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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: 24905

FusionGeneSummary for NSD1_FGFR4

check button Fusion gene summary
Fusion gene informationFusion gene name: NSD1_FGFR4
Fusion gene ID: 24905
HgeneTgene
Gene symbol

NSD1

FGFR4

Gene ID

64324

2264

Gene namenuclear receptor binding SET domain protein 1fibroblast growth factor receptor 4
SynonymsARA267|KMT3B|SOTOS|SOTOS1|STOCD334|JTK2|TKF
Cytomap

5q35.3

5q35.2

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specificH3-K36-HMTaseH4-K20-HMTaseNR-binding SET domain-containing proteinandrogen receptor coactivator 267 kDa proteinandrogen receptor-associated coregulator 267androgen receptor-asfibroblast growth factor receptor 4hydroxyaryl-protein kinaseprotein-tyrosine kinasetyrosine kinase related to fibroblast growth factor receptortyrosylprotein kinase
Modification date2018051920180523
UniProtAcc

Q96L73

P22455

Ensembl transtripts involved in fusion geneENST00000354179, ENST00000439151, 
ENST00000347982, ENST00000361032, 
ENST00000511258, 
ENST00000292408, 
ENST00000393648, ENST00000502906, 
ENST00000292410, ENST00000507708, 
ENST00000393637, 
Fusion gene scores* DoF score17 X 10 X 13=22101 X 1 X 1=1
# samples 201
** MAII scorelog2(20/2210*10)=-3.46597446450407
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: NSD1 [Title/Abstract] AND FGFR4 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneNSD1

GO:0045893

positive regulation of transcription, DNA-templated

11509567

TgeneFGFR4

GO:0008284

positive regulation of cell proliferation

8663044

TgeneFGFR4

GO:0008543

fibroblast growth factor receptor signaling pathway

21653700

TgeneFGFR4

GO:0018108

peptidyl-tyrosine phosphorylation

18480409|20683963

TgeneFGFR4

GO:0046777

protein autophosphorylation

20798051


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
TCGARVLIHCTCGA-2Y-A9H0-01ANSD1chr5

176563031

+FGFR4chr5

176519322

+
* 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
Frame-shiftENST00000354179ENST00000292408NSD1chr5

176563031

+FGFR4chr5

176519322

+
Frame-shiftENST00000354179ENST00000393648NSD1chr5

176563031

+FGFR4chr5

176519322

+
Frame-shiftENST00000354179ENST00000502906NSD1chr5

176563031

+FGFR4chr5

176519322

+
Frame-shiftENST00000354179ENST00000292410NSD1chr5

176563031

+FGFR4chr5

176519322

+
5CDS-intronENST00000354179ENST00000507708NSD1chr5

176563031

+FGFR4chr5

176519322

+
5CDS-intronENST00000354179ENST00000393637NSD1chr5

176563031

+FGFR4chr5

176519322

+
Frame-shiftENST00000439151ENST00000292408NSD1chr5

176563031

+FGFR4chr5

176519322

+
Frame-shiftENST00000439151ENST00000393648NSD1chr5

176563031

+FGFR4chr5

176519322

+
Frame-shiftENST00000439151ENST00000502906NSD1chr5

176563031

+FGFR4chr5

176519322

+
Frame-shiftENST00000439151ENST00000292410NSD1chr5

176563031

+FGFR4chr5

176519322

+
5CDS-intronENST00000439151ENST00000507708NSD1chr5

176563031

+FGFR4chr5

176519322

+
5CDS-intronENST00000439151ENST00000393637NSD1chr5

176563031

+FGFR4chr5

176519322

+
Frame-shiftENST00000347982ENST00000292408NSD1chr5

176563031

+FGFR4chr5

176519322

+
Frame-shiftENST00000347982ENST00000393648NSD1chr5

176563031

+FGFR4chr5

176519322

+
Frame-shiftENST00000347982ENST00000502906NSD1chr5

176563031

+FGFR4chr5

176519322

+
Frame-shiftENST00000347982ENST00000292410NSD1chr5

176563031

+FGFR4chr5

176519322

+
5CDS-intronENST00000347982ENST00000507708NSD1chr5

176563031

+FGFR4chr5

176519322

+
5CDS-intronENST00000347982ENST00000393637NSD1chr5

176563031

+FGFR4chr5

176519322

+
Frame-shiftENST00000361032ENST00000292408NSD1chr5

176563031

+FGFR4chr5

176519322

+
Frame-shiftENST00000361032ENST00000393648NSD1chr5

176563031

+FGFR4chr5

176519322

+
Frame-shiftENST00000361032ENST00000502906NSD1chr5

176563031

+FGFR4chr5

176519322

+
Frame-shiftENST00000361032ENST00000292410NSD1chr5

176563031

+FGFR4chr5

176519322

+
5CDS-intronENST00000361032ENST00000507708NSD1chr5

176563031

+FGFR4chr5

176519322

+
5CDS-intronENST00000361032ENST00000393637NSD1chr5

176563031

+FGFR4chr5

176519322

+
Frame-shiftENST00000511258ENST00000292408NSD1chr5

176563031

+FGFR4chr5

176519322

+
Frame-shiftENST00000511258ENST00000393648NSD1chr5

176563031

+FGFR4chr5

176519322

+
Frame-shiftENST00000511258ENST00000502906NSD1chr5

176563031

+FGFR4chr5

176519322

+
Frame-shiftENST00000511258ENST00000292410NSD1chr5

176563031

+FGFR4chr5

176519322

+
5CDS-intronENST00000511258ENST00000507708NSD1chr5

176563031

+FGFR4chr5

176519322

+
5CDS-intronENST00000511258ENST00000393637NSD1chr5

176563031

+FGFR4chr5

176519322

+

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FusionProtFeatures for NSD1_FGFR4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NSD1

Q96L73

FGFR4

P22455

Histone methyltransferase. Preferentially methylates'Lys-36' of histone H3 and 'Lys-20' of histone H4 (in vitro).Transcriptional intermediary factor capable of both negatively orpositively influencing transcription, depending on the cellularcontext. {ECO:0000269|PubMed:21196496}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for NSD1_FGFR4


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for NSD1_FGFR4


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
NSD1ZNF496, AR, RELA, AFF1, SIRT7, HIST4H4, TNFRSF21, RARA, RXRA, ESR1, PPARG, VDR, THRB, RORA, RORB, HNF4G, NR2F6, ESRRA, NR5A2, NR6A1, NR2F1, NR2F2, NR2E1, HIST3H3, HIST1H1B, ATRX, SNORD3A, HIST1H1D, HIST1H1C, GAR1, HIST1H3A, HIST1H4A, POLR2A, ZFY, ZBTB48, ZNF692, MECP2, TRIM25FGFR4FGF19, FGF1, FGFR4, CDK9, ANGPTL4, BLID, CASC3, DIRAS3, EPSTI1, ERRFI1, FAM84B, GLCE, MTA3, OSGIN1, PDLIM2, PSMC3IP, RASL10B, RNF20, SCGB3A1, THRSP, WHSC1L1, WIF1, FGF5, PTPN6, PTPN11, PTPN12, PTPRR, TMEM30B, TMX1, LRRIQ1, MRAP2, TNFRSF10A, FCGRT, SLC39A5, SCGB2A2, PPP3CA


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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RelatedDrugs for NSD1_FGFR4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneFGFR4P22455DB00039PaliferminFibroblast growth factor receptor 4biotechapproved
TgeneFGFR4P22455DB01109HeparinFibroblast growth factor receptor 4small moleculeapproved|investigational
TgeneFGFR4P22455DB08901PonatinibFibroblast growth factor receptor 4small moleculeapproved|investigational
TgeneFGFR4P22455DB09078LenvatinibFibroblast growth factor receptor 4small moleculeapproved|investigational

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RelatedDiseases for NSD1_FGFR4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNSD1C0175695Sotos' syndrome14CTD_human;ORPHANET;UNIPROT
HgeneNSD1C0004352Autistic Disorder1CTD_human
HgeneNSD1C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneNSD1C0265210Weaver syndrome1CTD_human;ORPHANET
HgeneNSD1C3714756Intellectual Disability1CTD_human
TgeneFGFR4C0010606Adenoid Cystic Carcinoma1CTD_human
TgeneFGFR4C0033578Prostatic Neoplasms1CTD_human
TgeneFGFR4C0035222Respiratory Distress Syndrome, Adult1CTD_human
TgeneFGFR4C0376358Malignant neoplasm of prostate1UNIPROT