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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: 21173

FusionGeneSummary for MB21D2_CTLA4

check button Fusion gene summary
Fusion gene informationFusion gene name: MB21D2_CTLA4
Fusion gene ID: 21173
HgeneTgene
Gene symbol

MB21D2

CTLA4

Gene ID

151963

1493

Gene nameMab-21 domain containing 2cytotoxic T-lymphocyte associated protein 4
SynonymsC3orf59ALPS5|CD|CD152|CELIAC3|CTLA-4|GRD4|GSE|IDDM12
Cytomap

3q29

2q33.2

Type of geneprotein-codingprotein-coding
Descriptionprotein MB21D2mab-21 domain-containing protein 2cytotoxic T-lymphocyte protein 4CD152 isoformceliac disease 3cytotoxic T lymphocyte associated antigen 4 short spliced formcytotoxic T-lymphocyte-associated serine esterase-4insulin-dependent diabetes mellitus 12ligand and transmembrane spliced cyto
Modification date2018052220180529
UniProtAcc

Q8IYB1

P16410

Ensembl transtripts involved in fusion geneENST00000392452, ENST00000302823, 
ENST00000295854, ENST00000472206, 
ENST00000487393, ENST00000427473, 
Fusion gene scores* DoF score3 X 2 X 3=182 X 1 X 2=4
# samples 32
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/4*10)=2.32192809488736
Context

PubMed: MB21D2 [Title/Abstract] AND CTLA4 [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
TgeneCTLA4

GO:0045590

negative regulation of regulatory T cell differentiation

18641304


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-FX-A2QS-01AMB21D2chr3

192635419

-CTLA4chr2

204735309

+
* 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-shitENST00000392452ENST00000302823MB21D2chr3

192635419

-CTLA4chr2

204735309

+
Frame-shitENST00000392452ENST00000295854MB21D2chr3

192635419

-CTLA4chr2

204735309

+
Frame-shitENST00000392452ENST00000472206MB21D2chr3

192635419

-CTLA4chr2

204735309

+
5CDS-intronENST00000392452ENST00000487393MB21D2chr3

192635419

-CTLA4chr2

204735309

+
5CDS-5UTRENST00000392452ENST00000427473MB21D2chr3

192635419

-CTLA4chr2

204735309

+

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FusionProtFeatures for MB21D2_CTLA4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MB21D2

Q8IYB1

CTLA4

P16410


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 MB21D2_CTLA4


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 MB21D2_CTLA4


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
MB21D2AHI1, MKS1, CC2D2A, CEP170, CEP104, CNTROB, CEP128, CEP89, STIL, TMEM17, TMEM216, CENPJ, CDH1, KCNJ6, PTRF, RAB3IP, TRAPPC9, TRAPPC10, TRAPPC3, TRAPPC4, TRAPPC1, TRAPPC2L, TMEM102, PDLIM7, RAB3IL1CTLA4CD80, AP2M1, CD86, CTLA4, FYN, LCK, LYN, PPP2R5A, JAK2, ELAVL1, STAT5A, STAT5B


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 MB21D2_CTLA4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCTLA4P16410DB06186IpilimumabCytotoxic T-lymphocyte protein 4biotechapproved

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RelatedDiseases for MB21D2_CTLA4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCTLA4C0018213Graves Disease3CTD_human
TgeneCTLA4C0036341Schizophrenia3PSYGENET
TgeneCTLA4C0003873Rheumatoid Arthritis2CTD_human
TgeneCTLA4C0005586Bipolar Disorder2PSYGENET
TgeneCTLA4C0041696Unipolar Depression2PSYGENET
TgeneCTLA4C1269683Major Depressive Disorder2PSYGENET
TgeneCTLA4C0002171Alopecia Areata1CTD_human
TgeneCTLA4C0018133Graft-vs-Host Disease1CTD_human
TgeneCTLA4C0023493Adult T-Cell Lymphoma/Leukemia1CTD_human
TgeneCTLA4C0025202melanoma1CTD_human
TgeneCTLA4C0029172Oral Submucous Fibrosis1CTD_human
TgeneCTLA4C0031117Peripheral Neuropathy1CTD_human
TgeneCTLA4C0079773Lymphoma, T-Cell, Cutaneous1CTD_human;HPO
TgeneCTLA4C3495559Juvenile arthritis1CTD_human
TgeneCTLA4C4015214AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V1ORPHANET;UNIPROT