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Center for Computational Systems Medicine level2
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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 Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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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:CYP7B1-EPS15

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CYP7B1-EPS15
FusionPDB ID: 21114
FusionGDB2.0 ID: 21114
HgeneTgene
Gene symbol

CYP7B1

EPS15

Gene ID

9420

2060

Gene namecytochrome P450 family 7 subfamily B member 1epidermal growth factor receptor pathway substrate 15
SynonymsCBAS3|CP7B|SPG5AAF-1P|AF1P|MLLT5
Cytomap

8q12.3

1p32.3

Type of geneprotein-codingprotein-coding
Descriptioncytochrome P450 7B124-hydroxycholesterol 7-alpha-hydroxylase25-hydroxycholesterol 7-alpha-hydroxylase25/26-hydroxycholesterol 7-alpha-hydroxylase3-hydroxysteroid 7-alpha hydroxylasecytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polyepidermal growth factor receptor substrate 15ALL1 fused gene from chromosome 1protein AF-1p
Modification date2020031320200313
UniProtAcc

O75881

Q9UBC2

Ensembl transtripts involved in fusion geneENST idsENST00000310193, ENST00000523954, 
ENST00000396122, ENST00000493793, 
ENST00000371730, ENST00000371733, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 4 X 4=6411 X 14 X 5=770
# samples 514
** MAII scorelog2(5/64*10)=-0.356143810225275
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/770*10)=-2.4594316186373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: CYP7B1 [Title/Abstract] AND EPS15 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CYP7B1(65517239)-EPS15(51946986), # samples:3
Anticipated loss of major functional domain due to fusion event.CYP7B1-EPS15 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.
CYP7B1-EPS15 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.
CYP7B1-EPS15 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.
CYP7B1-EPS15 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
TgeneEPS15

GO:0048268

clathrin coat assembly

12807910


check buttonFusion gene breakpoints across CYP7B1 (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 EPS15 (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
ChimerDB4SARCTCGA-DX-AB2W-01ACYP7B1chr8

65517239

-EPS15chr1

51946986

-
ChimerDB4SARCTCGA-PC-A5DO-01ACYP7B1chr8

65517239

-EPS15chr1

51946986

-


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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)
ENST00000310193CYP7B1chr865517239-ENST00000371730EPS15chr151946986-6100140717436621162
ENST00000310193CYP7B1chr865517239-ENST00000371733EPS15chr151946986-6502140717440641296

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
ENST00000310193ENST00000371730CYP7B1chr865517239-EPS15chr151946986-7.09E-050.9999291
ENST00000310193ENST00000371733CYP7B1chr865517239-EPS15chr151946986-0.0001729890.9998271

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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

>21114_21114_1_CYP7B1-EPS15_CYP7B1_chr8_65517239_ENST00000310193_EPS15_chr1_51946986_ENST00000371730_length(amino acids)=1162AA_BP=411
MAGEVSAATGRFSLERLGLPGLALAAALLLLALCLLVRRTRRPGEPPLIKGWLPYLGVVLNLRKDPLRFMKTLQKQHGDTFTVLLGGKYI
TFILDPFQYQLVIKNHKQLSFRVFSNKLLEKAFSISQLQKNHDMNDELHLCYQFLQGKSLDILLESMMQNLKQVFEPQLLKTTSWDTAEL
YPFCSSIIFEITFTTIYGKVIVCDNNKFISELRDDFLKFDDKFAYLVSNIPIELLGNVKSIREKIIKCFSSEKLAKMQGWSEVFQSRQDV
LEKYYVHEDLEIGAHHLGFLWASVANTIPTMFWAMYYLLRHPEAMAAVRDEIDRLLQSTGQKKGSGFPIHLTREQLDSLICLESSIFEAL
RLSSYSTTIRFVEEDLTLSSETGDYCVRKGDLVAIFPPVLHGDPEIFEAPELSSGNPVYEKYYRQVDTGNTGRVLASDAAAFLKKSGLPD
LILGKIWDLADTDGKGILNKQEFFVALRLVACAQNGLEVSLSSLNLAVPPPRFHDTSSPLLISGTSAAELPWAVKPEDKAKYDAIFDSLS
PVNGFLSGDKVKPVLLNSKLPVDILGRVWELSDIDHDGMLDRDEFAVAMFLVYCALEKEPVPMSLPPALVPPSKRKTWVVSPAEKAKYDE
IFLKTDKDMDGFVSGLEVREIFLKTGLPSTLLAHIWSLCDTKDCGKLSKDQFALAFHLISQKLIKGIDPPHVLTPEMIPPSDRASLQKNI
IGSSPVADFSAIKELDTLNNEIVDLQREKNNVEQDLKEKEDTIKQRTSEVQDLQDEVQRENTNLQKLQAQKQQVQELLDELDEQKAQLEE
QLKEVRKKCAEEAQLARSSPELLPSGVTDENEVTTAVTEKVCSELDNNRHSKEEDPFNVDSSSLTGPVADTNLDFFQSDPFVGSDPFKDD
PFGKIDPFGGDPFKGSDPFASDCFFRQSTDPFATSSTDPFSAANNSSITSVETLKHNDPFAPGGTVVAASDSATDPFASVFGNESFGGGF
ADFSTLSKVNNEDPFRSATSSSVSNVVITKNVFEETSVKSEDEPPALPPKIGTPTRPCPLPPGKRSINKLDSPDPFKLNDPFQPFPGNDS

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>21114_21114_2_CYP7B1-EPS15_CYP7B1_chr8_65517239_ENST00000310193_EPS15_chr1_51946986_ENST00000371733_length(amino acids)=1296AA_BP=411
MAGEVSAATGRFSLERLGLPGLALAAALLLLALCLLVRRTRRPGEPPLIKGWLPYLGVVLNLRKDPLRFMKTLQKQHGDTFTVLLGGKYI
TFILDPFQYQLVIKNHKQLSFRVFSNKLLEKAFSISQLQKNHDMNDELHLCYQFLQGKSLDILLESMMQNLKQVFEPQLLKTTSWDTAEL
YPFCSSIIFEITFTTIYGKVIVCDNNKFISELRDDFLKFDDKFAYLVSNIPIELLGNVKSIREKIIKCFSSEKLAKMQGWSEVFQSRQDV
LEKYYVHEDLEIGAHHLGFLWASVANTIPTMFWAMYYLLRHPEAMAAVRDEIDRLLQSTGQKKGSGFPIHLTREQLDSLICLESSIFEAL
RLSSYSTTIRFVEEDLTLSSETGDYCVRKGDLVAIFPPVLHGDPEIFEAPELSSGNPVYEKYYRQVDTGNTGRVLASDAAAFLKKSGLPD
LILGKIWDLADTDGKGILNKQEFFVALRLVACAQNGLEVSLSSLNLAVPPPRFHDTSSPLLISGTSAAELPWAVKPEDKAKYDAIFDSLS
PVNGFLSGDKVKPVLLNSKLPVDILGRVWELSDIDHDGMLDRDEFAVAMFLVYCALEKEPVPMSLPPALVPPSKRKTWVVSPAEKAKYDE
IFLKTDKDMDGFVSGLEVREIFLKTGLPSTLLAHIWSLCDTKDCGKLSKDQFALAFHLISQKLIKGIDPPHVLTPEMIPPSDRASLQKNI
IGSSPVADFSAIKELDTLNNEIVDLQREKNNVEQDLKEKEDTIKQRTSEVQDLQDEVQRENTNLQKLQAQKQQVQELLDELDEQKAQLEE
QLKEVRKKCAEEAQLISSLKAELTSQESQISTYEEELAKAREELSRLQQETAELEESVESGKAQLEPLQQHLQDSQQEISSMQMKLMEMK
DLENHNSQLNWCSSPHSILVNGATDYCSLSTSSSETANLNEHVEGQSNLESEPIHQESPARSSPELLPSGVTDENEVTTAVTEKVCSELD
NNRHSKEEDPFNVDSSSLTGPVADTNLDFFQSDPFVGSDPFKDDPFGKIDPFGGDPFKGSDPFASDCFFRQSTDPFATSSTDPFSAANNS
SITSVETLKHNDPFAPGGTVVAASDSATDPFASVFGNESFGGGFADFSTLSKVNNEDPFRSATSSSVSNVVITKNVFEETSVKSEDEPPA
LPPKIGTPTRPCPLPPGKRSINKLDSPDPFKLNDPFQPFPGNDSPKEKDPEIFCDPFTSATTTTNKEADPSNFANFSAYPSEEDMIEWAK

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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/chr8:65517239/chr1:51946986)
- 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
CYP7B1

O75881

EPS15

Q9UBC2

FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of endogenous oxysterols and steroid hormones, including neurosteroids (PubMed:10588945, PubMed:24491228). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:10588945, PubMed:24491228). Catalyzes the hydroxylation of carbon hydrogen bonds of steroids with a preference for 7-alpha position (PubMed:10588945, PubMed:24491228). Usually metabolizes steroids carrying a hydroxy group at position 3, functioning as a 3-hydroxy steroid 7-alpha hydroxylase (PubMed:24491228). Hydroxylates oxysterols, including 25-hydroxycholesterol and (25R)-cholest-5-ene-3beta,26-diol toward 7-alpha hydroxy derivatives, which may be transported to the liver and converted to bile acids (PubMed:9802883, PubMed:10588945). Via its product 7-alpha,25-dihydroxycholesterol, a ligand for the chemotactic G protein-coupled receptor GPR183/EBI2, regulates B cell migration in germinal centers of lymphoid organs, thus guiding efficient maturation of plasma B cells and overall antigen-specific humoral immune response (By similarity). 7-alpha hydroxylates neurosteroids, including 3beta-hydroxyandrost-5-en-17-one (dehydroepiandrosterone) and pregnenolone, both involved in hippocampus-associated memory and learning (PubMed:24491228). Metabolizes androstanoids toward 6- or 7-alpha hydroxy derivatives (PubMed:24491228). {ECO:0000250|UniProtKB:Q60991, ECO:0000269|PubMed:10588945, ECO:0000269|PubMed:24491228, ECO:0000269|PubMed:9802883}.FUNCTION: Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2. {ECO:0000269|PubMed:22648170, ECO:0000269|PubMed:9407958}.

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
HgeneCYP7B1chr8:65517239chr1:51946986ENST00000310193-5617_37411.0507.0TransmembraneHelical
HgeneCYP7B1chr8:65517239chr1:51946986ENST00000310193-56289_309411.0507.0TransmembraneHelical
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025173_18411.0897.0Calcium bindingNote=1
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025236_24711.0897.0Calcium bindingNote=2
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025768_85011.0897.0Compositional biasNote=Pro-rich
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025128_21611.0897.0DomainEH 2
TgeneEPS15chr8:65517239chr1:51946986ENST0000037173302515_10411.0897.0DomainEH 1
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025160_19511.0897.0DomainEF-hand 1
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025223_25811.0897.0DomainEF-hand 2
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025224_31411.0897.0DomainEH 3
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025851_87011.0897.0DomainUIM 1
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025877_89611.0897.0DomainUIM 2
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025768_77411.0897.0MotifNote=SH3-binding
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025599_82711.0897.0RegionNote=15 X 3 AA repeats of D-P-F
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025599_60111.0897.0RepeatNote=1
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025623_62511.0897.0RepeatNote=2
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025629_63111.0897.0RepeatNote=3
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025634_63611.0897.0RepeatNote=4
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025640_64211.0897.0RepeatNote=5
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025645_64711.0897.0RepeatNote=6
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025651_65311.0897.0RepeatNote=7
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025664_66611.0897.0RepeatNote=8
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025672_67411.0897.0RepeatNote=9
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025692_69411.0897.0RepeatNote=10
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025709_71111.0897.0RepeatNote=11
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025737_73911.0897.0RepeatNote=12
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025798_80011.0897.0RepeatNote=13
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025804_80611.0897.0RepeatNote=14
TgeneEPS15chr8:65517239chr1:51946986ENST00000371733025825_82711.0897.0RepeatNote=15

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
CYP7B1_pLDDT.png
all structure
all structure
EPS15_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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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
EPS15RNF11, SNAP91, AGFG1, NAGPA, STON2, HGS, AP2A2, DNM2, AP2A1, EGFR, CLINT1, EPN1, SCAMP1, STAM2, GRB2, CRK, RAB11FIP2, Synj1, REPS2, UBE2D1, UBE2D2, UBE2D3, UBE2H, UBE2E1, SLC6A3, PARK2, USP8, CD4, EPS15, OCLN, UBQLN1, UBC, NEDD4, GJA1, TGFB1, Zwint, FCHO2, ITSN1, ITSN2, ELAVL1, RAD23A, UBQLN2, EPN3, SH3BP4, AP1B1, NUMB, SPG20, TFAP2A, ABL1, AP2B1, IQGAP1, KRT85, KRT1, KRT10, KRT2, AP2M1, KRT14, KRT86, KRT5, KRT6A, KRT16, KRT9, HSPA8, KRT35, HSPA9, KRT17, KRT33B, KRT83, BMP2K, KRT34, KRT82, NONO, KRT38, KRT75, KRT79, PRDX1, KRT36, KRT32, MAP4, HSPA1L, HSPA1B, KRT37, HSPA5, KRT73, AP2S1, NECAP2, TRAF2, MCCC2, KRT4, ACTB, KRT3, VPRBP, TUBB, HIST4H4, PCCB, KRTAP9-3, NECAP1, VSIG8, CCT3, CRKL, Dab2, FN1, VCAM1, Fcho2, LAPTM5, ITGA4, OPTN, RABL6, EPHA2, CORO7, UBI4, AGFG2, SLC25A41, AURKA, SPC25, Numb, NTRK1, TMEM17, XPO1, CAPZA2, CLTB, CLTC, DBN1, FLNA, GAK, MYH9, PPP1CB, PICALM, PDLIM7, SYNPO, MAPRE1, LIMA1, GTSE1, ANLN, MYO19, Actb, Flot1, Myh9, Myo1c, Tpm1, Lima1, Calml3, Myh10, Sec24c, Flnb, MAPK14, AP1G1, MYO6, SPOPL, SGIP1, FCHO1, CDH1, RUNDC3A, LSR, STAMBPL1, CCDC172, OXCT1, MTNR1A, RNF26, fcho1, HNRNPL, STK40, DYRK1A, PLK1, DVL2, MIB1, ORF7a, ESR1, TRIM56, KIF14, Rnf183, DNAJC5, DDX58, ACBD5, CLTA, VASP, NAA40, RNPS1, MACC1, SYCE1, RARRES1, POLR2J3, EPS15L1, C15orf59, ZCCHC10, SYNC, INO80E, DNAJC6, RUFY4,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
CYP7B1
EPS15all structure


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
TgeneEPS15chr8:65517239chr1:51946986ENST000003717330252_33011.0897.0DAB2


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Related Drugs to CYP7B1-EPS15


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 CYP7B1-EPS15


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