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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 31047

FusionGeneSummary for RFWD2_MSH4

check button Fusion gene summary
Fusion gene informationFusion gene name: RFWD2_MSH4
Fusion gene ID: 31047
HgeneTgene
Gene symbol

RFWD2

MSH4

Gene ID

4438

Gene namemutS homolog 4
Synonyms-
Cytomap

1p31.1

Type of geneprotein-coding
DescriptionmutS protein homolog 4hMSH4
Modification date20180523
UniProtAcc

O15457

Ensembl transtripts involved in fusion geneENST00000367669, ENST00000308769, 
ENST00000263187, 
Fusion gene scores* DoF score8 X 6 X 6=2881 X 1 X 1=1
# samples 81
** MAII scorelog2(8/288*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: RFWD2 [Title/Abstract] AND MSH4 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
* 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

check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVPRADTCGA-YL-A8SF-01ARFWD2chr1

176118142

-MSH4chr1

76378381

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-frameENST00000367669ENST00000263187RFWD2chr1

176118142

-MSH4chr1

76378381

+
In-frameENST00000308769ENST00000263187RFWD2chr1

176118142

-MSH4chr1

76378381

+

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FusionProtFeatures for RFWD2_MSH4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RFWD2

MSH4

O15457

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Involved in meiotic recombination. Required forreciprocal recombination and proper segregation of homologouschromosomes at meiosis.

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
HgeneRFWD2chr1:176118142chr1:76378381ENST00000308769-6192_110273708Compositional biasNote=Ser-rich
HgeneRFWD2chr1:176118142chr1:76378381ENST00000367669-6202_110277732Compositional biasNote=Ser-rich
HgeneRFWD2chr1:176118142chr1:76378381ENST00000308769-619109_113273708MotifNote=Nuclear localization signal 1
HgeneRFWD2chr1:176118142chr1:76378381ENST00000308769-619195_206273708MotifNote=Nuclear localization signal 2
HgeneRFWD2chr1:176118142chr1:76378381ENST00000308769-619235_245273708MotifNuclear export signal
HgeneRFWD2chr1:176118142chr1:76378381ENST00000367669-620109_113277732MotifNote=Nuclear localization signal 1
HgeneRFWD2chr1:176118142chr1:76378381ENST00000367669-620195_206277732MotifNote=Nuclear localization signal 2
HgeneRFWD2chr1:176118142chr1:76378381ENST00000367669-620235_245277732MotifNuclear export signal
HgeneRFWD2chr1:176118142chr1:76378381ENST00000308769-619136_174273708Zinc fingerRING-type
HgeneRFWD2chr1:176118142chr1:76378381ENST00000367669-620136_174277732Zinc fingerRING-type

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRFWD2chr1:176118142chr1:76378381ENST00000308769-619233_301273708Coiled coilOntology_term=ECO:0000255
HgeneRFWD2chr1:176118142chr1:76378381ENST00000367669-620233_301277732Coiled coilOntology_term=ECO:0000255
HgeneRFWD2chr1:176118142chr1:76378381ENST00000308769-619419_458273708RepeatNote=WD 1
HgeneRFWD2chr1:176118142chr1:76378381ENST00000308769-619468_508273708RepeatNote=WD 2
HgeneRFWD2chr1:176118142chr1:76378381ENST00000308769-619511_551273708RepeatNote=WD 3
HgeneRFWD2chr1:176118142chr1:76378381ENST00000308769-619553_593273708RepeatNote=WD 4
HgeneRFWD2chr1:176118142chr1:76378381ENST00000308769-619597_635273708RepeatNote=WD 5
HgeneRFWD2chr1:176118142chr1:76378381ENST00000308769-619638_677273708RepeatNote=WD 6
HgeneRFWD2chr1:176118142chr1:76378381ENST00000308769-619691_729273708RepeatNote=WD 7
HgeneRFWD2chr1:176118142chr1:76378381ENST00000367669-620419_458277732RepeatNote=WD 1
HgeneRFWD2chr1:176118142chr1:76378381ENST00000367669-620468_508277732RepeatNote=WD 2
HgeneRFWD2chr1:176118142chr1:76378381ENST00000367669-620511_551277732RepeatNote=WD 3
HgeneRFWD2chr1:176118142chr1:76378381ENST00000367669-620553_593277732RepeatNote=WD 4
HgeneRFWD2chr1:176118142chr1:76378381ENST00000367669-620597_635277732RepeatNote=WD 5
HgeneRFWD2chr1:176118142chr1:76378381ENST00000367669-620638_677277732RepeatNote=WD 6
HgeneRFWD2chr1:176118142chr1:76378381ENST00000367669-620691_729277732RepeatNote=WD 7
TgeneMSH4chr1:176118142chr1:76378381ENST00000263187+1820680_687873937Nucleotide bindingATP


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FusionGeneSequence for RFWD2_MSH4


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_RFWD2_ENST00000367669_chr1_176118142_-_MSH4_ENST00000263187_chr1_76378381_+_341aa
MSGSRQAGSGSAGTSPGSSAASSVTSASSSLSSSPSPPSVAVSAAALVSGGVAQAAGSGGLGGPVRPVLVAPAVSGSGGGAVSTGLSRHS
CAARPSAGVGGSSSSLGSGSRKRPLLAPLCNGLINSYEDKSNDFVCPICFDMIEEAYMTKCGHSFCYKCIHQSLEDNNRCPKCNYVVDNI
DHLYPNFLVNELILKQKQRFEEKRFKLDHSVSSTNGHRWQIFQDWLGTDQDNLDLANVNLMLELLVQKKKQLEAESHAAQLQILMEFLKV

>In-frame_RFWD2_ENST00000308769_chr1_176118142_-_MSH4_ENST00000263187_chr1_76378381_+_337aa
MSGSRQAGSGSAGTSPGSSAASSVTSASSSLSSSPSPPSVAVSAAALVSGGVAQAAGSGGLGGPVRPVLVAPAVSGSGGGAVSTGLSRHS
CAARPSAGVGGSSSSLGSGSRKRPLLAPLCNGLINSYEDKSNDFVCPICFDMIEEAYMTKCGHSFCYKCIHQSLEDNNRCPKCNYVVDNI
DHLYPNFLVNELILKQKQRFEEKRFKLDHSNGHRWQIFQDWLGTDQDNLDLANVNLMLELLVQKKKQLEAESHAAQLQILMEFLKVARRN


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_RFWD2_ENST00000367669_chr1_176118142_-_MSH4_ENST00000263187_chr1_76378381_+_1023nt
ATGTCTGGTAGCCGCCAGGCCGGGTCGGGCTCCGCTGGGACAAGCCCCGGGTCCTCGGCGGCCTCCTCGGTGACTTCCGCCTCCTCGTCT
TTATCCTCTTCCCCGTCGCCGCCTTCCGTGGCGGTTTCGGCGGCAGCGCTGGTGTCCGGCGGGGTGGCCCAGGCCGCCGGCTCGGGCGGC
CTCGGGGGCCCGGTGCGGCCTGTGTTGGTGGCGCCCGCCGTATCGGGTAGCGGCGGCGGGGCGGTGTCCACGGGCCTGTCCCGGCACAGC
TGCGCGGCCAGGCCCAGCGCCGGCGTAGGAGGCAGCAGCTCCAGCCTAGGCAGCGGCAGCAGGAAGCGACCTCTCCTCGCCCCCCTCTGC
AACGGGCTCATCAACTCCTACGAGGACAAAAGCAACGACTTCGTATGCCCCATCTGCTTTGATATGATTGAAGAAGCATACATGACAAAA
TGTGGCCACAGCTTTTGCTACAAGTGTATTCATCAGAGTTTGGAGGACAATAATAGATGTCCCAAGTGTAACTATGTTGTGGACAATATT
GACCATCTGTATCCTAATTTCTTGGTGAATGAACTCATTCTTAAACAGAAGCAAAGATTTGAGGAAAAGAGGTTCAAATTGGACCACTCA
GTGAGTAGCACCAATGGCCACAGGTGGCAGATATTTCAAGATTGGTTGGGAACTGACCAAGATAACCTTGATTTGGCCAATGTCAATCTT
ATGTTGGAGTTACTAGTGCAGAAGAAGAAACAACTGGAAGCAGAATCACATGCAGCCCAACTACAGATTCTTATGGAATTCCTCAAGGTT
GCAAGAAGAAATAAGAGAGAGCAAAACCAAAGGAGTACCCCTGAGATGGAAAGACAGAGAGCTGTGTACCATCTAGCCACTAGGCTTGTT
CAAACTGCTCGAAACTCTCAATTGGATCCAGACAGTTTACGAATATATTTAAGTAACCTCAAGAAGAAGTACAAAGAAGATTTTCCCAGG

>In-frame_RFWD2_ENST00000308769_chr1_176118142_-_MSH4_ENST00000263187_chr1_76378381_+_1011nt
ATGTCTGGTAGCCGCCAGGCCGGGTCGGGCTCCGCTGGGACAAGCCCCGGGTCCTCGGCGGCCTCCTCGGTGACTTCCGCCTCCTCGTCT
TTATCCTCTTCCCCGTCGCCGCCTTCCGTGGCGGTTTCGGCGGCAGCGCTGGTGTCCGGCGGGGTGGCCCAGGCCGCCGGCTCGGGCGGC
CTCGGGGGCCCGGTGCGGCCTGTGTTGGTGGCGCCCGCCGTATCGGGTAGCGGCGGCGGGGCGGTGTCCACGGGCCTGTCCCGGCACAGC
TGCGCGGCCAGGCCCAGCGCCGGCGTAGGAGGCAGCAGCTCCAGCCTAGGCAGCGGCAGCAGGAAGCGACCTCTCCTCGCCCCCCTCTGC
AACGGGCTCATCAACTCCTACGAGGACAAAAGCAACGACTTCGTATGCCCCATCTGCTTTGATATGATTGAAGAAGCATACATGACAAAA
TGTGGCCACAGCTTTTGCTACAAGTGTATTCATCAGAGTTTGGAGGACAATAATAGATGTCCCAAGTGTAACTATGTTGTGGACAATATT
GACCATCTGTATCCTAATTTCTTGGTGAATGAACTCATTCTTAAACAGAAGCAAAGATTTGAGGAAAAGAGGTTCAAATTGGACCACTCA
AATGGCCACAGGTGGCAGATATTTCAAGATTGGTTGGGAACTGACCAAGATAACCTTGATTTGGCCAATGTCAATCTTATGTTGGAGTTA
CTAGTGCAGAAGAAGAAACAACTGGAAGCAGAATCACATGCAGCCCAACTACAGATTCTTATGGAATTCCTCAAGGTTGCAAGAAGAAAT
AAGAGAGAGCAAAACCAAAGGAGTACCCCTGAGATGGAAAGACAGAGAGCTGTGTACCATCTAGCCACTAGGCTTGTTCAAACTGCTCGA
AACTCTCAATTGGATCCAGACAGTTTACGAATATATTTAAGTAACCTCAAGAAGAAGTACAAAGAAGATTTTCCCAGGACTGAACAAGTT


* Fusion transcript sequences (Full-length transcript).
>In-frame_RFWD2_ENST00000367669_chr1_176118142_-_MSH4_ENST00000263187_chr1_76378381_+_1889nt
CACCTATACCATTCATTCCAGTCTCCTCAATTCTTTCACTGTATTAAGACGGCCTGCCCTCTGGCACGTTTTCTGGAACGAAAGCGGCTT
GGGACAGACAGACTCCCTTCGCCAGGGAGCCCCGACCCCGAGGGCGCGCCCTGAGCGTCTGAGCGCAGCCCCGCTGCGTCCCCAGTTGTA
TCCCCCGCCACGCCCGCCTCTTCCGCCGCTCGCGCGCGCGCGCACGGCCGGCCACGGCGCGCCGGGGTTGGCTGCTACAGGGACCGCGGT
GGCGGCGGCGGCCTCGACAGCGGTAGTGCCTTCTACTCCGCTTTTTTAGTTTCCTCCGCCCCCTCCCGTGGGACGCTGTTGTGTGGCTGC
CTTAAAAAAAAACGCAACTTTATTGTTCCTCAGCCCCACCTCCGGCTCGGCGGGCGTCCTCAGGATGCACTGAGGCTGAGGGGAGGGGAG
GCGGCGGAGGGTCGAGGTCGCGGTCCCTCTCCTCCGAGCGCCCGGCTGGAGGGGAGGGAGTCACGATGTCTGGTAGCCGCCAGGCCGGGT
CGGGCTCCGCTGGGACAAGCCCCGGGTCCTCGGCGGCCTCCTCGGTGACTTCCGCCTCCTCGTCTTTATCCTCTTCCCCGTCGCCGCCTT
CCGTGGCGGTTTCGGCGGCAGCGCTGGTGTCCGGCGGGGTGGCCCAGGCCGCCGGCTCGGGCGGCCTCGGGGGCCCGGTGCGGCCTGTGT
TGGTGGCGCCCGCCGTATCGGGTAGCGGCGGCGGGGCGGTGTCCACGGGCCTGTCCCGGCACAGCTGCGCGGCCAGGCCCAGCGCCGGCG
TAGGAGGCAGCAGCTCCAGCCTAGGCAGCGGCAGCAGGAAGCGACCTCTCCTCGCCCCCCTCTGCAACGGGCTCATCAACTCCTACGAGG
ACAAAAGCAACGACTTCGTATGCCCCATCTGCTTTGATATGATTGAAGAAGCATACATGACAAAATGTGGCCACAGCTTTTGCTACAAGT
GTATTCATCAGAGTTTGGAGGACAATAATAGATGTCCCAAGTGTAACTATGTTGTGGACAATATTGACCATCTGTATCCTAATTTCTTGG
TGAATGAACTCATTCTTAAACAGAAGCAAAGATTTGAGGAAAAGAGGTTCAAATTGGACCACTCAGTGAGTAGCACCAATGGCCACAGGT
GGCAGATATTTCAAGATTGGTTGGGAACTGACCAAGATAACCTTGATTTGGCCAATGTCAATCTTATGTTGGAGTTACTAGTGCAGAAGA
AGAAACAACTGGAAGCAGAATCACATGCAGCCCAACTACAGATTCTTATGGAATTCCTCAAGGTTGCAAGAAGAAATAAGAGAGAGCAAA
ACCAAAGGAGTACCCCTGAGATGGAAAGACAGAGAGCTGTGTACCATCTAGCCACTAGGCTTGTTCAAACTGCTCGAAACTCTCAATTGG
ATCCAGACAGTTTACGAATATATTTAAGTAACCTCAAGAAGAAGTACAAAGAAGATTTTCCCAGGACTGAACAAGTTCCAGAAAAGACTG
AAGAATAATCACAATTCTAATGTAATAATATATCTTAATTCAAGGAACCTAGAATTTATTTTTCTCCTTAGAGATAAGGAAAATAACATT
TGCCAAATTTCATATTTTAATTGAAAATTACATTATATTAACATCACAATTGTCATCTATATATTCTATATGAAAAATATTTATTATAAC
TTAACAAATGAGAACTACTTAAAGGAATGGTTTTTATGTTAGGAGAAAATACAATACACCACTTTTTTCTCACAAAAATTCACATTATTA

>In-frame_RFWD2_ENST00000308769_chr1_176118142_-_MSH4_ENST00000263187_chr1_76378381_+_1362nt
ATGTCTGGTAGCCGCCAGGCCGGGTCGGGCTCCGCTGGGACAAGCCCCGGGTCCTCGGCGGCCTCCTCGGTGACTTCCGCCTCCTCGTCT
TTATCCTCTTCCCCGTCGCCGCCTTCCGTGGCGGTTTCGGCGGCAGCGCTGGTGTCCGGCGGGGTGGCCCAGGCCGCCGGCTCGGGCGGC
CTCGGGGGCCCGGTGCGGCCTGTGTTGGTGGCGCCCGCCGTATCGGGTAGCGGCGGCGGGGCGGTGTCCACGGGCCTGTCCCGGCACAGC
TGCGCGGCCAGGCCCAGCGCCGGCGTAGGAGGCAGCAGCTCCAGCCTAGGCAGCGGCAGCAGGAAGCGACCTCTCCTCGCCCCCCTCTGC
AACGGGCTCATCAACTCCTACGAGGACAAAAGCAACGACTTCGTATGCCCCATCTGCTTTGATATGATTGAAGAAGCATACATGACAAAA
TGTGGCCACAGCTTTTGCTACAAGTGTATTCATCAGAGTTTGGAGGACAATAATAGATGTCCCAAGTGTAACTATGTTGTGGACAATATT
GACCATCTGTATCCTAATTTCTTGGTGAATGAACTCATTCTTAAACAGAAGCAAAGATTTGAGGAAAAGAGGTTCAAATTGGACCACTCA
AATGGCCACAGGTGGCAGATATTTCAAGATTGGTTGGGAACTGACCAAGATAACCTTGATTTGGCCAATGTCAATCTTATGTTGGAGTTA
CTAGTGCAGAAGAAGAAACAACTGGAAGCAGAATCACATGCAGCCCAACTACAGATTCTTATGGAATTCCTCAAGGTTGCAAGAAGAAAT
AAGAGAGAGCAAAACCAAAGGAGTACCCCTGAGATGGAAAGACAGAGAGCTGTGTACCATCTAGCCACTAGGCTTGTTCAAACTGCTCGA
AACTCTCAATTGGATCCAGACAGTTTACGAATATATTTAAGTAACCTCAAGAAGAAGTACAAAGAAGATTTTCCCAGGACTGAACAAGTT
CCAGAAAAGACTGAAGAATAATCACAATTCTAATGTAATAATATATCTTAATTCAAGGAACCTAGAATTTATTTTTCTCCTTAGAGATAA
GGAAAATAACATTTGCCAAATTTCATATTTTAATTGAAAATTACATTATATTAACATCACAATTGTCATCTATATATTCTATATGAAAAA
TATTTATTATAACTTAACAAATGAGAACTACTTAAAGGAATGGTTTTTATGTTAGGAGAAAATACAATACACCACTTTTTTCTCACAAAA
ATTCACATTATTAAGACCTAAGTTCATTTATACTTACAAGTTATAGTTTAAAATATTATTGTAAATACCCTAGTTTAATAAACACCTTTC


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FusionGenePPI for RFWD2_MSH4


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
RFWD2DET1, DDB1, CUL4A, RBX1, JUN, RFWD2, JUND, FOXO1, CRTC2, TP53, HSPA8, HSPA6, HSPA2, CCT3, TCP1, CCT6A, CCT5, CCT8, CCT7, CCT4, CCT2, CUL4B, WDR5, COPS2, COPS8, ETV5, ETV1, ETV4, MDM2, MDM4, RCHY1, YWHAZ, YWHAB, TRIB3, ELAVL1, MVP, CUL3, LRR1, DDA1, COPS3, COPS4, COPS5, COPS6, COPS7A, COPS7B, CUL1, SKP1, CUL2, TCEB2, BTBD2, KLHL42, DDB2, ERCC8, VPRBP, DCAF11, UBE2D2, PTPN11, REG1A, RB1CC1, SFN, UBE2D1, PTPN1, PARP4, TRIB1, JUNB, ETS2, ETS1, TRIB2, ZNF397, DMC1, FOSL2, FOS, STK40, CDKN1B, ATF6, STAT3, SEPSECS, SPOP, FAM120B, PPP2R2D, AGGF1, TAX1BP1, JPH1, TSKS, NFIL3, PPP2CA, CEP164, KHDRBS2, TINAG, CCT6B, ZNF263, PNPLA2, TRIM25MSH4VBP1, MSH5, MLH1, MLH3, RAD51, RPA1, GPS2, VCP, VHL, EIF3F


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
HgeneRFWD2chr1:176118142chr1:76378381ENST00000308769-619643_645273708TRIB1
HgeneRFWD2chr1:176118142chr1:76378381ENST00000367669-620643_645277732TRIB1


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for RFWD2_MSH4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for RFWD2_MSH4


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