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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:CORO1B-ACTG1 (FusionGDB2 ID:18717)

Fusion Gene Summary for CORO1B-ACTG1

check button Fusion gene summary
Fusion gene informationFusion gene name: CORO1B-ACTG1
Fusion gene ID: 18717
HgeneTgene
Gene symbol

CORO1B

ACTG1

Gene ID

57175

71

Gene namecoronin 1Bactin gamma 1
SynonymsCORONIN-2ACT|ACTG|DFNA20|DFNA26|HEL-176
Cytomap

11q13.2

17q25.3

Type of geneprotein-codingprotein-coding
Descriptioncoronin-1Bcoronin, actin binding protein, 1Bactin, cytoplasmic 2cytoskeletal gamma-actinepididymis luminal protein 176
Modification date2020031320200327
UniProtAcc.

P63261

Ensembl transtripts involved in fusion geneENST00000393893, ENST00000341356, 
ENST00000539724, ENST00000453768, 
ENST00000545016, 
ENST00000331925, 
ENST00000573283, ENST00000575842, 
ENST00000575087, 
Fusion gene scores* DoF score3 X 3 X 3=2740 X 34 X 12=16320
# samples 347
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(47/16320*10)=-5.11783649029386
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CORO1B [Title/Abstract] AND ACTG1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCORO1B(67205622)-ACTG1(79477798), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneCORO1B

GO:0016477

cell migration

16027158

HgeneCORO1B

GO:0030036

actin cytoskeleton organization

18775315

HgeneCORO1B

GO:0031529

ruffle organization

16027158

HgeneCORO1B

GO:0034316

negative regulation of Arp2/3 complex-mediated actin nucleation

17350576|18775315

HgeneCORO1B

GO:0035767

endothelial cell chemotaxis

23667561

HgeneCORO1B

GO:0042060

wound healing

23667561

HgeneCORO1B

GO:0051017

actin filament bundle assembly

17456547

HgeneCORO1B

GO:0090135

actin filament branching

18775315

HgeneCORO1B

GO:1902463

protein localization to cell leading edge

17350576

HgeneCORO1B

GO:2000394

positive regulation of lamellipodium morphogenesis

17350576


check buttonFusion gene breakpoints across CORO1B (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 ACTG1 (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
ChimerDB4COADTCGA-AA-A03F-01ACORO1Bchr11

67205622

-ACTG1chr17

79477798

-


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Fusion Gene ORF analysis for CORO1B-ACTG1

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-3CDSENST00000393893ENST00000331925CORO1Bchr11

67205622

-ACTG1chr17

79477798

-
intron-3CDSENST00000393893ENST00000573283CORO1Bchr11

67205622

-ACTG1chr17

79477798

-
intron-3CDSENST00000393893ENST00000575842CORO1Bchr11

67205622

-ACTG1chr17

79477798

-
intron-3CDSENST00000393893ENST00000575087CORO1Bchr11

67205622

-ACTG1chr17

79477798

-
intron-3CDSENST00000341356ENST00000331925CORO1Bchr11

67205622

-ACTG1chr17

79477798

-
intron-3CDSENST00000341356ENST00000573283CORO1Bchr11

67205622

-ACTG1chr17

79477798

-
intron-3CDSENST00000341356ENST00000575842CORO1Bchr11

67205622

-ACTG1chr17

79477798

-
intron-3CDSENST00000341356ENST00000575087CORO1Bchr11

67205622

-ACTG1chr17

79477798

-
intron-3CDSENST00000539724ENST00000331925CORO1Bchr11

67205622

-ACTG1chr17

79477798

-
intron-3CDSENST00000539724ENST00000573283CORO1Bchr11

67205622

-ACTG1chr17

79477798

-
intron-3CDSENST00000539724ENST00000575842CORO1Bchr11

67205622

-ACTG1chr17

79477798

-
intron-3CDSENST00000539724ENST00000575087CORO1Bchr11

67205622

-ACTG1chr17

79477798

-
intron-3CDSENST00000453768ENST00000331925CORO1Bchr11

67205622

-ACTG1chr17

79477798

-
intron-3CDSENST00000453768ENST00000573283CORO1Bchr11

67205622

-ACTG1chr17

79477798

-
intron-3CDSENST00000453768ENST00000575842CORO1Bchr11

67205622

-ACTG1chr17

79477798

-
intron-3CDSENST00000453768ENST00000575087CORO1Bchr11

67205622

-ACTG1chr17

79477798

-
intron-3CDSENST00000545016ENST00000331925CORO1Bchr11

67205622

-ACTG1chr17

79477798

-
intron-3CDSENST00000545016ENST00000573283CORO1Bchr11

67205622

-ACTG1chr17

79477798

-
intron-3CDSENST00000545016ENST00000575842CORO1Bchr11

67205622

-ACTG1chr17

79477798

-
intron-3CDSENST00000545016ENST00000575087CORO1Bchr11

67205622

-ACTG1chr17

79477798

-

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 CORO1B-ACTG1


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)

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 CORO1B-ACTG1


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

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.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}.

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 CORO1B-ACTG1


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 CORO1B-ACTG1


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 CORO1B-ACTG1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneACTG1P63261DB09130CopperSmall moleculeApproved|Investigational
TgeneACTG1P63261DB09130CopperSmall moleculeApproved|Investigational

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Related Diseases for CORO1B-ACTG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneACTG1C3711374Nonsyndromic Deafness18CLINGEN
TgeneACTG1C1858172Deafness, Autosomal Dominant 208CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneACTG1C3281235BARAITSER-WINTER SYNDROME 24CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneACTG1C0001787Osteoporosis, Age-Related1CTD_human
TgeneACTG1C0005745Blepharoptosis1GENOMICS_ENGLAND
TgeneACTG1C0007097Carcinoma1CTD_human
TgeneACTG1C0007621Neoplastic Cell Transformation1CTD_human
TgeneACTG1C0009363Congenital ocular coloboma (disorder)1CTD_human
TgeneACTG1C0014544Epilepsy1GENOMICS_ENGLAND
TgeneACTG1C0024433Macrostomia1GENOMICS_ENGLAND
TgeneACTG1C0024667Animal Mammary Neoplasms1CTD_human
TgeneACTG1C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneACTG1C0029456Osteoporosis1CTD_human
TgeneACTG1C0029459Osteoporosis, Senile1CTD_human
TgeneACTG1C0033377Ptosis1GENOMICS_ENGLAND
TgeneACTG1C0205696Anaplastic carcinoma1CTD_human
TgeneACTG1C0205697Carcinoma, Spindle-Cell1CTD_human
TgeneACTG1C0205698Undifferentiated carcinoma1CTD_human
TgeneACTG1C0205699Carcinomatosis1CTD_human
TgeneACTG1C0240583Short upturned nose1GENOMICS_ENGLAND
TgeneACTG1C0265541Cranioschisis1CTD_human
TgeneACTG1C0266551Congenital coloboma of iris1ORPHANET
TgeneACTG1C0376634Craniofacial Abnormalities1CTD_human
TgeneACTG1C0497552Congenital neurologic anomalies1CTD_human
TgeneACTG1C0751406Post-Traumatic Osteoporosis1CTD_human
TgeneACTG1C0857379Abnormality of the pinna1GENOMICS_ENGLAND
TgeneACTG1C0948089Acute Coronary Syndrome1CTD_human
TgeneACTG1C1257925Mammary Carcinoma, Animal1CTD_human
TgeneACTG1C1384666hearing impairment1GENOMICS_ENGLAND
TgeneACTG1C1843156Progressive sensorineural hearing impairment1GENOMICS_ENGLAND
TgeneACTG1C1844505Pointed chin1GENOMICS_ENGLAND
TgeneACTG1C1849340Long palpebral fissure1GENOMICS_ENGLAND
TgeneACTG1C1855722Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation1ORPHANET
TgeneACTG1C1865014Long philtrum1GENOMICS_ENGLAND
TgeneACTG1C1865017Thin upper lip vermilion1GENOMICS_ENGLAND
TgeneACTG1C1868571Highly arched eyebrow1GENOMICS_ENGLAND
TgeneACTG1C1970280Hearing loss begins with loss of high frequencies1GENOMICS_ENGLAND
TgeneACTG1C1970281Audiogram shows sloping configuration1GENOMICS_ENGLAND
TgeneACTG1C1970282Deafness, profound, by 6th decade1GENOMICS_ENGLAND
TgeneACTG1C3279369Microphthalmia (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C3549665Deafness (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C3808883Short neck (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4012410Enlarged ventricles (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4229649Heart defect (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4229650Pterygium colli (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4229651Hypertelorism/telecanthus1GENOMICS_ENGLAND
TgeneACTG1C4229652Eye coloboma (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4229653Trigonocephaly/metopic ridge1GENOMICS_ENGLAND
TgeneACTG1C4231117Pectus (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4231118Kyphosis/scoliosis (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4231120Prominent nasal root on profile1GENOMICS_ENGLAND
TgeneACTG1C4231121Large, squared nose tip1GENOMICS_ENGLAND
TgeneACTG1C4231123Retrognathia (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4231124Prominent/full/wide cheeks1GENOMICS_ENGLAND
TgeneACTG1C4554007Uveoretinal Coloboma1CTD_human
TgeneACTG1C4708599Coloboma of choroid and retina1ORPHANET