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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: 2596

FusionGeneSummary for ARHGEF7_SFTPA1

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGEF7_SFTPA1
Fusion gene ID: 2596
HgeneTgene
Gene symbol

ARHGEF7

SFTPA1

Gene ID

8874

653509

Gene nameRho guanine nucleotide exchange factor 7surfactant protein A1
SynonymsBETA-PIX|COOL-1|COOL1|Nbla10314|P50|P50BP|P85|P85COOL1|P85SPR|PAK3|PIXBCOLEC4|PSAP|PSP-A|PSPA|SFTP1|SFTPA1B|SP-A|SP-A1|SPA|SPA1
Cytomap

13q34

10q22.3

Type of geneprotein-codingprotein-coding
Descriptionrho guanine nucleotide exchange factor 7PAK-interacting exchange factor betaRho guanine nucleotide exchange factor (GEF) 7SH3 domain-containing proline-rich proteinpulmonary 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 date2018052220180527
UniProtAcc

Q14155

Q8IWL2

Ensembl transtripts involved in fusion geneENST00000317133, ENST00000375741, 
ENST00000375739, ENST00000370623, 
ENST00000544132, ENST00000218789, 
ENST00000375736, ENST00000426073, 
ENST00000375737, ENST00000375723, 
ENST00000478679, ENST00000483189, 
ENST00000372308, ENST00000428376, 
ENST00000398636, ENST00000372313, 
ENST00000419470, 
Fusion gene scores* DoF score11 X 9 X 7=6931 X 1 X 1=1
# samples 111
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneARHGEF7

GO:0043547

positive regulation of GTPase activity

21048939


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
TCGALDBRCATCGA-AN-A0AJ-01AARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
* 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
5CDS-5UTRENST00000317133ENST00000372308ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000317133ENST00000428376ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000317133ENST00000398636ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-intronENST00000317133ENST00000372313ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-intronENST00000317133ENST00000419470ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000375741ENST00000372308ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000375741ENST00000428376ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000375741ENST00000398636ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-intronENST00000375741ENST00000372313ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-intronENST00000375741ENST00000419470ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000375739ENST00000372308ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000375739ENST00000428376ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000375739ENST00000398636ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-intronENST00000375739ENST00000372313ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-intronENST00000375739ENST00000419470ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000370623ENST00000372308ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000370623ENST00000428376ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000370623ENST00000398636ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-intronENST00000370623ENST00000372313ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-intronENST00000370623ENST00000419470ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5UTR-5UTRENST00000544132ENST00000372308ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5UTR-5UTRENST00000544132ENST00000428376ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5UTR-5UTRENST00000544132ENST00000398636ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5UTR-intronENST00000544132ENST00000372313ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5UTR-intronENST00000544132ENST00000419470ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000218789ENST00000372308ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000218789ENST00000428376ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000218789ENST00000398636ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-intronENST00000218789ENST00000372313ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-intronENST00000218789ENST00000419470ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000375736ENST00000372308ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000375736ENST00000428376ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000375736ENST00000398636ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-intronENST00000375736ENST00000372313ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-intronENST00000375736ENST00000419470ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000426073ENST00000372308ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000426073ENST00000428376ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000426073ENST00000398636ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-intronENST00000426073ENST00000372313ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-intronENST00000426073ENST00000419470ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000375737ENST00000372308ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000375737ENST00000428376ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000375737ENST00000398636ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-intronENST00000375737ENST00000372313ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-intronENST00000375737ENST00000419470ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000375723ENST00000372308ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000375723ENST00000428376ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-5UTRENST00000375723ENST00000398636ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-intronENST00000375723ENST00000372313ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
5CDS-intronENST00000375723ENST00000419470ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
intron-5UTRENST00000478679ENST00000372308ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
intron-5UTRENST00000478679ENST00000428376ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
intron-5UTRENST00000478679ENST00000398636ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
intron-intronENST00000478679ENST00000372313ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
intron-intronENST00000478679ENST00000419470ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
intron-5UTRENST00000483189ENST00000372308ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
intron-5UTRENST00000483189ENST00000428376ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
intron-5UTRENST00000483189ENST00000398636ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
intron-intronENST00000483189ENST00000372313ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+
intron-intronENST00000483189ENST00000419470ARHGEF7chr13

111870227

+SFTPA1chr10

81371559

+

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FusionProtFeatures for ARHGEF7_SFTPA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ARHGEF7

Q14155

SFTPA1

Q8IWL2


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 ARHGEF7_SFTPA1


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 ARHGEF7_SFTPA1


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
ARHGEF7SHANK2, 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, POTEB3SFTPA1SFTPD, DMBT1, SFTPA1, PRDX6


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 ARHGEF7_SFTPA1


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 ARHGEF7_SFTPA1


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