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Fusion gene ID: 5307 |
FusionGeneSummary for CALM1_RALA |
Fusion gene summary |
Fusion gene information | Fusion gene name: CALM1_RALA | Fusion gene ID: 5307 | Hgene | Tgene | Gene symbol | CALM1 | RALA | Gene ID | 801 | 5898 |
Gene name | calmodulin 1 | RAS like proto-oncogene A | |
Synonyms | CALML2|CAMI|CPVT4|DD132|LQT14|PHKD|caM | RAL | |
Cytomap | 14q32.11 | 7p14.1 | |
Type of gene | protein-coding | protein-coding | |
Description | calmodulin-1calmodulin 1 (phosphorylase kinase, delta)phosphorylase kinase subunit deltaphosphorylase kinase, delta subunitprepro-calmodulin 1 | ras-related protein Ral-ARALA Ras like proto-oncogene ARAS-like protein ARas family small GTP binding protein RALAras related GTP binding protein Av-ral simian leukemia viral oncogene homolog A (ras related) | |
Modification date | 20180529 | 20180519 | |
UniProtAcc | P11233 | ||
Ensembl transtripts involved in fusion gene | ENST00000356978, ENST00000447653, ENST00000555132, ENST00000553542, ENST00000544280, | ENST00000005257, ENST00000468201, | |
Fusion gene scores | * DoF score | 10 X 10 X 2=200 | 4 X 3 X 4=48 |
# samples | 21 | 4 | |
** MAII score | log2(21/200*10)=0.070389327891398 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CALM1 [Title/Abstract] AND RALA [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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CALM1 | GO:0010880 | regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum | 20226167 |
Hgene | CALM1 | GO:0030801 | positive regulation of cyclic nucleotide metabolic process | 8631777 |
Hgene | CALM1 | GO:0032516 | positive regulation of phosphoprotein phosphatase activity | 8631777 |
Hgene | CALM1 | GO:0035307 | positive regulation of protein dephosphorylation | 8631777 |
Hgene | CALM1 | GO:0051343 | positive regulation of cyclic-nucleotide phosphodiesterase activity | 8631777 |
Hgene | CALM1 | GO:0051592 | response to calcium ion | 7607248 |
Hgene | CALM1 | GO:0060314 | regulation of ryanodine-sensitive calcium-release channel activity | 22067155 |
Hgene | CALM1 | GO:0060315 | negative regulation of ryanodine-sensitive calcium-release channel activity | 26164367 |
Hgene | CALM1 | GO:0060316 | positive regulation of ryanodine-sensitive calcium-release channel activity | 20226167 |
Tgene | RALA | GO:0017157 | regulation of exocytosis | 20005108 |
Tgene | RALA | GO:0031532 | actin cytoskeleton reorganization | 10051605 |
Tgene | RALA | GO:0051491 | positive regulation of filopodium assembly | 10051605 |
Tgene | RALA | GO:0051665 | membrane raft localization | 20005108 |
Fusion gene information from three resources (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 | CD366766 | CALM1 | chr14 | 90870820 | - | RALA | chr7 | 39745749 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000356978 | ENST00000005257 | CALM1 | chr14 | 90870820 | - | RALA | chr7 | 39745749 | - |
5CDS-3UTR | ENST00000356978 | ENST00000468201 | CALM1 | chr14 | 90870820 | - | RALA | chr7 | 39745749 | - |
Frame-shift | ENST00000447653 | ENST00000005257 | CALM1 | chr14 | 90870820 | - | RALA | chr7 | 39745749 | - |
5CDS-3UTR | ENST00000447653 | ENST00000468201 | CALM1 | chr14 | 90870820 | - | RALA | chr7 | 39745749 | - |
intron-3CDS | ENST00000555132 | ENST00000005257 | CALM1 | chr14 | 90870820 | - | RALA | chr7 | 39745749 | - |
intron-3UTR | ENST00000555132 | ENST00000468201 | CALM1 | chr14 | 90870820 | - | RALA | chr7 | 39745749 | - |
Frame-shift | ENST00000553542 | ENST00000005257 | CALM1 | chr14 | 90870820 | - | RALA | chr7 | 39745749 | - |
5CDS-3UTR | ENST00000553542 | ENST00000468201 | CALM1 | chr14 | 90870820 | - | RALA | chr7 | 39745749 | - |
Frame-shift | ENST00000544280 | ENST00000005257 | CALM1 | chr14 | 90870820 | - | RALA | chr7 | 39745749 | - |
5CDS-3UTR | ENST00000544280 | ENST00000468201 | CALM1 | chr14 | 90870820 | - | RALA | chr7 | 39745749 | - |
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FusionProtFeatures for CALM1_RALA |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CALM1 | RALA |
Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. | Multifunctional GTPase involved in a variety of cellularprocesses including gene expression, cell migration, cellproliferation, oncogenic transformation and membrane trafficking.Accomplishes its multiple functions by interacting with distinctdownstream effectors. Acts as a GTP sensor for GTP-dependentexocytosis of dense core vesicles. The RALA-exocyst complexregulates integrin-dependent membrane raft exocytosis and growthsignaling (PubMed:20005108). Key regulator of LPAR1 signaling andcompetes with GRK2 for binding to LPAR1 thus affecting thesignaling properties of the receptor. Required for anchorage-independent proliferation of transformed cells (PubMed:19306925).During mitosis, supports the stabilization and elongation of theintracellular bridge between dividing cells. Cooperates with EXOC2to recruit other components of the exocyst to the early midbody(PubMed:18756269). {ECO:0000269|PubMed:18756269,ECO:0000269|PubMed:19306925, ECO:0000269|PubMed:20005108}. |
Retention 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 . * 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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FusionGeneSequence for CALM1_RALA |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for CALM1_RALA |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CALM1_RALA |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CALM1_RALA |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CALM1 | C3554047 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 | 2 | UNIPROT |
Hgene | CALM1 | C4015671 | LONG QT SYNDROME 14 | 2 | UNIPROT |
Hgene | CALM1 | C4015695 | LONG QT SYNDROME 15 | 2 | UNIPROT |
Hgene | CALM1 | C0002395 | Alzheimer's Disease | 1 | CTD_human |
Hgene | CALM1 | C0024809 | Marijuana Abuse | 1 | CTD_human |
Hgene | CALM1 | C0031391 | Phencyclidine Abuse | 1 | CTD_human |
Hgene | CALM1 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | CALM1 | C0043094 | Weight Gain | 1 | CTD_human |
Hgene | CALM1 | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |