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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: 2407

FusionGeneSummary for ARHGAP23_STARD3

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGAP23_STARD3
Fusion gene ID: 2407
HgeneTgene
Gene symbol

ARHGAP23

STARD3

Gene ID

57636

10948

Gene nameRho GTPase activating protein 23StAR related lipid transfer domain containing 3
Synonyms-CAB1|MLN64|es64
Cytomap

17q12

17q12

Type of geneprotein-codingprotein-coding
Descriptionrho GTPase-activating protein 23rho-type GTPase-activating protein 23stAR-related lipid transfer protein 3MLN 64START domain-containing protein 3StAR-related lipid transfer (START) domain containing 3metastatic lymph node gene 64 proteinmetastatic lymph node protein 64steroidogenic acute regulatory protein related
Modification date2018051920180522
UniProtAcc

Q9P227

Q14849

Ensembl transtripts involved in fusion geneENST00000431231, ENST00000437668, 
ENST00000582409, ENST00000443378, 
ENST00000336308, ENST00000578232, 
ENST00000544210, ENST00000394250, 
ENST00000580611, 
Fusion gene scores* DoF score12 X 10 X 8=96010 X 3 X 7=210
# samples 1110
** MAII scorelog2(11/960*10)=-3.12553088208386
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/210*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARHGAP23 [Title/Abstract] AND STARD3 [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
TgeneSTARD3

GO:0030301

cholesterol transport

28377464

TgeneSTARD3

GO:0099044

vesicle tethering to endoplasmic reticulum

24105263|28377464


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
TCGARVREADTCGA-EI-6509-01AARHGAP23chr17

36614507

+STARD3chr17

37809734

+
* 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-5UTRENST00000431231ENST00000336308ARHGAP23chr17

36614507

+STARD3chr17

37809734

+
5CDS-intronENST00000431231ENST00000578232ARHGAP23chr17

36614507

+STARD3chr17

37809734

+
5CDS-5UTRENST00000431231ENST00000544210ARHGAP23chr17

36614507

+STARD3chr17

37809734

+
5CDS-5UTRENST00000431231ENST00000394250ARHGAP23chr17

36614507

+STARD3chr17

37809734

+
5CDS-5UTRENST00000431231ENST00000580611ARHGAP23chr17

36614507

+STARD3chr17

37809734

+
5CDS-5UTRENST00000437668ENST00000336308ARHGAP23chr17

36614507

+STARD3chr17

37809734

+
5CDS-intronENST00000437668ENST00000578232ARHGAP23chr17

36614507

+STARD3chr17

37809734

+
5CDS-5UTRENST00000437668ENST00000544210ARHGAP23chr17

36614507

+STARD3chr17

37809734

+
5CDS-5UTRENST00000437668ENST00000394250ARHGAP23chr17

36614507

+STARD3chr17

37809734

+
5CDS-5UTRENST00000437668ENST00000580611ARHGAP23chr17

36614507

+STARD3chr17

37809734

+
intron-5UTRENST00000582409ENST00000336308ARHGAP23chr17

36614507

+STARD3chr17

37809734

+
intron-intronENST00000582409ENST00000578232ARHGAP23chr17

36614507

+STARD3chr17

37809734

+
intron-5UTRENST00000582409ENST00000544210ARHGAP23chr17

36614507

+STARD3chr17

37809734

+
intron-5UTRENST00000582409ENST00000394250ARHGAP23chr17

36614507

+STARD3chr17

37809734

+
intron-5UTRENST00000582409ENST00000580611ARHGAP23chr17

36614507

+STARD3chr17

37809734

+
5UTR-5UTRENST00000443378ENST00000336308ARHGAP23chr17

36614507

+STARD3chr17

37809734

+
5UTR-intronENST00000443378ENST00000578232ARHGAP23chr17

36614507

+STARD3chr17

37809734

+
5UTR-5UTRENST00000443378ENST00000544210ARHGAP23chr17

36614507

+STARD3chr17

37809734

+
5UTR-5UTRENST00000443378ENST00000394250ARHGAP23chr17

36614507

+STARD3chr17

37809734

+
5UTR-5UTRENST00000443378ENST00000580611ARHGAP23chr17

36614507

+STARD3chr17

37809734

+

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FusionProtFeatures for ARHGAP23_STARD3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ARHGAP23

Q9P227

STARD3

Q14849

GTPase activator for the Rho-type GTPases by convertingthem to an inactive GDP-bound state. {ECO:0000250}. Sterol-binding protein that mediates cholesteroltransport from the endoplasmic reticulum to endosomes(PubMed:11053434, PubMed:15930133, PubMed:22514632,PubMed:28377464). Creates contact site between the endoplasmicreticulum and late endosomes: localizes to late endosome membranesand contacts the endoplasmic reticulum via interaction with VAPAand VAPB (PubMed:24105263, PubMed:28377464). Acts as a lipidtransfer protein that redirects sterol to the endosome at theexpense of the cell membrane and favors membrane formation insideendosomes (PubMed:28377464). May also mediate cholesteroltransport between other membranes, such as mitochondria membraneor cell membrane (PubMed:12070139, PubMed:19965586). However, suchresults need additional experimental evidences; probably mainlymediates cholesterol transport from the endoplasmic reticulum toendosomes (PubMed:28377464). Does not activate transcriptionalcholesterol sensing (PubMed:28377464). Able to bind other lipids,such as lutein, a xanthophyll carotenoids that form the macularpigment of the retina (PubMed:21322544).{ECO:0000269|PubMed:11053434, ECO:0000269|PubMed:12070139,ECO:0000269|PubMed:15930133, ECO:0000269|PubMed:19965586,ECO:0000269|PubMed:21322544, ECO:0000269|PubMed:22514632,ECO:0000269|PubMed:24105263, ECO:0000269|PubMed:28377464}.

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 ARHGAP23_STARD3


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 ARHGAP23_STARD3


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
ARHGAP23RPAP1, HNRNPA1, MEPCE, YWHAQ, SAPCD1, CDH1STARD3GOPC, SPACA1, SDF4, ERGIC3, HEPACAM2, VAPB, CREB3, C19orf26, MME, P2RX2, SLC15A1, CHRM3, MANSC1, PMEL, CLEC2D, TSPYL6, TRIM25, LMNA


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 ARHGAP23_STARD3


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 ARHGAP23_STARD3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneARHGAP23C0032460Polycystic Ovary Syndrome1CTD_human
TgeneSTARD3C0033578Prostatic Neoplasms2CTD_human
TgeneSTARD3C3496069cocaine use1PSYGENET