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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: 8359

FusionGeneSummary for CPT1A_MYEOV

check button Fusion gene summary
Fusion gene informationFusion gene name: CPT1A_MYEOV
Fusion gene ID: 8359
HgeneTgene
Gene symbol

CPT1A

MYEOV

Gene ID

1374

26579

Gene namecarnitine palmitoyltransferase 1Amyeloma overexpressed
SynonymsCPT1|CPT1-L|L-CPT1OCIM
Cytomap

11q13.3

11q13.3

Type of geneprotein-codingprotein-coding
Descriptioncarnitine O-palmitoyltransferase 1, liver isoformCPT ICPTI-Lcarnitine O-palmitoyltransferase I, liver isoformcarnitine palmitoyltransferase 1A (liver)carnitine palmitoyltransferase I, livermyeloma-overexpressed gene proteinmyeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)myeloma overexpressed gene (in a subset of t(11;14) positive multiple myelomas)oncogene in multiple myeloma
Modification date2018052320180519
UniProtAcc

P50416

Q96EZ4

Ensembl transtripts involved in fusion geneENST00000540367, ENST00000376618, 
ENST00000265641, ENST00000539743, 
ENST00000537756, ENST00000538994, 
ENST00000441339, ENST00000308946, 
ENST00000535407, ENST00000541137, 
Fusion gene scores* DoF score23 X 16 X 11=404813 X 4 X 7=364
# samples 2314
** MAII scorelog2(23/4048*10)=-4.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/364*10)=-1.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CPT1A [Title/Abstract] AND MYEOV [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
HgeneCPT1A

GO:0001676

long-chain fatty acid metabolic process

11350182

HgeneCPT1A

GO:0009437

carnitine metabolic process

11350182


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-C8-A138-01ACPT1Achr11

68609243

-MYEOVchr11

69156278

+
* 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-intronENST00000540367ENST00000441339CPT1Achr11

68609243

-MYEOVchr11

69156278

+
intron-intronENST00000540367ENST00000308946CPT1Achr11

68609243

-MYEOVchr11

69156278

+
intron-intronENST00000540367ENST00000535407CPT1Achr11

68609243

-MYEOVchr11

69156278

+
intron-3UTRENST00000540367ENST00000541137CPT1Achr11

68609243

-MYEOVchr11

69156278

+
5UTR-intronENST00000376618ENST00000441339CPT1Achr11

68609243

-MYEOVchr11

69156278

+
5UTR-intronENST00000376618ENST00000308946CPT1Achr11

68609243

-MYEOVchr11

69156278

+
5UTR-intronENST00000376618ENST00000535407CPT1Achr11

68609243

-MYEOVchr11

69156278

+
5UTR-3UTRENST00000376618ENST00000541137CPT1Achr11

68609243

-MYEOVchr11

69156278

+
5UTR-intronENST00000265641ENST00000441339CPT1Achr11

68609243

-MYEOVchr11

69156278

+
5UTR-intronENST00000265641ENST00000308946CPT1Achr11

68609243

-MYEOVchr11

69156278

+
5UTR-intronENST00000265641ENST00000535407CPT1Achr11

68609243

-MYEOVchr11

69156278

+
5UTR-3UTRENST00000265641ENST00000541137CPT1Achr11

68609243

-MYEOVchr11

69156278

+
intron-intronENST00000539743ENST00000441339CPT1Achr11

68609243

-MYEOVchr11

69156278

+
intron-intronENST00000539743ENST00000308946CPT1Achr11

68609243

-MYEOVchr11

69156278

+
intron-intronENST00000539743ENST00000535407CPT1Achr11

68609243

-MYEOVchr11

69156278

+
intron-3UTRENST00000539743ENST00000541137CPT1Achr11

68609243

-MYEOVchr11

69156278

+
intron-intronENST00000537756ENST00000441339CPT1Achr11

68609243

-MYEOVchr11

69156278

+
intron-intronENST00000537756ENST00000308946CPT1Achr11

68609243

-MYEOVchr11

69156278

+
intron-intronENST00000537756ENST00000535407CPT1Achr11

68609243

-MYEOVchr11

69156278

+
intron-3UTRENST00000537756ENST00000541137CPT1Achr11

68609243

-MYEOVchr11

69156278

+
intron-intronENST00000538994ENST00000441339CPT1Achr11

68609243

-MYEOVchr11

69156278

+
intron-intronENST00000538994ENST00000308946CPT1Achr11

68609243

-MYEOVchr11

69156278

+
intron-intronENST00000538994ENST00000535407CPT1Achr11

68609243

-MYEOVchr11

69156278

+
intron-3UTRENST00000538994ENST00000541137CPT1Achr11

68609243

-MYEOVchr11

69156278

+

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FusionProtFeatures for CPT1A_MYEOV


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CPT1A

P50416

MYEOV

Q96EZ4

Catalyzes the transfer of the acyl group of long-chainfatty acid-CoA conjugates onto carnitine, an essential step forthe mitochondrial uptake of long-chain fatty acids and theirsubsequent beta-oxidation in the mitochondrion. Plays an importantrole in triglyceride metabolism.

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 CPT1A_MYEOV


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 CPT1A_MYEOV


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
CPT1ACLN3, PCK1, EIF3C, CPS1, LPP, TOMM40, ATP6V1C1, RHOA, NDUFA2, ERLIN1, NDUFV1, NDUFS1, PCBP1, SNRNP200, PARK2, LYN, HDAC11, CLIC1, NPDC1, CYBA, NR4A1, HSPA5, KBTBD7, FBXO6, LGR4, ENO1, MOV10, NXF1, RNF2, NTRK1, HERC2, TUBG1, RAB7A, HDAC6, HUWE1, COQ9, NDUFA4, TBC1D9, GABRG2, UBC, PDHA1, SDHA, TRIM25MYEOVPRTFDC1, CNN1


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 CPT1A_MYEOV


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCPT1AP50416DB01016GlyburideCarnitine O-palmitoyltransferase 1, liver isoformsmall moleculeapproved
HgeneCPT1AP50416DB00583L-CarnitineCarnitine O-palmitoyltransferase 1, liver isoformsmall moleculeapproved|investigational
HgeneCPT1AP50416DB01074PerhexilineCarnitine O-palmitoyltransferase 1, liver isoformsmall moleculeapproved|investigational

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RelatedDiseases for CPT1A_MYEOV


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCPT1AC1829703Carnitine palmitoyl transferase 1A deficiency6CTD_human;ORPHANET;UNIPROT
HgeneCPT1AC0011849Diabetes Mellitus1CTD_human
HgeneCPT1AC0011853Diabetes Mellitus, Experimental1CTD_human
HgeneCPT1AC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneCPT1AC0022661Kidney Failure, Chronic1CTD_human
HgeneCPT1AC1458155Mammary Neoplasms1CTD_human