	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 2596

FusionGeneSummary for ARHGEF7_SFTPA1

Fusion gene summary

Fusion gene information	Fusion gene name: ARHGEF7_SFTPA1
	Fusion gene ID: 2596
		Hgene	Tgene
	Gene symbol	ARHGEF7	SFTPA1
	Gene ID	8874	653509
	Gene name	Rho guanine nucleotide exchange factor 7	surfactant protein A1
	Synonyms	BETA-PIX\|COOL-1\|COOL1\|Nbla10314\|P50\|P50BP\|P85\|P85COOL1\|P85SPR\|PAK3\|PIXB	COLEC4\|PSAP\|PSP-A\|PSPA\|SFTP1\|SFTPA1B\|SP-A\|SP-A1\|SPA\|SPA1
	Cytomap	13q34	10q22.3
	Type of gene	protein-coding	protein-coding
	Description	rho guanine nucleotide exchange factor 7PAK-interacting exchange factor betaRho guanine nucleotide exchange factor (GEF) 7SH3 domain-containing proline-rich protein	pulmonary surfactant-associated protein A135 kDa pulmonary surfactant-associated proteinSP-A1 betaSP-A1 deltaSP-A1 epsilonSP-A1 gammaalveolar proteinosis proteincollectin-4surfactant protein A1 variant AB'D' 6Asurfactant protein A1 variant AB'D'
	Modification date	20180522	20180527
	UniProtAcc	Q14155	Q8IWL2
	Ensembl transtripts involved in fusion gene	ENST00000317133, ENST00000375741, ENST00000375739, ENST00000370623, ENST00000544132, ENST00000218789, ENST00000375736, ENST00000426073, ENST00000375737, ENST00000375723, ENST00000478679, ENST00000483189,	ENST00000372308, ENST00000428376, ENST00000398636, ENST00000372313, ENST00000419470,
Fusion gene scores	* DoF score	11 X 9 X 7=693	1 X 1 X 1=1
	# samples	11	1
	** MAII score	log2(11/693*10)=-2.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(1/1*10)=3.32192809488736
Context	PubMed: ARHGEF7 [Title/Abstract] AND SFTPA1 [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	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	LD	BRCA	TCGA-AN-A0AJ-01A	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+

* 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
5CDS-5UTR	ENST00000317133	ENST00000372308	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000317133	ENST00000428376	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000317133	ENST00000398636	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-intron	ENST00000317133	ENST00000372313	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-intron	ENST00000317133	ENST00000419470	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000375741	ENST00000372308	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000375741	ENST00000428376	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000375741	ENST00000398636	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-intron	ENST00000375741	ENST00000372313	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-intron	ENST00000375741	ENST00000419470	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000375739	ENST00000372308	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000375739	ENST00000428376	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000375739	ENST00000398636	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-intron	ENST00000375739	ENST00000372313	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-intron	ENST00000375739	ENST00000419470	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000370623	ENST00000372308	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000370623	ENST00000428376	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000370623	ENST00000398636	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-intron	ENST00000370623	ENST00000372313	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-intron	ENST00000370623	ENST00000419470	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5UTR-5UTR	ENST00000544132	ENST00000372308	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5UTR-5UTR	ENST00000544132	ENST00000428376	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5UTR-5UTR	ENST00000544132	ENST00000398636	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5UTR-intron	ENST00000544132	ENST00000372313	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5UTR-intron	ENST00000544132	ENST00000419470	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000218789	ENST00000372308	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000218789	ENST00000428376	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000218789	ENST00000398636	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-intron	ENST00000218789	ENST00000372313	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-intron	ENST00000218789	ENST00000419470	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000375736	ENST00000372308	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000375736	ENST00000428376	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000375736	ENST00000398636	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-intron	ENST00000375736	ENST00000372313	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-intron	ENST00000375736	ENST00000419470	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000426073	ENST00000372308	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000426073	ENST00000428376	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000426073	ENST00000398636	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-intron	ENST00000426073	ENST00000372313	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-intron	ENST00000426073	ENST00000419470	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000375737	ENST00000372308	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000375737	ENST00000428376	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000375737	ENST00000398636	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-intron	ENST00000375737	ENST00000372313	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-intron	ENST00000375737	ENST00000419470	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000375723	ENST00000372308	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000375723	ENST00000428376	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-5UTR	ENST00000375723	ENST00000398636	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-intron	ENST00000375723	ENST00000372313	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
5CDS-intron	ENST00000375723	ENST00000419470	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
intron-5UTR	ENST00000478679	ENST00000372308	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
intron-5UTR	ENST00000478679	ENST00000428376	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
intron-5UTR	ENST00000478679	ENST00000398636	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
intron-intron	ENST00000478679	ENST00000372313	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
intron-intron	ENST00000478679	ENST00000419470	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
intron-5UTR	ENST00000483189	ENST00000372308	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
intron-5UTR	ENST00000483189	ENST00000428376	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
intron-5UTR	ENST00000483189	ENST00000398636	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
intron-intron	ENST00000483189	ENST00000372313	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+
intron-intron	ENST00000483189	ENST00000419470	ARHGEF7	chr13	111870227	+	SFTPA1	chr10	81371559	+

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FusionProtFeatures for ARHGEF7_SFTPA1

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

Hgene	Tgene
ARHGEF7 Q14155	SFTPA1 Q8IWL2

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 ARHGEF7_SFTPA1

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 ARHGEF7_SFTPA1

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
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	SFTPA1	SFTPD, DMBT1, SFTPA1, PRDX6

- 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 ARHGEF7_SFTPA1

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 ARHGEF7_SFTPA1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source

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Fusion gene ID: 2596

FusionGeneSummary for ARHGEF7_SFTPA1

FusionProtFeatures for ARHGEF7_SFTPA1

FusionGeneSequence for ARHGEF7_SFTPA1

FusionGenePPI for ARHGEF7_SFTPA1

RelatedDrugs for ARHGEF7_SFTPA1

RelatedDiseases for ARHGEF7_SFTPA1