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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: 7767

FusionGeneSummary for CNTLN_RAB12

check button Fusion gene summary
Fusion gene informationFusion gene name: CNTLN_RAB12
Fusion gene ID: 7767
HgeneTgene
Gene symbol

CNTLN

RAB12

Gene ID

54875

201475

Gene namecentleinRAB12, member RAS oncogene family
SynonymsC9orf101|C9orf39|bA340N12.1-
Cytomap

9p22.2

18p11.22

Type of geneprotein-codingprotein-coding
Descriptioncentleincentlein, centrosomal proteincentrosomal proteinras-related protein Rab-12putative Ras-related protein Rab-12
Modification date2018051920180523
UniProtAcc

Q9NXG0

Q6IQ22

Ensembl transtripts involved in fusion geneENST00000380647, ENST00000262360, 
ENST00000425824, ENST00000380641, 
ENST00000484374, 
ENST00000329286, 
Fusion gene scores* DoF score3 X 3 X 3=275 X 4 X 4=80
# samples 45
** MAII scorelog2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CNTLN [Title/Abstract] AND RAB12 [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
TCGALDSARCTCGA-DX-AB2T-01ACNTLNchr9

17143374

+RAB12chr18

8624936

+
* 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-shiftENST00000380647ENST00000329286CNTLNchr9

17143374

+RAB12chr18

8624936

+
Frame-shiftENST00000262360ENST00000329286CNTLNchr9

17143374

+RAB12chr18

8624936

+
Frame-shiftENST00000425824ENST00000329286CNTLNchr9

17143374

+RAB12chr18

8624936

+
Frame-shiftENST00000380641ENST00000329286CNTLNchr9

17143374

+RAB12chr18

8624936

+
3UTR-3CDSENST00000484374ENST00000329286CNTLNchr9

17143374

+RAB12chr18

8624936

+

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FusionProtFeatures for CNTLN_RAB12


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

Q9NXG0

RAB12

Q6IQ22

Required for centrosome cohesion and recruitment ofCEP68 to centrosomes. {ECO:0000269|PubMed:24554434}. The small GTPases Rab are key regulators ofintracellular membrane trafficking, from the formation oftransport vesicles to their fusion with membranes. Rabs cyclebetween an inactive GDP-bound form and an active GTP-bound formthat is able to recruit to membranes different set of downstreameffectors directly responsible for vesicle formation, movement,tethering and fusion. That Rab may play a role in proteintransport from recycling endosomes to lysosomes regulating, forinstance, the degradation of the transferrin receptor. Involved inautophagy (By similarity). {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


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FusionGeneSequence for CNTLN_RAB12


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 CNTLN_RAB12


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
CNTLNSP1, BRCA1, HDAC6, TPM1, C9orf41, PRSS12, GOPCRAB12OPTN, GDI1, LRRTM1


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 CNTLN_RAB12


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 CNTLN_RAB12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRAB12C0151744Myocardial Ischemia1CTD_human