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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: 2600

FusionGeneSummary for ARHGEF9_CISD2

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGEF9_CISD2
Fusion gene ID: 2600
HgeneTgene
Gene symbol

ARHGEF9

CISD2

Gene ID

23229

493856

Gene nameCdc42 guanine nucleotide exchange factor 9CDGSH iron sulfur domain 2
SynonymsCOLLYBISTIN|EIEE8|HPEM-2|PEM-2|PEM2ERIS|Miner1|NAF-1|WFS2|ZCD2
Cytomap

Xq11.1

4q24

Type of geneprotein-codingprotein-coding
Descriptionrho guanine nucleotide exchange factor 9Cdc42 guanine nucleotide exchange factor (GEF) 9PEM-2 homologhPEM-2 collybistinrac/Cdc42 guanine nucleotide exchange factor 9CDGSH iron-sulfur domain-containing protein 2endoplasmic reticulum intermembrane small proteinmitoNEET-related 1 proteinnutrient-deprivation autophagy factor-1zinc finger, CDGSH-type domain 2
Modification date2018051920180527
UniProtAcc

O43307

Q8N5K1

Ensembl transtripts involved in fusion geneENST00000253401, ENST00000374878, 
ENST00000374870, ENST00000437457, 
ENST00000495564, ENST00000374872, 
ENST00000433323, 
ENST00000273986, 
ENST00000503643, 
Fusion gene scores* DoF score3 X 3 X 3=273 X 2 X 3=18
# samples 33
** MAII scorelog2(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)

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

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-A2-A0EM-01AARHGEF9chrX

62974195

-CISD2chr4

103806373

+
* 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
intron-3CDSENST00000253401ENST00000273986ARHGEF9chrX

62974195

-CISD2chr4

103806373

+
intron-3CDSENST00000253401ENST00000503643ARHGEF9chrX

62974195

-CISD2chr4

103806373

+
intron-3CDSENST00000374878ENST00000273986ARHGEF9chrX

62974195

-CISD2chr4

103806373

+
intron-3CDSENST00000374878ENST00000503643ARHGEF9chrX

62974195

-CISD2chr4

103806373

+
5UTR-3CDSENST00000374870ENST00000273986ARHGEF9chrX

62974195

-CISD2chr4

103806373

+
5UTR-3CDSENST00000374870ENST00000503643ARHGEF9chrX

62974195

-CISD2chr4

103806373

+
intron-3CDSENST00000437457ENST00000273986ARHGEF9chrX

62974195

-CISD2chr4

103806373

+
intron-3CDSENST00000437457ENST00000503643ARHGEF9chrX

62974195

-CISD2chr4

103806373

+
intron-3CDSENST00000495564ENST00000273986ARHGEF9chrX

62974195

-CISD2chr4

103806373

+
intron-3CDSENST00000495564ENST00000503643ARHGEF9chrX

62974195

-CISD2chr4

103806373

+
5UTR-3CDSENST00000374872ENST00000273986ARHGEF9chrX

62974195

-CISD2chr4

103806373

+
5UTR-3CDSENST00000374872ENST00000503643ARHGEF9chrX

62974195

-CISD2chr4

103806373

+
intron-3CDSENST00000433323ENST00000273986ARHGEF9chrX

62974195

-CISD2chr4

103806373

+
intron-3CDSENST00000433323ENST00000503643ARHGEF9chrX

62974195

-CISD2chr4

103806373

+

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FusionProtFeatures for ARHGEF9_CISD2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ARHGEF9

O43307

CISD2

Q8N5K1

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}.

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 ARHGEF9_CISD2


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 ARHGEF9_CISD2


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
ARHGEF9GPHN, SMURF1, PLEKHA5, KHDRBS1CISD2ELAVL1, 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


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 ARHGEF9_CISD2


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 ARHGEF9_CISD2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneARHGEF9C1845102Hyperekplexia and Epilepsy2CTD_human;ORPHANET;UNIPROT
HgeneARHGEF9C1136249Mental Retardation, X-Linked1CTD_human
TgeneCISD2C1858028WOLFRAM SYNDROME 21CTD_human