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: 21175

FusionGeneSummary for MBD2_ARCN1

check button Fusion gene summary
Fusion gene informationFusion gene name: MBD2_ARCN1
Fusion gene ID: 21175
HgeneTgene
Gene symbol

MBD2

ARCN1

Gene ID

64174

372

Gene namedipeptidase 2archain 1
SynonymsMBD2COPD|SRMMD
Cytomap

16q22.1

11q23.3

Type of geneprotein-codingprotein-coding
Descriptiondipeptidase 2coatomer subunit deltaarchain vesicle transport protein 1coatomer delta subunitcoatomer protein complex, subunit deltacoatomer protein delta-COPdelta-COPdelta-coat protein
Modification date2018051920180523
UniProtAcc

Q9UBB5

P48444

Ensembl transtripts involved in fusion geneENST00000256429, ENST00000579025, 
ENST00000398398, ENST00000583046, 
ENST00000392859, ENST00000359415, 
ENST00000534182, ENST00000264028, 
Fusion gene scores* DoF score5 X 4 X 2=406 X 6 X 3=108
# samples 56
** MAII scorelog2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MBD2 [Title/Abstract] AND ARCN1 [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
ChiTaRS3.1X81198MBD2chr18

51715244

-ARCN1chr11

118452058

+
* 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-intronENST00000256429ENST00000392859MBD2chr18

51715244

-ARCN1chr11

118452058

+
5CDS-intronENST00000256429ENST00000359415MBD2chr18

51715244

-ARCN1chr11

118452058

+
5CDS-intronENST00000256429ENST00000534182MBD2chr18

51715244

-ARCN1chr11

118452058

+
5CDS-intronENST00000256429ENST00000264028MBD2chr18

51715244

-ARCN1chr11

118452058

+
intron-intronENST00000579025ENST00000392859MBD2chr18

51715244

-ARCN1chr11

118452058

+
intron-intronENST00000579025ENST00000359415MBD2chr18

51715244

-ARCN1chr11

118452058

+
intron-intronENST00000579025ENST00000534182MBD2chr18

51715244

-ARCN1chr11

118452058

+
intron-intronENST00000579025ENST00000264028MBD2chr18

51715244

-ARCN1chr11

118452058

+
intron-intronENST00000398398ENST00000392859MBD2chr18

51715244

-ARCN1chr11

118452058

+
intron-intronENST00000398398ENST00000359415MBD2chr18

51715244

-ARCN1chr11

118452058

+
intron-intronENST00000398398ENST00000534182MBD2chr18

51715244

-ARCN1chr11

118452058

+
intron-intronENST00000398398ENST00000264028MBD2chr18

51715244

-ARCN1chr11

118452058

+
intron-intronENST00000583046ENST00000392859MBD2chr18

51715244

-ARCN1chr11

118452058

+
intron-intronENST00000583046ENST00000359415MBD2chr18

51715244

-ARCN1chr11

118452058

+
intron-intronENST00000583046ENST00000534182MBD2chr18

51715244

-ARCN1chr11

118452058

+
intron-intronENST00000583046ENST00000264028MBD2chr18

51715244

-ARCN1chr11

118452058

+

Top

FusionProtFeatures for MBD2_ARCN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MBD2

Q9UBB5

ARCN1

P48444

Binds CpG islands in promoters where the DNA ismethylated at position 5 of cytosine within CpG dinucleotides.Binds hemimethylated DNA as well. Recruits histone deacetylasesand DNA methyltransferases. Acts as transcriptional repressor andplays a role in gene silencing. Functions as a scaffold protein,targeting GATAD2A and GATAD2B to chromatin to promote repression.May enhance the activation of some unmethylated cAMP-responsivepromoters. {ECO:0000269|PubMed:10471499,ECO:0000269|PubMed:10947852, ECO:0000269|PubMed:12665568,ECO:0000269|PubMed:16415179, ECO:0000269|PubMed:24307175,ECO:0000269|PubMed:9774669}. Component of the coatomer, a cytosolic protein complexthat binds to dilysine motifs and reversibly associates with Golginon-clathrin-coated vesicles, which further mediate biosyntheticprotein transport from the ER, via the Golgi up to the trans Golginetwork. The coatomer complex is required for budding from Golgimembranes, and is essential for the retrograde Golgi-to-ERtransport of dilysine-tagged proteins. In mammals, the coatomercan only be recruited by membranes associated to ADP-ribosylationfactors (ARFs), which are small GTP-binding proteins; the complexalso influences the Golgi structural integrity, as well as theprocessing, activity, and endocytic recycling of LDL receptors (Bysimilarity). {ECO:0000250}.

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 MBD2_ARCN1


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 MBD2_ARCN1


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 MBD2_ARCN1


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

Top

RelatedDiseases for MBD2_ARCN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMBD2C0033578Prostatic Neoplasms1CTD_human
HgeneMBD2C0036341Schizophrenia1PSYGENET
TgeneARCN1C0004134Ataxia1CTD_human