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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:CARKD-ABCC4

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CARKD-ABCC4
FusionPDB ID: 13048
FusionGDB2.0 ID: 13048
HgeneTgene
Gene symbol

CARKD

ABCC4

Gene ID

55739

10257

Gene nameNAD(P)HX dehydrataseATP binding cassette subfamily C member 4
SynonymsCARKD|LP3298|PEBEL2MOAT-B|MOATB|MRP4
Cytomap

13q34

13q32.1

Type of geneprotein-codingprotein-coding
DescriptionATP-dependent (S)-NAD(P)H-hydrate dehydrataseATP-dependent NAD(P)H-hydrate dehydrataseATP-dependent NAD(P)HX dehydratasecarbohydrate kinase domain containingcarbohydrate kinase domain-containing proteinmultidrug resistance-associated protein 4MRP/cMOAT-related ABC transporterbA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)canalicular multispecific organic anion transporter (ABC superfamily)multi-specific organic anion transporter
Modification date2020031320200313
UniProtAcc.

O15439

Ensembl transtripts involved in fusion geneENST idsENST00000470164, ENST00000397191, 
ENST00000424185, ENST00000458711, 
ENST00000309957, 
ENST00000376887, 
ENST00000412704, ENST00000431522, 
ENST00000536256, ENST00000474158, 
ENST00000538287, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 1 X 2=820 X 18 X 5=1800
# samples 421
** MAII scorelog2(4/8*10)=2.32192809488736log2(21/1800*10)=-3.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: CARKD [Title/Abstract] AND ABCC4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CARKD(111267994)-ABCC4(95768255), # samples:1
Anticipated loss of major functional domain due to fusion event.CARKD-ABCC4 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CARKD-ABCC4 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CARKD-ABCC4 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
CARKD-ABCC4 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
CARKD-ABCC4 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
TgeneABCC4

GO:0032310

prostaglandin secretion

25173977


check buttonFusion gene breakpoints across CARKD (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across ABCC4 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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-CD-8525-01ACARKDchr13

111267994

+ABCC4chr13

95768255

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000397191CARKDchr13111267994+ENST00000412704ABCC4chr1395768255-333364181586522
ENST00000397191CARKDchr13111267994+ENST00000376887ABCC4chr1395768255-333164181586522
ENST00000397191CARKDchr13111267994+ENST00000536256ABCC4chr1395768255-5556414634967
ENST00000397191CARKDchr13111267994+ENST00000431522ABCC4chr1395768255-5536414634967

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
ENST00000397191ENST00000412704CARKDchr13111267994+ABCC4chr1395768255-0.0002710910.99972886
ENST00000397191ENST00000376887CARKDchr13111267994+ABCC4chr1395768255-0.0002669680.99973303
ENST00000397191ENST00000536256CARKDchr13111267994+ABCC4chr1395768255-0.616327640.38367236
ENST00000397191ENST00000431522CARKDchr13111267994+ABCC4chr1395768255-0.63400310.36599684

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>13048_13048_1_CARKD-ABCC4_CARKD_chr13_111267994_ENST00000397191_ABCC4_chr13_95768255_ENST00000376887_length(amino acids)=522AA_BP=15
MALGPRCGAIRACRRGRILNRFSKDIGHLDDLLPLTFLDFIQTLLQVVGVVSVAVAVIPWIAIPLVPLGIIFIFLRRYFLETSRDVKRLE
STTRSPVFSHLSSSLQGLWTIRAYKAEERCQELFDAHQDLHSEAWFLFLTTSRWFAVRLDAICAMFVIIVAFGSLILAKTLDAGQVGLAL
SYALTLMGMFQWCVRQSAEVENMMISVERVIEYTDLEKEAPWEYQKRPPPAWPHEGVIIFDNVNFMYSPGGPLVLKHLTALIKSQEKVGI
VGRTGAGKSSLISALFRLSEPEGKIWIDKILTTEIGLHDLRKKMSIIPQEPVLFTGTMRKNLDPFNEHTDEELWNALQEVQLKETIEDLP
GKMDTELAESGSNFSVGQRQLVCLARAILRKNQILIIDEATANVDPRTDELIQKKIREKFAHCTVLTIAHRLNTIIDSDKIMVLDSGRLK

--------------------------------------------------------------

>13048_13048_2_CARKD-ABCC4_CARKD_chr13_111267994_ENST00000397191_ABCC4_chr13_95768255_ENST00000412704_length(amino acids)=522AA_BP=15
MALGPRCGAIRACRRGRILNRFSKDIGHLDDLLPLTFLDFIQTLLQVVGVVSVAVAVIPWIAIPLVPLGIIFIFLRRYFLETSRDVKRLE
STTRSPVFSHLSSSLQGLWTIRAYKAEERCQELFDAHQDLHSEAWFLFLTTSRWFAVRLDAICAMFVIIVAFGSLILAKTLDAGQVGLAL
SYALTLMGMFQWCVRQSAEVENMMISVERVIEYTDLEKEAPWEYQKRPPPAWPHEGVIIFDNVNFMYSPGGPLVLKHLTALIKSQEKVGI
VGRTGAGKSSLISALFRLSEPEGKIWIDKILTTEIGLHDLRKKMSIIPQEPVLFTGTMRKNLDPFNEHTDEELWNALQEVQLKETIEDLP
GKMDTELAESGSNFSVGQRQLVCLARAILRKNQILIIDEATANVDPRTDELIQKKIREKFAHCTVLTIAHRLNTIIDSDKIMVLDSGRLK

--------------------------------------------------------------

>13048_13048_3_CARKD-ABCC4_CARKD_chr13_111267994_ENST00000397191_ABCC4_chr13_95768255_ENST00000431522_length(amino acids)=67AA_BP=

--------------------------------------------------------------

>13048_13048_4_CARKD-ABCC4_CARKD_chr13_111267994_ENST00000397191_ABCC4_chr13_95768255_ENST00000536256_length(amino acids)=67AA_BP=

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr13:111267994/chr13:95768255)
- 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
.ABCC4

O15439

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: ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes physiological compounds and xenobiotics from cells. Transports a range of endogenous molecules that have a key role in cellular communication and signaling, including cyclic nucleotides such as cyclic AMP (cAMP) and cyclic GMP (cGMP), bile acids, steroid conjugates, urate, and prostaglandins (PubMed:11856762, PubMed:12883481, PubMed:12523936, PubMed:12835412, PubMed:15364914, PubMed:15454390, PubMed:16282361, PubMed:17959747, PubMed:18300232, PubMed:26721430). Mediates the ATP-dependent efflux of glutathione conjugates such as leukotriene C4 (LTC4) and leukotriene B4 (LTB4) too. The presence of GSH is necessary for the ATP-dependent transport of LTB4, whereas GSH is not required for the transport of LTC4 (PubMed:17959747). Mediates the cotransport of bile acids with reduced glutathione (GSH) (PubMed:12883481, PubMed:12523936, PubMed:16282361). Transports a wide range of drugs and their metabolites, including anticancer, antiviral and antibiotics molecules (PubMed:11856762, PubMed:12105214, PubMed:15454390, PubMed:18300232, PubMed:17344354). Confers resistance to anticancer agents such as methotrexate (PubMed:11106685). {ECO:0000269|PubMed:11106685, ECO:0000269|PubMed:11856762, ECO:0000269|PubMed:12105214, ECO:0000269|PubMed:12523936, ECO:0000269|PubMed:12835412, ECO:0000269|PubMed:12883481, ECO:0000269|PubMed:15364914, ECO:0000269|PubMed:15454390, ECO:0000269|PubMed:16282361, ECO:0000269|PubMed:17344354, ECO:0000269|PubMed:17959747, ECO:0000269|PubMed:18300232, ECO:0000269|PubMed:26721430}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneABCC4chr13:111267994chr13:95768255ENST0000037688718311041_1274818.33333333333341326.0DomainABC transporter 2
TgeneABCC4chr13:111267994chr13:95768255ENST0000041270417301041_1274771.33333333333341279.0DomainABC transporter 2
TgeneABCC4chr13:111267994chr13:95768255ENST0000043152218211041_1274818.3333333333334860.0DomainABC transporter 2
TgeneABCC4chr13:111267994chr13:95768255ENST0000037688718311322_1325818.33333333333341326.0MotifNote=PDZ-binding
TgeneABCC4chr13:111267994chr13:95768255ENST0000041270417301322_1325771.33333333333341279.0MotifNote=PDZ-binding
TgeneABCC4chr13:111267994chr13:95768255ENST0000043152218211322_1325818.3333333333334860.0MotifNote=PDZ-binding
TgeneABCC4chr13:111267994chr13:95768255ENST0000037688718311075_1082818.33333333333341326.0Nucleotide bindingATP 2
TgeneABCC4chr13:111267994chr13:95768255ENST0000041270417301075_1082771.33333333333341279.0Nucleotide bindingATP 2
TgeneABCC4chr13:111267994chr13:95768255ENST0000043152218211075_1082818.3333333333334860.0Nucleotide bindingATP 2
TgeneABCC4chr13:111267994chr13:95768255ENST0000037688718311038_1058818.33333333333341326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831836_856818.33333333333341326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831858_878818.33333333333341326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831954_974818.33333333333341326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831977_997818.33333333333341326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST0000041270417301038_1058771.33333333333341279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730771_791771.33333333333341279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730836_856771.33333333333341279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730858_878771.33333333333341279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730954_974771.33333333333341279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730977_997771.33333333333341279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST0000043152218211038_1058818.3333333333334860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821836_856818.3333333333334860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821858_878818.3333333333334860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821954_974818.3333333333334860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821977_997818.3333333333334860.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCARKDchr13:111267994chr13:95768255ENST00000309957+11053_3440391.0DomainYjeF C-terminal
HgeneCARKDchr13:111267994chr13:95768255ENST00000424185+1753_34418.666666666666668238.0DomainYjeF C-terminal
HgeneCARKDchr13:111267994chr13:95768255ENST00000309957+110246_2500391.0Nucleotide bindingATP
HgeneCARKDchr13:111267994chr13:95768255ENST00000309957+110265_2740391.0Nucleotide bindingATP
HgeneCARKDchr13:111267994chr13:95768255ENST00000424185+17246_25018.666666666666668238.0Nucleotide bindingATP
HgeneCARKDchr13:111267994chr13:95768255ENST00000424185+17265_27418.666666666666668238.0Nucleotide bindingATP
HgeneCARKDchr13:111267994chr13:95768255ENST00000309957+110206_2120391.0RegionNAD(P)HX
HgeneCARKDchr13:111267994chr13:95768255ENST00000424185+17206_21218.666666666666668238.0RegionNAD(P)HX
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831410_633818.33333333333341326.0DomainABC transporter 1
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831714_1005818.33333333333341326.0DomainABC transmembrane type-1 2
TgeneABCC4chr13:111267994chr13:95768255ENST00000376887183192_377818.33333333333341326.0DomainABC transmembrane type-1 1
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730410_633771.33333333333341279.0DomainABC transporter 1
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730714_1005771.33333333333341279.0DomainABC transmembrane type-1 2
TgeneABCC4chr13:111267994chr13:95768255ENST00000412704173092_377771.33333333333341279.0DomainABC transmembrane type-1 1
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821410_633818.3333333333334860.0DomainABC transporter 1
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821714_1005818.3333333333334860.0DomainABC transmembrane type-1 2
TgeneABCC4chr13:111267994chr13:95768255ENST00000431522182192_377818.3333333333334860.0DomainABC transmembrane type-1 1
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831445_452818.33333333333341326.0Nucleotide bindingATP 1
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730445_452771.33333333333341279.0Nucleotide bindingATP 1
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821445_452818.3333333333334860.0Nucleotide bindingATP 1
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831136_156818.33333333333341326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831207_227818.33333333333341326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831228_248818.33333333333341326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831328_348818.33333333333341326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831351_371818.33333333333341326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831440_460818.33333333333341326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831710_730818.33333333333341326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831771_791818.33333333333341326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST00000376887183193_113818.33333333333341326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730136_156771.33333333333341279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730207_227771.33333333333341279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730228_248771.33333333333341279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730328_348771.33333333333341279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730351_371771.33333333333341279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730440_460771.33333333333341279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730710_730771.33333333333341279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST00000412704173093_113771.33333333333341279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821136_156818.3333333333334860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821207_227818.3333333333334860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821228_248818.3333333333334860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821328_348818.3333333333334860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821351_371818.3333333333334860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821440_460818.3333333333334860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821710_730818.3333333333334860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821771_791818.3333333333334860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST00000431522182193_113818.3333333333334860.0TransmembraneHelical


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
CARKD
ABCC4


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to CARKD-ABCC4


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to CARKD-ABCC4


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource