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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:ACTB-IGKC (FusionGDB2 ID:HG60TG3514)

Fusion Gene Summary for ACTB-IGKC

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTB-IGKC
Fusion gene ID: hg60tg3514
HgeneTgene
Gene symbol

ACTB

IGKC

Gene ID

60

3514

Gene nameactin beta
SynonymsBRWS1|PS1TP5BP1
Cytomap('ACTB')('IGKC')

7p22.1

Type of geneprotein-coding
Descriptionactin, cytoplasmic 1I(2)-actinPS1TP5-binding protein 1beta cytoskeletal actin
Modification date20200327
UniProtAcc

P60709

P01834

Ensembl transtripts involved in fusion geneENST00000331789, ENST00000464611, 
Fusion gene scores* DoF score68 X 54 X 18=66096160 X 66 X 20=211200
# samples 83149
** MAII scorelog2(83/66096*10)=-6.31530781862183
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(149/211200*10)=-7.14715369378365
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACTB [Title/Abstract] AND IGKC [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACTB(5568054)-IGKC(89160435), # 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
HgeneACTB

GO:0098974

postsynaptic actin cytoskeleton organization

18341992



check button Fusion gene information
* 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
ChimerDB4READTCGA-EI-6510ACTBchr7

5568054

-IGKCchr2

89160435

-


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Fusion Gene ORF analysis for ACTB-IGKC

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-intronENST00000331789ENST00000390237ACTBchr7

5568054

-IGKCchr2

89160435

-
intron-intronENST00000464611ENST00000390237ACTBchr7

5568054

-IGKCchr2

89160435

-

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 ACTB-IGKC


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)


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Fusion Protein Features for ACTB-IGKC


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/:5568054/:89160435)
- 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
ACTB

P60709

IGKC

P01834

FUNCTION: Actin is a highly conserved protein that polymerizes to produce filaments that form cross-linked networks in the cytoplasm of cells (PubMed:29581253). Actin exists in both monomeric (G-actin) and polymeric (F-actin) forms, both forms playing key functions, such as cell motility and contraction (PubMed:29581253). In addition to their role in the cytoplasmic cytoskeleton, G- and F-actin also localize in the nucleus, and regulate gene transcription and motility and repair of damaged DNA (PubMed:29925947). {ECO:0000269|PubMed:29581253, ECO:0000269|PubMed:29925947}.FUNCTION: Constant region of immunoglobulin light chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). {ECO:0000303|PubMed:17576170, ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}.

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 ACTB-IGKC


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 ACTB-IGKC


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 ACTB-IGKC


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 ACTB-IGKC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACTBC1855722Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneACTBC1846331Juvenile-onset dystonia2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneACTBC1853623Fryns-Aftimos Syndrome2GENOMICS_ENGLAND
HgeneACTBC2239176Liver carcinoma2CTD_human
HgeneACTBC0003129Anoxemia1CTD_human
HgeneACTBC0003130Anoxia1CTD_human
HgeneACTBC0005586Bipolar Disorder1PSYGENET
HgeneACTBC0005818Blood Platelet Disorders1GENOMICS_ENGLAND
HgeneACTBC0007097Carcinoma1CTD_human
HgeneACTBC0009363Congenital ocular coloboma (disorder)1CTD_human
HgeneACTBC0013393Dysostoses1CTD_human
HgeneACTBC0013421Dystonia1CTD_human
HgeneACTBC0014859Esophageal Neoplasms1CTD_human
HgeneACTBC0018784Sensorineural Hearing Loss (disorder)1CTD_human
HgeneACTBC0019193Hepatitis, Toxic1CTD_human
HgeneACTBC0024121Lung Neoplasms1CTD_human
HgeneACTBC0024667Animal Mammary Neoplasms1CTD_human
HgeneACTBC0024668Mammary Neoplasms, Experimental1CTD_human
HgeneACTBC0027626Neoplasm Invasiveness1CTD_human
HgeneACTBC0029408Degenerative polyarthritis1CTD_human
HgeneACTBC0036341Schizophrenia1PSYGENET
HgeneACTBC0086743Osteoarthrosis Deformans1CTD_human
HgeneACTBC0151744Myocardial Ischemia1CTD_human
HgeneACTBC0205696Anaplastic carcinoma1CTD_human
HgeneACTBC0205697Carcinoma, Spindle-Cell1CTD_human
HgeneACTBC0205698Undifferentiated carcinoma1CTD_human
HgeneACTBC0205699Carcinomatosis1CTD_human
HgeneACTBC0242184Hypoxia1CTD_human
HgeneACTBC0242379Malignant neoplasm of lung1CTD_human
HgeneACTBC0263579Pigmented hairy epidermal nevus1ORPHANET
HgeneACTBC0265541Cranioschisis1CTD_human
HgeneACTBC0272183Qualitative abnormality of granulocyte1GENOMICS_ENGLAND
HgeneACTBC0376634Craniofacial Abnormalities1CTD_human
HgeneACTBC0393588Dystonia, Paroxysmal1CTD_human
HgeneACTBC0393610Dystonia, Diurnal1CTD_human
HgeneACTBC0497552Congenital neurologic anomalies1CTD_human
HgeneACTBC0546837Malignant neoplasm of esophagus1CTD_human
HgeneACTBC0700292Hypoxemia1CTD_human
HgeneACTBC0751093Dystonia, Limb1CTD_human
HgeneACTBC0860207Drug-Induced Liver Disease1CTD_human
HgeneACTBC1257925Mammary Carcinoma, Animal1CTD_human
HgeneACTBC1262760Hepatitis, Drug-Induced1CTD_human
HgeneACTBC1691779Sensory hearing loss1CTD_human
HgeneACTBC1858042Becker Nevus Syndrome1ORPHANET
HgeneACTBC3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneACTBC4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneACTBC4279912Chemically-Induced Liver Toxicity1CTD_human
HgeneACTBC4554007Uveoretinal Coloboma1CTD_human
TgeneC3279824Kappa-Chain Deficiency2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0013374Dysgammaglobulinemia1CTD_human
TgeneC0019209Hepatomegaly1CTD_human
TgeneC0027121Myositis1CTD_human
TgeneC0158353Infectious Myositis1CTD_human
TgeneC0231221Asymptomatic1GENOMICS_ENGLAND
TgeneC0544796Myositis, Proliferative1CTD_human
TgeneC0751356Idiopathic Inflammatory Myopathies1CTD_human
TgeneC0751357Myositis, Focal1CTD_human