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Fusion gene ID: 12616 |
FusionGeneSummary for FAM162A_CSTA |
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Fusion gene information | Fusion gene name: FAM162A_CSTA | Fusion gene ID: 12616 | Hgene | Tgene | Gene symbol | FAM162A | CSTA | Gene ID | 26355 | 1475 |
Gene name | family with sequence similarity 162 member A | cystatin A | |
Synonyms | C3orf28|E2IG5|HGTD-P | AREI|PSS4|STF1|STFA | |
Cytomap | 3q21.1 | 3q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | protein FAM162AE2-induced gene 5 proteinHIF-1 alpha-responsive proapoptotic moleculegrowth and transformation-dependent protein | cystatin-Acystatin A (stefin A)cystatin AS | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q96A26 | P01040 | |
Ensembl transtripts involved in fusion gene | ENST00000232125, ENST00000477892, ENST00000469967, | ENST00000264474, ENST00000479204, | |
Fusion gene scores | * DoF score | 3 X 2 X 5=30 | 7 X 6 X 4=168 |
# samples | 5 | 7 | |
** MAII score | log2(5/30*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: FAM162A [Title/Abstract] AND CSTA [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | FAM162A | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 15082785 |
Hgene | FAM162A | GO:0043065 | positive regulation of apoptotic process | 15082785 |
Hgene | FAM162A | GO:0071456 | cellular response to hypoxia | 15082785 |
Hgene | FAM162A | GO:0090200 | positive regulation of release of cytochrome c from mitochondria | 15082785 |
Tgene | CSTA | GO:0010466 | negative regulation of peptidase activity | 6203523 |
Tgene | CSTA | GO:0018149 | peptide cross-linking | 10908733 |
Tgene | CSTA | GO:0030216 | keratinocyte differentiation | 10908733 |
Tgene | CSTA | GO:0045861 | negative regulation of proteolysis | 3488317 |
![]() (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 | RV | PRAD | TCGA-G9-A9S4-01A | FAM162A | chr3 | 122103146 | + | CSTA | chr3 | 122044109 | + |
* 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-5UTR | ENST00000232125 | ENST00000264474 | FAM162A | chr3 | 122103146 | + | CSTA | chr3 | 122044109 | + |
5UTR-5UTR | ENST00000232125 | ENST00000479204 | FAM162A | chr3 | 122103146 | + | CSTA | chr3 | 122044109 | + |
5CDS-5UTR | ENST00000477892 | ENST00000264474 | FAM162A | chr3 | 122103146 | + | CSTA | chr3 | 122044109 | + |
5CDS-5UTR | ENST00000477892 | ENST00000479204 | FAM162A | chr3 | 122103146 | + | CSTA | chr3 | 122044109 | + |
5CDS-5UTR | ENST00000469967 | ENST00000264474 | FAM162A | chr3 | 122103146 | + | CSTA | chr3 | 122044109 | + |
5CDS-5UTR | ENST00000469967 | ENST00000479204 | FAM162A | chr3 | 122103146 | + | CSTA | chr3 | 122044109 | + |
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FusionProtFeatures for FAM162A_CSTA |
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Hgene | Tgene |
FAM162A | CSTA |
Proposed to be involved in regulation of apoptosis; theexact mechanism may differ between cell types/tissues. May beinvolved in hypoxia-induced cell death of transformed cellsimplicating cytochrome C release and caspase activation (such asCASP9) and inducing mitochondrial permeability transition. May beinvolved in hypoxia-induced cell death of neuronal cells probablyby promoting release of AIFM1 from mitochondria to cytoplasm andits translocation to the nucleus; however, the involvement ofcaspases has been reported conflictingly.{ECO:0000269|PubMed:15082785}. | This is an intracellular thiol proteinase inhibitor. Hasan important role in desmosome-mediated cell-cell adhesion in thelower levels of the epidermis. {ECO:0000269|PubMed:21944047}. |
![]() * 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 FAM162A_CSTA |
![]() (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 FAM162A_CSTA |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
FAM162A | SRRT, SLC25A1, PTRF, VDAC2, MRPL22, RMDN3, TM9SF4, TIMM23B, SSR3, HACL1, IWS1, UBL4A, HSP90AA1, ADRB2, BSG, SIAE, CPVL, NDUFA4, ASPH, GHITM, CTNNA3, PCDHA12 | CSTA | CTSB, CTSL, CTSH, PI3, KRT1, LOR, DSP, IVL, CSTA, USP53, UCHL5, RAD21, TCF3, CUL4B, CUL2, CDK2, METTL23, CEP57, ZDHHC17, TCTN3, RASSF9, RASSF10, HERC2, FOXR1, MCM2, EGFR, ZIC1, CYLD |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for FAM162A_CSTA |
![]() (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 FAM162A_CSTA |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | CSTA | C0017636 | Glioblastoma | 1 | CTD_human |
Tgene | CSTA | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Tgene | CSTA | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human |