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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: 546

FusionGeneSummary for ACTG1_CLCN3

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTG1_CLCN3
Fusion gene ID: 546
HgeneTgene
Gene symbol

ACTG1

CLCN3

Gene ID

71

1182

Gene nameactin gamma 1chloride voltage-gated channel 3
SynonymsACT|ACTG|DFNA20|DFNA26|HEL-176CLC3|ClC-3
Cytomap

17q25.3

4q33

Type of geneprotein-codingprotein-coding
Descriptionactin, cytoplasmic 2cytoskeletal gamma-actinepididymis luminal protein 176H(+)/Cl(-) exchange transporter 3chloride channel 3chloride channel protein 3chloride channel, voltage-sensitive 3chloride transporter ClC-3
Modification date2018052220180523
UniProtAcc

P63261

P51790

Ensembl transtripts involved in fusion geneENST00000331925, ENST00000573283, 
ENST00000575842, ENST00000575087, 
ENST00000513761, ENST00000347613, 
ENST00000360642, ENST00000504131, 
ENST00000506924, 
Fusion gene scores* DoF score25 X 19 X 11=522536 X 4 X 19=2736
# samples 3439
** MAII scorelog2(34/5225*10)=-3.94182438571791
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(39/2736*10)=-2.81052220113629
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACTG1 [Title/Abstract] AND CLCN3 [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
TgeneCLCN3

GO:1902476

chloride transmembrane transport

11274166


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
TCGARVKIRPTCGA-BQ-5878-01AACTG1chr17

79476999

-CLCN3chr4

170623929

+
TCGARVUCECTCGA-EY-A1GO-01AACTG1chr17

79476999

-CLCN3chr4

170623929

+
* 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-intronENST00000331925ENST00000513761ACTG1chr17

79476999

-CLCN3chr4

170623929

+
5CDS-intronENST00000331925ENST00000347613ACTG1chr17

79476999

-CLCN3chr4

170623929

+
5CDS-intronENST00000331925ENST00000360642ACTG1chr17

79476999

-CLCN3chr4

170623929

+
5CDS-intronENST00000331925ENST00000504131ACTG1chr17

79476999

-CLCN3chr4

170623929

+
5CDS-intronENST00000331925ENST00000506924ACTG1chr17

79476999

-CLCN3chr4

170623929

+
intron-intronENST00000573283ENST00000513761ACTG1chr17

79476999

-CLCN3chr4

170623929

+
intron-intronENST00000573283ENST00000347613ACTG1chr17

79476999

-CLCN3chr4

170623929

+
intron-intronENST00000573283ENST00000360642ACTG1chr17

79476999

-CLCN3chr4

170623929

+
intron-intronENST00000573283ENST00000504131ACTG1chr17

79476999

-CLCN3chr4

170623929

+
intron-intronENST00000573283ENST00000506924ACTG1chr17

79476999

-CLCN3chr4

170623929

+
intron-intronENST00000575842ENST00000513761ACTG1chr17

79476999

-CLCN3chr4

170623929

+
intron-intronENST00000575842ENST00000347613ACTG1chr17

79476999

-CLCN3chr4

170623929

+
intron-intronENST00000575842ENST00000360642ACTG1chr17

79476999

-CLCN3chr4

170623929

+
intron-intronENST00000575842ENST00000504131ACTG1chr17

79476999

-CLCN3chr4

170623929

+
intron-intronENST00000575842ENST00000506924ACTG1chr17

79476999

-CLCN3chr4

170623929

+
intron-intronENST00000575087ENST00000513761ACTG1chr17

79476999

-CLCN3chr4

170623929

+
intron-intronENST00000575087ENST00000347613ACTG1chr17

79476999

-CLCN3chr4

170623929

+
intron-intronENST00000575087ENST00000360642ACTG1chr17

79476999

-CLCN3chr4

170623929

+
intron-intronENST00000575087ENST00000504131ACTG1chr17

79476999

-CLCN3chr4

170623929

+
intron-intronENST00000575087ENST00000506924ACTG1chr17

79476999

-CLCN3chr4

170623929

+

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FusionProtFeatures for ACTG1_CLCN3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACTG1

P63261

CLCN3

P51790

Actins are highly conserved proteins that are involvedin various types of cell motility and are ubiquitously expressedin all eukaryotic cells. Mediates the exchange of chloride ions against protons.Functions as antiporter and contributes to the acidification ofthe endosome and synaptic vesicle lumen, and may thereby affectvesicle trafficking and exocytosis. May play an important role inneuronal cell function through regulation of membrane excitabilityby protein kinase C. It could help neuronal cells to establishshort-term memory. {ECO:0000269|PubMed:11967229}.

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 ACTG1_CLCN3


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 ACTG1_CLCN3


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
ACTG1CFL2, CFL1, ACTG1, ACTB, DSTN, CDH1, TMSB4X, FHOD1, EPS8L1, EPS8L2, FEZ1, CTNND1, ST3GAL3, SH3GL2, EIF6, PFN2, PRSS23, BCAP31, RBX1, MDK, CAP1, CAP2, RUVBL2, MEPCE, RUVBL1, MORF4L1, MORF4L2, MRGBP, DMAP1, KAT5, POU5F1, UCHL5, YWHAQ, DISC1, TNIK, RPS6KA5, MAPK6, NDRG1, SP1, UBE2Q2, FBXO25, MYOC, LRRK2, APOE, PSEN2, BRCA1, LIG4, TSGA10, TRAF3IP1, GZMK, GZMA, HSP90AA1, HSP90AB1, PPP1CC, MYC, MLH1, UBL4A, ITGA4, ILF3, AICDA, WIPF1, FN1, CTTN, ADRB2, PLD1, CTBP2, GIT2, GRB2, COTL1, WASL, FBXO6, TOPBP1, CDKN2A, ACTA1, ACTBL2, BRK1, HSPA5, UBASH3B, ERRFI1, LGR4, EHHADH, CCDC22, WDYHV1, CCDC101, CCDC8, EZH2, SUZ12, EED, RNF2, BMI1, FAF2, RPS6KB2, CORO1B, CORO1C, CAD, EEF1A1, EEF1A2, NCKAP1, RAN, YARS, SFN, HSPB2, SRPK2, HIST1H3E, CAPZA2, CDK2, DBN1, FLNA, MYH9, MYO1C, PPP1CB, VCL, IQGAP1, PDLIM7, LIMA1, ANLN, MYO5C, MYO19, MYO18A, TRAF2, VASP, GAN, MCM2, SHC1, ERBB3, RC3H1, DUSP19, C17orf89, MCPH1, HDAC6CLCN3CLCN3, SLC9A3R1, PDZK1, GOPC, CFTR, LGALS3, LGALS8, LGALS9, LYPD3, HSPB1, TMEM9B, GGA1, TPCN2, TRIM25


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 ACTG1_CLCN3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneACTG1P63261DB11638ArtenimolActin, cytoplasmic 2small moleculeapproved|investigational

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RelatedDiseases for ACTG1_CLCN3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACTG1C1858172Deafness, Autosomal Dominant 205CTD_human;UNIPROT
HgeneACTG1C0007621Neoplastic Cell Transformation1CTD_human
HgeneACTG1C0009363Congenital ocular coloboma (disorder)1CTD_human
HgeneACTG1C0024667Animal Mammary Neoplasms1CTD_human
HgeneACTG1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneACTG1C0029456Osteoporosis1CTD_human
HgeneACTG1C0376634Craniofacial Abnormalities1CTD_human
HgeneACTG1C0497552Congenital neurologic anomalies1CTD_human
HgeneACTG1C0948089Acute Coronary Syndrome1CTD_human
HgeneACTG1C3281235BARAITSER-WINTER SYNDROME 21UNIPROT
TgeneCLCN3C0017638Glioma1CTD_human
TgeneCLCN3C0038356Stomach Neoplasms1CTD_human
TgeneCLCN3C2931822Nasopharyngeal carcinoma1CTD_human