	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 30117

FusionGeneSummary for RABGAP1L_RNF212

Fusion gene summary

Fusion gene information	Fusion gene name: RABGAP1L_RNF212
	Fusion gene ID: 30117
		Hgene	Tgene
	Gene symbol	RABGAP1L	RNF212
	Gene ID	9910	285498
	Gene name	RAB GTPase activating protein 1 like	ring finger protein 212
	Synonyms	HHL\|TBC1D18	ZHP3
	Cytomap	1q25.1	4p16.3
	Type of gene	protein-coding	protein-coding
	Description	rab 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 date	20180523	20180523
	UniProtAcc	Q5R372	Q495C1
	Ensembl transtripts involved in fusion gene	ENST00000367689, ENST00000357444, ENST00000251507, ENST00000325589, ENST00000367686, ENST00000367687, ENST00000347255, ENST00000489615, ENST00000478442, ENST00000486220, ENST00000392064, ENST00000367688,	ENST00000382968, ENST00000433731, ENST00000333673, ENST00000505730,
Fusion gene scores	* DoF score	10 X 8 X 6=480	3 X 3 X 2=18
	# samples	11	3
	** MAII score	log2(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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	RABGAP1L	GO:0032880	regulation of protein localization	16923123

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS3.1			AW173344	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
intron-intron	ENST00000367689	ENST00000382968	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000367689	ENST00000433731	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000367689	ENST00000333673	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000367689	ENST00000505730	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000357444	ENST00000382968	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000357444	ENST00000433731	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000357444	ENST00000333673	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000357444	ENST00000505730	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000251507	ENST00000382968	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000251507	ENST00000433731	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000251507	ENST00000333673	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000251507	ENST00000505730	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000325589	ENST00000382968	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000325589	ENST00000433731	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000325589	ENST00000333673	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000325589	ENST00000505730	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000367686	ENST00000382968	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000367686	ENST00000433731	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000367686	ENST00000333673	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000367686	ENST00000505730	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000367687	ENST00000382968	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000367687	ENST00000433731	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000367687	ENST00000333673	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000367687	ENST00000505730	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000347255	ENST00000382968	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000347255	ENST00000433731	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000347255	ENST00000333673	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000347255	ENST00000505730	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000489615	ENST00000382968	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000489615	ENST00000433731	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000489615	ENST00000333673	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000489615	ENST00000505730	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000478442	ENST00000382968	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000478442	ENST00000433731	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000478442	ENST00000333673	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000478442	ENST00000505730	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000486220	ENST00000382968	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000486220	ENST00000433731	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000486220	ENST00000333673	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000486220	ENST00000505730	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000392064	ENST00000382968	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000392064	ENST00000433731	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000392064	ENST00000333673	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000392064	ENST00000505730	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000367688	ENST00000382968	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000367688	ENST00000433731	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000367688	ENST00000333673	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+
intron-intron	ENST00000367688	ENST00000505730	RABGAP1L	chr1	174215060	-	RNF212	chr4	1103113	+

Top

FusionProtFeatures for RABGAP1L_RNF212

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
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}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Top

FusionGeneSequence for RABGAP1L_RNF212

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).

Top

FusionGenePPI for RABGAP1L_RNF212

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

Top

RelatedDrugs for RABGAP1L_RNF212

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

Top

RelatedDiseases for RABGAP1L_RNF212

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	RABGAP1L	C0023893	Liver Cirrhosis, Experimental	1	CTD_human

Home

Download

Statistics

Examples

Help

Contact

Fusion gene ID: 30117

FusionGeneSummary for RABGAP1L_RNF212

FusionProtFeatures for RABGAP1L_RNF212

FusionGeneSequence for RABGAP1L_RNF212

FusionGenePPI for RABGAP1L_RNF212

RelatedDrugs for RABGAP1L_RNF212

RelatedDiseases for RABGAP1L_RNF212