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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:HMGN1-LCA5L (FusionGDB2 ID:36929)

Fusion Gene Summary for HMGN1-LCA5L

check button Fusion gene summary
Fusion gene informationFusion gene name: HMGN1-LCA5L
Fusion gene ID: 36929
HgeneTgene
Gene symbol

HMGN1

LCA5L

Gene ID

3150

150082

Gene namehigh mobility group nucleosome binding domain 1lebercilin LCA5 like
SynonymsHMG14C21orf13
Cytomap

21q22.2

21q22.2

Type of geneprotein-codingprotein-coding
Descriptionnon-histone chromosomal protein HMG-14high mobility group nucleosome-binding domain-containing protein 1high-mobility group (nonhistone chromosomal) protein 14high-mobility group nucleosome binding 1nonhistone chromosomal protein HMG-14lebercilin-like proteinLCA5L, lebercilin likeleber congenital amaurosis 5-like protein
Modification date2020032020200313
UniProtAcc

P05114

O95447

Ensembl transtripts involved in fusion geneENST00000380747, ENST00000380748, 
ENST00000380749, ENST00000489072, 
ENST00000361263, 
ENST00000288350, 
ENST00000358268, ENST00000380671, 
ENST00000485895, ENST00000495240, 
Fusion gene scores* DoF score5 X 4 X 4=803 X 4 X 3=36
# samples 53
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/36*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HMGN1 [Title/Abstract] AND LCA5L [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHMGN1(40720218)-LCA5L(40801137), # samples:1
HMGN1(40720218)-LCA5L(40807499), # samples:1
HMGN1(40720218)-LCA5L(40795416), # samples:1
HMGN1(40720218)-LCA5L(40810644), # samples:1
Anticipated loss of major functional domain due to fusion event.HMGN1-LCA5L seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor 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

check buttonFusion gene breakpoints across HMGN1 (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 LCA5L (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
ChimerDB4OVTCGA-23-1030-01AHMGN1chr21

40720218

-LCA5Lchr21

40795416

-
ChimerDB4OVTCGA-23-1030-01AHMGN1chr21

40720218

-LCA5Lchr21

40801137

-
ChimerDB4OVTCGA-23-1030-01AHMGN1chr21

40720218

-LCA5Lchr21

40807499

-
ChimerDB4OVTCGA-23-1030-01AHMGN1chr21

40720218

-LCA5Lchr21

40810644

-


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Fusion Gene ORF analysis for HMGN1-LCA5L

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-5UTRENST00000380747ENST00000288350HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
5CDS-5UTRENST00000380747ENST00000288350HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
5CDS-5UTRENST00000380747ENST00000358268HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
5CDS-5UTRENST00000380747ENST00000358268HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
5CDS-5UTRENST00000380747ENST00000380671HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
5CDS-5UTRENST00000380747ENST00000380671HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
5CDS-5UTRENST00000380747ENST00000485895HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
5CDS-5UTRENST00000380747ENST00000485895HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
5CDS-5UTRENST00000380748ENST00000288350HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
5CDS-5UTRENST00000380748ENST00000288350HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
5CDS-5UTRENST00000380748ENST00000358268HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
5CDS-5UTRENST00000380748ENST00000358268HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
5CDS-5UTRENST00000380748ENST00000380671HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
5CDS-5UTRENST00000380748ENST00000380671HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
5CDS-5UTRENST00000380748ENST00000485895HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
5CDS-5UTRENST00000380748ENST00000485895HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
5CDS-5UTRENST00000380749ENST00000288350HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
5CDS-5UTRENST00000380749ENST00000288350HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
5CDS-5UTRENST00000380749ENST00000358268HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
5CDS-5UTRENST00000380749ENST00000358268HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
5CDS-5UTRENST00000380749ENST00000380671HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
5CDS-5UTRENST00000380749ENST00000380671HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
5CDS-5UTRENST00000380749ENST00000485895HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
5CDS-5UTRENST00000380749ENST00000485895HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
5CDS-intronENST00000380747ENST00000288350HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
5CDS-intronENST00000380747ENST00000358268HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
5CDS-intronENST00000380747ENST00000380671HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
5CDS-intronENST00000380747ENST00000485895HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
5CDS-intronENST00000380747ENST00000485895HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
5CDS-intronENST00000380747ENST00000495240HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
5CDS-intronENST00000380747ENST00000495240HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
5CDS-intronENST00000380747ENST00000495240HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
5CDS-intronENST00000380747ENST00000495240HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
5CDS-intronENST00000380748ENST00000288350HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
5CDS-intronENST00000380748ENST00000358268HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
5CDS-intronENST00000380748ENST00000380671HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
5CDS-intronENST00000380748ENST00000485895HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
5CDS-intronENST00000380748ENST00000485895HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
5CDS-intronENST00000380748ENST00000495240HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
5CDS-intronENST00000380748ENST00000495240HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
5CDS-intronENST00000380748ENST00000495240HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
5CDS-intronENST00000380748ENST00000495240HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
5CDS-intronENST00000380749ENST00000288350HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
5CDS-intronENST00000380749ENST00000358268HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
5CDS-intronENST00000380749ENST00000380671HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
5CDS-intronENST00000380749ENST00000485895HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
5CDS-intronENST00000380749ENST00000485895HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
5CDS-intronENST00000380749ENST00000495240HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
5CDS-intronENST00000380749ENST00000495240HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
5CDS-intronENST00000380749ENST00000495240HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
5CDS-intronENST00000380749ENST00000495240HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
5UTR-3CDSENST00000489072ENST00000288350HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
5UTR-3CDSENST00000489072ENST00000358268HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
5UTR-3CDSENST00000489072ENST00000380671HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
5UTR-5UTRENST00000489072ENST00000288350HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
5UTR-5UTRENST00000489072ENST00000288350HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
5UTR-5UTRENST00000489072ENST00000358268HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
5UTR-5UTRENST00000489072ENST00000358268HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
5UTR-5UTRENST00000489072ENST00000380671HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
5UTR-5UTRENST00000489072ENST00000380671HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
5UTR-5UTRENST00000489072ENST00000485895HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
5UTR-5UTRENST00000489072ENST00000485895HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
5UTR-intronENST00000489072ENST00000288350HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
5UTR-intronENST00000489072ENST00000358268HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
5UTR-intronENST00000489072ENST00000380671HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
5UTR-intronENST00000489072ENST00000485895HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
5UTR-intronENST00000489072ENST00000485895HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
5UTR-intronENST00000489072ENST00000495240HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
5UTR-intronENST00000489072ENST00000495240HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
5UTR-intronENST00000489072ENST00000495240HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
5UTR-intronENST00000489072ENST00000495240HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
Frame-shiftENST00000380747ENST00000288350HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
Frame-shiftENST00000380747ENST00000358268HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
Frame-shiftENST00000380747ENST00000380671HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
Frame-shiftENST00000380748ENST00000288350HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
Frame-shiftENST00000380748ENST00000358268HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
Frame-shiftENST00000380748ENST00000380671HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
Frame-shiftENST00000380749ENST00000288350HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
Frame-shiftENST00000380749ENST00000358268HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
Frame-shiftENST00000380749ENST00000380671HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
intron-3CDSENST00000361263ENST00000288350HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
intron-3CDSENST00000361263ENST00000358268HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
intron-3CDSENST00000361263ENST00000380671HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
intron-5UTRENST00000361263ENST00000288350HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
intron-5UTRENST00000361263ENST00000288350HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
intron-5UTRENST00000361263ENST00000358268HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
intron-5UTRENST00000361263ENST00000358268HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
intron-5UTRENST00000361263ENST00000380671HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
intron-5UTRENST00000361263ENST00000380671HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
intron-5UTRENST00000361263ENST00000485895HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
intron-5UTRENST00000361263ENST00000485895HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
intron-intronENST00000361263ENST00000288350HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
intron-intronENST00000361263ENST00000358268HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
intron-intronENST00000361263ENST00000380671HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
intron-intronENST00000361263ENST00000485895HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
intron-intronENST00000361263ENST00000485895HMGN1chr21

40720218

-LCA5Lchr21

40810644

-
intron-intronENST00000361263ENST00000495240HMGN1chr21

40720218

-LCA5Lchr21

40795416

-
intron-intronENST00000361263ENST00000495240HMGN1chr21

40720218

-LCA5Lchr21

40801137

-
intron-intronENST00000361263ENST00000495240HMGN1chr21

40720218

-LCA5Lchr21

40807499

-
intron-intronENST00000361263ENST00000495240HMGN1chr21

40720218

-LCA5Lchr21

40810644

-

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 HMGN1-LCA5L


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 HMGN1-LCA5L


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/:40720218/:40801137)
- 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
HMGN1

P05114

LCA5L

O95447

FUNCTION: Binds to the inner side of the nucleosomal DNA thus altering the interaction between the DNA and the histone octamer. May be involved in the process which maintains transcribable genes in a unique chromatin conformation. Inhibits the phosphorylation of nucleosomal histones H3 and H2A by RPS6KA5/MSK1 and RPS6KA3/RSK2 (By similarity). {ECO:0000250}.

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 HMGN1-LCA5L


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 HMGN1-LCA5L


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 HMGN1-LCA5L


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 HMGN1-LCA5L


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