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Fusion gene ID: 5476 |
FusionGeneSummary for CAPNS1_GLUL |
Fusion gene summary |
Fusion gene information | Fusion gene name: CAPNS1_GLUL | Fusion gene ID: 5476 | Hgene | Tgene | Gene symbol | CAPNS1 | GLUL | Gene ID | 826 | 2752 |
Gene name | calpain small subunit 1 | glutamate-ammonia ligase | |
Synonyms | CALPAIN4|CANP|CANPS|CAPN4|CDPS|CSS1 | GLNS|GS|PIG43|PIG59 | |
Cytomap | 19q13.12 | 1q25.3 | |
Type of gene | protein-coding | protein-coding | |
Description | calpain small subunit 1CANP small subunitcalcium-activated neutral proteinase small subunitcalcium-dependent protease small subunit 1calcium-dependent protease, small subunitcalpain 4, small subunit (30K)calpain regulatory subunitcalpain, small pol | glutamine synthetasecell proliferation-inducing protein 59glutamate decarboxylaseglutamine synthaseproliferation-inducing protein 43 | |
Modification date | 20180522 | 20180522 | |
UniProtAcc | P04632 | P15104 | |
Ensembl transtripts involved in fusion gene | ENST00000246533, ENST00000589146, ENST00000587718, ENST00000590874, ENST00000588815, ENST00000588780, | ENST00000331872, ENST00000417584, ENST00000311223, ENST00000491322, ENST00000339526, | |
Fusion gene scores | * DoF score | 13 X 12 X 5=780 | 14 X 15 X 5=1050 |
# samples | 14 | 17 | |
** MAII score | log2(14/780*10)=-2.47804729680464 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(17/1050*10)=-2.62678267641578 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CAPNS1 [Title/Abstract] AND GLUL [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 |
Tgene | GLUL | GO:0008283 | cell proliferation | 18662667 |
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 |
TCGA | LD | BRCA | TCGA-AR-A0U3-01A | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
* 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 | ENST00000246533 | ENST00000331872 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
Frame-shift | ENST00000246533 | ENST00000417584 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
Frame-shift | ENST00000246533 | ENST00000311223 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
5CDS-5UTR | ENST00000246533 | ENST00000491322 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
5CDS-5UTR | ENST00000246533 | ENST00000339526 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
intron-3CDS | ENST00000589146 | ENST00000331872 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
intron-3CDS | ENST00000589146 | ENST00000417584 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
intron-3CDS | ENST00000589146 | ENST00000311223 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
intron-5UTR | ENST00000589146 | ENST00000491322 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
intron-5UTR | ENST00000589146 | ENST00000339526 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
Frame-shift | ENST00000587718 | ENST00000331872 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
Frame-shift | ENST00000587718 | ENST00000417584 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
Frame-shift | ENST00000587718 | ENST00000311223 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
5CDS-5UTR | ENST00000587718 | ENST00000491322 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
5CDS-5UTR | ENST00000587718 | ENST00000339526 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
Frame-shift | ENST00000590874 | ENST00000331872 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
Frame-shift | ENST00000590874 | ENST00000417584 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
Frame-shift | ENST00000590874 | ENST00000311223 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
5CDS-5UTR | ENST00000590874 | ENST00000491322 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
5CDS-5UTR | ENST00000590874 | ENST00000339526 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
Frame-shift | ENST00000588815 | ENST00000331872 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
Frame-shift | ENST00000588815 | ENST00000417584 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
Frame-shift | ENST00000588815 | ENST00000311223 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
5CDS-5UTR | ENST00000588815 | ENST00000491322 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
5CDS-5UTR | ENST00000588815 | ENST00000339526 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
Frame-shift | ENST00000588780 | ENST00000331872 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
Frame-shift | ENST00000588780 | ENST00000417584 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
Frame-shift | ENST00000588780 | ENST00000311223 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
5CDS-5UTR | ENST00000588780 | ENST00000491322 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
5CDS-5UTR | ENST00000588780 | ENST00000339526 | CAPNS1 | chr19 | 36633235 | + | GLUL | chr1 | 182355537 | - |
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FusionProtFeatures for CAPNS1_GLUL |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CAPNS1 | GLUL |
Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis ofsubstrates involved in cytoskeletal remodeling and signaltransduction. | This enzyme has 2 functions: it catalyzes the productionof glutamine and 4-aminobutanoate (gamma-aminobutyric acid, GABA),the latter in a pyridoxal phosphate-independent manner (Bysimilarity). Essential for proliferation of fetal skinfibroblasts. {ECO:0000250, ECO:0000269|PubMed:18662667}. |
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 CAPNS1_GLUL |
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 CAPNS1_GLUL |
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 |
CAPNS1 | ARR3, ATP5J2, DRG1, RAB1A, TERF1, GET4, GNB2, CDK4, CAPN2, IL2RG, RUVBL1, MEPCE, POU5F1, CSPG4, FN1, VCAM1, ITGA4, ADRB2, TRAF5, STAT3, PPARGC1A, ALDH7A1, APEX1, ASNS, EIF5, FERMT2, GAPDH, GNAI3, STK26, MYO1E, OGFOD1, PTMA, TBCB, DCPS, ISOC1, MAT2A, MAT2B, PAFAH1B1, PAK2, PDIA4, PPP1CA, PROSC, YWHAE, YWHAG, YWHAH, YWHAQ, YWHAZ, CDC20, NEDD1, TUBGCP2, TUBGCP3, HUWE1, AGTRAP, USP1, KNG1, FNTB, TNF, CAPNS2, CAPN1, DUSP19, C8orf37 | GLUL | PLEKHF2, GLUL, NUDT18, ND5, UBE2I, PIAS1, PIAS2, CASP8AP2, HIPK3, PIAS3, HIPK1, UBC, PPARD, RBBP6, SKIL, RABEPK, NFKB1, CYP39A1, FAM129B, ZFAND2B, NME7, DMXL2, TCHP, UBAP2, ASPSCR1, MCM2, HSD17B10, ZNRF1, CRBN, EP300, EGFR, C1orf94, TBC1D22B, TRIM25 |
- 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 CAPNS1_GLUL |
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 |
Tgene | GLUL | P15104 | DB00130 | L-Glutamine | Glutamine synthetase | small molecule | approved|investigational|nutraceutical |
Tgene | GLUL | P15104 | DB00142 | Glutamic Acid | Glutamine synthetase | small molecule | approved|nutraceutical |
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RelatedDiseases for CAPNS1_GLUL |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CAPNS1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | GLUL | C0036341 | Schizophrenia | 4 | PSYGENET |
Tgene | GLUL | C0001973 | Alcoholic Intoxication, Chronic | 2 | PSYGENET |
Tgene | GLUL | C0023904 | Liver Neoplasms, Experimental | 2 | CTD_human |
Tgene | GLUL | C0011570 | Mental Depression | 1 | PSYGENET |
Tgene | GLUL | C0011581 | Depressive disorder | 1 | PSYGENET |
Tgene | GLUL | C0019151 | Hepatic Encephalopathy | 1 | CTD_human |
Tgene | GLUL | C0028754 | Obesity | 1 | CTD_human |
Tgene | GLUL | C0033975 | Psychotic Disorders | 1 | PSYGENET |
Tgene | GLUL | C0236663 | Alcohol withdrawal syndrome | 1 | PSYGENET |
Tgene | GLUL | C0525045 | Mood Disorders | 1 | PSYGENET |
Tgene | GLUL | C0752109 | Brain Diseases, Metabolic, Inborn | 1 | CTD_human |
Tgene | GLUL | C1864910 | Glutamine deficiency, congenital | 1 | CTD_human;ORPHANET;UNIPROT |
Tgene | GLUL | C2239176 | Liver carcinoma | 1 | CTD_human |