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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:C4B-TPM2 (FusionGDB2 ID:11822)

Fusion Gene Summary for C4B-TPM2

check button Fusion gene summary
Fusion gene informationFusion gene name: C4B-TPM2
Fusion gene ID: 11822
HgeneTgene
Gene symbol

C4B

TPM2

Gene ID

721

7169

Gene namecomplement C4B (Chido blood group)tropomyosin 2
SynonymsC4B1|C4B12|C4B2|C4B3|C4B5|C4BD|C4B_2|C4F|CH|CO4|CPAMD3AMCD1|DA1|DA2B|DA2B4|HEL-S-273|NEM4|TMSB
Cytomap

6p21.33

9p13.3

Type of geneprotein-codingprotein-coding
Descriptioncomplement C4-BC3 and PZP-like alpha-2-macroglobulin domain-containing protein 3Chido form of C4basic complement C4complement C4B1acomplement component 4B (Chido blood group)tropomyosin beta chainepididymis secretory protein Li 273nemaline myopathy type 4tropomyosin 2 (beta)
Modification date2020031320200328
UniProtAcc

P0C0L5

.
Ensembl transtripts involved in fusion geneENST00000435363, ENST00000425700, 
ENST00000485543, ENST00000411583, 
ENST00000548530, ENST00000550398, 
ENST00000487226, ENST00000449788, 
ENST00000546399, ENST00000494210, 
ENST00000445788, ENST00000375177, 
ENST00000548301, ENST00000488817, 
ENST00000378300, ENST00000378292, 
ENST00000329305, ENST00000360958, 
Fusion gene scores* DoF score9 X 7 X 6=37817 X 13 X 5=1105
# samples 817
** MAII scorelog2(8/378*10)=-2.24031432933371
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(17/1105*10)=-2.70043971814109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C4B [Title/Abstract] AND TPM2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC4B(32002108)-TPM2(35684312), # samples:1
Anticipated loss of major functional domain due to fusion event.C4B-TPM2 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneC4B

GO:0032490

detection of molecule of bacterial origin

22333221

TgeneTPM2

GO:0043462

regulation of ATPase activity

17194691


check buttonFusion gene breakpoints across C4B (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 TPM2 (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
ChimerDB4STADTCGA-BR-A4J9-01AC4Bchr6

32002108

+TPM2chr9

35684312

-


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Fusion Gene ORF analysis for C4B-TPM2

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
Frame-shiftENST00000435363ENST00000378300C4Bchr6

32002108

+TPM2chr9

35684312

-
Frame-shiftENST00000435363ENST00000378292C4Bchr6

32002108

+TPM2chr9

35684312

-
Frame-shiftENST00000435363ENST00000329305C4Bchr6

32002108

+TPM2chr9

35684312

-
Frame-shiftENST00000435363ENST00000360958C4Bchr6

32002108

+TPM2chr9

35684312

-
Frame-shiftENST00000425700ENST00000378300C4Bchr6

32002108

+TPM2chr9

35684312

-
Frame-shiftENST00000425700ENST00000378292C4Bchr6

32002108

+TPM2chr9

35684312

-
Frame-shiftENST00000425700ENST00000329305C4Bchr6

32002108

+TPM2chr9

35684312

-
Frame-shiftENST00000425700ENST00000360958C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000485543ENST00000378300C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000485543ENST00000378292C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000485543ENST00000329305C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000485543ENST00000360958C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000411583ENST00000378300C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000411583ENST00000378292C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000411583ENST00000329305C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000411583ENST00000360958C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000548530ENST00000378300C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000548530ENST00000378292C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000548530ENST00000329305C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000548530ENST00000360958C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000550398ENST00000378300C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000550398ENST00000378292C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000550398ENST00000329305C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000550398ENST00000360958C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000487226ENST00000378300C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000487226ENST00000378292C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000487226ENST00000329305C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000487226ENST00000360958C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000449788ENST00000378300C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000449788ENST00000378292C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000449788ENST00000329305C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000449788ENST00000360958C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000546399ENST00000378300C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000546399ENST00000378292C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000546399ENST00000329305C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000546399ENST00000360958C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000494210ENST00000378300C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000494210ENST00000378292C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000494210ENST00000329305C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000494210ENST00000360958C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000445788ENST00000378300C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000445788ENST00000378292C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000445788ENST00000329305C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000445788ENST00000360958C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000375177ENST00000378300C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000375177ENST00000378292C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000375177ENST00000329305C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000375177ENST00000360958C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000548301ENST00000378300C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000548301ENST00000378292C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000548301ENST00000329305C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000548301ENST00000360958C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000488817ENST00000378300C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000488817ENST00000378292C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000488817ENST00000329305C4Bchr6

32002108

+TPM2chr9

35684312

-
intron-3CDSENST00000488817ENST00000360958C4Bchr6

32002108

+TPM2chr9

35684312

-

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 C4B-TPM2


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 C4B-TPM2


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
C4B

P0C0L5

.
FUNCTION: Non-enzymatic component of the C3 and C5 convertases and thus essential for the propagation of the classical complement pathway. Covalently binds to immunoglobulins and immune complexes and enhances the solubilization of immune aggregates and the clearance of IC through CR1 on erythrocytes. C4A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while C4B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens.; FUNCTION: Derived from proteolytic degradation of complement C4, C4a anaphylatoxin is a mediator of local inflammatory process. It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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 C4B-TPM2


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 C4B-TPM2


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 C4B-TPM2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneC4BP0C0L5DB14548Zinc sulfate, unspecified formModulatorSmall moleculeApproved|Experimental
HgeneC4BP0C0L5DB14548Zinc sulfate, unspecified formModulatorSmall moleculeApproved|Experimental
HgeneC4BP0C0L5DB14548Zinc sulfate, unspecified formModulatorSmall moleculeApproved|Experimental
HgeneC4BP0C0L5DB14548Zinc sulfate, unspecified formModulatorSmall moleculeApproved|Experimental
HgeneC4BP0C0L5DB00028Human immunoglobulin GBinderBiotechApproved|Investigational
HgeneC4BP0C0L5DB00028Human immunoglobulin GBinderBiotechApproved|Investigational
HgeneC4BP0C0L5DB00028Human immunoglobulin GBinderBiotechApproved|Investigational
HgeneC4BP0C0L5DB00028Human immunoglobulin GBinderBiotechApproved|Investigational
HgeneC4BP0C0L5DB01593ZincSmall moleculeApproved|Investigational
HgeneC4BP0C0L5DB01593ZincSmall moleculeApproved|Investigational
HgeneC4BP0C0L5DB01593ZincSmall moleculeApproved|Investigational
HgeneC4BP0C0L5DB01593ZincSmall moleculeApproved|Investigational
HgeneC4BP0C0L5DB09130CopperSmall moleculeApproved|Investigational
HgeneC4BP0C0L5DB09130CopperSmall moleculeApproved|Investigational
HgeneC4BP0C0L5DB09130CopperSmall moleculeApproved|Investigational
HgeneC4BP0C0L5DB09130CopperSmall moleculeApproved|Investigational
HgeneC4BP0C0L5DB14487Zinc acetateSmall moleculeApproved|Investigational
HgeneC4BP0C0L5DB14487Zinc acetateSmall moleculeApproved|Investigational
HgeneC4BP0C0L5DB14487Zinc acetateSmall moleculeApproved|Investigational
HgeneC4BP0C0L5DB14487Zinc acetateSmall moleculeApproved|Investigational
HgeneC4BP0C0L5DB14533Zinc chlorideModulatorSmall moleculeApproved|Investigational
HgeneC4BP0C0L5DB14533Zinc chlorideModulatorSmall moleculeApproved|Investigational
HgeneC4BP0C0L5DB14533Zinc chlorideModulatorSmall moleculeApproved|Investigational
HgeneC4BP0C0L5DB14533Zinc chlorideModulatorSmall moleculeApproved|Investigational

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Related Diseases for C4B-TPM2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneC4BC0024141Lupus Erythematosus, Systemic7ORPHANET
HgeneC4BC0004352Autistic Disorder2CTD_human
HgeneC4BC0004364Autoimmune Diseases1CTD_human
HgeneC4BC0011609Drug Eruptions1CTD_human
HgeneC4BC0272242Complement deficiency disease1GENOMICS_ENGLAND
HgeneC4BC0406537Morbilliform Drug Reaction1CTD_human
HgeneC4BC3280641Decreased serum complement C4b1CTD_human;GENOMICS_ENGLAND
TgeneTPM2C0220662ARTHROGRYPOSIS, DISTAL, TYPE 17CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneTPM2C1836447Nemaline myopathy 47CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneTPM2C1834523ARTHROGRYPOSIS, DISTAL, TYPE 2B3GENOMICS_ENGLAND;ORPHANET
TgeneTPM2C0546125Nemaline Myopathy, Childhood Onset2ORPHANET
TgeneTPM2C0003886Arthrogryposis1GENOMICS_ENGLAND
TgeneTPM2C0206157Myopathies, Nemaline1GENOMICS_ENGLAND
TgeneTPM2C0265213Distal arthrogryposis syndrome1GENOMICS_ENGLAND
TgeneTPM2C0265261Multiple pterygium syndrome1GENOMICS_ENGLAND
TgeneTPM2C0270960Congenital myopathy (disorder)1GENOMICS_ENGLAND
TgeneTPM2C0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneTPM2C0546264Congenital Fiber Type Disproportion1CTD_human;ORPHANET
TgeneTPM2C1852085Digitotalar Dysmorphism1ORPHANET
TgeneTPM2C3710589Cap Myopathy1ORPHANET