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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:ABCC3-SLC44A4 (FusionGDB2 ID:HG8714TG80736)

Fusion Gene Summary for ABCC3-SLC44A4

check button Fusion gene summary
Fusion gene informationFusion gene name: ABCC3-SLC44A4
Fusion gene ID: hg8714tg80736
HgeneTgene
Gene symbol

ABCC3

SLC44A4

Gene ID

8714

80736

Gene nameATP binding cassette subfamily C member 3solute carrier family 44 member 4
SynonymsABC31|EST90757|MLP2|MOAT-D|MRP3|cMOAT2C6orf29|CTL4|DFNA72|NG22|TPPT|hTPPT1
Cytomap('ABCC3')('SLC44A4')

17q21.33

6p21.33

Type of geneprotein-codingprotein-coding
Descriptioncanalicular multispecific organic anion transporter 2ATP-binding cassette sub-family C member 3ATP-binding cassette, sub-family C (CFTR/MRP), member 3canicular multispecific organic anion transportermulti-specific organic anion transporter Dmultidrugcholine transporter-like protein 4testicular tissue protein Li 48thiamine pyrophosphate transporterthiamine pyrophosphate transporter 1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000285238, ENST00000427699, 
ENST00000510891, ENST00000515707, 
Fusion gene scores* DoF score16 X 12 X 7=134414 X 32 X 11=4928
# samples 1827
** MAII scorelog2(18/1344*10)=-2.90046432644909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(27/4928*10)=-4.18997094364407
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ABCC3 [Title/Abstract] AND SLC44A4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointABCC3(48741472)-SLC44A4(31837414), # samples:1
Anticipated loss of major functional domain due to fusion event.ABCC3-SLC44A4 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ABCC3-SLC44A4 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ABCC3-SLC44A4 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ABCC3-SLC44A4 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
HgeneABCC3

GO:0042908

xenobiotic transport

18698235|19334674

TgeneSLC44A4

GO:0030974

thiamine pyrophosphate transmembrane transport

24379411



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
ChimerDB4Non-Cancer61NABCC3chr17

48741472

+SLC44A4chr6

31837414

-


Top

Fusion Gene ORF analysis for ABCC3-SLC44A4

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-intronENST00000285238ENST00000366281ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000383379ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000415517ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000417894ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000425238ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000442152ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000453831ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000463111ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000465707ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000469478ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000492911ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000495181ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000495620ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000497745ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000546461ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000547288ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000547493ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000547684ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000548188ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000549663ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000549677ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000550401ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000550821ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000551168ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000553121ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000285238ENST00000553147ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000366281ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000383379ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000415517ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000417894ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000425238ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000442152ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000453831ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000463111ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000465707ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000469478ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000492911ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000495181ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000495620ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000497745ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000546461ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000547288ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000547493ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000547684ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000548188ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000549663ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000549677ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000550401ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000550821ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000551168ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000553121ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
5CDS-intronENST00000427699ENST00000553147ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
Frame-shiftENST00000285238ENST00000229729ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
Frame-shiftENST00000285238ENST00000375562ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
Frame-shiftENST00000285238ENST00000544672ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
Frame-shiftENST00000427699ENST00000229729ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
Frame-shiftENST00000427699ENST00000375562ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
Frame-shiftENST00000427699ENST00000544672ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-3CDSENST00000510891ENST00000229729ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-3CDSENST00000510891ENST00000375562ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-3CDSENST00000510891ENST00000544672ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-3CDSENST00000515707ENST00000229729ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-3CDSENST00000515707ENST00000375562ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-3CDSENST00000515707ENST00000544672ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000366281ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000383379ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000415517ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000417894ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000425238ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000442152ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000453831ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000463111ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000465707ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000469478ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000492911ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000495181ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000495620ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000497745ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000546461ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000547288ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000547493ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000547684ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000548188ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000549663ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000549677ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000550401ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000550821ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000551168ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000553121ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000510891ENST00000553147ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000366281ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000383379ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000415517ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000417894ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000425238ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000442152ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000453831ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000463111ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000465707ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000469478ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000492911ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000495181ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000495620ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000497745ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000546461ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000547288ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000547493ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000547684ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000548188ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000549663ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000549677ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000550401ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000550821ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000551168ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000553121ABCC3chr17

48741472

+SLC44A4chr6

31837414

-
intron-intronENST00000515707ENST00000553147ABCC3chr17

48741472

+SLC44A4chr6

31837414

-

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 ABCC3-SLC44A4


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)


Top

Fusion Protein Features for ABCC3-SLC44A4


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/:48741472/:31837414)
- 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 ABCC3-SLC44A4


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 ABCC3-SLC44A4


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 ABCC3-SLC44A4


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 ABCC3-SLC44A4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneABCC3C0003873Rheumatoid Arthritis1CTD_human
HgeneABCC3C0008370Cholestasis1CTD_human
HgeneABCC3C0009402Colorectal Carcinoma1CTD_human
HgeneABCC3C0009404Colorectal Neoplasms1CTD_human
HgeneABCC3C0019209Hepatomegaly1CTD_human
TgeneC3711374Nonsyndromic Deafness1CLINGEN
TgeneC4539886DEAFNESS, AUTOSOMAL DOMINANT 721UNIPROT