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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ACTG1-CCT5 (FusionGDB2 ID:1785)

Fusion Gene Summary for ACTG1-CCT5

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTG1-CCT5
Fusion gene ID: 1785
HgeneTgene
Gene symbol

ACTG1

CCT5

Gene ID

71

22948

Gene nameactin gamma 1chaperonin containing TCP1 subunit 5
SynonymsACT|ACTG|DFNA20|DFNA26|HEL-176CCT-epsilon|CCTE|HEL-S-69|PNAS-102|TCP-1-epsilon
Cytomap

17q25.3

5p15.2

Type of geneprotein-codingprotein-coding
Descriptionactin, cytoplasmic 2cytoskeletal gamma-actinepididymis luminal protein 176T-complex protein 1 subunit epsilonchaperonin containing TCP1, subunit 5 (epsilon)epididymis secretory protein Li 69
Modification date2020032720200313
UniProtAcc

P63261

P48643

Ensembl transtripts involved in fusion geneENST00000331925, ENST00000573283, 
ENST00000575842, ENST00000575087, 
ENST00000280326, ENST00000503026, 
ENST00000515390, ENST00000515676, 
ENST00000506600, 
Fusion gene scores* DoF score51 X 36 X 13=2386858 X 14 X 17=13804
# samples 5861
** MAII scorelog2(58/23868*10)=-5.36288097153997
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(61/13804*10)=-4.50013332598527
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACTG1 [Title/Abstract] AND CCT5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACTG1(79476999)-CCT5(10250033), # samples:1
Anticipated loss of major functional domain due to fusion event.ACTG1-CCT5 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ACTG1-CCT5 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ACTG1-CCT5 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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

check buttonFusion gene breakpoints across ACTG1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CCT5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4PRADTCGA-G9-6371-01AACTG1chr17

79476999

-CCT5chr5

10250033

+


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Fusion Gene ORF analysis for ACTG1-CCT5

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
Frame-shiftENST00000331925ENST00000280326ACTG1chr17

79476999

-CCT5chr5

10250033

+
5CDS-intronENST00000331925ENST00000503026ACTG1chr17

79476999

-CCT5chr5

10250033

+
5CDS-intronENST00000331925ENST00000515390ACTG1chr17

79476999

-CCT5chr5

10250033

+
5CDS-intronENST00000331925ENST00000515676ACTG1chr17

79476999

-CCT5chr5

10250033

+
5CDS-intronENST00000331925ENST00000506600ACTG1chr17

79476999

-CCT5chr5

10250033

+
intron-3CDSENST00000573283ENST00000280326ACTG1chr17

79476999

-CCT5chr5

10250033

+
intron-intronENST00000573283ENST00000503026ACTG1chr17

79476999

-CCT5chr5

10250033

+
intron-intronENST00000573283ENST00000515390ACTG1chr17

79476999

-CCT5chr5

10250033

+
intron-intronENST00000573283ENST00000515676ACTG1chr17

79476999

-CCT5chr5

10250033

+
intron-intronENST00000573283ENST00000506600ACTG1chr17

79476999

-CCT5chr5

10250033

+
intron-3CDSENST00000575842ENST00000280326ACTG1chr17

79476999

-CCT5chr5

10250033

+
intron-intronENST00000575842ENST00000503026ACTG1chr17

79476999

-CCT5chr5

10250033

+
intron-intronENST00000575842ENST00000515390ACTG1chr17

79476999

-CCT5chr5

10250033

+
intron-intronENST00000575842ENST00000515676ACTG1chr17

79476999

-CCT5chr5

10250033

+
intron-intronENST00000575842ENST00000506600ACTG1chr17

79476999

-CCT5chr5

10250033

+
intron-3CDSENST00000575087ENST00000280326ACTG1chr17

79476999

-CCT5chr5

10250033

+
intron-intronENST00000575087ENST00000503026ACTG1chr17

79476999

-CCT5chr5

10250033

+
intron-intronENST00000575087ENST00000515390ACTG1chr17

79476999

-CCT5chr5

10250033

+
intron-intronENST00000575087ENST00000515676ACTG1chr17

79476999

-CCT5chr5

10250033

+
intron-intronENST00000575087ENST00000506600ACTG1chr17

79476999

-CCT5chr5

10250033

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for ACTG1-CCT5


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
ACTG1chr1779476996-CCT5chr510250032+3.64E-050.9999635
ACTG1chr1779476996-CCT5chr510250032+3.64E-050.9999635

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for ACTG1-CCT5


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

P63261

CCT5

P48643

FUNCTION: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. {ECO:0000305|PubMed:29581253}.FUNCTION: Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). The TRiC complex plays a role in the folding of actin and tubulin (Probable). {ECO:0000269|PubMed:20080638, ECO:0000269|PubMed:25467444, ECO:0000305}.

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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Fusion Gene Sequence for ACTG1-CCT5


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for ACTG1-CCT5


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


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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Related Drugs for ACTG1-CCT5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneACTG1P63261DB09130CopperSmall moleculeApproved|Investigational
HgeneACTG1P63261DB09130CopperSmall moleculeApproved|Investigational

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Related Diseases for ACTG1-CCT5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACTG1C3711374Nonsyndromic Deafness18CLINGEN
HgeneACTG1C1858172Deafness, Autosomal Dominant 208CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneACTG1C3281235BARAITSER-WINTER SYNDROME 24CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneACTG1C0001787Osteoporosis, Age-Related1CTD_human
HgeneACTG1C0005745Blepharoptosis1GENOMICS_ENGLAND
HgeneACTG1C0007097Carcinoma1CTD_human
HgeneACTG1C0007621Neoplastic Cell Transformation1CTD_human
HgeneACTG1C0009363Congenital ocular coloboma (disorder)1CTD_human
HgeneACTG1C0014544Epilepsy1GENOMICS_ENGLAND
HgeneACTG1C0024433Macrostomia1GENOMICS_ENGLAND
HgeneACTG1C0024667Animal Mammary Neoplasms1CTD_human
HgeneACTG1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneACTG1C0029456Osteoporosis1CTD_human
HgeneACTG1C0029459Osteoporosis, Senile1CTD_human
HgeneACTG1C0033377Ptosis1GENOMICS_ENGLAND
HgeneACTG1C0205696Anaplastic carcinoma1CTD_human
HgeneACTG1C0205697Carcinoma, Spindle-Cell1CTD_human
HgeneACTG1C0205698Undifferentiated carcinoma1CTD_human
HgeneACTG1C0205699Carcinomatosis1CTD_human
HgeneACTG1C0240583Short upturned nose1GENOMICS_ENGLAND
HgeneACTG1C0265541Cranioschisis1CTD_human
HgeneACTG1C0266551Congenital coloboma of iris1ORPHANET
HgeneACTG1C0376634Craniofacial Abnormalities1CTD_human
HgeneACTG1C0497552Congenital neurologic anomalies1CTD_human
HgeneACTG1C0751406Post-Traumatic Osteoporosis1CTD_human
HgeneACTG1C0857379Abnormality of the pinna1GENOMICS_ENGLAND
HgeneACTG1C0948089Acute Coronary Syndrome1CTD_human
HgeneACTG1C1257925Mammary Carcinoma, Animal1CTD_human
HgeneACTG1C1384666hearing impairment1GENOMICS_ENGLAND
HgeneACTG1C1843156Progressive sensorineural hearing impairment1GENOMICS_ENGLAND
HgeneACTG1C1844505Pointed chin1GENOMICS_ENGLAND
HgeneACTG1C1849340Long palpebral fissure1GENOMICS_ENGLAND
HgeneACTG1C1855722Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation1ORPHANET
HgeneACTG1C1865014Long philtrum1GENOMICS_ENGLAND
HgeneACTG1C1865017Thin upper lip vermilion1GENOMICS_ENGLAND
HgeneACTG1C1868571Highly arched eyebrow1GENOMICS_ENGLAND
HgeneACTG1C1970280Hearing loss begins with loss of high frequencies1GENOMICS_ENGLAND
HgeneACTG1C1970281Audiogram shows sloping configuration1GENOMICS_ENGLAND
HgeneACTG1C1970282Deafness, profound, by 6th decade1GENOMICS_ENGLAND
HgeneACTG1C3279369Microphthalmia (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C3549665Deafness (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C3808883Short neck (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4012410Enlarged ventricles (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4229649Heart defect (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4229650Pterygium colli (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4229651Hypertelorism/telecanthus1GENOMICS_ENGLAND
HgeneACTG1C4229652Eye coloboma (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4229653Trigonocephaly/metopic ridge1GENOMICS_ENGLAND
HgeneACTG1C4231117Pectus (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4231118Kyphosis/scoliosis (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4231120Prominent nasal root on profile1GENOMICS_ENGLAND
HgeneACTG1C4231121Large, squared nose tip1GENOMICS_ENGLAND
HgeneACTG1C4231123Retrognathia (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4231124Prominent/full/wide cheeks1GENOMICS_ENGLAND
HgeneACTG1C4554007Uveoretinal Coloboma1CTD_human
HgeneACTG1C4708599Coloboma of choroid and retina1ORPHANET
TgeneCCT5C1850395Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneCCT5C0006142Malignant neoplasm of breast1CTD_human
TgeneCCT5C0019193Hepatitis, Toxic1CTD_human
TgeneCCT5C0019693HIV Infections1CTD_human
TgeneCCT5C0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneCCT5C0678222Breast Carcinoma1CTD_human
TgeneCCT5C0860207Drug-Induced Liver Disease1CTD_human
TgeneCCT5C1257931Mammary Neoplasms, Human1CTD_human
TgeneCCT5C1262760Hepatitis, Drug-Induced1CTD_human
TgeneCCT5C1458155Mammary Neoplasms1CTD_human
TgeneCCT5C3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneCCT5C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneCCT5C4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneCCT5C4505456HIV Coinfection1CTD_human
TgeneCCT5C4704874Mammary Carcinoma, Human1CTD_human