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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: 8219

FusionGeneSummary for CPD_ORMDL3

check button Fusion gene summary
Fusion gene informationFusion gene name: CPD_ORMDL3
Fusion gene ID: 8219
HgeneTgene
Gene symbol

CPD

ORMDL3

Gene ID

9455

94103

Gene namehomer scaffold protein 2ORMDL sphingolipid biosynthesis regulator 3
SynonymsACPD|CPD|DFNA68|HOMER-2|VESL-2-
Cytomap

15q25.2

17q21.1

Type of geneprotein-codingprotein-coding
Descriptionhomer protein homolog 2cupidinhomer homolog 2homer homolog 3homer scaffolding protein 2homer, neuronal immediate early gene, 2ORM1-like protein 3
Modification date2018052320180523
UniProtAcc

O75976

Q8N138

Ensembl transtripts involved in fusion geneENST00000225719, ENST00000543464, 
ENST00000584051, 		ENST00000304046, 
ENST00000579695, ENST00000394169, 
ENST00000584220, ENST00000582052, 
Fusion gene scores* DoF score19 X 10 X 9=17106 X 2 X 5=60
# samples 166
** MAII scorelog2(16/1710*10)=-3.4178525148859
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/60*10)=0
Context

PubMed: CPD [Title/Abstract] AND ORMDL3 [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

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
TCGARVLUADTCGA-69-7761-01ACPDchr17

28712254

+ORMDL3chr17

38080478

-
TCGALDLUADTCGA-69-7761-01ACPDchr17

28712254

+ORMDL3chr17

38080473

-
* 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-5UTRENST00000225719ENST00000304046CPDchr17

28712254

+ORMDL3chr17

38080478

-
5CDS-5UTRENST00000225719ENST00000579695CPDchr17

28712254

+ORMDL3chr17

38080478

-
5CDS-5UTRENST00000225719ENST00000394169CPDchr17

28712254

+ORMDL3chr17

38080478

-
5CDS-intronENST00000225719ENST00000584220CPDchr17

28712254

+ORMDL3chr17

38080478

-
5CDS-intronENST00000225719ENST00000582052CPDchr17

28712254

+ORMDL3chr17

38080478

-
5CDS-5UTRENST00000543464ENST00000304046CPDchr17

28712254

+ORMDL3chr17

38080478

-
5CDS-5UTRENST00000543464ENST00000579695CPDchr17

28712254

+ORMDL3chr17

38080478

-
5CDS-5UTRENST00000543464ENST00000394169CPDchr17

28712254

+ORMDL3chr17

38080478

-
5CDS-intronENST00000543464ENST00000584220CPDchr17

28712254

+ORMDL3chr17

38080478

-
5CDS-intronENST00000543464ENST00000582052CPDchr17

28712254

+ORMDL3chr17

38080478

-
intron-5UTRENST00000584051ENST00000304046CPDchr17

28712254

+ORMDL3chr17

38080478

-
intron-5UTRENST00000584051ENST00000579695CPDchr17

28712254

+ORMDL3chr17

38080478

-
intron-5UTRENST00000584051ENST00000394169CPDchr17

28712254

+ORMDL3chr17

38080478

-
intron-intronENST00000584051ENST00000584220CPDchr17

28712254

+ORMDL3chr17

38080478

-
intron-intronENST00000584051ENST00000582052CPDchr17

28712254

+ORMDL3chr17

38080478

-
5CDS-5UTRENST00000225719ENST00000304046CPDchr17

28712254

+ORMDL3chr17

38080473

-
5CDS-5UTRENST00000225719ENST00000579695CPDchr17

28712254

+ORMDL3chr17

38080473

-
5CDS-5UTRENST00000225719ENST00000394169CPDchr17

28712254

+ORMDL3chr17

38080473

-
5CDS-intronENST00000225719ENST00000584220CPDchr17

28712254

+ORMDL3chr17

38080473

-
5CDS-intronENST00000225719ENST00000582052CPDchr17

28712254

+ORMDL3chr17

38080473

-
5CDS-5UTRENST00000543464ENST00000304046CPDchr17

28712254

+ORMDL3chr17

38080473

-
5CDS-5UTRENST00000543464ENST00000579695CPDchr17

28712254

+ORMDL3chr17

38080473

-
5CDS-5UTRENST00000543464ENST00000394169CPDchr17

28712254

+ORMDL3chr17

38080473

-
5CDS-intronENST00000543464ENST00000584220CPDchr17

28712254

+ORMDL3chr17

38080473

-
5CDS-intronENST00000543464ENST00000582052CPDchr17

28712254

+ORMDL3chr17

38080473

-
intron-5UTRENST00000584051ENST00000304046CPDchr17

28712254

+ORMDL3chr17

38080473

-
intron-5UTRENST00000584051ENST00000579695CPDchr17

28712254

+ORMDL3chr17

38080473

-
intron-5UTRENST00000584051ENST00000394169CPDchr17

28712254

+ORMDL3chr17

38080473

-
intron-intronENST00000584051ENST00000584220CPDchr17

28712254

+ORMDL3chr17

38080473

-
intron-intronENST00000584051ENST00000582052CPDchr17

28712254

+ORMDL3chr17

38080473

-

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FusionProtFeatures for CPD_ORMDL3


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

O75976

ORMDL3

Q8N138

Negative regulator of sphingolipid synthesis. Mayindirectly regulate endoplasmic reticulum-mediated Ca(+2)signaling. {ECO:0000269|PubMed:20182505}.

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 CPD_ORMDL3


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 CPD_ORMDL3


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
CPDELAVL1, TCF3, KIAA0368, RAD18, UBL4A, ATP4A, AATF, FBXO6, ASB17, LGR4, CD1B, TNF, NTRK1, TMEM17, TMEM216, PPM1H, DEFA1, UFSP2, FOXK2, AP1M1ORMDL3EEF1A1, SPTLC1, ELAVL1, LNX1, APP, TCTN3, SLC1A1, SLC22A9, SPRY4, SLC2A12, PTPN11, LMNA


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 CPD_ORMDL3


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 CPD_ORMDL3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneORMDL3C0004096Asthma2CTD_human
TgeneORMDL3C0009324Ulcerative Colitis1CTD_human