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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:DMC1-LMAN2L (FusionGDB2 ID:23214)

Fusion Gene Summary for DMC1-LMAN2L

check button Fusion gene summary
Fusion gene informationFusion gene name: DMC1-LMAN2L
Fusion gene ID: 23214
HgeneTgene
Gene symbol

DMC1

LMAN2L

Gene ID

283987

81562

Gene nameHID1 domain containinglectin, mannose binding 2 like
Synonyms17orf28|C17orf28|DMC1|HID-1MRT52|VIPL
Cytomap

17q25.1

2q11.2

Type of geneprotein-codingprotein-coding
Descriptionprotein HID1HID1 domain-containing proteinUPF0663 transmembrane protein C17orf28down-regulated in multiple cancers 1downregulated in multiple cancer 1protein hid-1 homologVIP36-like proteinLMAN2-like protein
Modification date2020031320200313
UniProtAcc

Q14565

Q9H0V9

Ensembl transtripts involved in fusion geneENST00000216024, ENST00000428462, 
ENST00000464842, 
ENST00000264963, 
ENST00000377079, ENST00000426463, 
ENST00000534882, ENST00000537039, 
Fusion gene scores* DoF score4 X 4 X 2=324 X 5 X 2=40
# samples 44
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/40*10)=0
Context

PubMed: DMC1 [Title/Abstract] AND LMAN2L [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDMC1(38954051)-LMAN2L(97392794), # 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

check buttonFusion gene breakpoints across DMC1 (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 LMAN2L (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/AEI793925DMC1chr22

38954051

+LMAN2Lchr2

97392794

-


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Fusion Gene ORF analysis for DMC1-LMAN2L

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-intronENST00000216024ENST00000264963DMC1chr22

38954051

+LMAN2Lchr2

97392794

-
intron-intronENST00000216024ENST00000377079DMC1chr22

38954051

+LMAN2Lchr2

97392794

-
intron-intronENST00000216024ENST00000426463DMC1chr22

38954051

+LMAN2Lchr2

97392794

-
intron-intronENST00000216024ENST00000534882DMC1chr22

38954051

+LMAN2Lchr2

97392794

-
intron-intronENST00000216024ENST00000537039DMC1chr22

38954051

+LMAN2Lchr2

97392794

-
intron-intronENST00000428462ENST00000264963DMC1chr22

38954051

+LMAN2Lchr2

97392794

-
intron-intronENST00000428462ENST00000377079DMC1chr22

38954051

+LMAN2Lchr2

97392794

-
intron-intronENST00000428462ENST00000426463DMC1chr22

38954051

+LMAN2Lchr2

97392794

-
intron-intronENST00000428462ENST00000534882DMC1chr22

38954051

+LMAN2Lchr2

97392794

-
intron-intronENST00000428462ENST00000537039DMC1chr22

38954051

+LMAN2Lchr2

97392794

-
intron-intronENST00000464842ENST00000264963DMC1chr22

38954051

+LMAN2Lchr2

97392794

-
intron-intronENST00000464842ENST00000377079DMC1chr22

38954051

+LMAN2Lchr2

97392794

-
intron-intronENST00000464842ENST00000426463DMC1chr22

38954051

+LMAN2Lchr2

97392794

-
intron-intronENST00000464842ENST00000534882DMC1chr22

38954051

+LMAN2Lchr2

97392794

-
intron-intronENST00000464842ENST00000537039DMC1chr22

38954051

+LMAN2Lchr2

97392794

-

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 DMC1-LMAN2L


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 DMC1-LMAN2L


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/:38954051/:97392794)
- 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
DMC1

Q14565

LMAN2L

Q9H0V9

FUNCTION: Participates in meiotic recombination, specifically in homologous strand assimilation, which is required for the resolution of meiotic double-strand breaks. {ECO:0000269|PubMed:21307306}.FUNCTION: May be involved in the regulation of export from the endoplasmic reticulum of a subset of glycoproteins. May function as a regulator of ERGIC-53. {ECO:0000269|PubMed:12878160}.

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 DMC1-LMAN2L


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 DMC1-LMAN2L


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 DMC1-LMAN2L


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 DMC1-LMAN2L


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