1chr9

133320382

+HMCN2chr9

133297964

+
Frame-shiftENST00000352480ENST00000428715ASS1chr9

133327720

+HMCN2chr9

133297964

+
Frame-shiftENST00000352480ENST00000428715ASS1chr9

133329760

+HMCN2chr9

133294159

+
Frame-shiftENST00000372393ENST00000428715ASS1chr9

133327720

+HMCN2chr9

133297964

+
Frame-shiftENST00000372393ENST00000428715ASS1chr9

133329760

+HMCN2chr9

133294159

+
Frame-shiftENST00000372394ENST00000428715ASS1chr9

133327720

+HMCN2chr9

133297964

+
Frame-shiftENST00000372394ENST00000428715ASS1chr9

133329760

+HMCN2chr9

133294159

+
intron-3CDSENST00000493984ENST00000428715ASS1chr9

133320382

+HMCN2chr9

133297964

+
intron-3CDSENST00000493984ENST00000428715ASS1chr9

133327720

+HMCN2chr9

133297964

+
intron-3CDSENST00000493984ENST00000428715ASS1chr9

133329760

+HMCN2chr9

133294159

+
intron-3UTRENST00000493984ENST00000487727ASS1chr9

133329760

+HMCN2chr9

133294159

+
intron-intronENST00000493984ENST00000302481ASS1chr9

133320382

+HMCN2chr9

133297964

+
intron-intronENST00000493984ENST00000302481ASS1chr9

133327720

+HMCN2chr9

133297964

+
intron-intronENST00000493984ENST00000302481ASS1chr9

133329760

+HMCN2chr9

133294159

+
intron-intronENST00000493984ENST00000487727ASS1chr9

133320382

+HMCN2chr9

133297964

+
intron-intronENST00000493984ENST00000487727ASS1chr9

133327720

+HMCN2chr9

133297964

+

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 ASS1-HMCN2


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)
ASS1chr9133329760+HMCN2chr9133294158+0.0001045460.99989545
ASS1chr9133327720+HMCN2chr9133297963+1.29E-050.9999871
ASS1chr9133320382+HMCN2chr9133297963+1.13E-060.9999989
ASS1chr9133329760+HMCN2chr9133294158+0.0001045460.99989545
ASS1chr9133327720+HMCN2chr9133297963+1.29E-050.9999871
ASS1chr9133320382+HMCN2chr9133297963+1.13E-060.9999989

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.
genomic feature of top 1%

Top

Fusion Protein Features for ASS1-HMCN2


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/:133329760/:133294159)
- 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
ASS1

P00966

HMCN2

Q8NDA2

FUNCTION: One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues. {ECO:0000305|PubMed:18473344, ECO:0000305|PubMed:27287393, ECO:0000305|PubMed:8792870}.

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 ASS1-HMCN2


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 ASS1-HMCN2


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 ASS1-HMCN2


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 ASS1-HMCN2


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