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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: 33928

FusionGeneSummary for SIRT5_PHACTR1

check button Fusion gene summary
Fusion gene informationFusion gene name: SIRT5_PHACTR1
Fusion gene ID: 33928
HgeneTgene
Gene symbol

SIRT5

PHACTR1

Gene ID

23408

221692

Gene namesirtuin 5phosphatase and actin regulator 1
SynonymsSIR2L5RPEL|RPEL1|dJ257A7.2
Cytomap

6p23

6p24.1

Type of geneprotein-codingprotein-coding
DescriptionNAD-dependent protein deacylase sirtuin-5, mitochondrialNAD-dependent deacetylase sirtuin-5NAD-dependent lysine demalonylase and desuccinylase sirtuin-5, mitochondrialsilent mating type information regulation 2, S.cerevisiae, homolog 5sir2-like 5sirtphosphatase and actin regulator 1RPEL repeat containing 1
Modification date2018051920180519
UniProtAcc

Q9NXA8

Q9C0D0

Ensembl transtripts involved in fusion geneENST00000359782, ENST00000379262, 
ENST00000397350, ENST00000606117, 
ENST00000379350, ENST00000379348, 
ENST00000332995, ENST00000482982, 
ENST00000379345, ENST00000457702, 
ENST00000379335, ENST00000379329, 
Fusion gene scores* DoF score1 X 1 X 1=19 X 8 X 8=576
# samples 110
** MAII scorelog2(1/1*10)=3.32192809488736log2(10/576*10)=-2.52606881166759
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SIRT5 [Title/Abstract] AND PHACTR1 [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
HgeneSIRT5

GO:0006476

protein deacetylation

18680753

HgeneSIRT5

GO:0006476

protein deacetylation

22076378

HgeneSIRT5

GO:0036046

protein demalonylation

24703693

HgeneSIRT5

GO:0036047

peptidyl-lysine demalonylation

21908771|22076378

HgeneSIRT5

GO:0036048

protein desuccinylation

24140062|24703693|29180469

HgeneSIRT5

GO:0036049

peptidyl-lysine desuccinylation

21908771|22076378

HgeneSIRT5

GO:0061698

protein deglutarylation

24703693

HgeneSIRT5

GO:2000378

negative regulation of reactive oxygen species metabolic process

24140062


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
TCGARVPRADTCGA-YJ-A8SW-01ASIRT5chr6

13601181

+PHACTR1chr6

13273092

+
* 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
Frame-shiftENST00000359782ENST00000379350SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000359782ENST00000379348SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000359782ENST00000332995SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000359782ENST00000482982SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000359782ENST00000379345SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000359782ENST00000457702SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000359782ENST00000379335SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000359782ENST00000379329SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
Frame-shiftENST00000379262ENST00000379350SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000379262ENST00000379348SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000379262ENST00000332995SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000379262ENST00000482982SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000379262ENST00000379345SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000379262ENST00000457702SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000379262ENST00000379335SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000379262ENST00000379329SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
Frame-shiftENST00000397350ENST00000379350SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000397350ENST00000379348SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000397350ENST00000332995SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000397350ENST00000482982SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000397350ENST00000379345SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000397350ENST00000457702SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000397350ENST00000379335SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000397350ENST00000379329SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
Frame-shiftENST00000606117ENST00000379350SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000606117ENST00000379348SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000606117ENST00000332995SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000606117ENST00000482982SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000606117ENST00000379345SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000606117ENST00000457702SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000606117ENST00000379335SIRT5chr6

13601181

+PHACTR1chr6

13273092

+
5CDS-intronENST00000606117ENST00000379329SIRT5chr6

13601181

+PHACTR1chr6

13273092

+

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FusionProtFeatures for SIRT5_PHACTR1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SIRT5

Q9NXA8

PHACTR1

Q9C0D0

NAD-dependent lysine demalonylase, desuccinylase anddeglutarylase that specifically removes malonyl, succinyl andglutaryl groups on target proteins (PubMed:21908771,PubMed:22076378, PubMed:24703693, PubMed:29180469). Activates CPS1and contributes to the regulation of blood ammonia levels duringprolonged fasting: acts by mediating desuccinylation anddeglutarylation of CPS1, thereby increasing CPS1 activity inresponse to elevated NAD levels during fasting (PubMed:22076378,PubMed:24703693). Activates SOD1 by mediating its desuccinylation,leading to reduced reactive oxygen species (PubMed:24140062).Activates SHMT2 by mediating its desuccinylation(PubMed:29180469). Modulates ketogenesis through thedesuccinylation and activation of HMGCS2 (By similarity). Has weakNAD-dependent protein deacetylase activity; however this activitymay not be physiologically relevant in vivo. Can deacetylatecytochrome c (CYCS) and a number of other proteins in vitro suchas UOX. {ECO:0000250|UniProtKB:Q8K2C6,ECO:0000269|PubMed:18680753, ECO:0000269|PubMed:21908771,ECO:0000269|PubMed:22076378, ECO:0000269|PubMed:24140062,ECO:0000269|PubMed:24703693, ECO:0000269|PubMed:29180469}. Binds actin monomers (G actin) and plays a role in thereorganization of the actin cytoskeleton and in formation of actinstress fibers. Plays a role in cell motility. Plays a role in theformation of tubules by endothelial cells. Regulates PPP1CAactivity. Required for normal cell survival.{ECO:0000269|PubMed:21798305, ECO:0000269|PubMed:21939755}.

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 SIRT5_PHACTR1


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 SIRT5_PHACTR1


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
SIRT5RELA, SIRT3, BRD4, APP, HECW2, HOXB5, CWC15, HNRNPD, SORT1, SGTB, BAG6, GLS, WDFY1, HBZ, RABL3, THEM4, CPLX3, GYG2, YBEY, GBP6PHACTR1ACTA1, PPP1CA, TRIM25


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 SIRT5_PHACTR1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneSIRT5Q9NXA8DB02701NicotinamideNAD-dependent protein deacylase sirtuin-5, mitochondrial {ECO:0000255|HAMAP-Rule:MF_03160}small moleculeapproved|investigational
HgeneSIRT5Q9NXA8DB04786SuraminNAD-dependent protein deacylase sirtuin-5, mitochondrial {ECO:0000255|HAMAP-Rule:MF_03160}small moleculeapproved|investigational

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RelatedDiseases for SIRT5_PHACTR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSIRT5C0033975Psychotic Disorders1PSYGENET
HgeneSIRT5C0036337Schizoaffective Disorder1PSYGENET
HgeneSIRT5C0036341Schizophrenia1PSYGENET
TgenePHACTR1C1956346Coronary Artery Disease3CTD_human
TgenePHACTR1C0027051Myocardial Infarction2CTD_human
TgenePHACTR1C0338480Common Migraine1CTD_human