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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:UVRAG-MS4A8 (FusionGDB2 ID:97133)

Fusion Gene Summary for UVRAG-MS4A8

check button Fusion gene summary
Fusion gene informationFusion gene name: UVRAG-MS4A8
Fusion gene ID: 97133
HgeneTgene
Gene symbol

UVRAG

MS4A8

Gene ID

7405

83661

Gene nameUV radiation resistance associatedmembrane spanning 4-domains A8
SynonymsDHTX|VPS38|p634SPAN4|CD20L5|MS4A4|MS4A8B
Cytomap

11q13.5

11q12.2

Type of geneprotein-codingprotein-coding
DescriptionUV radiation resistance-associated gene proteinbeclin 1 binding proteindisrupted in heterotaxymembrane-spanning 4-domains subfamily A member 8four-span transmembrane protein 4membrane-spanning 4-domains, subfamily A, member 8B
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000356136, ENST00000528420, 
ENST00000533454, ENST00000531818, 
ENST00000532130, ENST00000539288, 
ENST00000525872, ENST00000538870, 
ENST00000300226, 
Fusion gene scores* DoF score41 X 18 X 15=110702 X 2 X 2=8
# samples 492
** MAII scorelog2(49/11070*10)=-4.49772966266634
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: UVRAG [Title/Abstract] AND MS4A8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointUVRAG(75718665)-MS4A8(60470851), # samples:2
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
HgeneUVRAG

GO:0071900

regulation of protein serine/threonine kinase activity

22542840

HgeneUVRAG

GO:0097352

autophagosome maturation

28306502

HgeneUVRAG

GO:0097680

double-strand break repair via classical nonhomologous end joining

22542840


check buttonFusion gene breakpoints across UVRAG (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 MS4A8 (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
ChimerDB4SARCTCGA-3R-A8YX-01AUVRAGchr11

75718665

+MS4A8chr11

60470851

+
ChimerDB4SARCTCGA-3B-A9HQ-01AUVRAGchr11

75718665

+MS4A8chr11

60470851

+


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Fusion Gene ORF analysis for UVRAG-MS4A8

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-frameENST00000356136ENST00000300226UVRAGchr11

75718665

+MS4A8chr11

60470851

+
In-frameENST00000528420ENST00000300226UVRAGchr11

75718665

+MS4A8chr11

60470851

+
5UTR-3CDSENST00000533454ENST00000300226UVRAGchr11

75718665

+MS4A8chr11

60470851

+
5UTR-3CDSENST00000531818ENST00000300226UVRAGchr11

75718665

+MS4A8chr11

60470851

+
5UTR-3CDSENST00000532130ENST00000300226UVRAGchr11

75718665

+MS4A8chr11

60470851

+
5UTR-3CDSENST00000539288ENST00000300226UVRAGchr11

75718665

+MS4A8chr11

60470851

+
intron-3CDSENST00000525872ENST00000300226UVRAGchr11

75718665

+MS4A8chr11

60470851

+
intron-3CDSENST00000538870ENST00000300226UVRAGchr11

75718665

+MS4A8chr11

60470851

+

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)
ENST00000356136UVRAGchr1175718665+ENST00000300226MS4A8chr1160470851+217112401631773536
ENST00000528420UVRAGchr1175718665+ENST00000300226MS4A8chr1160470851+1912981961514472

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
ENST00000356136ENST00000300226UVRAGchr1175718665+MS4A8chr1160470851+0.0037886720.9962113
ENST00000528420ENST00000300226UVRAGchr1175718665+MS4A8chr1160470851+0.003824990.99617493

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Fusion Genomic Features for UVRAG-MS4A8


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)
UVRAGchr1175718665+MS4A8chr1160470850+9.13E-080.9999999
UVRAGchr1175718665+MS4A8chr1160470850+9.13E-080.9999999
UVRAGchr1175718665+MS4A8chr1160470850+9.13E-080.9999999
UVRAGchr1175718665+MS4A8chr1160470850+9.13E-080.9999999

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 UVRAG-MS4A8


check button Go to

FGviewer for the breakpoints of chr11:75718665-chr11:60470851

.
- 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
..
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: 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
HgeneUVRAGchr11:75718665chr11:60470851ENST00000356136+1015224_305333.0700.0Coiled coilOntology_term=ECO:0000255
HgeneUVRAGchr11:75718665chr11:60470851ENST00000356136+101523_149333.0700.0DomainC2
TgeneMS4A8chr11:75718665chr11:60470851ENST0000030022617120_13673.0251.0Topological domainCytoplasmic
TgeneMS4A8chr11:75718665chr11:60470851ENST0000030022617158_18073.0251.0Topological domainExtracellular
TgeneMS4A8chr11:75718665chr11:60470851ENST0000030022617202_25073.0251.0Topological domainCytoplasmic
TgeneMS4A8chr11:75718665chr11:60470851ENST000003002261796_9873.0251.0Topological domainExtracellular
TgeneMS4A8chr11:75718665chr11:60470851ENST0000030022617137_15773.0251.0TransmembraneHelical
TgeneMS4A8chr11:75718665chr11:60470851ENST0000030022617181_20173.0251.0TransmembraneHelical
TgeneMS4A8chr11:75718665chr11:60470851ENST000003002261775_9573.0251.0TransmembraneHelical
TgeneMS4A8chr11:75718665chr11:60470851ENST000003002261799_11973.0251.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneMS4A8chr11:75718665chr11:60470851ENST00000300226171_7473.0251.0Topological domainCytoplasmic


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Fusion Gene Sequence for UVRAG-MS4A8


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_ENST00000356136_ENST00000300226_TCGA-3R-A8YX-01A_UVRAG_chr11_75718665_+_MS4A8_chr11_60470851_length(transcript)=2171nt_BP=1240nt
AATGAGCGCTCCGGGTCTCAGCGGGGTGGAGGGGTTGCACTGCGGTAATATGGCTCTTCCTTAGCCAGCGGCGGCAACGGCGGCAGCGGC
GGCAGCGGCGGCGGCTACTGTCTGGGCTGAGCAGTAGTGCCTCTCGGGTGGCGGGTTTCTAGGCTGCAGGGGCTTGGTAGGTGGTGGCAA
GGGGGCGGCGGCGGATGCCGGAAGAGTGCCCGCCCCGCCGCTTGGCGGCCCCTGGATCGAGATGAGCGCCTCCGCGTCGGTCGGGGGCCC
CGTCCCCCAGCCACCCCCGGGCCCGGCCGCTGCTCTGCCTCCCGGTTCTGCCGCGCGGGCCCTGCATGTGGAGCTGCCGTCTCAGCAGCG
GCGTCTTCGACATCTTCGGAACATTGCTGCCCGGAACATTGTTAATAGAAATGGCCATCAGCTCCTTGATACCTACTTTACACTTCACTT
GTGTAGTACTGAAAAGATATATAAAGAATTTTATAGAAGTGAAGTGATTAAGAATTCCTTGAATCCCACGTGGCGAAGTCTCGATTTTGG
AATTATGCCAGACCGTCTTGATACATCTGTGTCTTGTTTCGTGGTGAAGATATGGGGTGGAAAGGAGAACATCTACCAGCTGTTGATTGA
ATGGAAAGTCTGTTTGGATGGGCTGAAATACTTGGGTCAGCAGATTCATGCCCGAAACCAAAATGAAATAATTTTTGGGCTGAATGATGG
ATACTATGGTGCTCCATTTGAACATAAGGGTTATTCAAATGCTCAGAAGACTATTCTTCTGCAGGTGGATCAGAACTGTGTTCGCAATTC
TTACGATGTCTTCTCTTTGCTACGGCTTCATAGAGCCCAGTGTGCAATTAAACAGACTCAGGTAACTGTTCAGAAAATTGGAAAGGAAAT
TGAAGAAAAACTAAGACTCACATCTACAAGCAATGAACTGAAAAAAAAAAGTGAATGCCTGCAGTTAAAAATTTTGGTGCTTCAGAATGA
ACTGGAACGGCAGAAGAAAGCTTTGGGACGGGAGGTGGCATTACTGCATAAGCAACAAATTGCATTACAAGACAAAGGAAGTGCATTTTC
AGCTGAGCACCTCAAACTTCAACTCCAGAAGGAATCCCTAAATGAGCTGAGGAAGGAGTGCACTGCAAAAAGAGAACTCTTCTTGAAGAC
TAATGCTCAGTTGACAATTCGTTGCAGGCAGTTACTCTCTGAGCTTTCCTACATTTACCCTATTGATTTGGCCATCCAGATCATCATTGG
CCTGGCTCACATCGGCCTCGGCTCCATCATGGCGACGGTTCTCGTAGGGGAATACCTGTCTATTTCATTCTACGGAGGCTTTCCCTTCTG
GGGAGGCTTGTGGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGCTGTCTGGCAGTTTGGG
CTTGAACATCGTCAGTGCAATCTGCTCTGCAGTTGGAGTCATACTCTTCATCACAGATCTAAGTATTCCCCACCCATATGCCTACCCCGA
CTATTATCCTTACGCCTGGGGTGTGAACCCTGGAATGGCGATTTCTGGCGTGCTGCTGGTCTTCTGCCTCCTGGAGTTTGGCATCGCATG
CGCATCTTCCCACTTTGGCTGCCAGTTGGTCTGCTGTCAATCAAGCAATGTGAGTGTCATCTATCCAAACATCTATGCAGCAAACCCAGT
GATCACCCCAGAACCGGTGACCTCACCACCAAGTTATTCCAGTGAGATCCAAGCAAATAAGTAAGGCTACAGATTCTGGAAGCATCTTTC
ACTGGGACCAAAAGAAGTCCTCCTCCCTTTCTGGGCTTCCATAACCCAGGTCGTTCCTGTTCTGACAGCTGAGGAAACGTCTCTCCCACT
GTTTGTACTCTCACCTTCATTCTTCAATTCAGTCTAGGAAACCATGCTGTTTCTCTATCAAGAAGAAGACAGAGATTTTAAACAGATGTT
AACCAAGAGGGACTCCCTAGGGCACATGCATCAGCACATATGTGGGCATCCAGCCTCTGGGGCCTTGGCACACACACATTCGTGTGCTCT
GCTGCATGTGAGCTTGTGGGTTAGAGGAACAAATATCTAGACATTCAATCTTCACTCTTTCAATTGTGCATTCATTTAATAAATAGATAC

>In-frame_ENST00000356136_ENST00000300226_TCGA-3R-A8YX-01A_UVRAG_chr11_75718665_+_MS4A8_chr11_60470851_length(amino acids)=536AA_start in transcript=163_stop in transcript=1773
MVGGGKGAAADAGRVPAPPLGGPWIEMSASASVGGPVPQPPPGPAAALPPGSAARALHVELPSQQRRLRHLRNIAARNIVNRNGHQLLDT
YFTLHLCSTEKIYKEFYRSEVIKNSLNPTWRSLDFGIMPDRLDTSVSCFVVKIWGGKENIYQLLIEWKVCLDGLKYLGQQIHARNQNEII
FGLNDGYYGAPFEHKGYSNAQKTILLQVDQNCVRNSYDVFSLLRLHRAQCAIKQTQVTVQKIGKEIEEKLRLTSTSNELKKKSECLQLKI
LVLQNELERQKKALGREVALLHKQQIALQDKGSAFSAEHLKLQLQKESLNELRKECTAKRELFLKTNAQLTIRCRQLLSELSYIYPIDLA
IQIIIGLAHIGLGSIMATVLVGEYLSISFYGGFPFWGGLWFIISGSLSVAAENQPYSYCLLSGSLGLNIVSAICSAVGVILFITDLSIPH

--------------------------------------------------------------
>In-frame_ENST00000528420_ENST00000300226_TCGA-3R-A8YX-01A_UVRAG_chr11_75718665_+_MS4A8_chr11_60470851_length(transcript)=1912nt_BP=981nt
AGTGCTCAGCTCCCTTGCCATGCGATACCCTGCAAGTCCTCACCAGCAAAAAGGCTCTCACCAGAGGCTGCCCCTCGGCCTGTGTTATCA
GATTTTTTGCGGCGTCTTCGACATCTTCGGAACATTGCTGCCCGGAACATTGTTAATAGAAATGGCCATCAGCTCCTTGATACCTACTTT
ACACTTCACTTGTGTAGTACTGAAAAGATATATAAAGAATTTTATAGAAGTGAAGTGATTAAGAATTCCTTGAATCCCACGTGGCGAAGT
CTCGATTTTGGAATTATGCCAGACCGTCTTGATACATCTGTGTCTTGTTTCGTGGTGAAGATATGGGGTGGAAAGGAGAACATCTACCAG
CTGTTGATTGAATGGAAAGTCTGTTTGGATGGGCTGAAATACTTGGGTCAGCAGATTCATGCCCGAAACCAAAATGAAATAATTTTTGGG
CTGAATGATGGATACTATGGTGCTCCATTTGAACATAAGGGTTATTCAAATGCTCAGAAGACTATTCTTCTGCAGGTGGATCAGAACTGT
GTTCGCAATTCTTACGATGTCTTCTCTTTGCTACGGCTTCATAGAGCCCAGTGTGCAATTAAACAGACTCAGGTAACTGTTCAGAAAATT
GGAAAGGAAATTGAAGAAAAACTAAGACTCACATCTACAAGCAATGAACTGAAAAAAAAAAGTGAATGCCTGCAGTTAAAAATTTTGGTG
CTTCAGAATGAACTGGAACGGCAGAAGAAAGCTTTGGGACGGGAGGTGGCATTACTGCATAAGCAACAAATTGCATTACAAGACAAAGGA
AGTGCATTTTCAGCTGAGCACCTCAAACTTCAACTCCAGAAGGAATCCCTAAATGAGCTGAGGAAGGAGTGCACTGCAAAAAGAGAACTC
TTCTTGAAGACTAATGCTCAGTTGACAATTCGTTGCAGGCAGTTACTCTCTGAGCTTTCCTACATTTACCCTATTGATTTGGCCATCCAG
ATCATCATTGGCCTGGCTCACATCGGCCTCGGCTCCATCATGGCGACGGTTCTCGTAGGGGAATACCTGTCTATTTCATTCTACGGAGGC
TTTCCCTTCTGGGGAGGCTTGTGGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGCTGTCT
GGCAGTTTGGGCTTGAACATCGTCAGTGCAATCTGCTCTGCAGTTGGAGTCATACTCTTCATCACAGATCTAAGTATTCCCCACCCATAT
GCCTACCCCGACTATTATCCTTACGCCTGGGGTGTGAACCCTGGAATGGCGATTTCTGGCGTGCTGCTGGTCTTCTGCCTCCTGGAGTTT
GGCATCGCATGCGCATCTTCCCACTTTGGCTGCCAGTTGGTCTGCTGTCAATCAAGCAATGTGAGTGTCATCTATCCAAACATCTATGCA
GCAAACCCAGTGATCACCCCAGAACCGGTGACCTCACCACCAAGTTATTCCAGTGAGATCCAAGCAAATAAGTAAGGCTACAGATTCTGG
AAGCATCTTTCACTGGGACCAAAAGAAGTCCTCCTCCCTTTCTGGGCTTCCATAACCCAGGTCGTTCCTGTTCTGACAGCTGAGGAAACG
TCTCTCCCACTGTTTGTACTCTCACCTTCATTCTTCAATTCAGTCTAGGAAACCATGCTGTTTCTCTATCAAGAAGAAGACAGAGATTTT
AAACAGATGTTAACCAAGAGGGACTCCCTAGGGCACATGCATCAGCACATATGTGGGCATCCAGCCTCTGGGGCCTTGGCACACACACAT
TCGTGTGCTCTGCTGCATGTGAGCTTGTGGGTTAGAGGAACAAATATCTAGACATTCAATCTTCACTCTTTCAATTGTGCATTCATTTAA

>In-frame_ENST00000528420_ENST00000300226_TCGA-3R-A8YX-01A_UVRAG_chr11_75718665_+_MS4A8_chr11_60470851_length(amino acids)=472AA_start in transcript=96_stop in transcript=1514
MRRLRHLRNIAARNIVNRNGHQLLDTYFTLHLCSTEKIYKEFYRSEVIKNSLNPTWRSLDFGIMPDRLDTSVSCFVVKIWGGKENIYQLL
IEWKVCLDGLKYLGQQIHARNQNEIIFGLNDGYYGAPFEHKGYSNAQKTILLQVDQNCVRNSYDVFSLLRLHRAQCAIKQTQVTVQKIGK
EIEEKLRLTSTSNELKKKSECLQLKILVLQNELERQKKALGREVALLHKQQIALQDKGSAFSAEHLKLQLQKESLNELRKECTAKRELFL
KTNAQLTIRCRQLLSELSYIYPIDLAIQIIIGLAHIGLGSIMATVLVGEYLSISFYGGFPFWGGLWFIISGSLSVAAENQPYSYCLLSGS
LGLNIVSAICSAVGVILFITDLSIPHPYAYPDYYPYAWGVNPGMAISGVLLVFCLLEFGIACASSHFGCQLVCCQSSNVSVIYPNIYAAN

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

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Fusion Gene PPI Analysis for UVRAG-MS4A8


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 UVRAG-MS4A8


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 UVRAG-MS4A8


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