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Fusion gene ID: 2596 |
FusionGeneSummary for ARHGEF7_SFTPA1 |
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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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ARHGEF7 | GO:0043547 | positive regulation of GTPase activity | 21048939 |
![]() (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 |
![]() * 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 |
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Hgene | Tgene |
ARHGEF7 | SFTPA1 |
![]() * 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 |
![]() (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 |
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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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ARHGEF7_SFTPA1 |
![]() (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 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |