Fusion gene information | Fusion gene name: CLTC-CLTC |
Fusion gene ID: hg1213tg1213 | | Hgene | Tgene | Gene symbol | CLTC | CLTC | Gene ID | 1213 | 1213 | Gene name | clathrin heavy chain | clathrin heavy chain |
Synonyms | CHC|CHC17|CLH-17|CLTCL2|Hc|MRD56 | CHC|CHC17|CLH-17|CLTCL2|Hc|MRD56 |
Cytomap | ('CLTC')('CLTC') 17q23.1 | 17q23.1 |
Type of gene | protein-coding | protein-coding |
Description | clathrin heavy chain 1clathrin heavy chain on chromosome 17clathrin, heavy polypeptide (Hc)clathrin, heavy polypeptide-like 2 | clathrin heavy chain 1clathrin heavy chain on chromosome 17clathrin, heavy polypeptide (Hc)clathrin, heavy polypeptide-like 2 |
Modification date | 20200313 | 20200313 |
UniProtAcc | Q00610 | Q00610 |
Ensembl transtripts involved in fusion gene | ENST00000269122, ENST00000393043, ENST00000579456, ENST00000579815,
| ENST00000269122, ENST00000393043, ENST00000579456, ENST00000579815,
|
Fusion gene scores | * DoF score | 27 X 40 X 17=18360 | 18 X 18 X 8=2592 |
# samples | 84 | 22 |
** MAII score | log2(84/18360*10)=-4.45003292063505 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(22/2592*10)=-3.55849028935997 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: CLTC [Title/Abstract] AND CLTC [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | CLTC(57771931)-CLTC(57771969), # samples:1
|
Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
CLTC
Q00610 | CLTC
Q00610 |
FUNCTION: Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge (PubMed:15858577, PubMed:16968737, PubMed:21297582). The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:23532825). Plays a role in early autophagosome formation (PubMed:20639872). {ECO:0000269|PubMed:15858577, ECO:0000269|PubMed:16968737, ECO:0000269|PubMed:20639872, ECO:0000269|PubMed:21297582, ECO:0000269|PubMed:23532825}. | FUNCTION: Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge (PubMed:15858577, PubMed:16968737, PubMed:21297582). The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:23532825). Plays a role in early autophagosome formation (PubMed:20639872). {ECO:0000269|PubMed:15858577, ECO:0000269|PubMed:16968737, ECO:0000269|PubMed:20639872, ECO:0000269|PubMed:21297582, ECO:0000269|PubMed:23532825}. |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CLTC | C4518356 | MiT family translocation renal cell carcinoma | 2 | ORPHANET |
Hgene | CLTC | C4693389 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 | 2 | GENOMICS_ENGLAND;UNIPROT |
Hgene | CLTC | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
Hgene | CLTC | C0334121 | Inflammatory Myofibroblastic Tumor | 1 | ORPHANET |
Tgene | | C4518356 | MiT family translocation renal cell carcinoma | 2 | ORPHANET |
Tgene | | C4693389 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 | 2 | GENOMICS_ENGLAND;UNIPROT |
Tgene | | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
Tgene | | C0334121 | Inflammatory Myofibroblastic Tumor | 1 | ORPHANET |