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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: 5717

FusionGeneSummary for CBX5_GTSF1

check button Fusion gene summary
Fusion gene informationFusion gene name: CBX5_GTSF1
Fusion gene ID: 5717
HgeneTgene
Gene symbol

CBX5

GTSF1

Gene ID

23468

121355

Gene namechromobox 5gametocyte specific factor 1
SynonymsHEL25|HP1|HP1AFAM112B
Cytomap

12q13.13

12q13.13

Type of geneprotein-codingprotein-coding
Descriptionchromobox protein homolog 5HP1 alpha homologHP1-ALPHAHP1Hs alphaantigen p25chromobox homolog 5 (HP1 alpha homolog, Drosophila)epididymis luminal protein 25heterochromatin protein 1 homolog alphaheterochromatin protein 1-alphagametocyte-specific factor 1family with sequence similarity 112, member B
Modification date2018051920180519
UniProtAcc

P45973

Q8WW33

Ensembl transtripts involved in fusion geneENST00000209875, ENST00000439541, 
ENST00000550411, 
ENST00000552397, 
ENST00000305879, ENST00000552395, 
Fusion gene scores* DoF score9 X 7 X 8=5043 X 3 X 4=36
# samples 104
** MAII scorelog2(10/504*10)=-2.33342373372519
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CBX5 [Title/Abstract] AND GTSF1 [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
HgeneCBX5

GO:0045892

negative regulation of transcription, DNA-templated

9636147


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
TCGALDOVTCGA-25-1329-01ACBX5chr12

54645825

-GTSF1chr12

54865061

-
* 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-5UTRENST00000209875ENST00000552397CBX5chr12

54645825

-GTSF1chr12

54865061

-
5CDS-5UTRENST00000209875ENST00000305879CBX5chr12

54645825

-GTSF1chr12

54865061

-
5CDS-5UTRENST00000209875ENST00000552395CBX5chr12

54645825

-GTSF1chr12

54865061

-
5CDS-5UTRENST00000439541ENST00000552397CBX5chr12

54645825

-GTSF1chr12

54865061

-
5CDS-5UTRENST00000439541ENST00000305879CBX5chr12

54645825

-GTSF1chr12

54865061

-
5CDS-5UTRENST00000439541ENST00000552395CBX5chr12

54645825

-GTSF1chr12

54865061

-
5CDS-5UTRENST00000550411ENST00000552397CBX5chr12

54645825

-GTSF1chr12

54865061

-
5CDS-5UTRENST00000550411ENST00000305879CBX5chr12

54645825

-GTSF1chr12

54865061

-
5CDS-5UTRENST00000550411ENST00000552395CBX5chr12

54645825

-GTSF1chr12

54865061

-

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FusionProtFeatures for CBX5_GTSF1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CBX5

P45973

GTSF1

Q8WW33

Component of heterochromatin that recognizes and bindshistone H3 tails methylated at 'Lys-9' (H3K9me), leading toepigenetic repression. In contrast, it is excluded from chromatinwhen 'Tyr-41' of histone H3 is phosphorylated (H3Y41ph). Caninteract with lamin-B receptor (LBR). This interaction cancontribute to the association of the heterochromatin with theinner nuclear membrane. Involved in the formation of functionalkinetochore through interaction with MIS12 complex proteins.{ECO:0000269|PubMed:19783980}. Required for spermatogenesis and is involved in thesuppression of retrotransposon transcription in male germ cells.{ECO:0000250|UniProtKB:Q9DAN6}.

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 CBX5_GTSF1


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 CBX5_GTSF1


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
CBX5XRCC6, SUV39H1, LBR, PRR14, TCEB3B, MIS12, DSN1, NSL1, RPSA, DNMT3B, DNMT1, DNMT3A, MBD1, CHAF1A, CHAF1B, SMARCA4, TRIM28, RB1, TAF4, TBP, CBX1, CBX3, CBX5, HIST3H2A, HIST3H2BB, HIST4H4, HIST2H3A, ARL5A, SP100, L3MBTL1, MECP2, ATRX, CHD1L, SETDB1, SUV420H2, HIST1H3A, PARP2, HDLBP, STAM2, NIPBL, CHD4, RBBP4, BCL11B, NR2F1, SP1, EHMT2, H3F3A, ORC2, HIST3H3, SUB1, SMARCA2, LRIF1, ARHGDIA, AURKB, SGOL1, HIST1H1B, ADNP, ADNP2, KLF11, H2AFX, VHL, FSHR, HIST1H1E, H2AFY, H2AFY2, HIST1H3B, POGZ, ZNF462, CHAMP1, KPNA2, EHMT1, KPNA3, SUV39H2, KPNA4, RPL26, SENP7, ZNF829, ACTL6A, WIZ, ZNF483, RPL26P30, ZNF8, ZMYM3, ZNF280D, AHDC1, ZNF324, ZNF302, IPO8, ZNF747, ZFP1, PPP2CB, RBBP4P1, RBBP7, CDCA8, SCAI, INCENP, PPP2CA, ZNF568, ZNF764, ZNF460, ZNF625, MAU2, ZNF773, BGLAP, NARF, MAP7D3, TIMM50, PPP2R5A, ZNF689, ZNF566, ZNF569, ZNF227, ZNF264, ZNF324B, PPP2R5E, SUZ12, ZNF585B, ZNF585A, ZNF620, ZNF688, ZFP82, ZNF552, RPL5, ZNF274, ZNF45, ZNF195, BCL7A, ZNF649, ZNF518A, TRIM39, MCC, TCEB1, XRN1, SRPK2, SRPK1, RARA, ZBTB16, VPS28, WHSC1L1, GOLGA8EP, UBE2A, UBE2B, MAP1LC3A, NCL, MAD2L2, CUL7, OBSL1, ABCE1, ZNF621, ZNF114, ZNF562, UNK, IFI16, HIST1H3E, DAXX, NLRP3, NOP9, RRP1B, BARD1, BRCA1, STAT5A, NFATC2, BMI1, TCAP, CPLX4, ENSA, ZNF354C, XAGE2, FAM19A3, ZNF785, NPB, LRCH3, FOXA1, GTF2IRD1GTSF1HSPB1, RGP1, MAPK14


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 CBX5_GTSF1


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 CBX5_GTSF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource