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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: 22119

FusionGeneSummary for MKRN2_C12orf75

check button Fusion gene summary
Fusion gene informationFusion gene name: MKRN2_C12orf75
Fusion gene ID: 22119
HgeneTgene
Gene symbol

MKRN2

C12orf75

Gene ID

23609

387882

Gene namemakorin ring finger protein 2chromosome 12 open reading frame 75
SynonymsHSPC070|RNF62AGD3|OCC-1|OCC1
Cytomap

3p25.2

12q23.3

Type of geneprotein-codingprotein-coding
Descriptionprobable E3 ubiquitin-protein ligase makorin-2RING finger protein 62RING-type E3 ubiquitin transferase makorin-2makorin RING zinc-finger protein 2overexpressed in colon carcinoma 1 proteinadipogenesis down-regulated 3overexpressed in colon carcinoma-1putative overexpressed in colon carcinoma-1 protein variant C
Modification date2018051920180519
UniProtAcc

Q9H000

Ensembl transtripts involved in fusion geneENST00000170447, ENST00000411987, 
ENST00000448482, 
ENST00000548458, 
ENST00000549893, ENST00000443585, 
ENST00000552457, 
Fusion gene scores* DoF score3 X 2 X 3=183 X 3 X 3=27
# samples 43
** MAII scorelog2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MKRN2 [Title/Abstract] AND C12orf75 [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
TCGALDHNSCTCGA-CV-6948-01AMKRN2chr3

12618240

+C12orf75chr12

105720748

+
* 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-3UTRENST00000170447ENST00000548458MKRN2chr3

12618240

+C12orf75chr12

105720748

+
5CDS-intronENST00000170447ENST00000549893MKRN2chr3

12618240

+C12orf75chr12

105720748

+
5CDS-intronENST00000170447ENST00000443585MKRN2chr3

12618240

+C12orf75chr12

105720748

+
5CDS-intronENST00000170447ENST00000552457MKRN2chr3

12618240

+C12orf75chr12

105720748

+
5CDS-3UTRENST00000411987ENST00000548458MKRN2chr3

12618240

+C12orf75chr12

105720748

+
5CDS-intronENST00000411987ENST00000549893MKRN2chr3

12618240

+C12orf75chr12

105720748

+
5CDS-intronENST00000411987ENST00000443585MKRN2chr3

12618240

+C12orf75chr12

105720748

+
5CDS-intronENST00000411987ENST00000552457MKRN2chr3

12618240

+C12orf75chr12

105720748

+
5CDS-3UTRENST00000448482ENST00000548458MKRN2chr3

12618240

+C12orf75chr12

105720748

+
5CDS-intronENST00000448482ENST00000549893MKRN2chr3

12618240

+C12orf75chr12

105720748

+
5CDS-intronENST00000448482ENST00000443585MKRN2chr3

12618240

+C12orf75chr12

105720748

+
5CDS-intronENST00000448482ENST00000552457MKRN2chr3

12618240

+C12orf75chr12

105720748

+

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FusionProtFeatures for MKRN2_C12orf75


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MKRN2

Q9H000

C12orf75

E3 ubiquitin ligase catalyzing the covalent attachmentof ubiquitin moieties onto substrate proteins. {ECO:0000250}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 MKRN2_C12orf75


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 MKRN2_C12orf75


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
MKRN2UBE2K, RBCK1, NDN, UBE2D1, GNB2L1, UBE2D4, C1orf109, TRA2A, NIFK, HNRNPDL, HIBCH, RBM4B, LUC7L2, PAIP1, C9orf41, CLK1, XPO1, EZH2, TM9SF4, C11orf57, PARP12, APOBEC3D, NXF1, ZC3H18, ELAVL2, SNRNP70, ZFC3H1, PDLIM2, RELA, BRCA1C12orf75ELAVL1, REL, UNC119, CCR1, CCNL2, HOXB5, FYTTD1, DUSP22, TIGD5, SLC25A41, C1QL4, PDE9A, NPHP3


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 MKRN2_C12orf75


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

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RelatedDiseases for MKRN2_C12orf75


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