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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: 30117

FusionGeneSummary for RABGAP1L_RNF212

check button Fusion gene summary
Fusion gene informationFusion gene name: RABGAP1L_RNF212
Fusion gene ID: 30117
HgeneTgene
Gene symbol

RABGAP1L

RNF212

Gene ID

9910

285498

Gene nameRAB GTPase activating protein 1 likering finger protein 212
SynonymsHHL|TBC1D18ZHP3
Cytomap

1q25.1

4p16.3

Type of geneprotein-codingprotein-coding
Descriptionrab GTPase-activating protein 1-likeTBC1 domain family, member 18expressed in hematopoietic cells, heart, liver (HLL)probable E3 SUMO-protein ligase RNF212probable E3 SUMO-protein transferase RNF212
Modification date2018052320180523
UniProtAcc

Q5R372

Q495C1

Ensembl transtripts involved in fusion geneENST00000367689, ENST00000357444, 
ENST00000251507, ENST00000325589, 
ENST00000367686, ENST00000367687, 
ENST00000347255, ENST00000489615, 
ENST00000478442, ENST00000486220, 
ENST00000392064, ENST00000367688, 
ENST00000382968, ENST00000433731, 
ENST00000333673, ENST00000505730, 
Fusion gene scores* DoF score10 X 8 X 6=4803 X 3 X 2=18
# samples 113
** MAII scorelog2(11/480*10)=-2.12553088208386
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RABGAP1L [Title/Abstract] AND RNF212 [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
HgeneRABGAP1L

GO:0032880

regulation of protein localization

16923123


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
ChiTaRS3.1AW173344RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
* 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-intronENST00000367689ENST00000382968RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000367689ENST00000433731RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000367689ENST00000333673RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000367689ENST00000505730RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000357444ENST00000382968RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000357444ENST00000433731RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000357444ENST00000333673RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000357444ENST00000505730RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000251507ENST00000382968RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000251507ENST00000433731RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000251507ENST00000333673RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000251507ENST00000505730RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000325589ENST00000382968RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000325589ENST00000433731RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000325589ENST00000333673RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000325589ENST00000505730RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000367686ENST00000382968RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000367686ENST00000433731RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000367686ENST00000333673RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000367686ENST00000505730RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000367687ENST00000382968RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000367687ENST00000433731RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000367687ENST00000333673RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000367687ENST00000505730RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000347255ENST00000382968RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000347255ENST00000433731RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000347255ENST00000333673RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000347255ENST00000505730RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000489615ENST00000382968RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000489615ENST00000433731RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000489615ENST00000333673RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000489615ENST00000505730RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000478442ENST00000382968RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000478442ENST00000433731RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000478442ENST00000333673RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000478442ENST00000505730RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000486220ENST00000382968RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000486220ENST00000433731RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000486220ENST00000333673RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000486220ENST00000505730RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000392064ENST00000382968RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000392064ENST00000433731RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000392064ENST00000333673RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000392064ENST00000505730RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000367688ENST00000382968RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000367688ENST00000433731RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000367688ENST00000333673RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+
intron-intronENST00000367688ENST00000505730RABGAP1Lchr1

174215060

-RNF212chr4

1103113

+

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FusionProtFeatures for RABGAP1L_RNF212


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RABGAP1L

Q5R372

RNF212

Q495C1

SUMO E3 ligase that acts as a regulator of crossing-overduring meiosis: required to couple chromosome synapsis to theformation of crossover-specific recombination complexes. Localizesto recombination sites and stabilizes meiosis-specificrecombination factors, such as MutS-gamma complex proteins (MSH4and MSH5) and TEX11. May mediate sumoylation of target proteinsMSH4 and/or MSH5, leading to enhance their binding torecombination sites. Acts as a limiting factor for crossoverdesignation and/or reinforcement and plays an antagonist role withCCNB1IP1/HEI10 in the regulation of meiotic recombination (Bysimilarity). {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 RABGAP1L_RNF212


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 RABGAP1L_RNF212


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 RABGAP1L_RNF212


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 RABGAP1L_RNF212


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRABGAP1LC0023893Liver Cirrhosis, Experimental1CTD_human