![]() |
||||||
|
![]() | 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:CLIC5-CEP63 (FusionGDB2 ID:HG53405TG80254) |
Fusion Gene Summary for CLIC5-CEP63 |
![]() |
Fusion gene information | Fusion gene name: CLIC5-CEP63 | Fusion gene ID: hg53405tg80254 | Hgene | Tgene | Gene symbol | CLIC5 | CEP63 | Gene ID | 53405 | 80254 |
Gene name | chloride intracellular channel 5 | centrosomal protein 63 | |
Synonyms | DFNB102|DFNB103|MST130|MSTP130 | SCKL6 | |
Cytomap | ('CLIC5')('CEP63') 6p21.1 | 3q22.2 | |
Type of gene | protein-coding | protein-coding | |
Description | chloride intracellular channel protein 5 | centrosomal protein of 63 kDacentrosomal protein 63kDacentrosome protein CEP63 | |
Modification date | 20200313 | 20200328 | |
UniProtAcc | Q9NZA1 | Q96MT8 | |
Ensembl transtripts involved in fusion gene | ENST00000185206, ENST00000339561, ENST00000486570, ENST00000544153, | ||
Fusion gene scores | * DoF score | 6 X 7 X 2=84 | 6 X 7 X 3=126 |
# samples | 7 | 7 | |
** MAII score | log2(7/84*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/126*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CLIC5 [Title/Abstract] AND CEP63 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CLIC5(45929750)-CEP63(134279630), # 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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CLIC5 | GO:0006821 | chloride transport | 10793131 |
![]() * 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 |
Top |
Fusion Gene ORF analysis for CLIC5-CEP63 |
![]() * 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 |
![]() |
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) |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
Top |
Fusion Genomic Features for CLIC5-CEP63 |
![]() |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
Top |
Fusion Protein Features for CLIC5-CEP63 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:45929750/:134279630) - 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. |
![]() |
![]() |
Hgene | Tgene |
CLIC5 | CEP63 |
FUNCTION: Required for normal hearing (PubMed:24781754). It is necessary for the formation of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a role in the regulation of transepithelial ion absorption and secretion. Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture (PubMed:15184393, PubMed:18028448, PubMed:20335315). Plays a role in formation of the lens suture in the eye, which is important for normal optical properties of the lens (By similarity). {ECO:0000250|UniProtKB:Q8BXK9, ECO:0000269|PubMed:15184393, ECO:0000269|PubMed:18028448, ECO:0000269|PubMed:20335315, ECO:0000269|PubMed:24781754}. | FUNCTION: Required for normal spindle assembly. Plays a key role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication. Reported to be required for centrosomal recruitment of CEP152; however, this function has been questioned (PubMed:21983783, PubMed:26297806). Also recruits CDK1 to centrosomes (PubMed:21406398). Plays a role in DNA damage response. Following DNA damage, such as double-strand breaks (DSBs), is removed from centrosomes; this leads to the inactivation of spindle assembly and delay in mitotic progression (PubMed:21406398). {ECO:0000269|PubMed:21406398, ECO:0000269|PubMed:21983783, ECO:0000269|PubMed:26297806}. |
![]() * 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 |
Top |
Fusion Gene Sequence for CLIC5-CEP63 |
![]() |
Top |
Fusion Gene PPI Analysis for CLIC5-CEP63 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for CLIC5-CEP63 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
Related Diseases for CLIC5-CEP63 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CLIC5 | C1846647 | DEAFNESS, AUTOSOMAL RECESSIVE (disorder) | 3 | CLINGEN |
Hgene | CLIC5 | C4015050 | DEAFNESS, AUTOSOMAL RECESSIVE 103 | 1 | CTD_human;GENOMICS_ENGLAND |
Tgene | C3553582 | SECKEL SYNDROME 6 | 3 | GENOMICS_ENGLAND | |
Tgene | C0025958 | Microcephaly | 2 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C0431350 | Primary microcephaly | 1 | GENOMICS_ENGLAND | |
Tgene | C0920296 | Developmental reading disorder | 1 | GENOMICS_ENGLAND | |
Tgene | C1956147 | Microlissencephaly | 1 | CTD_human | |
Tgene | C3853041 | Severe Congenital Microcephaly | 1 | CTD_human |