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Fusion gene ID: 5709 |
FusionGeneSummary for CBX1_SKAP1 |
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Fusion gene information | Fusion gene name: CBX1_SKAP1 | Fusion gene ID: 5709 | Hgene | Tgene | Gene symbol | CBX1 | SKAP1 | Gene ID | 10951 | 8631 |
Gene name | chromobox 1 | src kinase associated phosphoprotein 1 | |
Synonyms | CBX|HP1-BETA|HP1Hs-beta|HP1Hsbeta|M31|MOD1|p25beta | HEL-S-81p|SCAP1|SKAP55 | |
Cytomap | 17q21.32 | 17q21.32 | |
Type of gene | protein-coding | protein-coding | |
Description | chromobox protein homolog 1HP1 beta homologchromobox homolog 1 (HP1 beta homolog Drosophila )heterochromatin protein 1 homolog betaheterochromatin protein 1-betaheterochromatin protein p25 betamodifier 1 protein | src kinase-associated phosphoprotein 1SKAP-55epididymis secretory sperm binding protein Li 81ppp55src family-associated phosphoprotein 1src kinase-associated phosphoprotein of 55 kDa | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | P83916 | Q86WV1 | |
Ensembl transtripts involved in fusion gene | ENST00000393408, ENST00000225603, ENST00000495350, | ENST00000336915, ENST00000584924, | |
Fusion gene scores | * DoF score | 4 X 2 X 3=24 | 22 X 8 X 9=1584 |
# samples | 4 | 22 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | SKAP1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11909961 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | OV | TCGA-29-1697-01A | CBX1 | chr17 | 46154227 | - | SKAP1 | chr17 | 46214699 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000393408 | ENST00000336915 | CBX1 | chr17 | 46154227 | - | SKAP1 | chr17 | 46214699 | - |
Frame-shift | ENST00000393408 | ENST00000584924 | CBX1 | chr17 | 46154227 | - | SKAP1 | chr17 | 46214699 | - |
In-frame | ENST00000225603 | ENST00000336915 | CBX1 | chr17 | 46154227 | - | SKAP1 | chr17 | 46214699 | - |
Frame-shift | ENST00000225603 | ENST00000584924 | CBX1 | chr17 | 46154227 | - | SKAP1 | chr17 | 46214699 | - |
In-frame | ENST00000495350 | ENST00000336915 | CBX1 | chr17 | 46154227 | - | SKAP1 | chr17 | 46214699 | - |
Frame-shift | ENST00000495350 | ENST00000584924 | CBX1 | chr17 | 46154227 | - | SKAP1 | chr17 | 46214699 | - |
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FusionProtFeatures for CBX1_SKAP1 |
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Hgene | Tgene |
CBX1 | SKAP1 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | >CBX1 | chr17:46154227 | chr17:46214699 | ENST00000225603 | - | 2 | 5 | 117_175 | 46 | 186 | Domain | Chromo 2%3B shadow subtype |
Hgene | >CBX1 | chr17:46154227 | chr17:46214699 | ENST00000225603 | - | 2 | 5 | 21_79 | 46 | 186 | Domain | Chromo 1 |
Hgene | >CBX1 | chr17:46154227 | chr17:46214699 | ENST00000393408 | - | 2 | 5 | 117_175 | 46 | 186 | Domain | Chromo 2%3B shadow subtype |
Hgene | >CBX1 | chr17:46154227 | chr17:46214699 | ENST00000393408 | - | 2 | 5 | 21_79 | 46 | 186 | Domain | Chromo 1 |
Tgene | SKAP1 | chr17:46154227 | chr17:46214699 | ENST00000336915 | - | 10 | 13 | 220_230 | 326 | 448 | Compositional bias | Note=Poly-Glu |
Tgene | SKAP1 | chr17:46154227 | chr17:46214699 | ENST00000584924 | - | 10 | 12 | 220_230 | 326 | 360 | Compositional bias | Note=Poly-Glu |
Tgene | SKAP1 | chr17:46154227 | chr17:46214699 | ENST00000336915 | - | 10 | 13 | 107_210 | 326 | 448 | Domain | PH |
Tgene | SKAP1 | chr17:46154227 | chr17:46214699 | ENST00000336915 | - | 10 | 13 | 294_355 | 326 | 448 | Domain | SH3 |
Tgene | SKAP1 | chr17:46154227 | chr17:46214699 | ENST00000584924 | - | 10 | 12 | 107_210 | 326 | 360 | Domain | PH |
Tgene | SKAP1 | chr17:46154227 | chr17:46214699 | ENST00000584924 | - | 10 | 12 | 294_355 | 326 | 360 | Domain | SH3 |
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FusionGeneSequence for CBX1_SKAP1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CBX1 | C11orf30, 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, GTF2IRD1 | SKAP1 | PTPRC, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Tgene | SKAP1 | chr17:46154227 | chr17:46214699 | ENST00000336915 | - | 10 | 13 | 290_295 | 326 | 448 | FYB1 |
Tgene | SKAP1 | chr17:46154227 | chr17:46214699 | ENST00000584924 | - | 10 | 12 | 290_295 | 326 | 360 | FYB1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CBX1_SKAP1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CBX1_SKAP1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CBX1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | SKAP1 | C0919267 | ovarian neoplasm | 1 | CTD_human |