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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: 31291

FusionGeneSummary for RIT1_SPATA13

check button Fusion gene summary
Fusion gene informationFusion gene name: RIT1_SPATA13
Fusion gene ID: 31291
HgeneTgene
Gene symbol

RIT1

SPATA13

Gene ID

64919

221178

Gene nameB cell CLL/lymphoma 11Bspermatogenesis associated 13
SynonymsATL1|ATL1-alpha|ATL1-beta|ATL1-delta|ATL1-gamma|CTIP-2|CTIP2|IMD49|RIT1|ZNF856B|hRIT1-alphaARHGEF29|ASEF2
Cytomap

14q32.2

13q12.12

Type of geneprotein-codingprotein-coding
DescriptionB-cell lymphoma/leukemia 11BB-cell CLL/lymphoma 11B (zinc finger protein)B-cell CLL/lymphoma 11B/T-cell receptor delta constant region fusion proteinB-cell lymphoma/leukaemia 11BBCL-11BBCL11B/TRDC fusionCOUP-TF-interacting protein 2hRit1radiation-spermatogenesis-associated protein 13APC-stimulated guanine nucleotide exchange factor 2adenomatous polyposis coli stimulated exchange factor 2
Modification date2018052320180519
UniProtAcc

Q92963

Q96N96

Ensembl transtripts involved in fusion geneENST00000368323, ENST00000539040, 
ENST00000368322, 
ENST00000424834, 
ENST00000382108, ENST00000382095, 
ENST00000474317, ENST00000399949, 
ENST00000409126, ENST00000343003, 
Fusion gene scores* DoF score4 X 3 X 4=486 X 4 X 4=96
# samples 46
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/96*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RIT1 [Title/Abstract] AND SPATA13 [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
ChiTaRS3.1BX506288RIT1chr1

155876313

+SPATA13chr13

24772401

+
* 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-intronENST00000368323ENST00000424834RIT1chr1

155876313

+SPATA13chr13

24772401

+
intron-intronENST00000368323ENST00000382108RIT1chr1

155876313

+SPATA13chr13

24772401

+
intron-intronENST00000368323ENST00000382095RIT1chr1

155876313

+SPATA13chr13

24772401

+
intron-intronENST00000368323ENST00000474317RIT1chr1

155876313

+SPATA13chr13

24772401

+
intron-intronENST00000368323ENST00000399949RIT1chr1

155876313

+SPATA13chr13

24772401

+
intron-intronENST00000368323ENST00000409126RIT1chr1

155876313

+SPATA13chr13

24772401

+
intron-intronENST00000368323ENST00000343003RIT1chr1

155876313

+SPATA13chr13

24772401

+
intron-intronENST00000539040ENST00000424834RIT1chr1

155876313

+SPATA13chr13

24772401

+
intron-intronENST00000539040ENST00000382108RIT1chr1

155876313

+SPATA13chr13

24772401

+
intron-intronENST00000539040ENST00000382095RIT1chr1

155876313

+SPATA13chr13

24772401

+
intron-intronENST00000539040ENST00000474317RIT1chr1

155876313

+SPATA13chr13

24772401

+
intron-intronENST00000539040ENST00000399949RIT1chr1

155876313

+SPATA13chr13

24772401

+
intron-intronENST00000539040ENST00000409126RIT1chr1

155876313

+SPATA13chr13

24772401

+
intron-intronENST00000539040ENST00000343003RIT1chr1

155876313

+SPATA13chr13

24772401

+
intron-intronENST00000368322ENST00000424834RIT1chr1

155876313

+SPATA13chr13

24772401

+
intron-intronENST00000368322ENST00000382108RIT1chr1

155876313

+SPATA13chr13

24772401

+
intron-intronENST00000368322ENST00000382095RIT1chr1

155876313

+SPATA13chr13

24772401

+
intron-intronENST00000368322ENST00000474317RIT1chr1

155876313

+SPATA13chr13

24772401

+
intron-intronENST00000368322ENST00000399949RIT1chr1

155876313

+SPATA13chr13

24772401

+
intron-intronENST00000368322ENST00000409126RIT1chr1

155876313

+SPATA13chr13

24772401

+
intron-intronENST00000368322ENST00000343003RIT1chr1

155876313

+SPATA13chr13

24772401

+

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FusionProtFeatures for RIT1_SPATA13


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RIT1

Q92963

SPATA13

Q96N96

Plays a crucial role in coupling NGF stimulation to theactivation of both EPHB2 and MAPK14 signaling pathways and in NGF-dependent neuronal differentiation. Involved in ELK1transactivation through the Ras-MAPK signaling cascade thatmediates a wide variety of cellular functions, including cellproliferation, survival, and differentiation.{ECO:0000269|PubMed:15632082, ECO:0000269|PubMed:23791108}.

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 RIT1_SPATA13


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 RIT1_SPATA13


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 RIT1_SPATA13


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 RIT1_SPATA13


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRIT1C3809233NOONAN SYNDROME 82UNIPROT
HgeneRIT1C0023893Liver Cirrhosis, Experimental1CTD_human