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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: 15952

FusionGeneSummary for HDAC6_STIM2

check button Fusion gene summary
Fusion gene informationFusion gene name: HDAC6_STIM2
Fusion gene ID: 15952
HgeneTgene
Gene symbol

HDAC6

STIM2

Gene ID

10013

57620

Gene namehistone deacetylase 6stromal interaction molecule 2
SynonymsCPBHM|HD6|JM21|PPP1R90-
Cytomap

Xp11.23

4p15.2

Type of geneprotein-codingprotein-coding
Descriptionhistone deacetylase 6protein phosphatase 1, regulatory subunit 90stromal interaction molecule 2
Modification date2018052720180523
UniProtAcc

Q9UBN7

Q9P246

Ensembl transtripts involved in fusion geneENST00000469223, ENST00000444343, 
ENST00000334136, ENST00000376619, 
ENST00000413163, 		ENST00000382009, 
ENST00000237364, ENST00000467087, 
ENST00000412829, ENST00000467011, 
ENST00000465503, ENST00000478425, 
Fusion gene scores* DoF score1 X 1 X 1=11 X 1 X 1=1
# samples 11
** MAII scorelog2(1/1*10)=3.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: HDAC6 [Title/Abstract] AND STIM2 [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
HgeneHDAC6

GO:0016575

histone deacetylation

10220385

HgeneHDAC6

GO:0090042

tubulin deacetylation

19228685

HgeneHDAC6

GO:1901300

positive regulation of hydrogen peroxide-mediated programmed cell death

18606987

TgeneSTIM2

GO:0032237

activation of store-operated calcium channel activity

17905723

TgeneSTIM2

GO:0051928

positive regulation of calcium ion transport

17905723


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
ChiTaRS3.1AI366036HDAC6chrX

48673799

+STIM2chr4

27019424

+
* 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-3CDSENST00000469223ENST00000382009HDAC6chrX

48673799

+STIM2chr4

27019424

+
intron-3CDSENST00000469223ENST00000237364HDAC6chrX

48673799

+STIM2chr4

27019424

+
intron-3CDSENST00000469223ENST00000467087HDAC6chrX

48673799

+STIM2chr4

27019424

+
intron-3CDSENST00000469223ENST00000412829HDAC6chrX

48673799

+STIM2chr4

27019424

+
intron-3CDSENST00000469223ENST00000467011HDAC6chrX

48673799

+STIM2chr4

27019424

+
intron-3CDSENST00000469223ENST00000465503HDAC6chrX

48673799

+STIM2chr4

27019424

+
intron-intronENST00000469223ENST00000478425HDAC6chrX

48673799

+STIM2chr4

27019424

+
Frame-shiftENST00000444343ENST00000382009HDAC6chrX

48673799

+STIM2chr4

27019424

+
Frame-shiftENST00000444343ENST00000237364HDAC6chrX

48673799

+STIM2chr4

27019424

+
Frame-shiftENST00000444343ENST00000467087HDAC6chrX

48673799

+STIM2chr4

27019424

+
Frame-shiftENST00000444343ENST00000412829HDAC6chrX

48673799

+STIM2chr4

27019424

+
Frame-shiftENST00000444343ENST00000467011HDAC6chrX

48673799

+STIM2chr4

27019424

+
Frame-shiftENST00000444343ENST00000465503HDAC6chrX

48673799

+STIM2chr4

27019424

+
5CDS-intronENST00000444343ENST00000478425HDAC6chrX

48673799

+STIM2chr4

27019424

+
Frame-shiftENST00000334136ENST00000382009HDAC6chrX

48673799

+STIM2chr4

27019424

+
Frame-shiftENST00000334136ENST00000237364HDAC6chrX

48673799

+STIM2chr4

27019424

+
Frame-shiftENST00000334136ENST00000467087HDAC6chrX

48673799

+STIM2chr4

27019424

+
Frame-shiftENST00000334136ENST00000412829HDAC6chrX

48673799

+STIM2chr4

27019424

+
Frame-shiftENST00000334136ENST00000467011HDAC6chrX

48673799

+STIM2chr4

27019424

+
Frame-shiftENST00000334136ENST00000465503HDAC6chrX

48673799

+STIM2chr4

27019424

+
5CDS-intronENST00000334136ENST00000478425HDAC6chrX

48673799

+STIM2chr4

27019424

+
Frame-shiftENST00000376619ENST00000382009HDAC6chrX

48673799

+STIM2chr4

27019424

+
Frame-shiftENST00000376619ENST00000237364HDAC6chrX

48673799

+STIM2chr4

27019424

+
Frame-shiftENST00000376619ENST00000467087HDAC6chrX

48673799

+STIM2chr4

27019424

+
Frame-shiftENST00000376619ENST00000412829HDAC6chrX

48673799

+STIM2chr4

27019424

+
Frame-shiftENST00000376619ENST00000467011HDAC6chrX

48673799

+STIM2chr4

27019424

+
Frame-shiftENST00000376619ENST00000465503HDAC6chrX

48673799

+STIM2chr4

27019424

+
5CDS-intronENST00000376619ENST00000478425HDAC6chrX

48673799

+STIM2chr4

27019424

+
intron-3CDSENST00000413163ENST00000382009HDAC6chrX

48673799

+STIM2chr4

27019424

+
intron-3CDSENST00000413163ENST00000237364HDAC6chrX

48673799

+STIM2chr4

27019424

+
intron-3CDSENST00000413163ENST00000467087HDAC6chrX

48673799

+STIM2chr4

27019424

+
intron-3CDSENST00000413163ENST00000412829HDAC6chrX

48673799

+STIM2chr4

27019424

+
intron-3CDSENST00000413163ENST00000467011HDAC6chrX

48673799

+STIM2chr4

27019424

+
intron-3CDSENST00000413163ENST00000465503HDAC6chrX

48673799

+STIM2chr4

27019424

+
intron-intronENST00000413163ENST00000478425HDAC6chrX

48673799

+STIM2chr4

27019424

+

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FusionProtFeatures for HDAC6_STIM2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HDAC6

Q9UBN7

STIM2

Q9P246

Responsible for the deacetylation of lysine residues onthe N-terminal part of the core histones (H2A, H2B, H3 and H4).Histone deacetylation gives a tag for epigenetic repression andplays an important role in transcriptional regulation, cell cycleprogression and developmental events. Histone deacetylases act viathe formation of large multiprotein complexes (By similarity).Plays a central role in microtubule-dependent cell motility viadeacetylation of tubulin. Involved in the MTA1-mediated epigeneticregulation of ESR1 expression in breast cancer. {ECO:0000250,ECO:0000269|PubMed:12024216, ECO:0000269|PubMed:17846173,ECO:0000269|PubMed:24413532}. In addition to its protein deacetylase activity, plays akey role in the degradation of misfolded proteins: when misfoldedproteins are too abundant to be degraded by the chaperonerefolding system and the ubiquitin-proteasome, mediates thetransport of misfolded proteins to a cytoplasmic juxtanuclearstructure called aggresome. Probably acts as an adapter thatrecognizes polyubiquitinated misfolded proteins and target them tothe aggresome, facilitating their clearance by autophagy. Plays a role in mediating store-operated Ca(2+) entry(SOCE), a Ca(2+) influx following depletion of intracellularCa(2+) stores. Functions as a highly sensitive Ca(2+) sensor inthe endoplasmic reticulum which activates both store-operated andstore-independent Ca(2+)-influx. Regulates basal cytosolic andendoplasmic reticulum Ca(2+) concentrations. Upon mild variationsof the endoplasmic reticulum Ca(2+) concentration, translocatesfrom the endoplasmic reticulum to the plasma membrane where itprobably activates the Ca(2+) release-activated Ca(2+) (CRAC)channels ORAI1, ORAI2 and ORAI3. May inhibit STIM1-mediated Ca(2+)influx. {ECO:0000269|PubMed:16005298, ECO:0000269|PubMed:16860747,ECO:0000269|PubMed:17905723, ECO:0000269|PubMed:18160041,ECO:0000269|PubMed:21217057, ECO:0000269|PubMed:22464749,ECO:0000269|PubMed:23359669}.

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 HDAC6_STIM2


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 HDAC6_STIM2


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


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 HDAC6_STIM2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneHDAC6Q9UBN7DB02546VorinostatHistone deacetylase 6small moleculeapproved|investigational
HgeneHDAC6Q9UBN7DB06176RomidepsinHistone deacetylase 6small moleculeapproved|investigational

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RelatedDiseases for HDAC6_STIM2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHDAC6C0011570Mental Depression2PSYGENET
HgeneHDAC6C0011581Depressive disorder1PSYGENET
HgeneHDAC6C0025202melanoma1CTD_human
HgeneHDAC6C0033578Prostatic Neoplasms1CTD_human
HgeneHDAC6C0919267ovarian neoplasm1CTD_human
TgeneSTIM2C0043094Weight Gain1CTD_human