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Fusion gene ID: 19038

FusionGeneSummary for KLHL2_ARHGEF7

Fusion gene summary

Fusion gene information	Fusion gene name: KLHL2_ARHGEF7
	Fusion gene ID: 19038
		Hgene	Tgene
	Gene symbol	KLHL2	ARHGEF7
	Gene ID	11275	8874
	Gene name	kelch like family member 2	Rho guanine nucleotide exchange factor 7
	Synonyms	ABP-KELCH\|MAV\|MAYVEN	BETA-PIX\|COOL-1\|COOL1\|Nbla10314\|P50\|P50BP\|P85\|P85COOL1\|P85SPR\|PAK3\|PIXB
	Cytomap	4q32.3	13q34
	Type of gene	protein-coding	protein-coding
	Description	kelch-like protein 2actin-binding protein Mayvenkelch-like 2, Mayven	rho guanine nucleotide exchange factor 7PAK-interacting exchange factor betaRho guanine nucleotide exchange factor (GEF) 7SH3 domain-containing proline-rich protein
	Modification date	20180522	20180522
	UniProtAcc	O95198	Q14155
	Ensembl transtripts involved in fusion gene	ENST00000226725, ENST00000514860, ENST00000538127, ENST00000421009, ENST00000506761, ENST00000509028,	ENST00000317133, ENST00000375741, ENST00000375739, ENST00000370623, ENST00000544132, ENST00000218789, ENST00000375736, ENST00000426073, ENST00000375737, ENST00000375723, ENST00000478679, ENST00000483189,
Fusion gene scores	* DoF score	4 X 3 X 3=36	6 X 7 X 4=168
	# samples	4	7
	** MAII score	log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: KLHL2 [Title/Abstract] AND ARHGEF7 [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
Tgene	ARHGEF7	GO:0043547	positive regulation of GTPase activity	21048939

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
TCGA	RV	HNSC	TCGA-QK-A8ZA-01A	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+

* 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
Frame-shit	ENST00000226725	ENST00000317133	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000226725	ENST00000375741	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000226725	ENST00000375739	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000226725	ENST00000370623	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000226725	ENST00000544132	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000226725	ENST00000218789	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000226725	ENST00000375736	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000226725	ENST00000426073	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000226725	ENST00000375737	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000226725	ENST00000375723	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000226725	ENST00000478679	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
5CDS-intron	ENST00000226725	ENST00000483189	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000514860	ENST00000317133	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000514860	ENST00000375741	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000514860	ENST00000375739	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000514860	ENST00000370623	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000514860	ENST00000544132	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000514860	ENST00000218789	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000514860	ENST00000375736	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000514860	ENST00000426073	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000514860	ENST00000375737	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000514860	ENST00000375723	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000514860	ENST00000478679	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
5CDS-intron	ENST00000514860	ENST00000483189	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000538127	ENST00000317133	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000538127	ENST00000375741	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000538127	ENST00000375739	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000538127	ENST00000370623	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000538127	ENST00000544132	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000538127	ENST00000218789	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000538127	ENST00000375736	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000538127	ENST00000426073	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000538127	ENST00000375737	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000538127	ENST00000375723	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000538127	ENST00000478679	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
5CDS-intron	ENST00000538127	ENST00000483189	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000421009	ENST00000317133	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000421009	ENST00000375741	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000421009	ENST00000375739	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000421009	ENST00000370623	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000421009	ENST00000544132	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000421009	ENST00000218789	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000421009	ENST00000375736	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000421009	ENST00000426073	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000421009	ENST00000375737	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000421009	ENST00000375723	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000421009	ENST00000478679	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
5CDS-intron	ENST00000421009	ENST00000483189	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000506761	ENST00000317133	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000506761	ENST00000375741	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000506761	ENST00000375739	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000506761	ENST00000370623	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000506761	ENST00000544132	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000506761	ENST00000218789	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000506761	ENST00000375736	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000506761	ENST00000426073	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000506761	ENST00000375737	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000506761	ENST00000375723	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
Frame-shit	ENST00000506761	ENST00000478679	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
5CDS-intron	ENST00000506761	ENST00000483189	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
3UTR-3CDS	ENST00000509028	ENST00000317133	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
3UTR-3CDS	ENST00000509028	ENST00000375741	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
3UTR-3CDS	ENST00000509028	ENST00000375739	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
3UTR-3CDS	ENST00000509028	ENST00000370623	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
3UTR-3CDS	ENST00000509028	ENST00000544132	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
3UTR-3CDS	ENST00000509028	ENST00000218789	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
3UTR-3CDS	ENST00000509028	ENST00000375736	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
3UTR-3CDS	ENST00000509028	ENST00000426073	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
3UTR-3CDS	ENST00000509028	ENST00000375737	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
3UTR-3CDS	ENST00000509028	ENST00000375723	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
3UTR-3CDS	ENST00000509028	ENST00000478679	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+
3UTR-intron	ENST00000509028	ENST00000483189	KLHL2	chr4	166184511	+	ARHGEF7	chr13	111929934	+

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FusionProtFeatures for KLHL2_ARHGEF7

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

Hgene	Tgene
KLHL2 O95198	ARHGEF7 Q14155
Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3ubiquitin-protein ligase complex that mediates the ubiquitinationof target proteins, such as NPTXR, leading most often to theirproteasomal degradation (By similarity). Responsible fordegradative ubiquitination of the WNK kinases WNK1, WNK3 and WNK4.Plays a role in the reorganization of the actin cytoskeleton.Promotes growth of cell projections in oligodendrocyte precursors.{ECO:0000250, ECO:0000269\|PubMed:15715669,ECO:0000269\|PubMed:23838290}.

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

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FusionGeneSequence for KLHL2_ARHGEF7

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 KLHL2_ARHGEF7

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
KLHL2	KLHL12, CUL3, KEAP1, NACC1, KLHL2, ACTC1, WNK1, WNK2, WNK3, WNK4, UBE2D1, CLK2, BCAM, SDCBP, UBE2C, TNPO2, TXNDC12, TMA16, CCDC43, ZNF114, ZFP36, TSPAN5, DCTN2, KLHL3, DCTN1, UCK1, KLHL17, TRIM47, PIK3C2B, SCYL1, TRIM9, DNAJC13, XIAP, USP28, FAM160B1, SIPA1L1, FBXL17, TRIM8, ACTR10, CUL7, FBXW8, UPRT, DCTN6, FBXO33, ACIN1, DCTN5, DCTN4, UCKL1, ACTR1B, PHLDB3, ARHGEF7, GIT2, CCDC8, DCTN3, GPRASP2, DIABLO, ACTR1A, EPDR1, TCF25, CASK, YARS2, RRBP1, SAMD1, OBSL1, IMPDH1, APPL1, RNPS1	ARHGEF7	SHANK2, SHANK1, CBL, SHANK3, TUBB3, GIT1, PPM1E, PPM1F, PAK1, PAK3, CDC42, CBLB, CALM1, ITCH, LRRK2, PAK2, ADAM15, ARHGEF6, GRB2, ERBB2IP, MEOX2, EGFR, RAC1, NCK2, HSPB1, KDM2A, NTRK1, MED4, SLC33A1, SCRIB, GIT2, FBXO28, LPXN, NCKIPSD, ICAM1, EXOC1, KLHL2, CAMK4, SYNC, C1orf106, POTEB3

- 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

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RelatedDrugs for KLHL2_ARHGEF7

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

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RelatedDiseases for KLHL2_ARHGEF7

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source

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Fusion gene ID: 19038

FusionGeneSummary for KLHL2_ARHGEF7

FusionProtFeatures for KLHL2_ARHGEF7

FusionGeneSequence for KLHL2_ARHGEF7

FusionGenePPI for KLHL2_ARHGEF7

RelatedDrugs for KLHL2_ARHGEF7

RelatedDiseases for KLHL2_ARHGEF7