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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:CAPZA2-ABCB1 (FusionGDB2 ID:13021)

Fusion Gene Summary for CAPZA2-ABCB1

check button Fusion gene summary
Fusion gene informationFusion gene name: CAPZA2-ABCB1
Fusion gene ID: 13021
HgeneTgene
Gene symbol

CAPZA2

ABCB1

Gene ID

830

5243

Gene namecapping actin protein of muscle Z-line subunit alpha 2ATP binding cassette subfamily B member 1
SynonymsCAPPA2|CAPZABC20|CD243|CLCS|GP170|MDR1|P-GP|PGY1
Cytomap

7q31.2

7q21.12

Type of geneprotein-codingprotein-coding
DescriptionF-actin-capping protein subunit alpha-2F-actin capping protein alpha-2 subunitcapZ alpha-2capping actin protein of muscle Z-line alpha subunit 2capping protein (actin filament) muscle Z-line, alpha 2epididymis secretory sperm binding proteinATP-dependent translocase ABCB1ATP-binding cassette, sub-family B (MDR/TAP), member 1P glycoproteinP-glycoprotein 1colchicin sensitivitydoxorubicin resistancemultidrug resistance protein 1phospholipid transporter ABCB1
Modification date2020031320200329
UniProtAcc.

O95342

Ensembl transtripts involved in fusion geneENST00000361183, ENST00000458284, 
ENST00000490693, ENST00000466023, 
ENST00000265724, ENST00000543898, 
ENST00000488737, 
Fusion gene scores* DoF score17 X 6 X 9=9184 X 4 X 3=48
# samples 206
** MAII scorelog2(20/918*10)=-2.19849415363908
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/48*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CAPZA2 [Title/Abstract] AND ABCB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCAPZA2(116451156)-ABCB1(87168661), # samples:2
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
TgeneABCB1

GO:0000086

G2/M transition of mitotic cell cycle

19384922

TgeneABCB1

GO:0045332

phospholipid translocation

8898203

TgeneABCB1

GO:0070633

transepithelial transport

28757552

TgeneABCB1

GO:0099040

ceramide translocation

8898203

TgeneABCB1

GO:0140115

export across plasma membrane

28587984


check buttonFusion gene breakpoints across CAPZA2 (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 ABCB1 (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
ChimerDB4LIHCTCGA-DD-A73F-01ACAPZA2chr7

116451156

+ABCB1chr7

87168661

-
ChimerDB4LIHCTCGA-DD-A73F-01ACAPZA2chr7

116451156

-ABCB1chr7

87168661

-


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Fusion Gene ORF analysis for CAPZA2-ABCB1

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-3CDSENST00000361183ENST00000265724CAPZA2chr7

116451156

+ABCB1chr7

87168661

-
intron-3CDSENST00000361183ENST00000543898CAPZA2chr7

116451156

+ABCB1chr7

87168661

-
intron-intronENST00000361183ENST00000488737CAPZA2chr7

116451156

+ABCB1chr7

87168661

-
intron-3CDSENST00000458284ENST00000265724CAPZA2chr7

116451156

+ABCB1chr7

87168661

-
intron-3CDSENST00000458284ENST00000543898CAPZA2chr7

116451156

+ABCB1chr7

87168661

-
intron-intronENST00000458284ENST00000488737CAPZA2chr7

116451156

+ABCB1chr7

87168661

-
intron-3CDSENST00000490693ENST00000265724CAPZA2chr7

116451156

+ABCB1chr7

87168661

-
intron-3CDSENST00000490693ENST00000543898CAPZA2chr7

116451156

+ABCB1chr7

87168661

-
intron-intronENST00000490693ENST00000488737CAPZA2chr7

116451156

+ABCB1chr7

87168661

-
intron-3CDSENST00000466023ENST00000265724CAPZA2chr7

116451156

+ABCB1chr7

87168661

-
intron-3CDSENST00000466023ENST00000543898CAPZA2chr7

116451156

+ABCB1chr7

87168661

-
intron-intronENST00000466023ENST00000488737CAPZA2chr7

116451156

+ABCB1chr7

87168661

-

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 CAPZA2-ABCB1


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 CAPZA2-ABCB1


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
.ABCB1

O95342

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.FUNCTION: Catalyzes the transport of the major hydrophobic bile salts, such as taurine and glycine-conjugated cholic acid across the canalicular membrane of hepatocytes in an ATP-dependent manner, therefore participates to hepatic bile acids homeostasis and consequently to lipid homeostasis through regulation of biliary lipid secretion in a bile salts dependent manner (PubMed:16332456, PubMed:22262466, PubMed:15791618, PubMed:18985798, PubMed:19228692, PubMed:20398791, PubMed:24711118, PubMed:29507376, PubMed:20010382, PubMed:32203132). Transports taurine-conjugated bile salts more rapidly than glycine-conjugated bile salts (PubMed:16332456). Also transports non-bile acid compounds, such as pravastatin and fexofenadine in an ATP-dependent manner and may be involved in their biliary excretion (PubMed:15901796, PubMed:18245269). {ECO:0000269|PubMed:15791618, ECO:0000269|PubMed:15901796, ECO:0000269|PubMed:16332456, ECO:0000269|PubMed:18245269, ECO:0000269|PubMed:18985798, ECO:0000269|PubMed:19228692, ECO:0000269|PubMed:20010382, ECO:0000269|PubMed:20398791, ECO:0000269|PubMed:22262466, ECO:0000269|PubMed:24711118, ECO:0000269|PubMed:29507376, ECO:0000269|PubMed:32203132}.

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 CAPZA2-ABCB1


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 CAPZA2-ABCB1


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 CAPZA2-ABCB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneABCB1O95342DB01016GlyburideInhibitorSmall moleculeApproved
TgeneABCB1O95342DB01016GlyburideInhibitorSmall moleculeApproved

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Related Diseases for CAPZA2-ABCB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneABCB1C0011570Mental Depression5PSYGENET
TgeneABCB1C0011581Depressive disorder5PSYGENET
TgeneABCB1C0041696Unipolar Depression5PSYGENET
TgeneABCB1C1269683Major Depressive Disorder5PSYGENET
TgeneABCB1C0013221Drug toxicity4CTD_human
TgeneABCB1C0036341Schizophrenia4PSYGENET
TgeneABCB1C0041755Adverse reaction to drug4CTD_human
TgeneABCB1C0003873Rheumatoid Arthritis2CTD_human
TgeneABCB1C0009402Colorectal Carcinoma2CTD_human;UNIPROT
TgeneABCB1C0009404Colorectal Neoplasms2CTD_human
TgeneABCB1C0014544Epilepsy2CTD_human
TgeneABCB1C0027765nervous system disorder2CTD_human
TgeneABCB1C0027947Neutropenia2CTD_human
TgeneABCB1C0086237Epilepsy, Cryptogenic2CTD_human
TgeneABCB1C0236018Aura2CTD_human
TgeneABCB1C0751111Awakening Epilepsy2CTD_human
TgeneABCB1C0003865Arthritis, Adjuvant-Induced1CTD_human
TgeneABCB1C0004930Behavior Disorders1CTD_human
TgeneABCB1C0004936Mental disorders1CTD_human
TgeneABCB1C0006142Malignant neoplasm of breast1CTD_human
TgeneABCB1C0006826Malignant Neoplasms1CTD_human
TgeneABCB1C0006868Cannabis Abuse1CTD_human
TgeneABCB1C0006870Cannabis Dependence1CTD_human
TgeneABCB1C0007097Carcinoma1CTD_human
TgeneABCB1C0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneABCB1C0014836Escherichia coli Infections1CTD_human
TgeneABCB1C0014859Esophageal Neoplasms1CTD_human
TgeneABCB1C0018614Hashish Abuse1CTD_human
TgeneABCB1C0018798Congenital Heart Defects1CTD_human
TgeneABCB1C0019193Hepatitis, Toxic1CTD_human
TgeneABCB1C0020651Hypotension, Orthostatic1CTD_human
TgeneABCB1C0022665Kidney Neoplasm1CTD_human
TgeneABCB1C0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
TgeneABCB1C0023453L2 Acute Lymphoblastic Leukemia1CTD_human
TgeneABCB1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneABCB1C0024809Marijuana Abuse1CTD_human
TgeneABCB1C0027497Nausea1CTD_human
TgeneABCB1C0027627Neoplasm Metastasis1CTD_human
TgeneABCB1C0027651Neoplasms1CTD_human
TgeneABCB1C0027819Neuroblastoma1CTD_human
TgeneABCB1C0030201Pain, Postoperative1CTD_human
TgeneABCB1C0030567Parkinson Disease1CTD_human
TgeneABCB1C0030569Secondary Parkinson Disease1CTD_human
TgeneABCB1C0033975Psychotic Disorders1PSYGENET
TgeneABCB1C0040715Chromosomal translocation1CTD_human
TgeneABCB1C0042963Vomiting1CTD_human
TgeneABCB1C0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgeneABCB1C0086692Benign Neoplasm1CTD_human
TgeneABCB1C0149504Encephalopathy, Toxic1CTD_human
TgeneABCB1C0154659Toxic Encephalitis1CTD_human
TgeneABCB1C0205696Anaplastic carcinoma1CTD_human
TgeneABCB1C0205697Carcinoma, Spindle-Cell1CTD_human
TgeneABCB1C0205698Undifferentiated carcinoma1CTD_human
TgeneABCB1C0205699Carcinomatosis1CTD_human
TgeneABCB1C0206686Adrenocortical carcinoma1CTD_human
TgeneABCB1C0235032Neurotoxicity Syndromes1CTD_human
TgeneABCB1C0235874Disease Exacerbation1CTD_human
TgeneABCB1C0236735Cannabis-Related Disorder1CTD_human
TgeneABCB1C0376338Diagnosis, Psychiatric1CTD_human
TgeneABCB1C0376544Hematopoietic Neoplasms1CTD_human
TgeneABCB1C0376545Hematologic Neoplasms1CTD_human
TgeneABCB1C0546837Malignant neoplasm of esophagus1CTD_human
TgeneABCB1C0678222Breast Carcinoma1CTD_human
TgeneABCB1C0740457Malignant neoplasm of kidney1CTD_human
TgeneABCB1C0751414Parkinson Disease, Secondary Vascular1CTD_human
TgeneABCB1C0751415Atherosclerotic Parkinsonism1CTD_human
TgeneABCB1C0860207Drug-Induced Liver Disease1CTD_human
TgeneABCB1C0971858Arthritis, Collagen-Induced1CTD_human
TgeneABCB1C0993582Arthritis, Experimental1CTD_human
TgeneABCB1C1168401Squamous cell carcinoma of the head and neck1CTD_human
TgeneABCB1C1257931Mammary Neoplasms, Human1CTD_human
TgeneABCB1C1262760Hepatitis, Drug-Induced1CTD_human
TgeneABCB1C1458155Mammary Neoplasms1CTD_human
TgeneABCB1C1861502COLCHICINE RESISTANCE1ORPHANET
TgeneABCB1C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
TgeneABCB1C2239176Liver carcinoma1CTD_human
TgeneABCB1C3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneABCB1C4046029Mental Disorders, Severe1CTD_human
TgeneABCB1C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneABCB1C4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneABCB1C4704874Mammary Carcinoma, Human1CTD_human
TgeneABCB1C4721453Peripheral Nervous System Diseases1CTD_human