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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: 31794

FusionGeneSummary for RPL13_MASP1

check button Fusion gene summary
Fusion gene informationFusion gene name: RPL13_MASP1
Fusion gene ID: 31794
HgeneTgene
Gene symbol

RPL13

MASP1

Gene ID

28998

5648

Gene namemitochondrial ribosomal protein L13mannan binding lectin serine peptidase 1
SynonymsL13|L13A|L13mt|RPL13|RPML133MC1|CRARF|CRARF1|MAP1|MASP|MASP3|MAp44|PRSS5|RaRF
Cytomap

8q24.12

3q27.3

Type of geneprotein-codingprotein-coding
Description39S ribosomal protein L13, mitochondrialMRP-L13mitochondrial large ribosomal subunit protein uL13mmannan-binding lectin serine protease 1C4/C2 activating component of Ra-reactive factorRa-reactive factor serine protease p100complement factor MASP-3complement-activating component of Ra-reactive factormannose-binding lectin-associated serine protea
Modification date2018052320180523
UniProtAcc

P26373

P48740

Ensembl transtripts involved in fusion geneENST00000311528, ENST00000567815, 
ENST00000452368, ENST00000393099, 
ENST00000337774, ENST00000296280, 
ENST00000392472, ENST00000495249, 
ENST00000169293, ENST00000392470, 
Fusion gene scores* DoF score6 X 7 X 2=842 X 2 X 2=8
# samples 72
** MAII scorelog2(7/84*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: RPL13 [Title/Abstract] AND MASP1 [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
ChiTaRS3.1BG331404RPL13chr16

89628148

+MASP1chr3

186994641

-
* 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-intronENST00000311528ENST00000337774RPL13chr16

89628148

+MASP1chr3

186994641

-
5CDS-intronENST00000311528ENST00000296280RPL13chr16

89628148

+MASP1chr3

186994641

-
5CDS-intronENST00000311528ENST00000392472RPL13chr16

89628148

+MASP1chr3

186994641

-
5CDS-intronENST00000311528ENST00000495249RPL13chr16

89628148

+MASP1chr3

186994641

-
5CDS-intronENST00000311528ENST00000169293RPL13chr16

89628148

+MASP1chr3

186994641

-
5CDS-intronENST00000311528ENST00000392470RPL13chr16

89628148

+MASP1chr3

186994641

-
5CDS-intronENST00000567815ENST00000337774RPL13chr16

89628148

+MASP1chr3

186994641

-
5CDS-intronENST00000567815ENST00000296280RPL13chr16

89628148

+MASP1chr3

186994641

-
5CDS-intronENST00000567815ENST00000392472RPL13chr16

89628148

+MASP1chr3

186994641

-
5CDS-intronENST00000567815ENST00000495249RPL13chr16

89628148

+MASP1chr3

186994641

-
5CDS-intronENST00000567815ENST00000169293RPL13chr16

89628148

+MASP1chr3

186994641

-
5CDS-intronENST00000567815ENST00000392470RPL13chr16

89628148

+MASP1chr3

186994641

-
intron-intronENST00000452368ENST00000337774RPL13chr16

89628148

+MASP1chr3

186994641

-
intron-intronENST00000452368ENST00000296280RPL13chr16

89628148

+MASP1chr3

186994641

-
intron-intronENST00000452368ENST00000392472RPL13chr16

89628148

+MASP1chr3

186994641

-
intron-intronENST00000452368ENST00000495249RPL13chr16

89628148

+MASP1chr3

186994641

-
intron-intronENST00000452368ENST00000169293RPL13chr16

89628148

+MASP1chr3

186994641

-
intron-intronENST00000452368ENST00000392470RPL13chr16

89628148

+MASP1chr3

186994641

-
5CDS-intronENST00000393099ENST00000337774RPL13chr16

89628148

+MASP1chr3

186994641

-
5CDS-intronENST00000393099ENST00000296280RPL13chr16

89628148

+MASP1chr3

186994641

-
5CDS-intronENST00000393099ENST00000392472RPL13chr16

89628148

+MASP1chr3

186994641

-
5CDS-intronENST00000393099ENST00000495249RPL13chr16

89628148

+MASP1chr3

186994641

-
5CDS-intronENST00000393099ENST00000169293RPL13chr16

89628148

+MASP1chr3

186994641

-
5CDS-intronENST00000393099ENST00000392470RPL13chr16

89628148

+MASP1chr3

186994641

-

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FusionProtFeatures for RPL13_MASP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RPL13

P26373

MASP1

P48740


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 RPL13_MASP1


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 RPL13_MASP1


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


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RelatedDrugs for RPL13_MASP1


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 RPL13_MASP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRPL13C0038356Stomach Neoplasms1CTD_human
TgeneMASP1C0376634Craniofacial Abnormalities1CTD_human
TgeneMASP1C0549567Pigmentation Disorders1CTD_human
TgeneMASP1C0796032Malpuech facial clefting syndrome1CTD_human
TgeneMASP1C0796059Oculopalatoskeletal syndrome1CTD_human
TgeneMASP1C0796279Carnevale syndrome1CTD_human