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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: 21253

FusionGeneSummary for MCAM_C1D

check button Fusion gene summary
Fusion gene informationFusion gene name: MCAM_C1D
Fusion gene ID: 21253
HgeneTgene
Gene symbol

MCAM

C1D

Gene ID

4162

10438

Gene namemelanoma cell adhesion moleculeC1D nuclear receptor corepressor
SynonymsCD146|MUC18LRP1|Rrp47|SUN-CoR|SUNCOR|hC1D
Cytomap

11q23.3

2p14

Type of geneprotein-codingprotein-coding
Descriptioncell surface glycoprotein MUC18GicerinS-endo 1 endothelial-associated antigencell surface glycoprotein P1H12melanoma adhesion moleculemelanoma-associated antigen A32melanoma-associated antigen MUC18nuclear nucleic acid-binding protein C1DC1D DNA-binding proteinC1D nuclear receptor co-repressornuclear DNA-binding proteinsmall unique nuclear receptor co-repressorsmall unique nuclear receptor corepressor
Modification date2018052220180519
UniProtAcc

P43121

Q13901

Ensembl transtripts involved in fusion geneENST00000264036, ENST00000392814, 
ENST00000530144, 
ENST00000355848, 
ENST00000407324, ENST00000410067, 
ENST00000409302, ENST00000470189, 
Fusion gene scores* DoF score5 X 5 X 1=254 X 3 X 3=36
# samples 54
** MAII scorelog2(5/25*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MCAM [Title/Abstract] AND C1D [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


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
ChiTaRS3.1N42327MCAMchr11

119179633

-C1Dchr2

68269926

-
* 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-3UTRENST00000264036ENST00000355848MCAMchr11

119179633

-C1Dchr2

68269926

-
intron-3UTRENST00000264036ENST00000407324MCAMchr11

119179633

-C1Dchr2

68269926

-
intron-3UTRENST00000264036ENST00000410067MCAMchr11

119179633

-C1Dchr2

68269926

-
intron-3UTRENST00000264036ENST00000409302MCAMchr11

119179633

-C1Dchr2

68269926

-
intron-intronENST00000264036ENST00000470189MCAMchr11

119179633

-C1Dchr2

68269926

-
intron-3UTRENST00000392814ENST00000355848MCAMchr11

119179633

-C1Dchr2

68269926

-
intron-3UTRENST00000392814ENST00000407324MCAMchr11

119179633

-C1Dchr2

68269926

-
intron-3UTRENST00000392814ENST00000410067MCAMchr11

119179633

-C1Dchr2

68269926

-
intron-3UTRENST00000392814ENST00000409302MCAMchr11

119179633

-C1Dchr2

68269926

-
intron-intronENST00000392814ENST00000470189MCAMchr11

119179633

-C1Dchr2

68269926

-
intron-3UTRENST00000530144ENST00000355848MCAMchr11

119179633

-C1Dchr2

68269926

-
intron-3UTRENST00000530144ENST00000407324MCAMchr11

119179633

-C1Dchr2

68269926

-
intron-3UTRENST00000530144ENST00000410067MCAMchr11

119179633

-C1Dchr2

68269926

-
intron-3UTRENST00000530144ENST00000409302MCAMchr11

119179633

-C1Dchr2

68269926

-
intron-intronENST00000530144ENST00000470189MCAMchr11

119179633

-C1Dchr2

68269926

-

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FusionProtFeatures for MCAM_C1D


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

P43121

C1D

Q13901

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}. Plays a role in the recruitment of the RNA exosomecomplex to pre-rRNA to mediate the 3'-5' end processing of the5.8S rRNA; this function may include MPHOSPH6. Can activate PRKDCnot only in the presence of linear DNA but also in the presence ofsupercoiled DNA. Can induce apoptosis in a p53/TP53 dependentmanner. May regulate the TRAX/TSN complex formation. Potentiatestranscriptional repression by NR1D1 and THRB (By similarity).{ECO:0000250, ECO:0000269|PubMed:10362552,ECO:0000269|PubMed:11801738, ECO:0000269|PubMed:17412707,ECO:0000269|PubMed:9679063}.

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_C1D


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_C1D


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_C1D


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_C1D


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
TgeneC1DC0001973Alcoholic Intoxication, Chronic1PSYGENET