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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: 24900

FusionGeneSummary for NSD1_CDH23

check button Fusion gene summary
Fusion gene informationFusion gene name: NSD1_CDH23
Fusion gene ID: 24900
HgeneTgene
Gene symbol

NSD1

CDH23

Gene ID

64324

64072

Gene namenuclear receptor binding SET domain protein 1cadherin related 23
SynonymsARA267|KMT3B|SOTOS|SOTOS1|STOCDHR23|PITA5|USH1D
Cytomap

5q35.3

10q22.1

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-ascadherin-23cadherin-like 23cadherin-related family member 23otocadherin
Modification date2018051920180519
UniProtAcc

Q96L73

Q9H251

Ensembl transtripts involved in fusion geneENST00000354179, ENST00000439151, 
ENST00000347982, ENST00000361032, 
ENST00000511258, 
ENST00000398842, 
ENST00000398809, ENST00000461841, 
ENST00000299366, ENST00000224721, 
ENST00000398788, ENST00000475158, 
Fusion gene scores* DoF score17 X 10 X 13=221010 X 7 X 5=350
# samples 2010
** MAII scorelog2(20/2210*10)=-3.46597446450407
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/350*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NSD1 [Title/Abstract] AND CDH23 [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


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
TCGALDBRCATCGA-AN-A0FJ-01ANSD1chr5

176563031

+CDH23chr10

73434869

+
* 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
5CDS-intronENST00000354179ENST00000398842NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000354179ENST00000398809NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000354179ENST00000461841NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000354179ENST00000299366NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000354179ENST00000224721NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000354179ENST00000398788NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000354179ENST00000475158NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000439151ENST00000398842NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000439151ENST00000398809NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000439151ENST00000461841NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000439151ENST00000299366NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000439151ENST00000224721NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000439151ENST00000398788NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000439151ENST00000475158NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000347982ENST00000398842NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000347982ENST00000398809NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000347982ENST00000461841NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000347982ENST00000299366NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000347982ENST00000224721NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000347982ENST00000398788NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000347982ENST00000475158NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000361032ENST00000398842NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000361032ENST00000398809NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000361032ENST00000461841NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000361032ENST00000299366NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000361032ENST00000224721NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000361032ENST00000398788NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000361032ENST00000475158NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000511258ENST00000398842NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000511258ENST00000398809NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000511258ENST00000461841NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000511258ENST00000299366NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000511258ENST00000224721NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000511258ENST00000398788NSD1chr5

176563031

+CDH23chr10

73434869

+
5CDS-intronENST00000511258ENST00000475158NSD1chr5

176563031

+CDH23chr10

73434869

+

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FusionProtFeatures for NSD1_CDH23


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

Q96L73

CDH23

Q9H251

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_CDH23


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_CDH23


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, TRIM25CDH23USH1C, LYN, CLK1, PPME1, GOPC, NCKAP1, ABI1, NXN, WASF1, CYFIP1, SLC9A3R2


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_CDH23


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 NSD1_CDH23


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
TgeneCDH23C1832394Deafness, Autosomal Recessive 128CTD_human;UNIPROT
TgeneCDH23C1832845USHER SYNDROME, TYPE ID6UNIPROT
TgeneCDH23C0032273Pneumoconiosis1CTD_human