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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:TMEM106B-ABCB5

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: TMEM106B-ABCB5
FusionPDB ID: 91512
FusionGDB2.0 ID: 91512
HgeneTgene
Gene symbol

TMEM106B

ABCB5

Gene ID

54664

340273

Gene nametransmembrane protein 106BATP binding cassette subfamily B member 5
SynonymsHLD16ABCB5alpha|ABCB5beta|EST422562
Cytomap

7p21.3

7p21.1

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane protein 106BATP-binding cassette sub-family B member 5ABCB5 P-gpATP-binding cassette proteinATP-binding cassette, sub-family B (MDR/TAP), member 5P-glycoprotein ABCB5
Modification date2020031320200313
UniProtAcc.

Q2M3G0

Ensembl transtripts involved in fusion geneENST idsENST00000396667, ENST00000396668, 
ENST00000453686, 
ENST00000406935, 
ENST00000443026, ENST00000477094, 
ENST00000258738, ENST00000404938, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 6 X 4=1448 X 7 X 5=280
# samples 68
** MAII scorelog2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: TMEM106B [Title/Abstract] AND ABCB5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)TMEM106B(12258147)-ABCB5(20778606), # samples:1
Anticipated loss of major functional domain due to fusion event.TMEM106B-ABCB5 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.
TMEM106B-ABCB5 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.
TMEM106B-ABCB5 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.
TMEM106B-ABCB5 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.
* 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
TgeneABCB5

GO:0042391

regulation of membrane potential

12960149

TgeneABCB5

GO:0055085

transmembrane transport

12960149


check buttonFusion gene breakpoints across TMEM106B (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 ABCB5 (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
ChimerDB4BRCATCGA-A2-A0CL-01ATMEM106Bchr7

12258147

+ABCB5chr7

20778606

+


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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)
ENST00000396668TMEM106Bchr712258147+ENST00000404938ABCB5chr720778606+27604681091374421
ENST00000396668TMEM106Bchr712258147+ENST00000258738ABCB5chr720778606+13754681091374422
ENST00000396667TMEM106Bchr712258147+ENST00000404938ABCB5chr720778606+28956033221509395
ENST00000396667TMEM106Bchr712258147+ENST00000258738ABCB5chr720778606+15106033221509396

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
ENST00000396668ENST00000404938TMEM106Bchr712258147+ABCB5chr720778606+0.0004567640.9995433
ENST00000396668ENST00000258738TMEM106Bchr712258147+ABCB5chr720778606+0.0021271790.9978728
ENST00000396667ENST00000404938TMEM106Bchr712258147+ABCB5chr720778606+0.0004663250.99953365
ENST00000396667ENST00000258738TMEM106Bchr712258147+ABCB5chr720778606+0.0019855530.99801445

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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

>91512_91512_1_TMEM106B-ABCB5_TMEM106B_chr7_12258147_ENST00000396667_ABCB5_chr7_20778606_ENST00000258738_length(amino acids)=396AA_BP=89
MGKSLSHLPLHSSKEDAYDGVTSENMRNGLVNSEVHNEDGRNGDVSQFPYVEFTGRDSVTCPTCQGTGRIPRGQENQLVALIPYSDQRLR
PRRTVFTAIAYGAMAIGETLVLAPEYSKAKSGAAHLFALLEKKPNIDSRSQEGKKPDTCEGNLEFREVSFFYPCRPDVFILRGLSLSIER
GKTVAFVGSSGCGKSTSVQLLQRLYDPVQGQVLFDGVDAKELNVQWLRSQIAIVPQEPVLFNCSIAENIAYGDNSRVVPLDEIKEAANAA
NIHSFIEGLPEKYNTQVGLKGAQLSGGQKQRLAIARALLQKPKILLLDEATSALDNDSEKVVQHALDKARTGRTCLVVTHRLSAIQNADL

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

>91512_91512_2_TMEM106B-ABCB5_TMEM106B_chr7_12258147_ENST00000396667_ABCB5_chr7_20778606_ENST00000404938_length(amino acids)=395AA_BP=89
MGKSLSHLPLHSSKEDAYDGVTSENMRNGLVNSEVHNEDGRNGDVSQFPYVEFTGRDSVTCPTCQGTGRIPRGQENQLVALIPYSDQRLR
PRRTVFTAIAYGAMAIGETLVLAPEYSKAKSGAAHLFALLEKKPNIDSRSQEGKKPDTCEGNLEFREVSFFYPCRPDVFILRGLSLSIER
GKTVAFVGSSGCGKSTSVQLLQRLYDPVQGQVLFDGVDAKELNVQWLRSQIAIVPQEPVLFNCSIAENIAYGDNSRVVPLDEIKEAANAA
NIHSFIEGLPEKYNTQVGLKGAQLSGGQKQRLAIARALLQKPKILLLDEATSALDNDSEKVVQHALDKARTGRTCLVVTHRLSAIQNADL

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

>91512_91512_3_TMEM106B-ABCB5_TMEM106B_chr7_12258147_ENST00000396668_ABCB5_chr7_20778606_ENST00000258738_length(amino acids)=422AA_BP=115
MWTPRPCPRPCPRRSSPGLRSAPRADMGKSLSHLPLHSSKEDAYDGVTSENMRNGLVNSEVHNEDGRNGDVSQFPYVEFTGRDSVTCPTC
QGTGRIPRGQENQLVALIPYSDQRLRPRRTVFTAIAYGAMAIGETLVLAPEYSKAKSGAAHLFALLEKKPNIDSRSQEGKKPDTCEGNLE
FREVSFFYPCRPDVFILRGLSLSIERGKTVAFVGSSGCGKSTSVQLLQRLYDPVQGQVLFDGVDAKELNVQWLRSQIAIVPQEPVLFNCS
IAENIAYGDNSRVVPLDEIKEAANAANIHSFIEGLPEKYNTQVGLKGAQLSGGQKQRLAIARALLQKPKILLLDEATSALDNDSEKVVQH

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

>91512_91512_4_TMEM106B-ABCB5_TMEM106B_chr7_12258147_ENST00000396668_ABCB5_chr7_20778606_ENST00000404938_length(amino acids)=421AA_BP=115
MWTPRPCPRPCPRRSSPGLRSAPRADMGKSLSHLPLHSSKEDAYDGVTSENMRNGLVNSEVHNEDGRNGDVSQFPYVEFTGRDSVTCPTC
QGTGRIPRGQENQLVALIPYSDQRLRPRRTVFTAIAYGAMAIGETLVLAPEYSKAKSGAAHLFALLEKKPNIDSRSQEGKKPDTCEGNLE
FREVSFFYPCRPDVFILRGLSLSIERGKTVAFVGSSGCGKSTSVQLLQRLYDPVQGQVLFDGVDAKELNVQWLRSQIAIVPQEPVLFNCS
IAENIAYGDNSRVVPLDEIKEAANAANIHSFIEGLPEKYNTQVGLKGAQLSGGQKQRLAIARALLQKPKILLLDEATSALDNDSEKVVQH

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

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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/chr7:12258147/chr7:20778606)
- 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
.ABCB5

Q2M3G0

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: Energy-dependent efflux transporter responsible for decreased drug accumulation in multidrug-resistant cells (PubMed:12960149, PubMed:22306008, PubMed:15899824, PubMed:15205344). Specifically present in limbal stem cells, where it plays a key role in corneal development and repair (By similarity). {ECO:0000250|UniProtKB:B5X0E4, ECO:0000269|PubMed:12960149, ECO:0000269|PubMed:15205344, ECO:0000269|PubMed:15899824, ECO:0000269|PubMed:22306008}.

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
HgeneTMEM106Bchr7:12258147chr7:20778606ENST00000396667+492_9693.66666666666667275.0Topological domainCytoplasmic
HgeneTMEM106Bchr7:12258147chr7:20778606ENST00000396668+382_9693.66666666666667275.0Topological domainCytoplasmic
TgeneABCB5chr7:12258147chr7:20778606ENST0000025873813191015_1253510.6666666666667813.0DomainABC transporter 2
TgeneABCB5chr7:12258147chr7:20778606ENST000002587381319693_980510.6666666666667813.0DomainABC transmembrane type-1 2
TgeneABCB5chr7:12258147chr7:20778606ENST0000040493822281015_1253955.66666666666661258.0DomainABC transporter 2
TgeneABCB5chr7:12258147chr7:20778606ENST00000406935061015_12530127.0DomainABC transporter 2
TgeneABCB5chr7:12258147chr7:20778606ENST0000040693506386_6220127.0DomainABC transporter 1
TgeneABCB5chr7:12258147chr7:20778606ENST000004069350649_3500127.0DomainABC transmembrane type-1 1
TgeneABCB5chr7:12258147chr7:20778606ENST0000040693506693_9800127.0DomainABC transmembrane type-1 2
TgeneABCB5chr7:12258147chr7:20778606ENST00000443026061015_12530132.0DomainABC transporter 2
TgeneABCB5chr7:12258147chr7:20778606ENST0000044302606386_6220132.0DomainABC transporter 1
TgeneABCB5chr7:12258147chr7:20778606ENST000004430260649_3500132.0DomainABC transmembrane type-1 1
TgeneABCB5chr7:12258147chr7:20778606ENST0000044302606693_9800132.0DomainABC transmembrane type-1 2
TgeneABCB5chr7:12258147chr7:20778606ENST0000025873813191050_1057510.6666666666667813.0Nucleotide bindingATP
TgeneABCB5chr7:12258147chr7:20778606ENST0000040493822281050_1057955.66666666666661258.0Nucleotide bindingATP
TgeneABCB5chr7:12258147chr7:20778606ENST00000406935061050_10570127.0Nucleotide bindingATP
TgeneABCB5chr7:12258147chr7:20778606ENST0000040693506421_4280127.0Nucleotide bindingATP
TgeneABCB5chr7:12258147chr7:20778606ENST00000443026061050_10570132.0Nucleotide bindingATP
TgeneABCB5chr7:12258147chr7:20778606ENST0000044302606421_4280132.0Nucleotide bindingATP
TgeneABCB5chr7:12258147chr7:20778606ENST000002587381319693_713510.6666666666667813.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000002587381319737_757510.6666666666667813.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000002587381319827_847510.6666666666667813.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000002587381319917_937510.6666666666667813.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000002587381319954_974510.6666666666667813.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000004049382228954_974955.66666666666661258.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST0000040693506110_1300127.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST0000040693506181_2010127.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST0000040693506203_2230127.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST0000040693506294_3140127.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST0000040693506322_3420127.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000004069350649_690127.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST0000040693506693_7130127.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST0000040693506737_7570127.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST0000040693506827_8470127.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST0000040693506917_9370127.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST0000040693506954_9740127.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST0000044302606110_1300132.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST0000044302606181_2010132.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST0000044302606203_2230132.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST0000044302606294_3140132.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST0000044302606322_3420132.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000004430260649_690132.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST0000044302606693_7130132.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST0000044302606737_7570132.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST0000044302606827_8470132.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST0000044302606917_9370132.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST0000044302606954_9740132.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTMEM106Bchr7:12258147chr7:20778606ENST00000396667+49118_27493.66666666666667275.0Topological domainLumenal
HgeneTMEM106Bchr7:12258147chr7:20778606ENST00000396668+38118_27493.66666666666667275.0Topological domainLumenal
HgeneTMEM106Bchr7:12258147chr7:20778606ENST00000396667+4997_11793.66666666666667275.0TransmembraneHelical
HgeneTMEM106Bchr7:12258147chr7:20778606ENST00000396668+3897_11793.66666666666667275.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000002587381319386_622510.6666666666667813.0DomainABC transporter 1
TgeneABCB5chr7:12258147chr7:20778606ENST00000258738131949_350510.6666666666667813.0DomainABC transmembrane type-1 1
TgeneABCB5chr7:12258147chr7:20778606ENST000004049382228386_622955.66666666666661258.0DomainABC transporter 1
TgeneABCB5chr7:12258147chr7:20778606ENST00000404938222849_350955.66666666666661258.0DomainABC transmembrane type-1 1
TgeneABCB5chr7:12258147chr7:20778606ENST000004049382228693_980955.66666666666661258.0DomainABC transmembrane type-1 2
TgeneABCB5chr7:12258147chr7:20778606ENST000002587381319421_428510.6666666666667813.0Nucleotide bindingATP
TgeneABCB5chr7:12258147chr7:20778606ENST000004049382228421_428955.66666666666661258.0Nucleotide bindingATP
TgeneABCB5chr7:12258147chr7:20778606ENST000002587381319110_130510.6666666666667813.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000002587381319181_201510.6666666666667813.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000002587381319203_223510.6666666666667813.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000002587381319294_314510.6666666666667813.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000002587381319322_342510.6666666666667813.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST00000258738131949_69510.6666666666667813.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000004049382228110_130955.66666666666661258.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000004049382228181_201955.66666666666661258.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000004049382228203_223955.66666666666661258.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000004049382228294_314955.66666666666661258.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000004049382228322_342955.66666666666661258.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST00000404938222849_69955.66666666666661258.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000004049382228693_713955.66666666666661258.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000004049382228737_757955.66666666666661258.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000004049382228827_847955.66666666666661258.0TransmembraneHelical
TgeneABCB5chr7:12258147chr7:20778606ENST000004049382228917_937955.66666666666661258.0TransmembraneHelical


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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
TMEM106B
ABCB5


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 TMEM106B-ABCB5


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 TMEM106B-ABCB5


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