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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: 9695

FusionGeneSummary for DEGS1_CDC73

check button Fusion gene summary
Fusion gene informationFusion gene name: DEGS1_CDC73
Fusion gene ID: 9695
HgeneTgene
Gene symbol

DEGS1

CDC73

Gene ID

8560

79577

Gene namedelta 4-desaturase, sphingolipid 1cell division cycle 73
SynonymsDEGS|DEGS-1|DES1|Des-1|FADS7|MIG15|MLDC1orf28|FIHP|HPTJT|HRPT1|HRPT2|HYX
Cytomap

1q42.11

1q31.2

Type of geneprotein-codingprotein-coding
Descriptionsphingolipid delta(4)-desaturase DES1cell migration-inducing gene 15 proteindegenerative spermatocyte homolog 1, lipid desaturasedegenerative spermatocyte homolog, lipid desaturasedihydroceramide desaturase 1membrane fatty acid (lipid) desaturasememparafibrominPaf1/RNA polymerase II complex componentcell division cycle 73 Paf1/RNA polymerase II complex component-like proteincell division cycle 73, Paf1/RNA polymerase II complex component, homologcell division cycle protein 73 homologhyperparath
Modification date2018052320180523
UniProtAcc

O15121

Q6P1J9

Ensembl transtripts involved in fusion geneENST00000323699, ENST00000391877, 
ENST00000465848, 
ENST00000367435, 
ENST00000477868, 
Fusion gene scores* DoF score4 X 4 X 1=162 X 2 X 1=4
# samples 42
** MAII scorelog2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/4*10)=2.32192809488736
Context

PubMed: DEGS1 [Title/Abstract] AND CDC73 [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
TgeneCDC73

GO:0008285

negative regulation of cell proliferation

16989776

TgeneCDC73

GO:0010390

histone monoubiquitination

16307923

TgeneCDC73

GO:0030177

positive regulation of Wnt signaling pathway

16630820

TgeneCDC73

GO:0032968

positive regulation of transcription elongation from RNA polymerase II promoter

20178742

TgeneCDC73

GO:0033523

histone H2B ubiquitination

16307923

TgeneCDC73

GO:0045638

negative regulation of myeloid cell differentiation

20541477

TgeneCDC73

GO:0045944

positive regulation of transcription by RNA polymerase II

20178742

TgeneCDC73

GO:2000134

negative regulation of G1/S transition of mitotic cell cycle

16989776


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
ChiTaRS3.1AI167570DEGS1chr1

224380087

+CDC73chr1

193189506

+
* 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-intronENST00000323699ENST00000367435DEGS1chr1

224380087

+CDC73chr1

193189506

+
5CDS-intronENST00000323699ENST00000477868DEGS1chr1

224380087

+CDC73chr1

193189506

+
5CDS-intronENST00000391877ENST00000367435DEGS1chr1

224380087

+CDC73chr1

193189506

+
5CDS-intronENST00000391877ENST00000477868DEGS1chr1

224380087

+CDC73chr1

193189506

+
intron-intronENST00000465848ENST00000367435DEGS1chr1

224380087

+CDC73chr1

193189506

+
intron-intronENST00000465848ENST00000477868DEGS1chr1

224380087

+CDC73chr1

193189506

+

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FusionProtFeatures for DEGS1_CDC73


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DEGS1

O15121

CDC73

Q6P1J9

Has sphingolipid-delta-4-desaturase activity. ConvertsD-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine).{ECO:0000269|PubMed:11937514}. Tumor suppressor probably involved in transcriptionaland post-transcriptional control pathways. May be involved in cellcycle progression through the regulation of cyclin D1/PRAD1expression. Component of the PAF1 complex (PAF1C) which hasmultiple functions during transcription by RNA polymerase II andis implicated in regulation of development and maintenance ofembryonic stem cell pluripotency. PAF1C associates with RNApolymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms andis involved in transcriptional elongation, acting bothindepentently and synergistically with TCEA1 and in cooperationwith the DSIF complex and HTATSF1. PAF1C is required fortranscription of Hox and Wnt target genes. PAF1C is involved inhematopoiesis and stimulates transcriptional activity ofKMT2A/MLL1; it promotes leukemogenesis through association withKMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histonemodifications such as ubiquitination of histone H2B andmethylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits theRNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzymeUBE2A or UBE2B to chromatin which mediate monoubiquitination of'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2Bubiquitination is proposed to be coupled to transcription. PAF1Cis involved in mRNA 3' end formation probably through associationwith cleavage and poly(A) factors. In case of infection byinfluenza A strain H3N2, PAF1C associates with viral NS1 protein,thereby regulating gene transcription. Connects PAF1C with thecleavage and polyadenylation specificity factor (CPSF) complex andthe cleavage stimulation factor (CSTF) complex, and with Wntsignaling. Involved in polyadenylation of mRNA precursors.{ECO:0000269|PubMed:15580289, ECO:0000269|PubMed:15632063,ECO:0000269|PubMed:15923622, ECO:0000269|PubMed:16630820,ECO:0000269|PubMed:16989776, ECO:0000269|PubMed:19136632,ECO:0000269|PubMed:19952111, ECO:0000269|PubMed:20178742,ECO:0000269|PubMed:20541477, ECO:0000269|PubMed:21329879}.

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 DEGS1_CDC73


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 DEGS1_CDC73


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 DEGS1_CDC73


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 DEGS1_CDC73


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDEGS1C0033578Prostatic Neoplasms1CTD_human
TgeneCDC73C1840402HYPERPARATHYROIDISM 13CTD_human;ORPHANET;UNIPROT
TgeneCDC73C1704981Hyperparathyroidism-Jaw Tumor Syndrome1CTD_human;ORPHANET;UNIPROT