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Fusion gene ID: 2600 |
FusionGeneSummary for ARHGEF9_CISD2 |
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Fusion gene information | Fusion gene name: ARHGEF9_CISD2 | Fusion gene ID: 2600 | Hgene | Tgene | Gene symbol | ARHGEF9 | CISD2 | Gene ID | 23229 | 493856 |
Gene name | Cdc42 guanine nucleotide exchange factor 9 | CDGSH iron sulfur domain 2 | |
Synonyms | COLLYBISTIN|EIEE8|HPEM-2|PEM-2|PEM2 | ERIS|Miner1|NAF-1|WFS2|ZCD2 | |
Cytomap | Xq11.1 | 4q24 | |
Type of gene | protein-coding | protein-coding | |
Description | rho guanine nucleotide exchange factor 9Cdc42 guanine nucleotide exchange factor (GEF) 9PEM-2 homologhPEM-2 collybistinrac/Cdc42 guanine nucleotide exchange factor 9 | CDGSH iron-sulfur domain-containing protein 2endoplasmic reticulum intermembrane small proteinmitoNEET-related 1 proteinnutrient-deprivation autophagy factor-1zinc finger, CDGSH-type domain 2 | |
Modification date | 20180519 | 20180527 | |
UniProtAcc | O43307 | Q8N5K1 | |
Ensembl transtripts involved in fusion gene | ENST00000253401, ENST00000374878, ENST00000374870, ENST00000437457, ENST00000495564, ENST00000374872, ENST00000433323, | ENST00000273986, ENST00000503643, | |
Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 3 X 2 X 3=18 |
# samples | 3 | 3 | |
** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). 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: ARHGEF9 [Title/Abstract] AND CISD2 [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 |
![]() (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-A2-A0EM-01A | ARHGEF9 | chrX | 62974195 | - | CISD2 | chr4 | 103806373 | + |
* 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 |
intron-3CDS | ENST00000253401 | ENST00000273986 | ARHGEF9 | chrX | 62974195 | - | CISD2 | chr4 | 103806373 | + |
intron-3CDS | ENST00000253401 | ENST00000503643 | ARHGEF9 | chrX | 62974195 | - | CISD2 | chr4 | 103806373 | + |
intron-3CDS | ENST00000374878 | ENST00000273986 | ARHGEF9 | chrX | 62974195 | - | CISD2 | chr4 | 103806373 | + |
intron-3CDS | ENST00000374878 | ENST00000503643 | ARHGEF9 | chrX | 62974195 | - | CISD2 | chr4 | 103806373 | + |
5UTR-3CDS | ENST00000374870 | ENST00000273986 | ARHGEF9 | chrX | 62974195 | - | CISD2 | chr4 | 103806373 | + |
5UTR-3CDS | ENST00000374870 | ENST00000503643 | ARHGEF9 | chrX | 62974195 | - | CISD2 | chr4 | 103806373 | + |
intron-3CDS | ENST00000437457 | ENST00000273986 | ARHGEF9 | chrX | 62974195 | - | CISD2 | chr4 | 103806373 | + |
intron-3CDS | ENST00000437457 | ENST00000503643 | ARHGEF9 | chrX | 62974195 | - | CISD2 | chr4 | 103806373 | + |
intron-3CDS | ENST00000495564 | ENST00000273986 | ARHGEF9 | chrX | 62974195 | - | CISD2 | chr4 | 103806373 | + |
intron-3CDS | ENST00000495564 | ENST00000503643 | ARHGEF9 | chrX | 62974195 | - | CISD2 | chr4 | 103806373 | + |
5UTR-3CDS | ENST00000374872 | ENST00000273986 | ARHGEF9 | chrX | 62974195 | - | CISD2 | chr4 | 103806373 | + |
5UTR-3CDS | ENST00000374872 | ENST00000503643 | ARHGEF9 | chrX | 62974195 | - | CISD2 | chr4 | 103806373 | + |
intron-3CDS | ENST00000433323 | ENST00000273986 | ARHGEF9 | chrX | 62974195 | - | CISD2 | chr4 | 103806373 | + |
intron-3CDS | ENST00000433323 | ENST00000503643 | ARHGEF9 | chrX | 62974195 | - | CISD2 | chr4 | 103806373 | + |
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FusionProtFeatures for ARHGEF9_CISD2 |
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Hgene | Tgene |
ARHGEF9 | CISD2 |
Acts as guanine nucleotide exchange factor (GEF) forCDC42. Promotes formation of GPHN clusters.{ECO:0000269|PubMed:10559246}. | Regulator of autophagy that contributes to antagonizeBECN1-mediated cellular autophagy at the endoplasmic reticulum.Participates in the interaction of BCL2 with BECN1 and is requiredfor BCL2-mediated depression of endoplasmic reticulum Ca(2+)stores during autophagy. Contributes to BIK-initiated autophagy,while it is not involved in BIK-dependent activation of caspases.Involved in life span control, probably via its function asregulator of autophagy. {ECO:0000269|PubMed:17846994,ECO:0000269|PubMed:20010695}. |
![]() * 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 ARHGEF9_CISD2 |
![]() (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 ARHGEF9_CISD2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ARHGEF9 | GPHN, SMURF1, PLEKHA5, KHDRBS1 | CISD2 | ELAVL1, BCL2, SPP1, APP, LMNA, NRG1, HMOX2, HLA-C, SLC39A4, LTBR, CHRNA9, COX4I1, VDAC1, VDAC2, VDAC3, TCTN2, TCTN3, TMEM216, COQ9, NDUFA4, TMPRSS3, KIR3DL2, LRRTM1, STS, ASIC4, PVR, IL1R2, PCDHAC1, TMEM206, KIAA1161, CHRND, STIM2, PCDHB7, IL17RB, PCDHA4, TMEM63A |
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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 ARHGEF9_CISD2 |
![]() (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 ARHGEF9_CISD2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ARHGEF9 | C1845102 | Hyperekplexia and Epilepsy | 2 | CTD_human;ORPHANET;UNIPROT |
Hgene | ARHGEF9 | C1136249 | Mental Retardation, X-Linked | 1 | CTD_human |
Tgene | CISD2 | C1858028 | WOLFRAM SYNDROME 2 | 1 | CTD_human |