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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:MCAM-FN1 (FusionGDB2 ID:51812)

Fusion Gene Summary for MCAM-FN1

check button Fusion gene summary
Fusion gene informationFusion gene name: MCAM-FN1
Fusion gene ID: 51812
HgeneTgene
Gene symbol

MCAM

FN1

Gene ID

4162

2335

Gene namemelanoma cell adhesion moleculefibronectin 1
SynonymsCD146|HEMCAM|METCAM|MUC18|MelCAMCIG|ED-B|FINC|FN|FNZ|GFND|GFND2|LETS|MSF|SMDCF
Cytomap

11q23.3

2q35

Type of geneprotein-codingprotein-coding
Descriptioncell surface glycoprotein MUC18GicerinS-endo 1 endothelial-associated antigencell surface glycoprotein P1H12melanoma adhesion moleculemelanoma-associated antigen A32melanoma-associated antigen MUC18fibronectincold-insoluble globulinepididymis secretory sperm binding proteinmigration-stimulating factor
Modification date2020031320200329
UniProtAcc

P43121

P02751

Ensembl transtripts involved in fusion geneENST00000264036, ENST00000392814, 
ENST00000530144, 		ENST00000421182, 
ENST00000357867, ENST00000323926, 
ENST00000336916, ENST00000354785, 
ENST00000357009, ENST00000346544, 
ENST00000345488, ENST00000359671, 
ENST00000446046, ENST00000443816, 
ENST00000432072, ENST00000356005, 
ENST00000490833, ENST00000426059, 
Fusion gene scores* DoF score7 X 7 X 2=9835 X 39 X 9=12285
# samples 742
** MAII scorelog2(7/98*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(42/12285*10)=-4.8703647195834
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MCAM [Title/Abstract] AND FN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMCAM(119179658)-FN1(216236992), # 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
HgeneMCAM

GO:0001525

angiogenesis

23878390

TgeneFN1

GO:0001932

regulation of protein phosphorylation

11792823

TgeneFN1

GO:0008284

positive regulation of cell proliferation

25834989

TgeneFN1

GO:0010628

positive regulation of gene expression

25834989

TgeneFN1

GO:0018149

peptide cross-linking

3997886

TgeneFN1

GO:0034446

substrate adhesion-dependent cell spreading

16236823

TgeneFN1

GO:0035987

endodermal cell differentiation

23154389

TgeneFN1

GO:0048146

positive regulation of fibroblast proliferation

25834989

TgeneFN1

GO:0051702

interaction with symbiont

12167537|12421310|19429745

TgeneFN1

GO:0070372

regulation of ERK1 and ERK2 cascade

11792823

TgeneFN1

GO:1901166

neural crest cell migration involved in autonomic nervous system development

26571399

TgeneFN1

GO:1904237

positive regulation of substrate-dependent cell migration, cell attachment to substrate

25834989

TgeneFN1

GO:2001202

negative regulation of transforming growth factor-beta secretion

25834989


check buttonFusion gene breakpoints across MCAM (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 FN1 (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/AAA497002MCAMchr11

119179658

+FN1chr2

216236992

+


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Fusion Gene ORF analysis for MCAM-FN1

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-3CDSENST00000264036ENST00000421182MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000264036ENST00000357867MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000264036ENST00000323926MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000264036ENST00000336916MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000264036ENST00000354785MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000264036ENST00000357009MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000264036ENST00000346544MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000264036ENST00000345488MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000264036ENST00000359671MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000264036ENST00000446046MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000264036ENST00000443816MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000264036ENST00000432072MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000264036ENST00000356005MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000264036ENST00000490833MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000264036ENST00000426059MCAMchr11

119179658

+FN1chr2

216236992

+
intron-3CDSENST00000392814ENST00000421182MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000392814ENST00000357867MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000392814ENST00000323926MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000392814ENST00000336916MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000392814ENST00000354785MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000392814ENST00000357009MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000392814ENST00000346544MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000392814ENST00000345488MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000392814ENST00000359671MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000392814ENST00000446046MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000392814ENST00000443816MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000392814ENST00000432072MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000392814ENST00000356005MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000392814ENST00000490833MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000392814ENST00000426059MCAMchr11

119179658

+FN1chr2

216236992

+
intron-3CDSENST00000530144ENST00000421182MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000530144ENST00000357867MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000530144ENST00000323926MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000530144ENST00000336916MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000530144ENST00000354785MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000530144ENST00000357009MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000530144ENST00000346544MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000530144ENST00000345488MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000530144ENST00000359671MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000530144ENST00000446046MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000530144ENST00000443816MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000530144ENST00000432072MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000530144ENST00000356005MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000530144ENST00000490833MCAMchr11

119179658

+FN1chr2

216236992

+
intron-intronENST00000530144ENST00000426059MCAMchr11

119179658

+FN1chr2

216236992

+

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 MCAM-FN1


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 MCAM-FN1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

P43121

FN1

P02751

FUNCTION: Plays a role in cell adhesion, and in cohesion of the endothelial monolayer at intercellular junctions in vascular tissue. Its expression may allow melanoma cells to interact with cellular elements of the vascular system, thereby enhancing hematogeneous tumor spread. Could be an adhesion molecule active in neural crest cells during embryonic development. Acts as surface receptor that triggers tyrosine phosphorylation of FYN and PTK2/FAK1, and a transient increase in the intracellular calcium concentration. {ECO:0000269|PubMed:11036077, ECO:0000269|PubMed:8292890}.FUNCTION: Fibronectins bind cell surfaces and various compounds including collagen, fibrin, heparin, DNA, and actin (PubMed:3024962, PubMed:3900070, PubMed:3593230, PubMed:7989369). Fibronectins are involved in cell adhesion, cell motility, opsonization, wound healing, and maintenance of cell shape (PubMed:3024962, PubMed:3900070, PubMed:3593230, PubMed:7989369). Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process, essential for osteoblast mineralization (By similarity). Participates in the regulation of type I collagen deposition by osteoblasts (By similarity). Acts as a ligand for the LILRB4 receptor, inhibiting FCGR1A/CD64-mediated monocyte activation (PubMed:34089617). {ECO:0000250|UniProtKB:P11276, ECO:0000269|PubMed:3024962, ECO:0000269|PubMed:34089617, ECO:0000269|PubMed:3593230, ECO:0000269|PubMed:3900070, ECO:0000269|PubMed:7989369}.; FUNCTION: [Anastellin]: Binds fibronectin and induces fibril formation. This fibronectin polymer, named superfibronectin, exhibits enhanced adhesive properties. Both anastellin and superfibronectin inhibit tumor growth, angiogenesis and metastasis. Anastellin activates p38 MAPK and inhibits lysophospholipid signaling. {ECO:0000269|PubMed:11209058, ECO:0000269|PubMed:15665290, ECO:0000269|PubMed:19379667, ECO:0000269|PubMed:8114919}.

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 MCAM-FN1


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 MCAM-FN1


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 MCAM-FN1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneFN1P02751DB08888OcriplasminCleavageBiotechApproved
TgeneFN1P02751DB08888OcriplasminCleavageBiotechApproved
TgeneFN1P02751DB14548Zinc sulfate, unspecified formLigand|ModulatorSmall moleculeApproved|Experimental
TgeneFN1P02751DB14548Zinc sulfate, unspecified formLigand|ModulatorSmall moleculeApproved|Experimental
TgeneFN1P02751DB01593ZincSmall moleculeApproved|Investigational
TgeneFN1P02751DB01593ZincSmall moleculeApproved|Investigational
TgeneFN1P02751DB14487Zinc acetateSmall moleculeApproved|Investigational
TgeneFN1P02751DB14487Zinc acetateSmall moleculeApproved|Investigational
TgeneFN1P02751DB14533Zinc chlorideLigand|ModulatorSmall moleculeApproved|Investigational
TgeneFN1P02751DB14533Zinc chlorideLigand|ModulatorSmall moleculeApproved|Investigational

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Related Diseases for MCAM-FN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMCAMC0031149Peritoneal Neoplasms2CTD_human
HgeneMCAMC0345967Malignant mesothelioma2CTD_human
HgeneMCAMC0346990Carcinomatosis of peritoneal cavity2CTD_human
HgeneMCAMC0026769Multiple Sclerosis1CTD_human
HgeneMCAMC0600467Neurogenic Inflammation1CTD_human
HgeneMCAMC0751324Multiple Sclerosis, Acute Fulminating1CTD_human
HgeneMCAMC0751871Autoimmune Diseases of the Nervous System1CTD_human
HgeneMCAMC0751872Immune Disorders, Nervous System1CTD_human
TgeneFN1C0020538Hypertensive disease2CTD_human
TgeneFN1C0432221Spondylometaphyseal dysplasia, 'corner fracture' type2GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneFN1C0000786Spontaneous abortion1CTD_human
TgeneFN1C0000822Abortion, Tubal1CTD_human
TgeneFN1C0003504Aortic Valve Insufficiency1CTD_human
TgeneFN1C0006142Malignant neoplasm of breast1CTD_human;UNIPROT
TgeneFN1C0007097Carcinoma1CTD_human
TgeneFN1C0007621Neoplastic Cell Transformation1CTD_human
TgeneFN1C0010346Crohn Disease1CTD_human
TgeneFN1C0011849Diabetes Mellitus1CTD_human
TgeneFN1C0011881Diabetic Nephropathy1CTD_human
TgeneFN1C0017636Glioblastoma1CTD_human
TgeneFN1C0017667Nodular glomerulosclerosis1CTD_human
TgeneFN1C0017668Focal glomerulosclerosis1CTD_human
TgeneFN1C0024667Animal Mammary Neoplasms1CTD_human
TgeneFN1C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneFN1C0027626Neoplasm Invasiveness1CTD_human
TgeneFN1C0034069Pulmonary Fibrosis1CTD_human
TgeneFN1C0041956Ureteral obstruction1CTD_human
TgeneFN1C0085762Alcohol abuse1PSYGENET
TgeneFN1C0086432Hyalinosis, Segmental Glomerular1CTD_human
TgeneFN1C0149721Left Ventricular Hypertrophy1CTD_human
TgeneFN1C0156147Crohn's disease of large bowel1CTD_human
TgeneFN1C0205696Anaplastic carcinoma1CTD_human
TgeneFN1C0205697Carcinoma, Spindle-Cell1CTD_human
TgeneFN1C0205698Undifferentiated carcinoma1CTD_human
TgeneFN1C0205699Carcinomatosis1CTD_human
TgeneFN1C0267380Crohn's disease of the ileum1CTD_human
TgeneFN1C0334588Giant Cell Glioblastoma1CTD_human
TgeneFN1C0345967Malignant mesothelioma1CTD_human
TgeneFN1C0678202Regional enteritis1CTD_human
TgeneFN1C0678222Breast Carcinoma1CTD_human
TgeneFN1C0949272IIeocolitis1CTD_human
TgeneFN1C1257925Mammary Carcinoma, Animal1CTD_human
TgeneFN1C1257931Mammary Neoplasms, Human1CTD_human
TgeneFN1C1458155Mammary Neoplasms1CTD_human
TgeneFN1C1621958Glioblastoma Multiforme1CTD_human
TgeneFN1C1866075GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)1CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneFN1C3830362Early Pregnancy Loss1CTD_human
TgeneFN1C3888104Glomerulopathy with fibronectin deposits1CTD_human;ORPHANET
TgeneFN1C4552766Miscarriage1CTD_human
TgeneFN1C4704874Mammary Carcinoma, Human1CTD_human
TgeneFN1C4721507Alveolitis, Fibrosing1CTD_human