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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:PDCD7-MCAM (FusionGDB2 ID:63626)

Fusion Gene Summary for PDCD7-MCAM

check button Fusion gene summary
Fusion gene informationFusion gene name: PDCD7-MCAM
Fusion gene ID: 63626
HgeneTgene
Gene symbol

PDCD7

MCAM

Gene ID

10081

4162

Gene nameprogrammed cell death 7melanoma cell adhesion molecule
SynonymsES18|HES18CD146|HEMCAM|METCAM|MUC18|MelCAM
Cytomap

15q22.31

11q23.3

Type of geneprotein-codingprotein-coding
Descriptionprogrammed cell death protein 7U11/U12 snRNP 59Kapoptosis-related protein ES18cell surface glycoprotein MUC18GicerinS-endo 1 endothelial-associated antigencell surface glycoprotein P1H12melanoma adhesion moleculemelanoma-associated antigen A32melanoma-associated antigen MUC18
Modification date2020031320200313
UniProtAcc.

P43121

Ensembl transtripts involved in fusion geneENST00000204549, ENST00000530144, 
ENST00000392814, ENST00000264036, 
Fusion gene scores* DoF score5 X 4 X 3=605 X 6 X 5=150
# samples 56
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PDCD7 [Title/Abstract] AND MCAM [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPDCD7(65421370)-MCAM(119183659), # samples:1
Anticipated loss of major functional domain due to fusion event.PDCD7-MCAM seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
PDCD7-MCAM seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
TgeneMCAM

GO:0001525

angiogenesis

23878390


check buttonFusion gene breakpoints across PDCD7 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across MCAM (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4STADTCGA-CD-8531-01APDCD7chr15

65421370

-MCAMchr11

119183659

-


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Fusion Gene ORF analysis for PDCD7-MCAM

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-intronENST00000204549ENST00000530144PDCD7chr15

65421370

-MCAMchr11

119183659

-
Frame-shiftENST00000204549ENST00000392814PDCD7chr15

65421370

-MCAMchr11

119183659

-
In-frameENST00000204549ENST00000264036PDCD7chr15

65421370

-MCAMchr11

119183659

-

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)
ENST00000204549PDCD7chr1565421370-ENST00000264036MCAMchr11119183659-38011064552445796

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
ENST00000204549ENST00000264036PDCD7chr1565421370-MCAMchr11119183659-0.0126791080.9873209

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Fusion Genomic Features for PDCD7-MCAM


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.
genomic feature

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 PDCD7-MCAM


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/chr15:65421370/chr11:119183659)
- 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
.MCAM

P43121

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.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}.

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
HgenePDCD7chr15:65421370chr11:119183659ENST00000204549-25232_335336486.0Coiled coilOntology_term=ECO:0000255
HgenePDCD7chr15:65421370chr11:119183659ENST00000204549-25236_278336486.0Compositional biasNote=Arg/Glu-rich
HgenePDCD7chr15:65421370chr11:119183659ENST00000204549-254_129336486.0Compositional biasNote=Pro-rich
TgeneMCAMchr15:65421370chr11:119183659ENST00000264036416244_330186647.0DomainNote=Ig-like C2-type 1
TgeneMCAMchr15:65421370chr11:119183659ENST00000264036416335_424186647.0DomainNote=Ig-like C2-type 2
TgeneMCAMchr15:65421370chr11:119183659ENST00000264036416430_510186647.0DomainNote=Ig-like C2-type 3
TgeneMCAMchr15:65421370chr11:119183659ENST00000392814011139_2420408.3333333333333DomainNote=Ig-like V-type 2
TgeneMCAMchr15:65421370chr11:119183659ENST00000392814011244_3300408.3333333333333DomainNote=Ig-like C2-type 1
TgeneMCAMchr15:65421370chr11:119183659ENST0000039281401124_1290408.3333333333333DomainNote=Ig-like V-type 1
TgeneMCAMchr15:65421370chr11:119183659ENST00000392814011335_4240408.3333333333333DomainNote=Ig-like C2-type 2
TgeneMCAMchr15:65421370chr11:119183659ENST00000392814011430_5100408.3333333333333DomainNote=Ig-like C2-type 3
TgeneMCAMchr15:65421370chr11:119183659ENST00000264036416584_646186647.0Topological domainCytoplasmic
TgeneMCAMchr15:65421370chr11:119183659ENST0000039281401124_5590408.3333333333333Topological domainExtracellular
TgeneMCAMchr15:65421370chr11:119183659ENST00000392814011584_6460408.3333333333333Topological domainCytoplasmic
TgeneMCAMchr15:65421370chr11:119183659ENST00000264036416560_583186647.0TransmembraneHelical
TgeneMCAMchr15:65421370chr11:119183659ENST00000392814011560_5830408.3333333333333TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePDCD7chr15:65421370chr11:119183659ENST00000204549-25362_411336486.0Coiled coilOntology_term=ECO:0000255
TgeneMCAMchr15:65421370chr11:119183659ENST00000264036416139_242186647.0DomainNote=Ig-like V-type 2
TgeneMCAMchr15:65421370chr11:119183659ENST0000026403641624_129186647.0DomainNote=Ig-like V-type 1
TgeneMCAMchr15:65421370chr11:119183659ENST0000026403641624_559186647.0Topological domainExtracellular


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Fusion Gene Sequence for PDCD7-MCAM


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.
>63626_63626_1_PDCD7-MCAM_PDCD7_chr15_65421370_ENST00000204549_MCAM_chr11_119183659_ENST00000264036_length(transcript)=3801nt_BP=1064nt
CTCATGAGGAGCCACTCAGATTCCTGTCACTTCTCAAAGCATCTCCGTCGTGAACATGGCCCTGCCACCATTCTTCGGCCAGGGTCGCCC
AGGCCCACCGCCCCCGCAGCCGCCGCCTCCTGCTCCTTTCGGCTGTCCGCCACCGCCGCTGCCCTCCCCGGCTTTCCCGCCGCCTCTCCC
CCAGCGGCCCGGCCCTTTTCCGGGGGCCTCCGCCCCCTTCCTTCAGCCTCCGCTGGCTCTGCAGCCCCGAGCCTCCGCGGAGGCCTCCCG
CGGCGGAGGCGGCGCTGGCGCCTTCTACCCGGTGCCACCACCGCCGCTGCCTCCTCCGCCGCCCCAGTGTCGGCCCTTCCCGGGGACCGA
CGCCGGCGAGCGGCCGCGGCCACCGCCTCCCGGCCCGGGGCCGCCCTGGAGCCCGCGGTGGCCTGAGGCGCCGCCGCCGCCGGCCGACGT
GCTCGGGGATGCGGCCCTCCAACGCCTGCGCGACCGGCAGTGGCTGGAGGCGGTGTTCGGGACCCCGCGGCGGGCAGGCTGTCCGGTGCC
CCAGCGCACGCATGCCGGGCCCAGCCTTGGCGAAGTGCGCGCGCGATTGCTCCGGGCTCTGCGCCTGGTGCGGCGGCTGCGCGGCCTGAG
CCAGGCCCTGCGCGAGGCCGAAGCCGACGGCGCGGCCTGGGTCCTGCTGTACTCCCAGACCGCGCCGCTGCGCGCGGAACTGGCCGAGCG
GCTACAGCCGTTGACCCAGGCTGCCTATGTGGGCGAGGCGCGGAGGAGGCTGGAGAGGGTCCGGCGCCGCCGGCTGCGGCTTCGCGAGAG
GGCCCGGGAACGCGAGGCCGAGCGGGAGGCAGAGGCCGCGCGGGCAGTGGAACGCGAGCAGGAGATTGACCGCTGGAGGGTGAAGTGTGT
GCAGGAGGTGGAGGAGAAGAAGCGGGAGCAGGAACTCAAAGCAGCCGCTGATGGCGTACTATCTGAAGTGAGGAAAAAACAAGCAGATAC
CAAAAGAATGGTGGACATTCTACGGGCTTTGGAGAAATTGAGGAAACTGAGGAAAGAGGCTGCAGCGAGGAAAGGGGTCCACATTCAGTC
GTCCCAGACTGTGGAGTCGAGTGGTTTGTACACCTTGCAGAGTATTCTGAAGGCACAGCTGGTTAAAGAAGACAAAGATGCCCAGTTTTA
CTGTGAGCTCAACTACCGGCTGCCCAGTGGGAACCACATGAAGGAGTCCAGGGAAGTCACCGTCCCTGTTTTCTACCCGACAGAAAAAGT
GTGGCTGGAAGTGGAGCCCGTGGGAATGCTGAAGGAAGGGGACCGCGTGGAAATCAGGTGTTTGGCTGATGGCAACCCTCCACCACACTT
CAGCATCAGCAAGCAGAACCCCAGCACCAGGGAGGCAGAGGAAGAGACAACCAACGACAACGGGGTCCTGGTGCTGGAGCCTGCCCGGAA
GGAACACAGTGGGCGCTATGAATGTCAGGGCCTGGACTTGGACACCATGATATCGCTGCTGAGTGAACCACAGGAACTACTGGTGAACTA
TGTGTCTGACGTCCGAGTGAGTCCCGCAGCCCCTGAGAGACAGGAAGGCAGCAGCCTCACCCTGACCTGTGAGGCAGAGAGTAGCCAGGA
CCTCGAGTTCCAGTGGCTGAGAGAAGAGACAGGCCAGGTGCTGGAAAGGGGGCCTGTGCTTCAGTTGCATGACCTGAAACGGGAGGCAGG
AGGCGGCTATCGCTGCGTGGCGTCTGTGCCCAGCATACCCGGCCTGAACCGCACACAGCTGGTCAACGTGGCCATTTTTGGCCCCCCTTG
GATGGCATTCAAGGAGAGGAAGGTGTGGGTGAAAGAGAATATGGTGTTGAATCTGTCTTGTGAAGCGTCAGGGCACCCCCGGCCCACCAT
CTCCTGGAACGTCAACGGCACGGCAAGTGAACAAGACCAAGATCCACAGCGAGTCCTGAGCACCCTGAATGTCCTCGTGACCCCGGAGCT
GTTGGAGACAGGTGTTGAATGCACGGCCTCCAACGACCTGGGCAAAAACACCAGCATCCTCTTCCTGGAGCTGGTCAATTTAACCACCCT
CACACCAGACTCCAACACAACCACTGGCCTCAGCACTTCCACTGCCAGTCCTCATACCAGAGCCAACAGCACCTCCACAGAGAGAAAGCT
GCCGGAGCCGGAGAGCCGGGGCGTGGTCATCGTGGCTGTGATTGTGTGCATCCTGGTCCTGGCGGTGCTGGGCGCTGTCCTCTATTTCCT
CTATAAGAAGGGCAAGCTGCCGTGCAGGCGCTCAGGGAAGCAGGAGATCACGCTACCCCCGTCTCGTAAGAGCGAACTTGTAGTTGAAGT
TAAGTCAGATAAGCTCCCAGAAGAGATGGGCCTCCTGCAGGGCAGCAGCGGTGACAAGAGGGCTCCGGGAGACCAGGGAGAGAAATACAT
CGATCTGAGGCATTAGCCCCGAATCACTTCAGCTCCCTTCCCTGCCTGGACCATTCCCAGCTCCCTGCTCACTCTTCTCTCAGCCAAAGC
CTCCAAAGGGACTAGAGAGAAGCCTCCTGCTCCCCTCGCCTGCACACCCCCTTTCAGAGGGCCACTGGGTTAGGACCTGAGGACCTCACT
TGGCCCTGCAAGGCCCGCTTTTCAGGGACCAGTCCACCACCATCTCCTCCACGTTGAGTGAAGCTCATCCCAAGCAAGGAGCCCCAGTCT
CCCGAGCGGGTAGGAGAGTTTCTTGCAGAACGTGTTTTTTCTTTACACACATTATGGCTGTAAATACCTGGCTCCTGCCAGCAGCTGAGC
TGGGTAGCCTCTCTGAGCTGGTTTCCTGCCCCAAAGGCTGGCTTCCACCATCCAGGTGCACCACTGAAGTGAGGACACACCGGAGCCAGG
CGCCTGCTCATGTTGAAGTGCGCTGTTCACACCCGCTCCGGAGAGCACCCCAGCAGCATCCAGAAGCAGCTGCAGTGTTGCTGCCACCAC
CCTCCTGTCTGCCTCTTCAAAGTCTCCTGTGACATTTTTTCTTTGGTCAGAAGCCAGGAACTGGTGTCATTCCTTAAAAGATACGTGCCG
GGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAAGTCAGGACGAGACCATCCTGGC
TAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAATTAGCTAGGCGTAGTGGTTGGCACCTATAGTCCCAGCTACTCGGAAG
GCTGAAGCAGGAGAATGGTATGAATCCAGGAGGTGGAGCTTGCAGTGAGCCGAGACCGTGCCACTGCACTCCAGCCTGGGCAACACAGCG
AGACTCCGTCTCGAGGAAAAAAAAAGAAAAGATACGTGCCTGCGGTGAGGAAGCTGGGCGCTGTTTTCGAGTTCAGGTGAATTAGCCTCA
ATCCCCCGTGTTCACTTGGCTCCCATAGCCCTCTTGATGGATCACGTAAAACTGAAAGGCAGCGGGGAGCAGACAAAGATGAGGTCTACA
CTGTCCTTCATGGGGATTAAAGCTATGGTTATATTAGCACCAAACTTCTACAAACCAAGCTCAGGGCCCCAACCCTAGAAGGGCCCAAAT
GAGAGAATGGTACTTAGGGATGGAAAACGGGCCTGGCTAGAGCTTCGGGTGTGTGTGTCTGTCTGTGTGTATGCATACATATGTGTGTAT
ATATGGTTTTGTCAGGTGTGTAAATTTGCAAATTGTTTCCTTTATATATGTATGTATATATATATATGAAAATATATATATATATGAAAA

>63626_63626_1_PDCD7-MCAM_PDCD7_chr15_65421370_ENST00000204549_MCAM_chr11_119183659_ENST00000264036_length(amino acids)=796AA_BP=13
MALPPFFGQGRPGPPPPQPPPPAPFGCPPPPLPSPAFPPPLPQRPGPFPGASAPFLQPPLALQPRASAEASRGGGGAGAFYPVPPPPLPP
PPPQCRPFPGTDAGERPRPPPPGPGPPWSPRWPEAPPPPADVLGDAALQRLRDRQWLEAVFGTPRRAGCPVPQRTHAGPSLGEVRARLLR
ALRLVRRLRGLSQALREAEADGAAWVLLYSQTAPLRAELAERLQPLTQAAYVGEARRRLERVRRRRLRLRERAREREAEREAEAARAVER
EQEIDRWRVKCVQEVEEKKREQELKAAADGVLSEVRKKQADTKRMVDILRALEKLRKLRKEAAARKGVHIQSSQTVESSGLYTLQSILKA
QLVKEDKDAQFYCELNYRLPSGNHMKESREVTVPVFYPTEKVWLEVEPVGMLKEGDRVEIRCLADGNPPPHFSISKQNPSTREAEEETTN
DNGVLVLEPARKEHSGRYECQGLDLDTMISLLSEPQELLVNYVSDVRVSPAAPERQEGSSLTLTCEAESSQDLEFQWLREETGQVLERGP
VLQLHDLKREAGGGYRCVASVPSIPGLNRTQLVNVAIFGPPWMAFKERKVWVKENMVLNLSCEASGHPRPTISWNVNGTASEQDQDPQRV
LSTLNVLVTPELLETGVECTASNDLGKNTSILFLELVNLTTLTPDSNTTTGLSTSTASPHTRANSTSTERKLPEPESRGVVIVAVIVCIL

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Fusion Gene PPI Analysis for PDCD7-MCAM


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 PDCD7-MCAM


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 PDCD7-MCAM


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