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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: 30376

FusionGeneSummary for RAP1A_SEL1L

check button Fusion gene summary
Fusion gene informationFusion gene name: RAP1A_SEL1L
Fusion gene ID: 30376
HgeneTgene
Gene symbol

RAP1A

SEL1L

Gene ID

5906

6400

Gene nameRAP1A, member of RAS oncogene familySEL1L, ERAD E3 ligase adaptor subunit
SynonymsC21KG|G-22K|KREV-1|KREV1|RAP1|SMGP21PRO1063|SEL1-LIKE|SEL1L1
Cytomap

1p13.2

14q31.1

Type of geneprotein-codingprotein-coding
Descriptionras-related protein Rap-1AGTP-binding protein smg p21ARas-related protein Krev-1protein sel-1 homolog 1Suppressor of lin 12 (sel-1), C. elegans, homolog ofsel-1 suppressor of lin-12-like 1suppressor of lin-12-like protein 1
Modification date2018052220180519
UniProtAcc

P62834

Q9UBV2

Ensembl transtripts involved in fusion geneENST00000356415, ENST00000436150, 
ENST00000369709, ENST00000545460, 
ENST00000494982, 
ENST00000336735, 
ENST00000555824, 
Fusion gene scores* DoF score9 X 10 X 5=4503 X 4 X 2=24
# samples 114
** MAII scorelog2(11/450*10)=-2.03242147769238
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RAP1A [Title/Abstract] AND SEL1L [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
HgeneRAP1A

GO:0015031

protein transport

17916086

HgeneRAP1A

GO:0071320

cellular response to cAMP

21840392


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
ChiTaRS3.1BF329177RAP1Achr1

112203562

-SEL1Lchr14

81969115

-
* 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-3CDSENST00000356415ENST00000336735RAP1Achr1

112203562

-SEL1Lchr14

81969115

-
intron-3CDSENST00000356415ENST00000555824RAP1Achr1

112203562

-SEL1Lchr14

81969115

-
intron-3CDSENST00000436150ENST00000336735RAP1Achr1

112203562

-SEL1Lchr14

81969115

-
intron-3CDSENST00000436150ENST00000555824RAP1Achr1

112203562

-SEL1Lchr14

81969115

-
intron-3CDSENST00000369709ENST00000336735RAP1Achr1

112203562

-SEL1Lchr14

81969115

-
intron-3CDSENST00000369709ENST00000555824RAP1Achr1

112203562

-SEL1Lchr14

81969115

-
intron-3CDSENST00000545460ENST00000336735RAP1Achr1

112203562

-SEL1Lchr14

81969115

-
intron-3CDSENST00000545460ENST00000555824RAP1Achr1

112203562

-SEL1Lchr14

81969115

-
intron-3CDSENST00000494982ENST00000336735RAP1Achr1

112203562

-SEL1Lchr14

81969115

-
intron-3CDSENST00000494982ENST00000555824RAP1Achr1

112203562

-SEL1Lchr14

81969115

-

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FusionProtFeatures for RAP1A_SEL1L


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RAP1A

P62834

SEL1L

Q9UBV2

Induces morphological reversion of a cell linetransformed by a Ras oncogene. Counteracts the mitogenic functionof Ras, at least partly because it can interact with Ras GAPs andRAF in a competitive manner. Together with ITGB1BP1, regulatesKRIT1 localization to microtubules and membranes. Plays a role innerve growth factor (NGF)-induced neurite outgrowth. Plays a rolein the regulation of embryonic blood vessel formation. Involved inthe establishment of basal endothelial barrier function. May beinvolved in the regulation of the vascular endothelial growthfactor receptor KDR expression at endothelial cell-cell junctions.{ECO:0000269|PubMed:17916086, ECO:0000269|PubMed:21840392}. Plays a role in the endoplasmic reticulum qualitycontrol (ERQC) system also called ER-associated degradation (ERAD)involved in ubiquitin-dependent degradation of misfoldedendoplasmic reticulum proteins (PubMed:16186509). Enhances SYVN1stability. Plays a role in LPL maturation and secretion. Requiredfor normal differentiation of the pancreas epithelium, and fornormal exocrine function and survival of pancreatic cells. Mayplay a role in Notch signaling. {ECO:0000250|UniProtKB:Q9Z2G6,ECO:0000269|PubMed:16186509}.

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 RAP1A_SEL1L


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 RAP1A_SEL1L


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 RAP1A_SEL1L


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 RAP1A_SEL1L


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