![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 7291 |
FusionGeneSummary for CKM_MYOZ2 |
![]() |
Fusion gene information | Fusion gene name: CKM_MYOZ2 | Fusion gene ID: 7291 | Hgene | Tgene | Gene symbol | CKM | MYOZ2 | Gene ID | 1158 | 51778 |
Gene name | creatine kinase, M-type | myozenin 2 | |
Synonyms | CKMM|CPK-M|M-CK | C4orf5|CMH16|CS-1|FATZ-2 | |
Cytomap | 19q13.32 | 4q26 | |
Type of gene | protein-coding | protein-coding | |
Description | creatine kinase M-typecreatine kinase M chaincreatine kinase, musclecreatine phosphokinase M-type | myozenin-2FATZ-related protein 2calcineurin-binding protein calsarcin-1muscle-specific protein | |
Modification date | 20180527 | 20180523 | |
UniProtAcc | P06732 | Q9NPC6 | |
Ensembl transtripts involved in fusion gene | ENST00000221476, | ENST00000307128, | |
Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 3 X 3 X 3=27 |
# samples | 4 | 4 | |
** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/27*10)=0.567040592723894 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: CKM [Title/Abstract] AND MYOZ2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* 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 |
![]() (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BF693845 | CKM | chr19 | 45826079 | - | MYOZ2 | chr4 | 120079264 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
5UTR-3CDS | ENST00000221476 | ENST00000307128 | CKM | chr19 | 45826079 | - | MYOZ2 | chr4 | 120079264 | + |
Top |
FusionProtFeatures for CKM_MYOZ2 |
![]() |
Hgene | Tgene |
CKM | MYOZ2 |
Reversibly catalyzes the transfer of phosphate betweenATP and various phosphogens (e.g. creatine phosphate). Creatinekinase isoenzymes play a central role in energy transduction intissues with large, fluctuating energy demands, such as skeletalmuscle, heart, brain and spermatozoa. | Myozenins may serve as intracellular binding proteinsinvolved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurinsignaling to the sarcomere. Plays an important role in themodulation of calcineurin signaling. May play a role inmyofibrillogenesis. |
![]() * 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 |
FusionGeneSequence for CKM_MYOZ2 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for CKM_MYOZ2 |
![]() |
![]() |
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 |
RelatedDrugs for CKM_MYOZ2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for CKM_MYOZ2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CKM | C0027051 | Myocardial Infarction | 2 | CTD_human |
Hgene | CKM | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Hgene | CKM | C0022116 | Ischemia | 1 | CTD_human |
Hgene | CKM | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
Hgene | CKM | C0948089 | Acute Coronary Syndrome | 1 | CTD_human |
Tgene | MYOZ2 | C3151204 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 | 1 | UNIPROT |