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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:ABCC2-SMIM4 (FusionGDB2 ID:HG1244TG440957)

Fusion Gene Summary for ABCC2-SMIM4

check button Fusion gene summary
Fusion gene informationFusion gene name: ABCC2-SMIM4
Fusion gene ID: hg1244tg440957
HgeneTgene
Gene symbol

ABCC2

SMIM4

Gene ID

1244

440957

Gene nameATP binding cassette subfamily C member 2small integral membrane protein 4
SynonymsABC30|CMOAT|DJS|MRP2|cMRPC3orf78
Cytomap('ABCC2','ABCC2')('C3orf78','SMIM4')

10q24.2

3p21.1

Type of geneprotein-codingprotein-coding
Descriptioncanalicular multispecific organic anion transporter 1ATP-binding cassette, sub-family C (CFTR/MRP), member 2canalicular multidrug resistance proteinmultidrug resistance-associated protein 2small integral membrane protein 4UPF0640 protein C3orf78
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000370449, ENST00000370434, 
ENST00000496621, 
Fusion gene scores* DoF score3 X 3 X 2=183 X 4 X 3=36
# samples 33
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(3/36*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ABCC2 [Title/Abstract] AND SMIM4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointABCC2(101567986)-C3orf78(52574440), # samples:1
ABCC2(101569975)-SMIM4(52568819), # samples:1
ABCC2(101569975)-SMIM4(52574440), # 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


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
ChimerDB4LIHCTCGA-BC-A10T-01AABCC2chr10

101567986

-C3orf78chr3

52574440

+
ChimerDB4LIHCTCGA-BC-A10T-01AABCC2chr10

101569975

+SMIM4chr3

52568819

+
ChimerDB4LIHCTCGA-BC-A10T-01AABCC2chr10

101569975

+SMIM4chr3

52574440

+


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Fusion Gene ORF analysis for ABCC2-SMIM4

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-3UTRENST00000370449ENST00000307106ABCC2chr10

101569975

+SMIM4chr3

52574440

+
5CDS-3UTRENST00000370449ENST00000477703ABCC2chr10

101569975

+SMIM4chr3

52574440

+
5CDS-3UTRENST00000370449ENST00000482728ABCC2chr10

101569975

+SMIM4chr3

52568819

+
5CDS-3UTRENST00000370449ENST00000482728ABCC2chr10

101569975

+SMIM4chr3

52574440

+
5CDS-intronENST00000370449ENST00000307106ABCC2chr10

101569975

+SMIM4chr3

52568819

+
5CDS-intronENST00000370449ENST00000476842ABCC2chr10

101569975

+SMIM4chr3

52568819

+
5CDS-intronENST00000370449ENST00000476842ABCC2chr10

101569975

+SMIM4chr3

52574440

+
5CDS-intronENST00000370449ENST00000477703ABCC2chr10

101569975

+SMIM4chr3

52568819

+
intron-3UTRENST00000370434ENST00000307106ABCC2chr10

101569975

+SMIM4chr3

52574440

+
intron-3UTRENST00000370434ENST00000477703ABCC2chr10

101569975

+SMIM4chr3

52574440

+
intron-3UTRENST00000370434ENST00000482728ABCC2chr10

101569975

+SMIM4chr3

52568819

+
intron-3UTRENST00000370434ENST00000482728ABCC2chr10

101569975

+SMIM4chr3

52574440

+
intron-3UTRENST00000496621ENST00000307106ABCC2chr10

101569975

+SMIM4chr3

52574440

+
intron-3UTRENST00000496621ENST00000477703ABCC2chr10

101569975

+SMIM4chr3

52574440

+
intron-3UTRENST00000496621ENST00000482728ABCC2chr10

101569975

+SMIM4chr3

52568819

+
intron-3UTRENST00000496621ENST00000482728ABCC2chr10

101569975

+SMIM4chr3

52574440

+
intron-intronENST00000370434ENST00000307106ABCC2chr10

101569975

+SMIM4chr3

52568819

+
intron-intronENST00000370434ENST00000476842ABCC2chr10

101569975

+SMIM4chr3

52568819

+
intron-intronENST00000370434ENST00000476842ABCC2chr10

101569975

+SMIM4chr3

52574440

+
intron-intronENST00000370434ENST00000477703ABCC2chr10

101569975

+SMIM4chr3

52568819

+
intron-intronENST00000496621ENST00000307106ABCC2chr10

101569975

+SMIM4chr3

52568819

+
intron-intronENST00000496621ENST00000476842ABCC2chr10

101569975

+SMIM4chr3

52568819

+
intron-intronENST00000496621ENST00000476842ABCC2chr10

101569975

+SMIM4chr3

52574440

+
intron-intronENST00000496621ENST00000477703ABCC2chr10

101569975

+SMIM4chr3

52568819

+

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 ABCC2-SMIM4


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)
ABCC2chr10101569975+SMIM4chr352574439+0.97949670.020503262
ABCC2chr10101569975+SMIM4chr352574439+0.97949670.020503262


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.
genomic feature of top 1%

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Fusion Protein Features for ABCC2-SMIM4


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/:101567986/:52574440)
- 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
..
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: 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}.

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 ABCC2-SMIM4


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 ABCC2-SMIM4


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 ABCC2-SMIM4


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 ABCC2-SMIM4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneABCC2C0022350Jaundice, Chronic Idiopathic11CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneABCC2C0008370Cholestasis5CTD_human;GENOMICS_ENGLAND
HgeneABCC2C0013221Drug toxicity3CTD_human
HgeneABCC2C0041755Adverse reaction to drug3CTD_human
HgeneABCC2C0019193Hepatitis, Toxic2CTD_human
HgeneABCC2C0268318Cholestasis of pregnancy2GENOMICS_ENGLAND
HgeneABCC2C0860207Drug-Induced Liver Disease2CTD_human
HgeneABCC2C1262760Hepatitis, Drug-Induced2CTD_human
HgeneABCC2C3658290Drug-Induced Acute Liver Injury2CTD_human
HgeneABCC2C4277682Chemical and Drug Induced Liver Injury2CTD_human
HgeneABCC2C4279912Chemically-Induced Liver Toxicity2CTD_human
HgeneABCC2C0002170Alopecia1CTD_human
HgeneABCC2C0003873Rheumatoid Arthritis1CTD_human
HgeneABCC2C0008312Primary biliary cirrhosis1CTD_human
HgeneABCC2C0009402Colorectal Carcinoma1CTD_human
HgeneABCC2C0009404Colorectal Neoplasms1CTD_human
HgeneABCC2C0013182Drug Allergy1CTD_human
HgeneABCC2C0017178Gastrointestinal Diseases1CTD_human
HgeneABCC2C0018799Heart Diseases1CTD_human
HgeneABCC2C0020433Hyperbilirubinemia1CTD_human
HgeneABCC2C0022333Jacksonian Seizure1CTD_human
HgeneABCC2C0023892Biliary cirrhosis1CTD_human
HgeneABCC2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneABCC2C0027765nervous system disorder1CTD_human
HgeneABCC2C0036572Seizures1CTD_human
HgeneABCC2C0038220Status Epilepticus1CTD_human
HgeneABCC2C0086873Pseudopelade1CTD_human
HgeneABCC2C0149958Complex partial seizures1CTD_human
HgeneABCC2C0162311Androgenetic Alopecia1CTD_human
HgeneABCC2C0234533Generalized seizures1CTD_human
HgeneABCC2C0234535Clonic Seizures1CTD_human
HgeneABCC2C0238065Secondary Biliary Cholangitis1CTD_human
HgeneABCC2C0263477Female pattern alopecia (disorder)1CTD_human
HgeneABCC2C0270823Petit mal status1CTD_human
HgeneABCC2C0270824Visual seizure1CTD_human
HgeneABCC2C0270844Tonic Seizures1CTD_human
HgeneABCC2C0270846Epileptic drop attack1CTD_human
HgeneABCC2C0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneABCC2C0311335Grand Mal Status Epilepticus1CTD_human
HgeneABCC2C0393734Complex Partial Status Epilepticus1CTD_human
HgeneABCC2C0400966Non-alcoholic Fatty Liver Disease1CTD_human
HgeneABCC2C0422850Seizures, Somatosensory1CTD_human
HgeneABCC2C0422852Seizures, Auditory1CTD_human
HgeneABCC2C0422853Olfactory seizure1CTD_human
HgeneABCC2C0422854Gustatory seizure1CTD_human
HgeneABCC2C0422855Vertiginous seizure1CTD_human
HgeneABCC2C0494475Tonic - clonic seizures1CTD_human
HgeneABCC2C0559031Functional Gastrointestinal Disorders1CTD_human
HgeneABCC2C0751056Non-epileptic convulsion1CTD_human
HgeneABCC2C0751110Single Seizure1CTD_human
HgeneABCC2C0751123Atonic Absence Seizures1CTD_human
HgeneABCC2C0751494Convulsive Seizures1CTD_human
HgeneABCC2C0751495Seizures, Focal1CTD_human
HgeneABCC2C0751496Seizures, Sensory1CTD_human
HgeneABCC2C0751522Status Epilepticus, Subclinical1CTD_human
HgeneABCC2C0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneABCC2C0751524Simple Partial Status Epilepticus1CTD_human
HgeneABCC2C1168401Squamous cell carcinoma of the head and neck1CTD_human
HgeneABCC2C1565321Cholera Infantum1CTD_human
HgeneABCC2C3241937Nonalcoholic Steatohepatitis1CTD_human
HgeneABCC2C3495874Nonepileptic Seizures1CTD_human
HgeneABCC2C4048158Convulsions1CTD_human
HgeneABCC2C4083212Alopecia, Male Pattern1CTD_human
HgeneABCC2C4316903Absence Seizures1CTD_human
HgeneABCC2C4317109Epileptic Seizures1CTD_human
HgeneABCC2C4317123Myoclonic Seizures1CTD_human
HgeneABCC2C4505436Generalized Absence Seizures1CTD_human
HgeneABCC2C4551595Biliary Cirrhosis, Primary, 11CTD_human