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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: 25427

FusionGeneSummary for OMA1_CDK4

check button Fusion gene summary
Fusion gene informationFusion gene name: OMA1_CDK4
Fusion gene ID: 25427
HgeneTgene
Gene symbol

OMA1

CDK4

Gene ID

115209

1019

Gene nameOMA1 zinc metallopeptidasecyclin dependent kinase 4
Synonyms2010001O09Rik|DAB1|MPRP-1|MPRP1|YKR087C|ZMPOMA1|peptidaseCMM3|PSK-J3
Cytomap

1p32.2-p32.1

12q14.1

Type of geneprotein-codingprotein-coding
Descriptionmetalloendopeptidase OMA1, mitochondrialOMA1 homolog, zinc metallopeptidaseOMA1 zinc metallopeptidase homologmetalloprotease-related protein 1overlapping activity with M-AAA proteaseoverlapping with the m-AAA protease 1 homologzinc metallopeptidase cyclin-dependent kinase 4cell division protein kinase 4
Modification date2018051920180523
UniProtAcc

Q96E52

P11802

Ensembl transtripts involved in fusion geneENST00000358603, ENST00000371226, 
ENST00000467063, 
ENST00000257904, 
ENST00000312990, ENST00000549606, 
ENST00000540325, ENST00000551888, 
Fusion gene scores* DoF score2 X 1 X 2=47 X 2 X 3=42
# samples 26
** MAII scorelog2(2/4*10)=2.32192809488736log2(6/42*10)=0.514573172829758
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: OMA1 [Title/Abstract] AND CDK4 [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
TgeneCDK4

GO:0006468

protein phosphorylation

8114739

TgeneCDK4

GO:0010971

positive regulation of G2/M transition of mitotic cell cycle

19124461

TgeneCDK4

GO:0071157

negative regulation of cell cycle arrest

19124461


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
TCGALDSARCTCGA-DX-A23V-01AOMA1chr1

58971732

-CDK4chr12

58142400

-
* 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
Frame-shitENST00000358603ENST00000257904OMA1chr1

58971732

-CDK4chr12

58142400

-
5CDS-3UTRENST00000358603ENST00000312990OMA1chr1

58971732

-CDK4chr12

58142400

-
5CDS-3UTRENST00000358603ENST00000549606OMA1chr1

58971732

-CDK4chr12

58142400

-
5CDS-3UTRENST00000358603ENST00000540325OMA1chr1

58971732

-CDK4chr12

58142400

-
5CDS-intronENST00000358603ENST00000551888OMA1chr1

58971732

-CDK4chr12

58142400

-
Frame-shitENST00000371226ENST00000257904OMA1chr1

58971732

-CDK4chr12

58142400

-
5CDS-3UTRENST00000371226ENST00000312990OMA1chr1

58971732

-CDK4chr12

58142400

-
5CDS-3UTRENST00000371226ENST00000549606OMA1chr1

58971732

-CDK4chr12

58142400

-
5CDS-3UTRENST00000371226ENST00000540325OMA1chr1

58971732

-CDK4chr12

58142400

-
5CDS-intronENST00000371226ENST00000551888OMA1chr1

58971732

-CDK4chr12

58142400

-
intron-3CDSENST00000467063ENST00000257904OMA1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000467063ENST00000312990OMA1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000467063ENST00000549606OMA1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000467063ENST00000540325OMA1chr1

58971732

-CDK4chr12

58142400

-
intron-intronENST00000467063ENST00000551888OMA1chr1

58971732

-CDK4chr12

58142400

-

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FusionProtFeatures for OMA1_CDK4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
OMA1

Q96E52

CDK4

P11802

Metalloprotease that is part of the quality controlsystem in the inner membrane of mitochondria. Following stressconditions that induce loss of mitochondrial membrane potential,mediates cleavage of OPA1 at S1 position, leading to OPA1inactivation and negative regulation of mitochondrial fusion. Mayalso cleave UQCC3 under these conditions. Its role inmitochondrial quality control is essential for regulating lipidmetabolism as well as to maintain body temperature and energyexpenditure under cold-stress conditions.{ECO:0000250|UniProtKB:Q9D8H7, ECO:0000269|PubMed:20038677}. Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexesthat phosphorylate and inhibit members of the retinoblastoma (RB)protein family including RB1 and regulate the cell-cycle duringG(1)/S transition. Phosphorylation of RB1 allows dissociation ofthe transcription factor E2F from the RB/E2F complexes and thesubsequent transcription of E2F target genes which are responsiblefor the progression through the G(1) phase. Hypophosphorylates RB1in early G(1) phase. Cyclin D-CDK4 complexes are major integratorsof various mitogenenic and antimitogenic signals. Alsophosphorylates SMAD3 in a cell-cycle-dependent manner andrepresses its transcriptional activity. Component of the ternarycomplex, cyclin D/CDK4/CDKN1B, required for nuclear translocationand activity of the cyclin D-CDK4 complex.{ECO:0000269|PubMed:15241418, ECO:0000269|PubMed:18827403,ECO:0000269|PubMed:9003781}.

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 OMA1_CDK4


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 OMA1_CDK4


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
OMA1SLC39A4, TOR3A, IFNA8, TPP1, NCR3LG1, SYCE3, CNPPD1, SCN3B, BZW2, IRGC, P2RX1, AMIGO3, GXYLT1, FAM8A1, SLC4A8, SIL1, TBC1D25, EDEM2, UST, SLC15A1CDK4CDKN2D, VTA1, CDKN2B, CCND3, CDKN2C, CDC37, CDKN2A, RPRM, ACTR3B, DBNL, SMC3, GEMIN4, UBXN1, SMC1A, LYN, SERTAD1, BAG6, SETDB1, CAPNS1, CCND1, PCNA, CCND2, CDKN1B, CNOT7, RFC1, BRCA1, CEBPA, MYOD1, BIRC5, CDKN1A, RB1, SP1, SAP25, CDT1, HSPA8, NCOA2, TSPYL2, WDR77, PRMT5, ARID4A, PPP2R1B, PPP2R1A, UHRF2, IRF8, DAZAP2, SNCA, TK1, APLP1, DDAH2, ZBTB16, QARS, HMGXB3, TRMT2A, ATP5B, PKM, LUC7L2, ANXA7, HSP90AA1, HIST1H1D, PSMD9, HIST1H1A, CDK5R1, ARRB2, MARCKS, RPL34, PSMA6, CCNE1, CCNA2, PPP1CA, CUL3, CUL4B, CUL1, COPS5, COPS6, H1F0, PSMD10, APP, UBTF, POLD1, VCP, SMAD3, SMAD2, FOXM1, CDC6, GLI1, MYC, OTX2, RBL1, RBL2, SHOX2, MZF1, SLBP, ANKRD12, SENP3, ZNF219, BCL11A, WDR33, ZNF335, ZNF101, MCM2, CDC7, UCHL1, KLHL32, CAMK1, PTMA, IL15RA, DUSP9, PGD, SKP1, CIB1, MAPRE2, CDK13, TARDBP, HSP90AB1, CDK6, TRAP1, FKBP5, RELA, HOOK1, LIMK2, RCAN3, HSP90AB4P, HSP90AB3P, HSP90AA5P, OGFR, EIF1AX, GUSB, OGFRL1, JAK3, GFER, VSIG8, NTRK1, ANKRA2, CEP135, IQGAP1, SMTN, SORBS1, NUP133, ZNFX1, ZC3H14, TMEM126A, ASPM, UBXN10, VHL, HDAC1, PRKDC, CHEK2, ERBB2, BCL2, TOP1, PTEN, YBX3, USP17L2, FNIP1, FNIP2, MTMR14, MTMR8, VTN, PTPN1, PTPN21, DNAJC9, E2F4, CDKN1C


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 OMA1_CDK4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCDK4P11802DB09073PalbociclibCyclin-dependent kinase 4small moleculeapproved|investigational

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RelatedDiseases for OMA1_CDK4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCDK4C0024668Mammary Neoplasms, Experimental3CTD_human
TgeneCDK4C1836892MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 33CTD_human;UNIPROT
TgeneCDK4C0023827liposarcoma2CTD_human
TgeneCDK4C0024667Animal Mammary Neoplasms2CTD_human
TgeneCDK4C0006118Brain Neoplasms1CTD_human
TgeneCDK4C0027659Neoplasms, Experimental1CTD_human
TgeneCDK4C0038356Stomach Neoplasms1CTD_human
TgeneCDK4C0677866Brain Stem Neoplasms1CTD_human
TgeneCDK4C2239176Liver carcinoma1CTD_human