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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:CPSF6-ATP5C1 (FusionGDB2 ID:19146)

Fusion Gene Summary for CPSF6-ATP5C1

check button Fusion gene summary
Fusion gene informationFusion gene name: CPSF6-ATP5C1
Fusion gene ID: 19146
HgeneTgene
Gene symbol

CPSF6

ATP5C1

Gene ID

11052

509

Gene namecleavage and polyadenylation specific factor 6ATP synthase F1 subunit gamma
SynonymsCFIM|CFIM68|CFIM72|HPBRII-4|HPBRII-7ATP5C|ATP5C1|ATP5CL1
Cytomap

12q15

10p14

Type of geneprotein-codingprotein-coding
Descriptioncleavage and polyadenylation specificity factor subunit 6CPSF 68 kDa subunitcleavage and polyadenylation specific factor 6, 68kDacleavage and polyadenylation specificity factor 68 kDa subunitcleavage factor Im complex 68 kDa subunitpre-mRNA cleavage ATP synthase subunit gamma, mitochondrialATP synthase gamma chain, mitochondrialATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1F-ATPase gamma subunitmitochondrial ATP synthase, gamma subunit 1
Modification date2020031320200320
UniProtAcc

Q16630

.
Ensembl transtripts involved in fusion geneENST00000435070, ENST00000456847, 
ENST00000266679, ENST00000550987, 
ENST00000551516, 
ENST00000356708, 
ENST00000493053, ENST00000541227, 
ENST00000335698, 
Fusion gene scores* DoF score69 X 12 X 19=1573211 X 9 X 7=693
# samples 7113
** MAII scorelog2(71/15732*10)=-4.46973925655087
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/693*10)=-2.41434372910876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CPSF6 [Title/Abstract] AND ATP5C1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCPSF6(69650622)-ATP5C1(7844720), # 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
HgeneCPSF6

GO:0006397

mRNA processing

14690600

HgeneCPSF6

GO:0051262

protein tetramerization

20695905

HgeneCPSF6

GO:0051290

protein heterotetramerization

23187700

HgeneCPSF6

GO:1990120

messenger ribonucleoprotein complex assembly

29276085

TgeneATP5C1

GO:0042776

mitochondrial ATP synthesis coupled proton transport

12110673


check buttonFusion gene breakpoints across CPSF6 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across ATP5C1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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-EQ-8122CPSF6chr12

69650622

+ATP5C1chr10

7844720

+


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Fusion Gene ORF analysis for CPSF6-ATP5C1

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
In-frameENST00000435070ENST00000356708CPSF6chr12

69650622

+ATP5C1chr10

7844720

+
5CDS-3UTRENST00000435070ENST00000493053CPSF6chr12

69650622

+ATP5C1chr10

7844720

+
5CDS-3UTRENST00000435070ENST00000541227CPSF6chr12

69650622

+ATP5C1chr10

7844720

+
5CDS-3UTRENST00000435070ENST00000335698CPSF6chr12

69650622

+ATP5C1chr10

7844720

+
In-frameENST00000456847ENST00000356708CPSF6chr12

69650622

+ATP5C1chr10

7844720

+
5CDS-3UTRENST00000456847ENST00000493053CPSF6chr12

69650622

+ATP5C1chr10

7844720

+
5CDS-3UTRENST00000456847ENST00000541227CPSF6chr12

69650622

+ATP5C1chr10

7844720

+
5CDS-3UTRENST00000456847ENST00000335698CPSF6chr12

69650622

+ATP5C1chr10

7844720

+
In-frameENST00000266679ENST00000356708CPSF6chr12

69650622

+ATP5C1chr10

7844720

+
5CDS-3UTRENST00000266679ENST00000493053CPSF6chr12

69650622

+ATP5C1chr10

7844720

+
5CDS-3UTRENST00000266679ENST00000541227CPSF6chr12

69650622

+ATP5C1chr10

7844720

+
5CDS-3UTRENST00000266679ENST00000335698CPSF6chr12

69650622

+ATP5C1chr10

7844720

+
intron-3CDSENST00000550987ENST00000356708CPSF6chr12

69650622

+ATP5C1chr10

7844720

+
intron-3UTRENST00000550987ENST00000493053CPSF6chr12

69650622

+ATP5C1chr10

7844720

+
intron-3UTRENST00000550987ENST00000541227CPSF6chr12

69650622

+ATP5C1chr10

7844720

+
intron-3UTRENST00000550987ENST00000335698CPSF6chr12

69650622

+ATP5C1chr10

7844720

+
intron-3CDSENST00000551516ENST00000356708CPSF6chr12

69650622

+ATP5C1chr10

7844720

+
intron-3UTRENST00000551516ENST00000493053CPSF6chr12

69650622

+ATP5C1chr10

7844720

+
intron-3UTRENST00000551516ENST00000541227CPSF6chr12

69650622

+ATP5C1chr10

7844720

+
intron-3UTRENST00000551516ENST00000335698CPSF6chr12

69650622

+ATP5C1chr10

7844720

+

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)
ENST00000435070CPSF6chr1269650622+ENST00000356708ATP5C1chr107844720+921630110733207
ENST00000456847CPSF6chr1269650622+ENST00000356708ATP5C1chr107844720+85856747670207
ENST00000266679CPSF6chr1269650622+ENST00000356708ATP5C1chr107844720+84255131654207

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
ENST00000435070ENST00000356708CPSF6chr1269650622+ATP5C1chr107844720+0.0007659830.9992341
ENST00000456847ENST00000356708CPSF6chr1269650622+ATP5C1chr107844720+0.0008708570.9991291
ENST00000266679ENST00000356708CPSF6chr1269650622+ATP5C1chr107844720+0.0008972050.99910283

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Fusion Genomic Features for CPSF6-ATP5C1


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)
CPSF6chr1269650622+ATP5C1chr107844720+0.505454840.49454516
CPSF6chr1269650622+ATP5C1chr107844720+0.505454840.49454516

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

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.

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Fusion Protein Features for CPSF6-ATP5C1


check button Go to

FGviewer for the breakpoints of chr12:69650622-chr10:7844720

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CPSF6

Q16630

.
FUNCTION: Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3'-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs (PubMed:9659921, PubMed:8626397, PubMed:14690600, PubMed:29276085). CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3'-end, so called cleavage and polyadenylation signals (pA signals) (PubMed:9659921, PubMed:8626397, PubMed:14690600). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3'-end formation (PubMed:23187700, PubMed:29276085). The CFIm complex acts as a key regulator of cleavage and polyadenylation site choice during APA through its binding to 5'-UGUA-3' elements localized in the 3'-untranslated region (UTR) for a huge number of pre-mRNAs (PubMed:20695905, PubMed:29276085). CPSF6 enhances NUDT21/CPSF5 binding to 5'-UGUA-3' elements localized upstream of pA signals and promotes RNA looping, and hence activates directly the mRNA 3'-processing machinery (PubMed:15169763, PubMed:29276085, PubMed:21295486). Plays a role in mRNA export (PubMed:19864460). {ECO:0000269|PubMed:14690600, ECO:0000269|PubMed:15169763, ECO:0000269|PubMed:19864460, ECO:0000269|PubMed:20695905, ECO:0000269|PubMed:21295486, ECO:0000269|PubMed:23187700, ECO:0000269|PubMed:29276085, ECO:0000269|PubMed:8626397, ECO:0000269|PubMed:9659921}.; FUNCTION: (Microbial infection) Binds HIV-1 capsid-nucleocapsid (HIV-1 CA-NC) complexes and might thereby promote the integration of the virus in the nucleus of dividing cells (in vitro). {ECO:0000269|PubMed:24130490}.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.

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
HgeneCPSF6chr12:69650622chr10:7844720ENST00000266679+41181_161173.33333333333334701.3333333333334RegionNecessary for nuclear paraspeckles localization
HgeneCPSF6chr12:69650622chr10:7844720ENST00000435070+41081_161173.333333333333342111.0RegionNecessary for nuclear paraspeckles localization

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCPSF6chr12:69650622chr10:7844720ENST00000266679+411208_398173.33333333333334701.3333333333334Compositional biasNote=Pro-rich
HgeneCPSF6chr12:69650622chr10:7844720ENST00000266679+411490_551173.33333333333334701.3333333333334Compositional biasNote=Arg-rich
HgeneCPSF6chr12:69650622chr10:7844720ENST00000435070+410208_398173.333333333333342111.0Compositional biasNote=Pro-rich
HgeneCPSF6chr12:69650622chr10:7844720ENST00000435070+410490_551173.333333333333342111.0Compositional biasNote=Arg-rich
HgeneCPSF6chr12:69650622chr10:7844720ENST00000266679+411202_206173.33333333333334701.3333333333334MotifGAR
HgeneCPSF6chr12:69650622chr10:7844720ENST00000435070+410202_206173.333333333333342111.0MotifGAR
HgeneCPSF6chr12:69650622chr10:7844720ENST00000266679+411358_551173.33333333333334701.3333333333334Region(Microbial infection) Binds to HIV-1 capsid protein p24 (CA)
HgeneCPSF6chr12:69650622chr10:7844720ENST00000266679+411404_551173.33333333333334701.3333333333334RegionSufficient for nuclear speckle localization
HgeneCPSF6chr12:69650622chr10:7844720ENST00000266679+411405_551173.33333333333334701.3333333333334RegionNecessary for RNA-binding
HgeneCPSF6chr12:69650622chr10:7844720ENST00000266679+411510_551173.33333333333334701.3333333333334RegionSufficient for nuclear targeting
HgeneCPSF6chr12:69650622chr10:7844720ENST00000435070+410358_551173.333333333333342111.0Region(Microbial infection) Binds to HIV-1 capsid protein p24 (CA)
HgeneCPSF6chr12:69650622chr10:7844720ENST00000435070+410404_551173.333333333333342111.0RegionSufficient for nuclear speckle localization
HgeneCPSF6chr12:69650622chr10:7844720ENST00000435070+410405_551173.333333333333342111.0RegionNecessary for RNA-binding
HgeneCPSF6chr12:69650622chr10:7844720ENST00000435070+410510_551173.333333333333342111.0RegionSufficient for nuclear targeting


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Fusion Gene Sequence for CPSF6-ATP5C1


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.
>In-frame_ENST00000435070_ENST00000356708_TCGA-EQ-8122_CPSF6_chr12_69650622_+_ATP5C1_chr10_7844720_length(transcript)=921nt_BP=630nt
CTCGGAAGTGACGCAAGCGCCCCCCCACCGCCGCTAGATCCGCTGCTGCTGCCGCGGCGGGCAGACCTGCAGGAGGCGGCGGCGGCGGCG
GCGGCCGAGGCTGAAGGAAGATGGCGGACGGCGTGGACCACATAGACATTTACGCGGATGTCGGCGAAGAGTTCAACCAGGAAGCTGAAT
ATGGTGGGCATGATCAGATAGATTTGTATGACGATGTCATATCTCCATCTGCAAATAATGGAGATGCCCCAGAAGACCGAGATTACATGG
ATACTCTCCCACCAACTGTTGGTGATGATGTGGGTAAAGGAGCAGCACCAAATGTTGTCTATACATATACTGGAAAGAGAATTGCATTAT
ATATTGGAAATCTAACATGGTGGACAACAGATGAAGACTTAACTGAAGCAGTTCATTCTTTGGGAGTAAATGATATTTTGGAGATAAAAT
TTTTTGAAAATCGGGCAAATGGCCAGTCAAAGGGGTTTGCCCTTGTTGGTGTTGGATCTGAAGCATCTTCAAAAAAGTTAATGGATCTGT
TACCTAAAAGAGAACTTCATGGTCAGAATCCTGTTGTAACTCCATGCAATAAACAGTTCCTGAGTCAATTTGAAATGCAGTCCAGGAAAA
CTGAGATGATTGACAAATTGACATTGACATTCAACCGTACCCGCCAAGCTGTCATCACAAAAGAGTTGATTGAAATTATCTCTGGTGCTG
CAGCTCTGGATTAATGAAAATCAAGTTCCATCCTCAGACAAGAGGTAAAGAAGGAAAATTCAGCCAGTTGATTTTGTTTTTAGCTTACTG
CTGCCTTTGTCCGAAGAAACTGTTCCTCCATTATTTGAATTACTGAAGACAGCAAGATATTTGTAAATTATCTTAAAATAAACAACTTAA

>In-frame_ENST00000435070_ENST00000356708_TCGA-EQ-8122_CPSF6_chr12_69650622_+_ATP5C1_chr10_7844720_length(amino acids)=207AA_start in transcript=110_stop in transcript=733
MADGVDHIDIYADVGEEFNQEAEYGGHDQIDLYDDVISPSANNGDAPEDRDYMDTLPPTVGDDVGKGAAPNVVYTYTGKRIALYIGNLTW
WTTDEDLTEAVHSLGVNDILEIKFFENRANGQSKGFALVGVGSEASSKKLMDLLPKRELHGQNPVVTPCNKQFLSQFEMQSRKTEMIDKL

--------------------------------------------------------------
>In-frame_ENST00000456847_ENST00000356708_TCGA-EQ-8122_CPSF6_chr12_69650622_+_ATP5C1_chr10_7844720_length(transcript)=858nt_BP=567nt
GACCTGCAGGAGGCGGCGGCGGCGGCGGCGGCCGAGGCTGAAGGAAGATGGCGGACGGCGTGGACCACATAGACATTTACGCGGATGTCG
GCGAAGAGTTCAACCAGGAAGCTGAATATGGTGGGCATGATCAGATAGATTTGTATGACGATGTCATATCTCCATCTGCAAATAATGGAG
ATGCCCCAGAAGACCGAGATTACATGGATACTCTCCCACCAACTGTTGGTGATGATGTGGGTAAAGGAGCAGCACCAAATGTTGTCTATA
CATATACTGGAAAGAGAATTGCATTATATATTGGAAATCTAACATGGTGGACAACAGATGAAGACTTAACTGAAGCAGTTCATTCTTTGG
GAGTAAATGATATTTTGGAGATAAAATTTTTTGAAAATCGGGCAAATGGCCAGTCAAAGGGGTTTGCCCTTGTTGGTGTTGGATCTGAAG
CATCTTCAAAAAAGTTAATGGATCTGTTACCTAAAAGAGAACTTCATGGTCAGAATCCTGTTGTAACTCCATGCAATAAACAGTTCCTGA
GTCAATTTGAAATGCAGTCCAGGAAAACTGAGATGATTGACAAATTGACATTGACATTCAACCGTACCCGCCAAGCTGTCATCACAAAAG
AGTTGATTGAAATTATCTCTGGTGCTGCAGCTCTGGATTAATGAAAATCAAGTTCCATCCTCAGACAAGAGGTAAAGAAGGAAAATTCAG
CCAGTTGATTTTGTTTTTAGCTTACTGCTGCCTTTGTCCGAAGAAACTGTTCCTCCATTATTTGAATTACTGAAGACAGCAAGATATTTG

>In-frame_ENST00000456847_ENST00000356708_TCGA-EQ-8122_CPSF6_chr12_69650622_+_ATP5C1_chr10_7844720_length(amino acids)=207AA_start in transcript=47_stop in transcript=670
MADGVDHIDIYADVGEEFNQEAEYGGHDQIDLYDDVISPSANNGDAPEDRDYMDTLPPTVGDDVGKGAAPNVVYTYTGKRIALYIGNLTW
WTTDEDLTEAVHSLGVNDILEIKFFENRANGQSKGFALVGVGSEASSKKLMDLLPKRELHGQNPVVTPCNKQFLSQFEMQSRKTEMIDKL

--------------------------------------------------------------
>In-frame_ENST00000266679_ENST00000356708_TCGA-EQ-8122_CPSF6_chr12_69650622_+_ATP5C1_chr10_7844720_length(transcript)=842nt_BP=551nt
CGGCGGCGGCGGCGGCCGAGGCTGAAGGAAGATGGCGGACGGCGTGGACCACATAGACATTTACGCGGATGTCGGCGAAGAGTTCAACCA
GGAAGCTGAATATGGTGGGCATGATCAGATAGATTTGTATGACGATGTCATATCTCCATCTGCAAATAATGGAGATGCCCCAGAAGACCG
AGATTACATGGATACTCTCCCACCAACTGTTGGTGATGATGTGGGTAAAGGAGCAGCACCAAATGTTGTCTATACATATACTGGAAAGAG
AATTGCATTATATATTGGAAATCTAACATGGTGGACAACAGATGAAGACTTAACTGAAGCAGTTCATTCTTTGGGAGTAAATGATATTTT
GGAGATAAAATTTTTTGAAAATCGGGCAAATGGCCAGTCAAAGGGGTTTGCCCTTGTTGGTGTTGGATCTGAAGCATCTTCAAAAAAGTT
AATGGATCTGTTACCTAAAAGAGAACTTCATGGTCAGAATCCTGTTGTAACTCCATGCAATAAACAGTTCCTGAGTCAATTTGAAATGCA
GTCCAGGAAAACTGAGATGATTGACAAATTGACATTGACATTCAACCGTACCCGCCAAGCTGTCATCACAAAAGAGTTGATTGAAATTAT
CTCTGGTGCTGCAGCTCTGGATTAATGAAAATCAAGTTCCATCCTCAGACAAGAGGTAAAGAAGGAAAATTCAGCCAGTTGATTTTGTTT
TTAGCTTACTGCTGCCTTTGTCCGAAGAAACTGTTCCTCCATTATTTGAATTACTGAAGACAGCAAGATATTTGTAAATTATCTTAAAAT

>In-frame_ENST00000266679_ENST00000356708_TCGA-EQ-8122_CPSF6_chr12_69650622_+_ATP5C1_chr10_7844720_length(amino acids)=207AA_start in transcript=31_stop in transcript=654
MADGVDHIDIYADVGEEFNQEAEYGGHDQIDLYDDVISPSANNGDAPEDRDYMDTLPPTVGDDVGKGAAPNVVYTYTGKRIALYIGNLTW
WTTDEDLTEAVHSLGVNDILEIKFFENRANGQSKGFALVGVGSEASSKKLMDLLPKRELHGQNPVVTPCNKQFLSQFEMQSRKTEMIDKL

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

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Fusion Gene PPI Analysis for CPSF6-ATP5C1


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 CPSF6-ATP5C1


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 CPSF6-ATP5C1


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