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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:ACTG1-CCNC (FusionGDB2 ID:HG71TG892) |
Fusion Gene Summary for ACTG1-CCNC |
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Fusion gene information | Fusion gene name: ACTG1-CCNC | Fusion gene ID: hg71tg892 | Hgene | Tgene | Gene symbol | ACTG1 | CCNC | Gene ID | 71 | 892 |
Gene name | actin gamma 1 | cyclin C | |
Synonyms | ACT|ACTG|DFNA20|DFNA26|HEL-176 | CycC|SRB11|hSRB11 | |
Cytomap | ('ACTG1')('CCNC') 17q25.3 | 6q16.2 | |
Type of gene | protein-coding | protein-coding | |
Description | actin, cytoplasmic 2cytoskeletal gamma-actinepididymis luminal protein 176 | cyclin-CSRB11 homolog | |
Modification date | 20200327 | 20200313 | |
UniProtAcc | P63261 | P24863 | |
Ensembl transtripts involved in fusion gene | ENST00000331925, ENST00000573283, ENST00000575087, ENST00000575842, | ||
Fusion gene scores | * DoF score | 51 X 36 X 13=23868 | 2 X 2 X 2=8 |
# samples | 58 | 2 | |
** MAII score | log2(58/23868*10)=-5.36288097153997 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: ACTG1 [Title/Abstract] AND CCNC [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ACTG1(79477712)-CCNC(100016527), # samples:2 | ||
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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | LUSC | TCGA-70-6723-01A | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
ChimerDB4 | LUSC | TCGA-70-6723 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
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Fusion Gene ORF analysis for ACTG1-CCNC |
![]() * 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 |
intron-5UTR | ENST00000331925 | ENST00000518714 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-5UTR | ENST00000331925 | ENST00000520371 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-5UTR | ENST00000331925 | ENST00000520429 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-5UTR | ENST00000331925 | ENST00000523985 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-5UTR | ENST00000573283 | ENST00000518714 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-5UTR | ENST00000573283 | ENST00000520371 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-5UTR | ENST00000573283 | ENST00000520429 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-5UTR | ENST00000573283 | ENST00000523985 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-5UTR | ENST00000575087 | ENST00000518714 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-5UTR | ENST00000575087 | ENST00000520371 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-5UTR | ENST00000575087 | ENST00000520429 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-5UTR | ENST00000575087 | ENST00000523985 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-5UTR | ENST00000575842 | ENST00000518714 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-5UTR | ENST00000575842 | ENST00000520371 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-5UTR | ENST00000575842 | ENST00000520429 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-5UTR | ENST00000575842 | ENST00000523985 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-intron | ENST00000331925 | ENST00000369220 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-intron | ENST00000331925 | ENST00000482541 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-intron | ENST00000331925 | ENST00000521017 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-intron | ENST00000331925 | ENST00000523799 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-intron | ENST00000573283 | ENST00000369220 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-intron | ENST00000573283 | ENST00000482541 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-intron | ENST00000573283 | ENST00000521017 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-intron | ENST00000573283 | ENST00000523799 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-intron | ENST00000575087 | ENST00000369220 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-intron | ENST00000575087 | ENST00000482541 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-intron | ENST00000575087 | ENST00000521017 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-intron | ENST00000575087 | ENST00000523799 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-intron | ENST00000575842 | ENST00000369220 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-intron | ENST00000575842 | ENST00000482541 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-intron | ENST00000575842 | ENST00000521017 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
intron-intron | ENST00000575842 | ENST00000523799 | ACTG1 | chr17 | 79477712 | - | CCNC | chr6 | 100016527 | - |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for ACTG1-CCNC |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for ACTG1-CCNC |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:79477712/:100016527) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
ACTG1 | CCNC |
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 Mediator complex, a coactivator involved in regulated gene transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Binds to and activates cyclin-dependent kinase CDK8 that phosphorylates the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAp II), which may inhibit the formation of a transcription initiation complex. {ECO:0000269|PubMed:16595664, ECO:0000269|PubMed:8700522}. |
![]() * 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 |
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Fusion Gene Sequence for ACTG1-CCNC |
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Fusion Gene PPI Analysis for ACTG1-CCNC |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for ACTG1-CCNC |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | ACTG1 | P63261 | DB09130 | Copper | Small molecule | Approved|Investigational | |
Hgene | ACTG1 | P63261 | DB09130 | Copper | Small molecule | Approved|Investigational |
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Related Diseases for ACTG1-CCNC |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ACTG1 | C3711374 | Nonsyndromic Deafness | 18 | CLINGEN |
Hgene | ACTG1 | C1858172 | Deafness, Autosomal Dominant 20 | 8 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | ACTG1 | C3281235 | BARAITSER-WINTER SYNDROME 2 | 4 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | ACTG1 | C0001787 | Osteoporosis, Age-Related | 1 | CTD_human |
Hgene | ACTG1 | C0005745 | Blepharoptosis | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C0007097 | Carcinoma | 1 | CTD_human |
Hgene | ACTG1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
Hgene | ACTG1 | C0009363 | Congenital ocular coloboma (disorder) | 1 | CTD_human |
Hgene | ACTG1 | C0014544 | Epilepsy | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C0024433 | Macrostomia | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Hgene | ACTG1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Hgene | ACTG1 | C0029456 | Osteoporosis | 1 | CTD_human |
Hgene | ACTG1 | C0029459 | Osteoporosis, Senile | 1 | CTD_human |
Hgene | ACTG1 | C0033377 | Ptosis | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C0205696 | Anaplastic carcinoma | 1 | CTD_human |
Hgene | ACTG1 | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human |
Hgene | ACTG1 | C0205698 | Undifferentiated carcinoma | 1 | CTD_human |
Hgene | ACTG1 | C0205699 | Carcinomatosis | 1 | CTD_human |
Hgene | ACTG1 | C0240583 | Short upturned nose | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C0265541 | Cranioschisis | 1 | CTD_human |
Hgene | ACTG1 | C0266551 | Congenital coloboma of iris | 1 | ORPHANET |
Hgene | ACTG1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Hgene | ACTG1 | C0497552 | Congenital neurologic anomalies | 1 | CTD_human |
Hgene | ACTG1 | C0751406 | Post-Traumatic Osteoporosis | 1 | CTD_human |
Hgene | ACTG1 | C0857379 | Abnormality of the pinna | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C0948089 | Acute Coronary Syndrome | 1 | CTD_human |
Hgene | ACTG1 | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human |
Hgene | ACTG1 | C1384666 | hearing impairment | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C1843156 | Progressive sensorineural hearing impairment | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C1844505 | Pointed chin | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C1849340 | Long palpebral fissure | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C1855722 | Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | 1 | ORPHANET |
Hgene | ACTG1 | C1865014 | Long philtrum | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C1865017 | Thin upper lip vermilion | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C1868571 | Highly arched eyebrow | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C1970280 | Hearing loss begins with loss of high frequencies | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C1970281 | Audiogram shows sloping configuration | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C1970282 | Deafness, profound, by 6th decade | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C3279369 | Microphthalmia (in some patients) | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C3549665 | Deafness (in some patients) | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C3808883 | Short neck (in some patients) | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4012410 | Enlarged ventricles (in some patients) | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4229649 | Heart defect (in some patients) | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4229650 | Pterygium colli (in some patients) | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4229651 | Hypertelorism/telecanthus | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4229652 | Eye coloboma (in some patients) | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4229653 | Trigonocephaly/metopic ridge | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4231117 | Pectus (in some patients) | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4231118 | Kyphosis/scoliosis (in some patients) | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4231120 | Prominent nasal root on profile | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4231121 | Large, squared nose tip | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4231123 | Retrognathia (in some patients) | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4231124 | Prominent/full/wide cheeks | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4554007 | Uveoretinal Coloboma | 1 | CTD_human |
Hgene | ACTG1 | C4708599 | Coloboma of choroid and retina | 1 | ORPHANET |