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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: 22480

FusionGeneSummary for MRPL30_CCDC57

check button Fusion gene summary
Fusion gene informationFusion gene name: MRPL30_CCDC57
Fusion gene ID: 22480
HgeneTgene
Gene symbol

MRPL30

CCDC57

Gene ID

51263

284001

Gene namemitochondrial ribosomal protein L30coiled-coil domain containing 57
SynonymsL28MT|L30MT|MRP-L28|MRP-L30|MRPL28|MRPL28M|RPML28-
Cytomap

2q11.2

17q25.3

Type of geneprotein-codingprotein-coding
Description39S ribosomal protein L30, mitochondrial39S ribosomal protein L28, mitochondrialmitochondrial large ribosomal subunit protein uL30mcoiled-coil domain-containing protein 57
Modification date2018052220180519
UniProtAcc

Q8TCC3

Q2TAC2

Ensembl transtripts involved in fusion geneENST00000410042, ENST00000338148, 
ENST00000409145, ENST00000465432, 
ENST00000392347, ENST00000389641, 
ENST00000392346, ENST00000327026, 
ENST00000392343, 
Fusion gene scores* DoF score5 X 4 X 4=809 X 6 X 9=486
# samples 511
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/486*10)=-2.14345279008112
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MRPL30 [Title/Abstract] AND CCDC57 [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
TCGALDPRADTCGA-EJ-5532-01AMRPL30chr2

99797712

+CCDC57chr17

80115824

-
* 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
intron-3CDSENST00000410042ENST00000392347MRPL30chr2

99797712

+CCDC57chr17

80115824

-
intron-3CDSENST00000410042ENST00000389641MRPL30chr2

99797712

+CCDC57chr17

80115824

-
intron-intronENST00000410042ENST00000392346MRPL30chr2

99797712

+CCDC57chr17

80115824

-
intron-5UTRENST00000410042ENST00000327026MRPL30chr2

99797712

+CCDC57chr17

80115824

-
intron-5UTRENST00000410042ENST00000392343MRPL30chr2

99797712

+CCDC57chr17

80115824

-
5UTR-3CDSENST00000338148ENST00000392347MRPL30chr2

99797712

+CCDC57chr17

80115824

-
5UTR-3CDSENST00000338148ENST00000389641MRPL30chr2

99797712

+CCDC57chr17

80115824

-
5UTR-intronENST00000338148ENST00000392346MRPL30chr2

99797712

+CCDC57chr17

80115824

-
5UTR-5UTRENST00000338148ENST00000327026MRPL30chr2

99797712

+CCDC57chr17

80115824

-
5UTR-5UTRENST00000338148ENST00000392343MRPL30chr2

99797712

+CCDC57chr17

80115824

-
5UTR-3CDSENST00000409145ENST00000392347MRPL30chr2

99797712

+CCDC57chr17

80115824

-
5UTR-3CDSENST00000409145ENST00000389641MRPL30chr2

99797712

+CCDC57chr17

80115824

-
5UTR-intronENST00000409145ENST00000392346MRPL30chr2

99797712

+CCDC57chr17

80115824

-
5UTR-5UTRENST00000409145ENST00000327026MRPL30chr2

99797712

+CCDC57chr17

80115824

-
5UTR-5UTRENST00000409145ENST00000392343MRPL30chr2

99797712

+CCDC57chr17

80115824

-
3UTR-3CDSENST00000465432ENST00000392347MRPL30chr2

99797712

+CCDC57chr17

80115824

-
3UTR-3CDSENST00000465432ENST00000389641MRPL30chr2

99797712

+CCDC57chr17

80115824

-
3UTR-intronENST00000465432ENST00000392346MRPL30chr2

99797712

+CCDC57chr17

80115824

-
3UTR-5UTRENST00000465432ENST00000327026MRPL30chr2

99797712

+CCDC57chr17

80115824

-
3UTR-5UTRENST00000465432ENST00000392343MRPL30chr2

99797712

+CCDC57chr17

80115824

-

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FusionProtFeatures for MRPL30_CCDC57


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MRPL30

Q8TCC3

CCDC57

Q2TAC2


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 MRPL30_CCDC57


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 MRPL30_CCDC57


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
MRPL30MARCKSL1, PLP2, SLC25A3, RPL13, ZNF22, RBMS3, MRPL28, RPL6, ZC3H3, RPS8, MRPL4, MRPL39, MRPL37, MRPS30, MRPL47, KRAS, MRPL50, MRPL9, MRPL1, MRPL10, MRPL41, MRPL42, MRPL35, MRPL12, IKZF5, PDGFB, ZNF317CCDC57KIAA0368, NUMA1, HSFX1, PER1, AES, AQP1, HBA2, MFAP1, PTPN7, RAB3IL1, NELFE, USP2, UTP14C, SFI1, USP15, ARL4A, PRPF31, FAM50B, GPKOW, PPHLN1, FAM90A1, TMEM100, TBC1D22B, CBX8, ROBO3, LENG1, PRR3, PRAM1, FAM161A, ZGPAT, CCDC120, NAPRT, HAUS1, SIRPA, CWF19L2, LINC00526, ZNF417, ZMAT2, CDC20B, PPP1R18, ZFC3H1, TSGA10IP, CCDC57, CEP57L1, C17orf59, CCDC67, OFD1, XRCC6


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 MRPL30_CCDC57


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 MRPL30_CCDC57


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