FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 12550

FusionGeneSummary for FAM133B_MDM2

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM133B_MDM2
Fusion gene ID: 12550
HgeneTgene
Gene symbol

FAM133B

MDM2

Gene ID

257415

4193

Gene namefamily with sequence similarity 133 member BMDM2 proto-oncogene
Synonyms-ACTFS|HDMX|hdm2
Cytomap

7q21.2

12q15

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM133BE3 ubiquitin-protein ligase Mdm2MDM2 oncogene, E3 ubiquitin protein ligaseMDM2 proto-oncogene, E3 ubiquitin protein ligaseMdm2, p53 E3 ubiquitin protein ligase homologMdm2, transformed 3T3 cell double minute 2, p53 binding proteindouble minute 2, hum
Modification date2018051920180527
UniProtAcc

Q5BKY9

Q00987

Ensembl transtripts involved in fusion geneENST00000438306, ENST00000445716, 
ENST00000427372, 
ENST00000462284, 
ENST00000356290, ENST00000540827, 
ENST00000258149, ENST00000428863, 
ENST00000393412, ENST00000258148, 
ENST00000544561, ENST00000393410, 
ENST00000393413, ENST00000517852, 
ENST00000545204, ENST00000350057, 
ENST00000360430, ENST00000299252, 
ENST00000348801, ENST00000478070, 
ENST00000544125, 
Fusion gene scores* DoF score2 X 2 X 2=810 X 7 X 6=420
# samples 29
** MAII scorelog2(2/8*10)=1.32192809488736log2(9/420*10)=-2.22239242133645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FAM133B [Title/Abstract] AND MDM2 [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
TgeneMDM2

GO:0000122

negative regulation of transcription by RNA polymerase II

9271120|17310983

TgeneMDM2

GO:0006511

ubiquitin-dependent protein catabolic process

11278372|15314173|16173922|17310983

TgeneMDM2

GO:0016567

protein ubiquitination

9450543|15878855|19656744|20153724

TgeneMDM2

GO:0031648

protein destabilization

9529249|10360174|15314173

TgeneMDM2

GO:0032436

positive regulation of proteasomal ubiquitin-dependent protein catabolic process

11278372

TgeneMDM2

GO:0034504

protein localization to nucleus

10360174

TgeneMDM2

GO:0042176

regulation of protein catabolic process

9153395

TgeneMDM2

GO:0043518

negative regulation of DNA damage response, signal transduction by p53 class mediator

9529249|10360174

TgeneMDM2

GO:0045184

establishment of protein localization

10360174

TgeneMDM2

GO:0045892

negative regulation of transcription, DNA-templated

9271120

TgeneMDM2

GO:0065003

protein-containing complex assembly

10608892|12915590

TgeneMDM2

GO:0071157

negative regulation of cell cycle arrest

9529249

TgeneMDM2

GO:0071480

cellular response to gamma radiation

16213212

TgeneMDM2

GO:0072717

cellular response to actinomycin D

15314173

TgeneMDM2

GO:1901797

negative regulation of signal transduction by p53 class mediator

16173922


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
ChiTaRS3.1BC079834FAM133Bchr7

92206969

-MDM2chr12

69236111

-
* 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-3UTRENST00000438306ENST00000462284FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-3UTRENST00000438306ENST00000356290FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-3UTRENST00000438306ENST00000540827FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-3UTRENST00000438306ENST00000258149FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-3UTRENST00000438306ENST00000428863FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000438306ENST00000393412FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000438306ENST00000258148FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000438306ENST00000544561FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000438306ENST00000393410FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000438306ENST00000393413FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000438306ENST00000517852FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000438306ENST00000545204FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000438306ENST00000350057FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000438306ENST00000360430FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000438306ENST00000299252FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000438306ENST00000348801FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000438306ENST00000478070FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000438306ENST00000544125FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-3UTRENST00000445716ENST00000462284FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-3UTRENST00000445716ENST00000356290FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-3UTRENST00000445716ENST00000540827FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-3UTRENST00000445716ENST00000258149FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-3UTRENST00000445716ENST00000428863FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000445716ENST00000393412FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000445716ENST00000258148FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000445716ENST00000544561FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000445716ENST00000393410FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000445716ENST00000393413FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000445716ENST00000517852FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000445716ENST00000545204FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000445716ENST00000350057FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000445716ENST00000360430FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000445716ENST00000299252FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000445716ENST00000348801FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000445716ENST00000478070FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000445716ENST00000544125FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-3UTRENST00000427372ENST00000462284FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-3UTRENST00000427372ENST00000356290FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-3UTRENST00000427372ENST00000540827FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-3UTRENST00000427372ENST00000258149FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-3UTRENST00000427372ENST00000428863FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000427372ENST00000393412FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000427372ENST00000258148FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000427372ENST00000544561FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000427372ENST00000393410FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000427372ENST00000393413FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000427372ENST00000517852FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000427372ENST00000545204FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000427372ENST00000350057FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000427372ENST00000360430FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000427372ENST00000299252FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000427372ENST00000348801FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000427372ENST00000478070FAM133Bchr7

92206969

-MDM2chr12

69236111

-
5CDS-intronENST00000427372ENST00000544125FAM133Bchr7

92206969

-MDM2chr12

69236111

-

Top

FusionProtFeatures for FAM133B_MDM2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM133B

Q5BKY9

MDM2

Q00987


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


Top

FusionGeneSequence for FAM133B_MDM2


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).

Top

FusionGenePPI for FAM133B_MDM2


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


Top

RelatedDrugs for FAM133B_MDM2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneMDM2Q00987DB01593ZincE3 ubiquitin-protein ligase Mdm2small moleculeapproved|investigational

Top

RelatedDiseases for FAM133B_MDM2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMDM2C0007131Non-Small Cell Lung Carcinoma2CTD_human
TgeneMDM2C0007621Neoplastic Cell Transformation1CTD_human
TgeneMDM2C0019693HIV Infections1CTD_human
TgeneMDM2C0021364Male infertility1CTD_human
TgeneMDM2C0025202melanoma1CTD_human
TgeneMDM2C0032927Precancerous Conditions1CTD_human
TgeneMDM2C0033578Prostatic Neoplasms1CTD_human
TgeneMDM2C1458155Mammary Neoplasms1CTD_human