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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: 36356

FusionGeneSummary for STARD3_PPP1R1B

check button Fusion gene summary
Fusion gene informationFusion gene name: STARD3_PPP1R1B
Fusion gene ID: 36356
HgeneTgene
Gene symbol

STARD3

PPP1R1B

Gene ID

10948

84152

Gene nameStAR related lipid transfer domain containing 3protein phosphatase 1 regulatory inhibitor subunit 1B
SynonymsCAB1|MLN64|es64DARPP-32|DARPP32
Cytomap

17q12

17q12

Type of geneprotein-codingprotein-coding
DescriptionstAR-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 relatedprotein phosphatase 1 regulatory subunit 1Bdopamine and cAMP-regulated neuronal phosphoprotein 32
Modification date2018052220180527
UniProtAcc

Q14849

Q9UD71

Ensembl transtripts involved in fusion geneENST00000336308, ENST00000578232, 
ENST00000544210, ENST00000394250, 
ENST00000580611, 
ENST00000580825, 
ENST00000254079, ENST00000579000, 
ENST00000394265, ENST00000394267, 
Fusion gene scores* DoF score21 X 6 X 7=88210 X 5 X 11=550
# samples 2219
** MAII scorelog2(22/882*10)=-2.00327513203286
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/550*10)=-1.53343220008107
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: STARD3 [Title/Abstract] AND PPP1R1B [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
HgeneSTARD3

GO:0030301

cholesterol transport

28377464

HgeneSTARD3

GO:0099044

vesicle tethering to endoplasmic reticulum

24105263|28377464

TgenePPP1R1B

GO:0032515

negative regulation of phosphoprotein phosphatase activity

10807923


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
TCGARVBLCATCGA-XF-A9SW-01ASTARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
* 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
5UTR-3CDSENST00000336308ENST00000580825STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
5UTR-3CDSENST00000336308ENST00000254079STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
5UTR-3CDSENST00000336308ENST00000579000STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
5UTR-5UTRENST00000336308ENST00000394265STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
5UTR-5UTRENST00000336308ENST00000394267STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
3UTR-3CDSENST00000578232ENST00000580825STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
3UTR-3CDSENST00000578232ENST00000254079STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
3UTR-3CDSENST00000578232ENST00000579000STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
3UTR-5UTRENST00000578232ENST00000394265STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
3UTR-5UTRENST00000578232ENST00000394267STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
5UTR-3CDSENST00000544210ENST00000580825STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
5UTR-3CDSENST00000544210ENST00000254079STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
5UTR-3CDSENST00000544210ENST00000579000STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
5UTR-5UTRENST00000544210ENST00000394265STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
5UTR-5UTRENST00000544210ENST00000394267STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
5UTR-3CDSENST00000394250ENST00000580825STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
5UTR-3CDSENST00000394250ENST00000254079STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
5UTR-3CDSENST00000394250ENST00000579000STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
5UTR-5UTRENST00000394250ENST00000394265STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
5UTR-5UTRENST00000394250ENST00000394267STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
5UTR-3CDSENST00000580611ENST00000580825STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
5UTR-3CDSENST00000580611ENST00000254079STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
5UTR-3CDSENST00000580611ENST00000579000STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
5UTR-5UTRENST00000580611ENST00000394265STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+
5UTR-5UTRENST00000580611ENST00000394267STARD3chr17

37793484

+PPP1R1Bchr17

37785423

+

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FusionProtFeatures for STARD3_PPP1R1B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
STARD3

Q14849

PPP1R1B

Q9UD71

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}. Inhibitor of protein-phosphatase 1.

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 STARD3_PPP1R1B


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 STARD3_PPP1R1B


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
STARD3GOPC, SPACA1, SDF4, ERGIC3, HEPACAM2, VAPB, CREB3, C19orf26, MME, P2RX2, SLC15A1, CHRM3, MANSC1, PMEL, CLEC2D, TSPYL6, TRIM25, LMNAPPP1R1BDLGAP4, CSNK2A1, PPP1CC, PPP1CA, TFCP2, KLHL6, ACTBL2


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 STARD3_PPP1R1B


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 STARD3_PPP1R1B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSTARD3C0033578Prostatic Neoplasms2CTD_human
HgeneSTARD3C3496069cocaine use1PSYGENET
TgenePPP1R1BC0036341Schizophrenia5PSYGENET
TgenePPP1R1BC0005586Bipolar Disorder4PSYGENET
TgenePPP1R1BC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgenePPP1R1BC0007370Catalepsy1CTD_human
TgenePPP1R1BC0011570Mental Depression1PSYGENET
TgenePPP1R1BC0011581Depressive disorder1PSYGENET
TgenePPP1R1BC0013384Dyskinetic syndrome1CTD_human