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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: 5729

FusionGeneSummary for CBX8_ACTL6A

check button Fusion gene summary
Fusion gene informationFusion gene name: CBX8_ACTL6A
Fusion gene ID: 5729
HgeneTgene
Gene symbol

CBX8

ACTL6A

Gene ID

57332

86

Gene namechromobox 8actin like 6A
SynonymsPC3|RC1ACTL6|ARPN-BETA|Arp4|BAF53A|INO80K
Cytomap

17q25.3

3q26.33

Type of geneprotein-codingprotein-coding
Descriptionchromobox protein homolog 8Pc class 3 homologchromobox homolog 8 (Pc class homolog, Drosophila)polycomb 3rectachrome 1actin-like protein 6A53 kDa BRG1-associated factor ABAF complex 53 kDa subunitBAF53BRG1-associated factor 53AINO80 complex subunit Kactin-related protein 4actin-related protein Baf53aarpNbetahArpN beta
Modification date2018051920180519
UniProtAcc

Q9HC52

O96019

Ensembl transtripts involved in fusion geneENST00000269385, ENST00000485449, 
ENST00000429709, ENST00000450518, 
ENST00000392662, ENST00000467615, 
Fusion gene scores* DoF score1 X 1 X 1=14 X 4 X 2=32
# samples 14
** MAII scorelog2(1/1*10)=3.32192809488736log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CBX8 [Title/Abstract] AND ACTL6A [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
TgeneACTL6A

GO:0006338

chromatin remodeling

11726552

TgeneACTL6A

GO:0043967

histone H4 acetylation

14966270

TgeneACTL6A

GO:0043968

histone H2A acetylation

14966270


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
TCGALDBRCATCGA-AQ-A04H-01BCBX8chr17

77775200

-ACTL6Achr3

179298682

+
* 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-3CDSENST00000269385ENST00000429709CBX8chr17

77775200

-ACTL6Achr3

179298682

+
intron-3CDSENST00000269385ENST00000450518CBX8chr17

77775200

-ACTL6Achr3

179298682

+
intron-3CDSENST00000269385ENST00000392662CBX8chr17

77775200

-ACTL6Achr3

179298682

+
intron-3UTRENST00000269385ENST00000467615CBX8chr17

77775200

-ACTL6Achr3

179298682

+
5UTR-3CDSENST00000485449ENST00000429709CBX8chr17

77775200

-ACTL6Achr3

179298682

+
5UTR-3CDSENST00000485449ENST00000450518CBX8chr17

77775200

-ACTL6Achr3

179298682

+
5UTR-3CDSENST00000485449ENST00000392662CBX8chr17

77775200

-ACTL6Achr3

179298682

+
5UTR-3UTRENST00000485449ENST00000467615CBX8chr17

77775200

-ACTL6Achr3

179298682

+

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FusionProtFeatures for CBX8_ACTL6A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CBX8

Q9HC52

ACTL6A

O96019

Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain thetranscriptionally repressive state of many genes, including Hoxgenes, throughout development. PcG PRC1 complex acts via chromatinremodeling and modification of histones; it mediatesmonoubiquitination of histone H2A 'Lys-119', rendering chromatinheritably changed in its expressibility.{ECO:0000269|PubMed:21282530}. Involved in transcriptional activation and repression ofselect genes by chromatin remodeling (alteration of DNA-nucleosometopology). Component of SWI/SNF chromatin remodeling complexesthat carry out key enzymatic activities, changing chromatinstructure by altering DNA-histone contacts within a nucleosome inan ATP-dependent manner. Required for maximal ATPase activity ofSMARCA4/BRG1/BAF190A and for association of theSMARCA4/BRG1/BAF190A containing remodeling complex BAF withchromatin/nuclear matrix. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and isrequired for the proliferation of neural progenitors. Duringneural development a switch from a stem/progenitor to apostmitotic chromatin remodeling mechanism occurs as neurons exitthe cell cycle and become committed to their adult state. Thetransition from proliferating neural stem/progenitor cells topostmitotic neurons requires a switch in subunit composition ofthe npBAF and nBAF complexes. As neural progenitors exit mitosisand differentiate into neurons, npBAF complexes which containACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologousalternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunitsin neuron-specific complexes (nBAF). The npBAF complex isessential for the self-renewal/proliferative capacity of themultipotent neural stem cells. The nBAF complex along with CRESTplays a role regulating the activity of genes essential fordendrite growth (By similarity). Component of the NuA4 histoneacetyltransferase (HAT) complex which is involved intranscriptional activation of select genes principally byacetylation of nucleosomal histones H4 and H2A. This modificationmay both alter nucleosome - DNA interactions and promoteinteraction of the modified histones with other proteins whichpositively regulate transcription. This complex may be requiredfor the activation of transcriptional programs associated withoncogene and proto-oncogene mediated growth induction, tumorsuppressor mediated growth arrest and replicative senescence,apoptosis, and DNA repair. NuA4 may also play a direct role in DNArepair when recruited to sites of DNA damage. Putative corecomponent of the chromatin remodeling INO80 complex which isinvolved in transcriptional regulation, DNA replication andprobably DNA repair. {ECO:0000250|UniProtKB:Q9Z2N8,ECO:0000269|PubMed:14966270, ECO:0000303|PubMed:15196461,ECO:0000303|PubMed:22952240, ECO:0000303|PubMed:26601204}.

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 CBX8_ACTL6A


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 CBX8_ACTL6A


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
CBX8RING1, HAP1, SETDB1, EEF1G, KAT5, KAT7, UNC119, MLLT1, PCGF2, BMI1, CENPA, USP7, USP11, CBX8, HIST3H3, RNF2, PHC1, PHC2, PHC3, CBX4, KMT2A, PAXIP1, BCLAF1, CSNK2A1, CSNK2B, YBX3, DGKZ, DIMT1, LIG3, EP300, ESCO2, FBL, GNB2L1, HIST1H2AB, HIST1H2BA, HIST4H4, IGF2BP1, IGF2BP2, IGF2BP3, ILF2, ILF3, SPAG9, LOC100131689, KRI1, KRR1, LTV1, NIFK, MOV10, KIF20B, NBN, MGEA5, NFIL3, GTPBP4, NOP2, NPM1, HMGN5, NCL, PCGF1, PCGF3, PCGF5, PCGF6, PDCD11, SETD2, PPAN, STAU1, ALYREF, TSR1, UBR1, YBX1, YTHDC2, ZCCHC3, ZFR, ZNF717, CHAMP1, GOLGA2, KIFC3, SOX5, TFCP2, TRAF2, ZBTB14, CALCOCO2, IKZF1, PNMA2, MID2, MTUS2, KCTD9, RPGRIP1, CCDC136, HMBOX1, TSGA10, LZTS2, GPRASP2, FSD2, KRT40, CCDC57, SUZ12, EED, HIST1H2BG, CENPB, E2F6, HIST1H1B, NUMA1, PSMB7, RPL10, RPL18A, RPL22, RPS3A, RPS6, RPS8, RPS12, RPS14, RPS20, H1FX, GTF3C4, SCML2, BAZ2A, ICE1, C10orf12, RSL1D1, H2BFS, EXOSC4, CHST12, ZC3HAV1, HNRNPU, DDX54, CMSS1, ESCO1, FTSJ3, CDC14B, SFTPCACTL6AEWSR1, RELB, EP400, SMARCA4, SMARCB1, SMARCA2, MYC, RUVBL1, KAT2A, TRRAP, KAT5, SMARCE1, ARHGDIA, ING1, ING2, ING3, RUVBL2, BANF1, FLII, BCL7C, MRGBP, INO80, YY1, MORF4L1, MORF4L2, UBC, INO80E, H2AFZ, ACTR5, ACTR8, TFPT, INO80B, INO80C, INO80D, MCRS1, NFRKB, DMAP1, PBRM1, SMARCAD1, SOX2, HDGF, SMARCC2, SMARCD1, TP53, CDK2, CDK9, SMARCC1, CUL3, CAND1, UCHL5, GRB2, ARID1A, ARID1B, CBX5, HDAC2, FBXO6, HECW2, SHMT2, MOV10, NXF1, BMI1, DPF3, ZRANB2, DPF2, CYB5R3, RAB1B, PDCL, SF1, ETF1, TSFM, METAP2, SF3A1, RAB14, RPRD1B, MTDH, USO1, HDLBP, MAP2K2, RAP1BL, RIC8B, DDRGK1, CCT7, CCT3, HDGFRP2, CCT6B, CCT6A, CCT2, HINT1, TCP1, CCT4, SS18, HIST1H2BA, SMARCD2, SMARCD3, TBL1XR1, NTRK1, HIST1H3E, YEATS4, KIF7, TCF4, FOXN1, FOXO6, FOXR1, NFATC1, NFATC2, EPC1, MBTD1, FEN1, BCL7A, NCL, ZNHIT1, DLST, 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 CBX8_ACTL6A


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 CBX8_ACTL6A


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