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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: 5709

FusionGeneSummary for CBX1_SKAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: CBX1_SKAP1
Fusion gene ID: 5709
HgeneTgene
Gene symbol

CBX1

SKAP1

Gene ID

10951

8631

Gene namechromobox 1src kinase associated phosphoprotein 1
SynonymsCBX|HP1-BETA|HP1Hs-beta|HP1Hsbeta|M31|MOD1|p25betaHEL-S-81p|SCAP1|SKAP55
Cytomap

17q21.32

17q21.32

Type of geneprotein-codingprotein-coding
Descriptionchromobox protein homolog 1HP1 beta homologchromobox homolog 1 (HP1 beta homolog Drosophila )heterochromatin protein 1 homolog betaheterochromatin protein 1-betaheterochromatin protein p25 betamodifier 1 proteinsrc kinase-associated phosphoprotein 1SKAP-55epididymis secretory sperm binding protein Li 81ppp55src family-associated phosphoprotein 1src kinase-associated phosphoprotein of 55 kDa
Modification date2018052220180523
UniProtAcc

P83916

Q86WV1

Ensembl transtripts involved in fusion geneENST00000393408, ENST00000225603, 
ENST00000495350, 
ENST00000336915, 
ENST00000584924, 
Fusion gene scores* DoF score4 X 2 X 3=2422 X 8 X 9=1584
# samples 422
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(22/1584*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CBX1 [Title/Abstract] AND SKAP1 [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
TgeneSKAP1

GO:0045944

positive regulation of transcription by RNA polymerase II

11909961


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-29-1697-01ACBX1chr17

46154227

-SKAP1chr17

46214699

-
* 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
In-frameENST00000393408ENST00000336915CBX1chr17

46154227

-SKAP1chr17

46214699

-
Frame-shiftENST00000393408ENST00000584924CBX1chr17

46154227

-SKAP1chr17

46214699

-
In-frameENST00000225603ENST00000336915CBX1chr17

46154227

-SKAP1chr17

46214699

-
Frame-shiftENST00000225603ENST00000584924CBX1chr17

46154227

-SKAP1chr17

46214699

-
In-frameENST00000495350ENST00000336915CBX1chr17

46154227

-SKAP1chr17

46214699

-
Frame-shiftENST00000495350ENST00000584924CBX1chr17

46154227

-SKAP1chr17

46214699

-

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FusionProtFeatures for CBX1_SKAP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CBX1

P83916

SKAP1

Q86WV1

Component of heterochromatin. Recognizes and bindshistone H3 tails methylated at 'Lys-9', leading to epigeneticrepression. Interaction with lamin B receptor (LBR) can contributeto the association of the heterochromatin with the inner nuclearmembrane. Positively regulates T-cell receptor signaling byenhancing the MAP kinase pathway. Required for optimal conjugationbetween T-cells and antigen-presenting cells by promoting theclustering of integrin ITGAL on the surface of T-cells. May beinvolved in high affinity immunoglobulin epsilon receptorsignaling in mast cells. {ECO:0000269|PubMed:10856234,ECO:0000269|PubMed:11909961, ECO:0000269|PubMed:12652296,ECO:0000269|PubMed:15939789, ECO:0000269|PubMed:16980616}.

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
HgeneCBX1chr17:46154227chr17:46214699ENST00000225603-25117_17546186DomainChromo 2%3B shadow subtype
HgeneCBX1chr17:46154227chr17:46214699ENST00000225603-2521_7946186DomainChromo 1
HgeneCBX1chr17:46154227chr17:46214699ENST00000393408-25117_17546186DomainChromo 2%3B shadow subtype
HgeneCBX1chr17:46154227chr17:46214699ENST00000393408-2521_7946186DomainChromo 1
TgeneSKAP1chr17:46154227chr17:46214699ENST00000336915-1013220_230326448Compositional biasNote=Poly-Glu
TgeneSKAP1chr17:46154227chr17:46214699ENST00000584924-1012220_230326360Compositional biasNote=Poly-Glu
TgeneSKAP1chr17:46154227chr17:46214699ENST00000336915-1013107_210326448DomainPH
TgeneSKAP1chr17:46154227chr17:46214699ENST00000336915-1013294_355326448DomainSH3
TgeneSKAP1chr17:46154227chr17:46214699ENST00000584924-1012107_210326360DomainPH
TgeneSKAP1chr17:46154227chr17:46214699ENST00000584924-1012294_355326360DomainSH3


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FusionGeneSequence for CBX1_SKAP1


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 CBX1_SKAP1


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
CBX1C11orf30, DNMT1, DNMT3A, RB1, SUV39H1, RPL12, UCHL1, LRIF1, TRIM28, CBX1, CBX3, CBX5, PIM1, ARL5A, SP100, BAP1, USP17L2, MYOD1, BANF1, EHMT2, CHD1L, SUV420H2, HIST1H3A, H3F3A, ZNF382, DNMT3B, HIST3H3, NSL1, CHD4, POGZ, ADNP, ADNP2, XRCC6, CHAF1A, H2AFB1, HIST1H4F, PCNA, MECP2, KLF11, HIST1H3B, TRIM39, VTN, ABI3BP, NR2F6, VHL, PARK2, PRDM6, ZNF280D, AHDC1, CHAMP1, THRAP3, CUL7, OBSL1, RNF2, SUV39H2, HSPB1, IFI16, HIST1H3E, MAU2, H2AFY, BRCA1, BARD1, NFATC2, DUSP8, PCGF6, PRR14, VDAC1, G3BP1, GTF2IRD1SKAP1PTPRC, FYB, SRC, LYN, FYN, LCK, SKAP1, GRB2, APP, BLCAP, SH2D4A, PRAM1, FAM102A, AP3M1, MYO9B, MYO9A, POLR1B, LOC81691, EML3, WRN, ASPM, JPH1, POLR1A, POLR3A, RECQL4, HPS3, ZNF324, FAM208A, UXT, NCAPD3, MYCBP2, CUL2, PIP5K1A, NEK1, PLEKHH3, PHLDB3, PIK3C3, SEC63, SKAP2, GTF3C1, URI1, PIK3R2, PIK3R3, POLRMT, PLD2, UCKL1, PRR14L, KSR1, ZNHIT6, PDRG1, SETX, NEFL, ALMS1, APPBP2, DDX11L8, UTP15, SENP5, NCAPH2, PAX3, TBL2, ZNHIT2, ZNF644, SUGCT, PKN3, TTF2, PPHLN1, NPHP4, MTMR1, PKN2, C21orf2, POLA1, POLR3B, POLR2L, CCP110, SETD5, ELP3, DOCK7, USP54, POLR1E, TRMT44, POLR1D, EXPH5, NEK4, ATXN2, SBF1, GTPBP6, TRMT1, CD3EAP, PER1, SUPT6H, MCM8, RTEL1, TIGD5, PUSL1, KLHDC3, DYNLL2, MAP7D1


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
TgeneSKAP1chr17:46154227chr17:46214699ENST00000336915-1013290_295326448FYB1
TgeneSKAP1chr17:46154227chr17:46214699ENST00000584924-1012290_295326360FYB1


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for CBX1_SKAP1


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 CBX1_SKAP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCBX1C0033578Prostatic Neoplasms1CTD_human
TgeneSKAP1C0919267ovarian neoplasm1CTD_human