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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: 31275

FusionGeneSummary for RIN3_CCDC88C

check button Fusion gene summary
Fusion gene informationFusion gene name: RIN3_CCDC88C
Fusion gene ID: 31275
HgeneTgene
Gene symbol

RIN3

CCDC88C

Gene ID

79890

440193

Gene nameRas and Rab interactor 3coiled-coil domain containing 88C
Synonyms-DAPLE|HKRP2|KIAA1509|SCA40
Cytomap

14q32.12

14q32.11-q32.12

Type of geneprotein-codingprotein-coding
Descriptionras and Rab interactor 3RAB5 interacting protein 3ras interaction/interference protein 3protein DapleDvl-associating protein with a high frequency of leucine residueshook-related protein 2spinocerebellar ataxia 40
Modification date2018052220180523
UniProtAcc

Q8TB24

Q9P219

Ensembl transtripts involved in fusion geneENST00000216487, ENST00000418924, 
ENST00000557762, 		ENST00000389857, 
ENST00000331194, ENST00000389856, 
ENST00000553403, ENST00000554165, 
Fusion gene scores* DoF score2 X 3 X 2=127 X 7 X 5=245
# samples 38
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(8/245*10)=-1.61470984411521
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RIN3 [Title/Abstract] AND CCDC88C [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
TCGARVLUSCTCGA-77-A5G6-01ARIN3chr14

93081824

+CCDC88Cchr14

91826055

-
* 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-shiftENST00000216487ENST00000389857RIN3chr14

93081824

+CCDC88Cchr14

91826055

-
5CDS-intronENST00000216487ENST00000331194RIN3chr14

93081824

+CCDC88Cchr14

91826055

-
5CDS-intronENST00000216487ENST00000389856RIN3chr14

93081824

+CCDC88Cchr14

91826055

-
5CDS-intronENST00000216487ENST00000553403RIN3chr14

93081824

+CCDC88Cchr14

91826055

-
5CDS-intronENST00000216487ENST00000554165RIN3chr14

93081824

+CCDC88Cchr14

91826055

-
3UTR-3CDSENST00000418924ENST00000389857RIN3chr14

93081824

+CCDC88Cchr14

91826055

-
3UTR-intronENST00000418924ENST00000331194RIN3chr14

93081824

+CCDC88Cchr14

91826055

-
3UTR-intronENST00000418924ENST00000389856RIN3chr14

93081824

+CCDC88Cchr14

91826055

-
3UTR-intronENST00000418924ENST00000553403RIN3chr14

93081824

+CCDC88Cchr14

91826055

-
3UTR-intronENST00000418924ENST00000554165RIN3chr14

93081824

+CCDC88Cchr14

91826055

-
intron-3CDSENST00000557762ENST00000389857RIN3chr14

93081824

+CCDC88Cchr14

91826055

-
intron-intronENST00000557762ENST00000331194RIN3chr14

93081824

+CCDC88Cchr14

91826055

-
intron-intronENST00000557762ENST00000389856RIN3chr14

93081824

+CCDC88Cchr14

91826055

-
intron-intronENST00000557762ENST00000553403RIN3chr14

93081824

+CCDC88Cchr14

91826055

-
intron-intronENST00000557762ENST00000554165RIN3chr14

93081824

+CCDC88Cchr14

91826055

-

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FusionProtFeatures for RIN3_CCDC88C


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RIN3

Q8TB24

CCDC88C

Q9P219

Ras effector protein that functions as a guaninenucleotide exchange (GEF) for RAB5B and RAB31, by exchanging boundGDP for free GTP. Required for normal RAB31 function.{ECO:0000269|PubMed:12972505, ECO:0000269|PubMed:21586568}. Negative regulator of the canonical Wnt signalingpathway, acting downstream of DVL to inhibit CTNNB1/Beta-cateninstabilization (By similarity). May also activate the JNK signalingpathway (PubMed:25062847). {ECO:0000250|UniProtKB:Q6VGS5,ECO:0000269|PubMed:25062847}.

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 RIN3_CCDC88C


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 RIN3_CCDC88C


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
RIN3RAB5B, RAB5A, BIN1, RABAC1, RGS2, TNFAIP1, MYC, ASB8, DOK3, FAM127C, MPEG1, PLB1, SPATA12, SPRY4, TM4SF19, TSSK3, ASB3, CRK, CRKL, CSRP3, CYP2C8, CYP46A1, EPS8L2, EZH2, FAM46A, GATA1, GRAP2, ID2, KCTD17, LCK, MT2A, POLR3F, PSMD9, SUV39H1, SYMPK, TGM1, TSC1, ZBTB24, ZNF639, ZNF655, ZNF71CCDC88CMAPK8, ITSN2, APP, SMURF1, BAG3, LATS2, GNAI3, MCM7, WHSC1, KATNA1, WDFY1, RNASE7, ALDH1L1


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 RIN3_CCDC88C


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 RIN3_CCDC88C


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRIN3C0029401Osteitis Deformans1CTD_human