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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: 4771

FusionGeneSummary for C17orf80_MYCN

check button Fusion gene summary
Fusion gene informationFusion gene name: C17orf80_MYCN
Fusion gene ID: 4771
HgeneTgene
Gene symbol

C17orf80

MYCN

Gene ID

55028

4613

Gene namechromosome 17 open reading frame 80MYCN proto-oncogene, bHLH transcription factor
SynonymsHLC-8|MIG3|SPEP1MODED|N-myc|NMYC|ODED|bHLHe37
Cytomap

17q25.1

2p24.3

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein C17orf80cell migration-inducing gene 3 proteinhuman lung cancer oncogene 8 proteinlung cancer-related protein 8sperm-expressed protein 1N-myc proto-oncogene proteinclass E basic helix-loop-helix protein 37neuroblastoma MYC oncogeneneuroblastoma-derived v-myc avian myelocytomatosis viral related oncogeneoncogene NMYCv-myc avian myelocytomatosis viral oncogene neuroblastoma derived hom
Modification date2018051920180520
UniProtAcc

Q9BSJ5

P04198

Ensembl transtripts involved in fusion geneENST00000255557, ENST00000577615, 
ENST00000268942, ENST00000359042, 
ENST00000426147, ENST00000535032, 
ENST00000582793, 
ENST00000281043, 
Fusion gene scores* DoF score2 X 2 X 1=41 X 1 X 1=1
# samples 32
** MAII scorelog2(3/4*10)=2.90689059560852log2(2/1*10)=4.32192809488736
Context

PubMed: C17orf80 [Title/Abstract] AND MYCN [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
TgeneMYCN

GO:0010628

positive regulation of gene expression

23308108

TgeneMYCN

GO:0010629

negative regulation of gene expression

21796614

TgeneMYCN

GO:0045944

positive regulation of transcription by RNA polymerase II

17327229


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
ChiTaRS3.1CX753028C17orf80chr17

71243455

-MYCNchr2

16085675

+
ChiTaRS3.1CX752004C17orf80chr17

71243455

-MYCNchr2

16085675

+
* 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
intron-3CDSENST00000255557ENST00000281043C17orf80chr17

71243455

-MYCNchr2

16085675

+
Frame-shiftENST00000577615ENST00000281043C17orf80chr17

71243455

-MYCNchr2

16085675

+
Frame-shiftENST00000268942ENST00000281043C17orf80chr17

71243455

-MYCNchr2

16085675

+
Frame-shiftENST00000359042ENST00000281043C17orf80chr17

71243455

-MYCNchr2

16085675

+
intron-3CDSENST00000426147ENST00000281043C17orf80chr17

71243455

-MYCNchr2

16085675

+
Frame-shiftENST00000535032ENST00000281043C17orf80chr17

71243455

-MYCNchr2

16085675

+
Frame-shiftENST00000582793ENST00000281043C17orf80chr17

71243455

-MYCNchr2

16085675

+

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FusionProtFeatures for C17orf80_MYCN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C17orf80

Q9BSJ5

MYCN

P04198

Positively regulates the transcription of MYCNOS inneuroblastoma cells. {ECO:0000269|PubMed:24391509}.

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 C17orf80_MYCN


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 C17orf80_MYCN


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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RelatedDrugs for C17orf80_MYCN


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 C17orf80_MYCN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMYCNC0027819Neuroblastoma12CTD_human;ORPHANET
TgeneMYCNC0796068Oculodigitoesophagoduodenal syndrome3CTD_human;ORPHANET;UNIPROT
TgeneMYCNC0007117Basal cell carcinoma1CTD_human
TgeneMYCNC0007621Neoplastic Cell Transformation1CTD_human
TgeneMYCNC0008625Chromosome Aberrations1CTD_human
TgeneMYCNC0010606Adenoid Cystic Carcinoma1CTD_human
TgeneMYCNC0020507Hyperplasia1CTD_human
TgeneMYCNC0025149Medulloblastoma1CTD_human
TgeneMYCNC0027540Necrosis1CTD_human