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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: 4485

FusionGeneSummary for BSDC1_HDAC1

check button Fusion gene summary
Fusion gene informationFusion gene name: BSDC1_HDAC1
Fusion gene ID: 4485
HgeneTgene
Gene symbol

BSDC1

HDAC1

Gene ID

55108

3065

Gene nameBSD domain containing 1histone deacetylase 1
Synonyms-GON-10|HD1|RPD3|RPD3L1
Cytomap

1p35.1

1p35.2-p35.1

Type of geneprotein-codingprotein-coding
DescriptionBSD domain-containing protein 1histone deacetylase 1reduced potassium dependency, yeast homolog-like 1
Modification date2018051920180523
UniProtAcc

Q9NW68

Q13547

Ensembl transtripts involved in fusion geneENST00000455895, ENST00000413080, 
ENST00000341071, ENST00000526031, 
ENST00000419121, ENST00000446293, 
ENST00000463967, ENST00000449308, 
ENST00000373548, ENST00000373541, 
ENST00000490081, 
Fusion gene scores* DoF score5 X 5 X 4=1007 X 6 X 5=210
# samples 512
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/210*10)=-0.807354922057604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BSDC1 [Title/Abstract] AND HDAC1 [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
TgeneHDAC1

GO:0000122

negative regulation of transcription by RNA polymerase II

18854353

TgeneHDAC1

GO:0006476

protein deacetylation

17172643|23629966

TgeneHDAC1

GO:0045893

positive regulation of transcription, DNA-templated

16762839

TgeneHDAC1

GO:0045944

positive regulation of transcription by RNA polymerase II

16762839

TgeneHDAC1

GO:0060766

negative regulation of androgen receptor signaling pathway

15919722

TgeneHDAC1

GO:0070932

histone H3 deacetylation

12590135

TgeneHDAC1

GO:0070933

histone H4 deacetylation

12590135


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
TCGARVLUSCTCGA-60-2721-01ABSDC1chr1

32834048

-HDAC1chr1

32797075

+
* 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-shiftENST00000455895ENST00000373548BSDC1chr1

32834048

-HDAC1chr1

32797075

+
Frame-shiftENST00000455895ENST00000373541BSDC1chr1

32834048

-HDAC1chr1

32797075

+
5CDS-3UTRENST00000455895ENST00000490081BSDC1chr1

32834048

-HDAC1chr1

32797075

+
Frame-shiftENST00000413080ENST00000373548BSDC1chr1

32834048

-HDAC1chr1

32797075

+
Frame-shiftENST00000413080ENST00000373541BSDC1chr1

32834048

-HDAC1chr1

32797075

+
5CDS-3UTRENST00000413080ENST00000490081BSDC1chr1

32834048

-HDAC1chr1

32797075

+
intron-3CDSENST00000341071ENST00000373548BSDC1chr1

32834048

-HDAC1chr1

32797075

+
intron-3CDSENST00000341071ENST00000373541BSDC1chr1

32834048

-HDAC1chr1

32797075

+
intron-3UTRENST00000341071ENST00000490081BSDC1chr1

32834048

-HDAC1chr1

32797075

+
Frame-shiftENST00000526031ENST00000373548BSDC1chr1

32834048

-HDAC1chr1

32797075

+
Frame-shiftENST00000526031ENST00000373541BSDC1chr1

32834048

-HDAC1chr1

32797075

+
5CDS-3UTRENST00000526031ENST00000490081BSDC1chr1

32834048

-HDAC1chr1

32797075

+
Frame-shiftENST00000419121ENST00000373548BSDC1chr1

32834048

-HDAC1chr1

32797075

+
Frame-shiftENST00000419121ENST00000373541BSDC1chr1

32834048

-HDAC1chr1

32797075

+
5CDS-3UTRENST00000419121ENST00000490081BSDC1chr1

32834048

-HDAC1chr1

32797075

+
Frame-shiftENST00000446293ENST00000373548BSDC1chr1

32834048

-HDAC1chr1

32797075

+
Frame-shiftENST00000446293ENST00000373541BSDC1chr1

32834048

-HDAC1chr1

32797075

+
5CDS-3UTRENST00000446293ENST00000490081BSDC1chr1

32834048

-HDAC1chr1

32797075

+
intron-3CDSENST00000463967ENST00000373548BSDC1chr1

32834048

-HDAC1chr1

32797075

+
intron-3CDSENST00000463967ENST00000373541BSDC1chr1

32834048

-HDAC1chr1

32797075

+
intron-3UTRENST00000463967ENST00000490081BSDC1chr1

32834048

-HDAC1chr1

32797075

+
intron-3CDSENST00000449308ENST00000373548BSDC1chr1

32834048

-HDAC1chr1

32797075

+
intron-3CDSENST00000449308ENST00000373541BSDC1chr1

32834048

-HDAC1chr1

32797075

+
intron-3UTRENST00000449308ENST00000490081BSDC1chr1

32834048

-HDAC1chr1

32797075

+

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FusionProtFeatures for BSDC1_HDAC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BSDC1

Q9NW68

HDAC1

Q13547

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. Deacetylates SPproteins, SP1 and SP3, and regulates their function. Component ofthe BRG1-RB1-HDAC1 complex, which negatively regulates the CREST-mediated transcription in resting neurons. Upon calciumstimulation, HDAC1 is released from the complex and CREBBP isrecruited, which facilitates transcriptional activation.Deacetylates TSHZ3 and regulates its transcriptional repressoractivity. Deacetylates 'Lys-310' in RELA and thereby inhibits thetranscriptional activity of NF-kappa-B. Deacetylates NR1D2 andabrogates the effect of KAT5-mediated relieving of NR1D2transcription repression activity. Component of aRCOR/GFI/KDM1A/HDAC complex that suppresses, via histonedeacetylase (HDAC) recruitment, a number of genes implicated inmultilineage blood cell development. Involved in CIART-mediatedtranscriptional repression of the circadian transcriptionalactivator: CLOCK-ARNTL/BMAL1 heterodimer. Required for thetranscriptional repression of circadian target genes, such asPER1, mediated by the large PER complex or CRY1 through histonedeacetylation. {ECO:0000269|PubMed:12837748,ECO:0000269|PubMed:16478997, ECO:0000269|PubMed:17000776,ECO:0000269|PubMed:17704056, ECO:0000269|PubMed:17996965,ECO:0000269|PubMed:19081374, ECO:0000269|PubMed:19343227}.

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 BSDC1_HDAC1


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 BSDC1_HDAC1


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
BSDC1PHC2, KLC1, TMEM216, SERPINB13HDAC1ZBTB16, MBD3L1, BUB1, BUB1B, BUB3, CDC20, CDH1, MAD1L1, KDM1A, HMG20B, RCOR1, PHF21A, HDAC2, RB1, CTBP1, TGIF1, DDX5, DDX17, DNMT3B, GATA1, PHB, CDYL, SIN3A, RBBP4, MTA1, MTA2, HDAC1, CHD4, RBBP7, CHD1, SP1, KMT2A, TXNIP, SAP30, SAP130, ARID4B, SUDS3, HCFC1, PTMA, EFCAB6, AR, YY1, GTF2I, MBD3, MBD2, TAB2, GATAD2B, HDAC9, HSPD1, HSPA4, TOP2B, TOP2A, RELA, NCOR2, ATR, PML, RFC1, BRCA1, MYOD1, NFKB1, MDM2, TP53, SMARCB1, SMARCA2, PCNA, DNMT1, RBL1, FKBP3, NFIX, PPARD, RBL2, E2F4, BCOR, MIER1, TGIF2, DAXX, CBFA2T3, SIN3B, HBP1, E2F1, IKZF1, CHD3, MECOM, KLF11, SMAD2, DNMT3L, BCL6, CABIN1, VHL, HIF1AN, HIF1A, DNMT3A, SATB1, HUS1, RAD9A, PHF12, ING1, RUNX1T1, SP3, SUV39H1, EED, EZH2, TPD52L1, TAL1, NR2F2, SPEN, TLE4, HR, HEY2, IFRD1, MXD1, DZIP3, UHRF1, PADI4, MECP2, SPI1, MBD4, WHSC1, ING2, ZMYND11, H2AFY, KDM5C, ETHE1, ZMYM2, REST, PRDM1, FRA10F, CDKN1A, GLI1, GLI2, KCTD11, APBB1, BNIP3, SFPQ, ZBTB7A, MKX, CHFR, TLE1, CDK5R1, SMARCA4, PPP1CC, DACH1, NUDT21, PAPOLA, HSF1, BANF1, ZFP36, MBTPS1, CEBPB, APPL1, BACH1, ADD1, POU2F1, CREM, JUN, SMAD7, HELLS, DACT1, NKX2-5, BRMS1, SERPINB5, HOXA11, FOSL1, SAP30L, EP300, PAX3, CREBBP, NR3C1, GATAD2A, RUNX2, RUVBL2, NKX3-1, RUNX1, NUP98, NUP54, GRIP1, PLAGL1, NFE4, MAPK8, MAPK9, MAPK10, INSM1, CEBPD, REPIN1, GCM1, RERE, RFX1, TRIM27, NFYC, SNAI1, SNAI2, SNAI3, NKX3-2, MEN1, ESR1, BCL3, LMO4, SYK, GFI1, CRYAB, ESCO2, CTNNB1, PARP1, E4F1, MTA3, CIITA, HES1, BCL6B, STAT5A, CREB1, LCOR, PITX2, TAF6, GLI3, SMARCE1, SMARCC2, HSD11B2, BCL11B, BCL11A, BAZ2A, TFCP2, HIST1H3A, MYT1, KDM4A, STAT3, NR0B2, CCND1, CEBPA, MBD3L2, NKX2-2, KLF5, CSNK2A1, PFDN5, HNRNPD, NR2E1, KLF4, KLF1, NFKBIA, SATB2, MNT, MYC, TBX3, MAFK, PRKACA, TBP, SMAD3, ARID4A, ELK1, HDAC7, TP73, UHRF2, ACTA1, PBX1, LEF1, SENP1, ATM, ENO1, PHB2, TAF1B, ZEB2, SKIL, ZFPM2, UBASH3B, PIAS4, NR1D2, BHLHE41, NONO, SOX6, ZNF395, SMAD1, SMAD5, SMAD4, SMEK1, ZNF148, NPM1, PRDM5, EMD, CCDC6, OVOL1, SAMSN1, GABPA, MORF4L1, MORF4L2, DMAP1, ATF3, PPARG, MEF2D, MEF2A, SMC4, CCT8, TCP1, VIM, TRIM21, ESCO1, PARK7, TSC22D3, CDK2AP1, TADA2A, BANP, NFYB, IRF5, DEC1, HIST2H2AA3, PPP6R3, PPP2R1B, PPP2R1A, HDAC5, KAT5, BRINP1, HIST1H4A, HIST3H3, THAP11, PRKG1, NFYA, DDIT3, SMARCAD1, SOX2, KDM5B, HDGF, FOXP3, WISP2, PRDM4, GPS2, UBTF, PCGF6, RNF2, HIST3H2BB, CDKN2A, NR2C1, NR2C2, POLD3, TRIM28, KDM4C, NFATC1, TFAP4, BAHD1, VPRBP, AIRE, BRMS1L, MAGEA1, JDP2, ZNF76, SMARCC1, SMARCA5, SMARCD1, NOTCH1, FN1, SS18, SSX2, DNTTIP1, GSE1, HMG20A, RCOR3, ELMSAN1, TRERF1, E2F3, TMEM54, EID3, STAT1, BHLHE40, ADNP, ADH5, ARID5B, BEND3, CSNK2B, TBL1XR1, GATAD1, EHMT2, BBX, KPNA1, KPNA3, KPNA4, KPNA6, IDH2, KDM5A, ACADM, MIER2, MIER3, PFDN2, VBP1, PFDN6, C11orf30, FAM60A, ZMYND8, PWWP2A, RREB1, RCOR2, ESD, TNRC18, TRMT61A, C16orf87, WDR5, ZBTB2, ZMYM3, ZNF217, ZNF512B, ZNF516, ZNF521, ZNF592, ZNF609, ZNF687, ZNF827, IKZF2, PRRG4, HEXIM1, UBE2I, ZGPAT, BRCC3, SF3A1, HNRNPR, LARP7, PAAF1, RABEP2, NACC2, RARA, FEZF2, HAUS2, PRDM6, NFE2L2, DDB1, CUL4B, APEX1, PHF6, LOXL2, SUZ12, SUMO2, SIRT6, MAP1LC3B, HIST1H2AA, HIST1H2BA, ZNF219, PHF20L1, C22orf31, DDB2, PHF1, CHD5, EP400, MAPK11, MAPK14, POLR3A, PIN1, TLE3, PPP1CA, RAP1A, NRIP1, RUNX3, HIST1H3E, ALDH1B1, CCT6A, E2F6, ERCC6, H3F3A, IPO5, AFF1, PEX10, PIK3CA, RING1, SRPR, TCF20, CCT3, TRPS1, CDC42BPA, NOLC1, PHF14, DNAJC6, PARP2, CCT7, CCT4, CCT2, ZNF273, RALBP1, TRAK1, CCT5, EXOSC7, PHLPP1, MGA, COG4, TIMM13, DESI1, SNX9, TRPM7, BCAS3, ZFP64, BAHCC1, GPAM, EHMT1, CCNL2, ASCC2, HSDL2, ANKRD13B, C2orf69, FOXK1, PGBD3, STRAP, KMT2E, NF2, USP37, FOXK2, MAGEB2, CCNB1, NFATC2, RNF138, USP19, RORC, CDK4, EGFR, L3MBTL2, CASP8AP2, SFMBT1, CCDC71, PHF21B, TFDP1, PWWP2B, ZNF608, CCT6B, ZNF800, CYBRD1, ZNF639, RYBP, C9orf41, WIZ, RFX3, XYLT2, RTCB, PTOV1, DDX1, TBC1D32, TAF6L, CDK20, FOXJ1, HSD17B10, RNF157, YAP1


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 BSDC1_HDAC1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneHDAC1Q13547DB01169Arsenic trioxideHistone deacetylase 1small moleculeapproved|investigational
TgeneHDAC1Q13547DB01593ZincHistone deacetylase 1small moleculeapproved|investigational
TgeneHDAC1Q13547DB02546VorinostatHistone deacetylase 1small moleculeapproved|investigational
TgeneHDAC1Q13547DB05015BelinostatHistone deacetylase 1small moleculeapproved|investigational
TgeneHDAC1Q13547DB06176RomidepsinHistone deacetylase 1small moleculeapproved|investigational
TgeneHDAC1Q13547DB06603PanobinostatHistone deacetylase 1small moleculeapproved|investigational
TgeneHDAC1Q13547DB08868FingolimodHistone deacetylase 1small moleculeapproved|investigational

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RelatedDiseases for BSDC1_HDAC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneHDAC1C0036341Schizophrenia2PSYGENET
TgeneHDAC1C0007137Squamous cell carcinoma1CTD_human
TgeneHDAC1C0014175Endometriosis1CTD_human
TgeneHDAC1C0018799Heart Diseases1CTD_human
TgeneHDAC1C0340543Familial primary pulmonary hypertension1CTD_human
TgeneHDAC1C0525045Mood Disorders1PSYGENET