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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 21254

FusionGeneSummary for MCAM_CELF2

check button Fusion gene summary
Fusion gene informationFusion gene name: MCAM_CELF2
Fusion gene ID: 21254
HgeneTgene
Gene symbol

MCAM

CELF2

Gene ID

4162

10659

Gene namemelanoma cell adhesion moleculeCUGBP Elav-like family member 2
SynonymsCD146|MUC18BRUNOL3|CELF-2|CUG-BP2|CUGBP2|ETR-3|ETR3|NAPOR
Cytomap

11q23.3

10p14

Type of geneprotein-codingprotein-coding
Descriptioncell surface glycoprotein MUC18GicerinS-endo 1 endothelial-associated antigencell surface glycoprotein P1H12melanoma adhesion moleculemelanoma-associated antigen A32melanoma-associated antigen MUC18CUGBP Elav-like family member 2CUG triplet repeat RNA-binding protein 2CUG-BP- and ETR-3-like factor 2ELAV-type RNA-binding protein 3KDM2B/CELF2 fusionRNA-binding protein BRUNOL-3bruno-like protein 3neuroblastoma apoptosis-related RNA-binding prote
Modification date2018052220180523
UniProtAcc

P43121

O95319

Ensembl transtripts involved in fusion geneENST00000264036, ENST00000392814, 
ENST00000530144, 
ENST00000379261, 
ENST00000416382, ENST00000450189, 
ENST00000542579, ENST00000399850, 
ENST00000417956, ENST00000354440, 
ENST00000427450, ENST00000315874, 
ENST00000608830, ENST00000609692, 
ENST00000354897, ENST00000537122, 
Fusion gene scores* DoF score5 X 5 X 1=256 X 7 X 2=84
# samples 57
** MAII scorelog2(5/25*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/84*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MCAM [Title/Abstract] AND CELF2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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

TgeneCELF2

GO:0006376

mRNA splice site selection

11158314


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AW897878MCAMchr11

119179531

-CELF2chr10

11317287

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-intronENST00000264036ENST00000379261MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000264036ENST00000416382MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000264036ENST00000450189MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000264036ENST00000542579MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000264036ENST00000399850MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000264036ENST00000417956MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000264036ENST00000354440MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000264036ENST00000427450MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000264036ENST00000315874MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000264036ENST00000608830MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000264036ENST00000609692MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000264036ENST00000354897MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000264036ENST00000537122MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000392814ENST00000379261MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000392814ENST00000416382MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000392814ENST00000450189MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000392814ENST00000542579MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000392814ENST00000399850MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000392814ENST00000417956MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000392814ENST00000354440MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000392814ENST00000427450MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000392814ENST00000315874MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000392814ENST00000608830MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000392814ENST00000609692MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000392814ENST00000354897MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000392814ENST00000537122MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000530144ENST00000379261MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000530144ENST00000416382MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000530144ENST00000450189MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000530144ENST00000542579MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000530144ENST00000399850MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000530144ENST00000417956MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000530144ENST00000354440MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000530144ENST00000427450MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000530144ENST00000315874MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000530144ENST00000608830MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000530144ENST00000609692MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000530144ENST00000354897MCAMchr11

119179531

-CELF2chr10

11317287

-
intron-intronENST00000530144ENST00000537122MCAMchr11

119179531

-CELF2chr10

11317287

-

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FusionProtFeatures for MCAM_CELF2


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

P43121

CELF2

O95319

Plays a role in cell adhesion, and in cohesion of theendothelial monolayer at intercellular junctions in vasculartissue. Its expression may allow melanoma cells to interact withcellular elements of the vascular system, thereby enhancinghematogeneous tumor spread. Could be an adhesion molecule activein neural crest cells during embryonic development. Acts assurface receptor that triggers tyrosine phosphorylation of FYN andPTK2/FAK1, and a transient increase in the intracellular calciumconcentration. {ECO:0000269|PubMed:11036077,ECO:0000269|PubMed:8292890}.

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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FusionGeneSequence for MCAM_CELF2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MCAM_CELF2


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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RelatedDrugs for MCAM_CELF2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MCAM_CELF2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMCAMC0031149Peritoneal Neoplasms2CTD_human
HgeneMCAMC0345967Malignant mesothelioma2CTD_human
HgeneMCAMC0026769Multiple Sclerosis1CTD_human
HgeneMCAMC0600467Neurogenic Inflammation1CTD_human
HgeneMCAMC0751871Autoimmune Diseases of the Nervous System1CTD_human
TgeneCELF2C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCELF2C0036341Schizophrenia1CTD_human
TgeneCELF2C0038325Stevens-Johnson Syndrome1CTD_human