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Fusion Protein:CASC3-NFE2L1 |
Fusion Gene and Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: CASC3-NFE2L1 | FusionPDB ID: 13154 | FusionGDB2.0 ID: 13154 | Hgene | Tgene | Gene symbol | CASC3 | NFE2L1 | Gene ID | 22794 | 4779 |
Gene name | CASC3 exon junction complex subunit | nuclear factor, erythroid 2 like 1 | |
Synonyms | BTZ|MLN51 | LCR-F1|NRF1|TCF11 | |
Cytomap | 17q21.1 | 17q21.32 | |
Type of gene | protein-coding | protein-coding | |
Description | protein CASC3MLN 51barentszcancer susceptibility 3cancer susceptibility candidate 3cancer susceptibility candidate gene 3 proteinmetastatic lymph node 51metastatic lymph node gene 51 proteinprotein barentsz | endoplasmic reticulum membrane sensor NFE2L1NF-E2-related factor 1NFE2-related factor 1TCF-11locus control region-factor 1nuclear factor erythroid 2-related factor 1nuclear factor, erythroid derived 2, like 1protein NRF1, p120 formtranscription fa | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | O15234 Main function of 5'-partner protein: FUNCTION: Required for pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:29301961). Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). Stimulates the ATPase and RNA-helicase activities of EIF4A3. Plays a role in the stress response by participating in cytoplasmic stress granules assembly and by favoring cell recovery following stress. Component of the dendritic ribonucleoprotein particles (RNPs) in hippocampal neurons. May play a role in mRNA transport. Binds spliced mRNA in sequence-independent manner, 20-24 nucleotides upstream of mRNA exon-exon junctions. Binds poly(G) and poly(U) RNA homopolymer. {ECO:0000269|PubMed:17375189, ECO:0000269|PubMed:17652158, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:29301961}. | Q14494 Main function of 5'-partner protein: FUNCTION: [Endoplasmic reticulum membrane sensor NFE2L1]: Endoplasmic reticulum membrane sensor that translocates into the nucleus in response to various stresses to act as a transcription factor (PubMed:20932482, PubMed:24448410). Constitutes a precursor of the transcription factor NRF1 (By similarity). Able to detect various cellular stresses, such as cholesterol excess, oxidative stress or proteasome inhibition (PubMed:20932482). In response to stress, it is released from the endoplasmic reticulum membrane following cleavage by the protease DDI2 and translocates into the nucleus to form the transcription factor NRF1 (By similarity). Acts as a key sensor of cholesterol excess: in excess cholesterol conditions, the endoplasmic reticulum membrane form of the protein directly binds cholesterol via its CRAC motif, preventing cleavage and release of the transcription factor NRF1, thereby allowing expression of genes promoting cholesterol removal, such as CD36 (By similarity). Involved in proteasome homeostasis: in response to proteasome inhibition, it is released from the endoplasmic reticulum membrane, translocates to the nucleus and activates expression of genes encoding proteasome subunits (PubMed:20932482). {ECO:0000250|UniProtKB:Q61985, ECO:0000269|PubMed:20932482, ECO:0000269|PubMed:24448410}.; FUNCTION: [Transcription factor NRF1]: CNC-type bZIP family transcription factor that translocates to the nucleus and regulates expression of target genes in response to various stresses (PubMed:8932385, PubMed:9421508). Heterodimerizes with small-Maf proteins (MAFF, MAFG or MAFK) and binds DNA motifs including the antioxidant response elements (AREs), which regulate expression of genes involved in oxidative stress response (PubMed:8932385, PubMed:9421508). Activates or represses expression of target genes, depending on the context (PubMed:8932385, PubMed:9421508). Plays a key role in cholesterol homeostasis by acting as a sensor of cholesterol excess: in low cholesterol conditions, translocates into the nucleus and represses expression of genes involved in defense against cholesterol excess, such as CD36 (By similarity). In excess cholesterol conditions, the endoplasmic reticulum membrane form of the protein directly binds cholesterol via its CRAC motif, preventing cleavage and release of the transcription factor NRF1, thereby allowing expression of genes promoting cholesterol removal (By similarity). Critical for redox balance in response to oxidative stress: acts by binding the AREs motifs on promoters and mediating activation of oxidative stress response genes, such as GCLC, GCLM, GSS, MT1 and MT2 (By similarity). Plays an essential role during fetal liver hematopoiesis: probably has a protective function against oxidative stress and is involved in lipid homeostasis in the liver (By similarity). Involved in proteasome homeostasis: in response to proteasome inhibition, mediates the 'bounce-back' of proteasome subunits by translocating into the nucleus and activating expression of genes encoding proteasome subunits (PubMed:20932482). Also involved in regulating glucose flux (By similarity). Together with CEBPB; represses expression of DSPP during odontoblast differentiation (PubMed:15308669). In response to ascorbic acid induction, activates expression of SP7/Osterix in osteoblasts. {ECO:0000250|UniProtKB:Q61985, ECO:0000269|PubMed:15308669, ECO:0000269|PubMed:20932482, ECO:0000269|PubMed:8932385, ECO:0000269|PubMed:9421508}. | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000264645, | ENST00000361665, ENST00000536222, ENST00000579481, ENST00000582155, ENST00000583378, ENST00000357480, ENST00000362042, ENST00000585291, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 21 X 10 X 10=2100 | 11 X 9 X 5=495 |
# samples | 28 | 11 | |
** MAII score | log2(28/2100*10)=-2.90689059560852 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/495*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Fusion gene context | PubMed: CASC3 [Title/Abstract] AND NFE2L1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Fusion neoantigen context | PubMed: CASC3 [Title/Abstract] AND NFE2L1 [Title/Abstract] AND neoantigen [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | CASC3(38325699)-NFE2L1(46133747), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | CASC3-NFE2L1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CASC3-NFE2L1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CASC3-NFE2L1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. CASC3-NFE2L1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* 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 | CASC3 | GO:0000398 | mRNA splicing, via spliceosome | 29301961 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:38325699/chr17:46133747) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Amino Acid Sequences |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000264645 | CASC3 | chr17 | 38325699 | + | ENST00000362042 | NFE2L1 | chr17 | 46133747 | + | 5962 | 2314 | 172 | 4122 | 1316 |
ENST00000264645 | CASC3 | chr17 | 38325699 | + | ENST00000585291 | NFE2L1 | chr17 | 46133747 | + | 5879 | 2314 | 172 | 4032 | 1286 |
ENST00000264645 | CASC3 | chr17 | 38325699 | + | ENST00000357480 | NFE2L1 | chr17 | 46133747 | + | 5871 | 2314 | 172 | 4032 | 1286 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000264645 | ENST00000362042 | CASC3 | chr17 | 38325699 | + | NFE2L1 | chr17 | 46133747 | + | 0.001436599 | 0.99856347 |
ENST00000264645 | ENST00000585291 | CASC3 | chr17 | 38325699 | + | NFE2L1 | chr17 | 46133747 | + | 0.001407767 | 0.9985922 |
ENST00000264645 | ENST00000357480 | CASC3 | chr17 | 38325699 | + | NFE2L1 | chr17 | 46133747 | + | 0.00142782 | 0.9985721 |
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Get the fusion protein sequences from here. |
Fusion protein sequence information is available in the fasta format. >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP |
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Fusion Protein Breakpoint Sequences for CASC3-NFE2L1 |
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Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Length(fusion protein) | BP in fusion protein | Peptide |
CASC3 | chr17 | 38325699 | NFE2L1 | chr17 | 46133747 | 2314 | 1026 | EEEFDSDSGLSLDSSHSPSSLSSSEG |
CASC3 | chr17 | 38325699 | NFE2L1 | chr17 | 46133747 | 2314 | 714 | TPQPVTIKPPPPEDIDLIDILWRQDI |
CASC3 | chr17 | 38325699 | NFE2L1 | chr17 | 46133747 | 2314 | 996 | EEEFDSDSGLSLDSSHSPSSLSSSEG |
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Potential FusionNeoAntigen Information of CASC3-NFE2L1 in HLA I |
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CASC3-NFE2L1_38325699_46133747.msa |
![]() * We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5) |
Fusion gene | Hchr | Hbp | Tgene | Tchr | Tbp | HLA I | FusionNeoAntigen peptide | Binding score | Immunogenic score | Neoantigen start (at BP 13) | Neoantigen end (at BP 13) |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | HLA-B14:03 | DSSHSPSSL | 0.9302 | 0.8839 | 12 | 21 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | HLA-C05:09 | SLDSSHSPSSL | 1 | 0.8774 | 10 | 21 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | HLA-C08:15 | SLDSSHSPSSL | 1 | 0.9687 | 10 | 21 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | HLA-A02:07 | SLDSSHSPSSL | 0.9031 | 0.6071 | 10 | 21 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | HLA-C04:03 | SLDSSHSPSSL | 1 | 0.8575 | 10 | 21 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | HLA-C05:01 | SLDSSHSPSSL | 1 | 0.8774 | 10 | 21 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | HLA-C08:02 | SLDSSHSPSSL | 1 | 0.9687 | 10 | 21 |
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Potential FusionNeoAntigen Information of CASC3-NFE2L1 in HLA II |
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CASC3-NFE2L1_38325699_46133747.msa |
![]() * We used NetMHCIIpan v4.1 (%rank<0.5). |
Fusion gene | Hchr | Hbp | Tgene | Tchr | Tbp | HLA II | FusionNeoAntigen peptide | Neoantigen start (at BP 13) | Neoantigen end (at BP 13) |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB1-0338 | EEEFDSDSGLSLDSS | 0 | 15 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0101 | EEEFDSDSGLSLDSS | 0 | 15 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0101 | EEFDSDSGLSLDSSH | 1 | 16 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0104 | EEEFDSDSGLSLDSS | 0 | 15 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0104 | EEFDSDSGLSLDSSH | 1 | 16 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0105 | EEEFDSDSGLSLDSS | 0 | 15 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0105 | EEFDSDSGLSLDSSH | 1 | 16 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0108 | EEEFDSDSGLSLDSS | 0 | 15 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0108 | EEFDSDSGLSLDSSH | 1 | 16 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0109 | EEEFDSDSGLSLDSS | 0 | 15 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0109 | EEFDSDSGLSLDSSH | 1 | 16 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0111 | EEEFDSDSGLSLDSS | 0 | 15 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0111 | EEFDSDSGLSLDSSH | 1 | 16 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0112 | EEEFDSDSGLSLDSS | 0 | 15 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0112 | EEFDSDSGLSLDSSH | 1 | 16 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0113 | EEEFDSDSGLSLDSS | 0 | 15 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0113 | EEFDSDSGLSLDSSH | 1 | 16 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0114 | EEEFDSDSGLSLDSS | 0 | 15 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0114 | EEFDSDSGLSLDSSH | 1 | 16 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0209 | EEEFDSDSGLSLDSS | 0 | 15 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0221 | EEEFDSDSGLSLDSS | 0 | 15 |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 | DRB3-0303 | EEEFDSDSGLSLDSS | 0 | 15 |
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Fusion breakpoint peptide structures of CASC3-NFE2L1 |
![]() * The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA. |
File name | BPseq | Hgene | Tgene | Hchr | Hbp | Tchr | Tbp | AAlen |
1402 | DSGLSLDSSHSPSS | CASC3 | NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 2314 |
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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of CASC3-NFE2L1 |
![]() * We used Glide to predict the interaction between HLAs and neoantigens. |
HLA allele | PDB ID | File name | BPseq | Docking score | Glide score |
HLA-B14:02 | 3BVN | 1402 | DSGLSLDSSHSPSS | -7.93879 | -8.05059 |
HLA-B14:02 | 3BVN | 1402 | DSGLSLDSSHSPSS | -5.56758 | -6.61068 |
HLA-B52:01 | 3W39 | 1402 | DSGLSLDSSHSPSS | -6.43169 | -6.54349 |
HLA-B52:01 | 3W39 | 1402 | DSGLSLDSSHSPSS | -3.1971 | -4.2402 |
HLA-A11:01 | 4UQ2 | 1402 | DSGLSLDSSHSPSS | -3.71647 | -3.82827 |
HLA-A24:02 | 5HGA | 1402 | DSGLSLDSSHSPSS | -7.93545 | -8.04725 |
HLA-A24:02 | 5HGA | 1402 | DSGLSLDSSHSPSS | -5.70699 | -6.75009 |
HLA-B44:05 | 3DX8 | 1402 | DSGLSLDSSHSPSS | -4.01788 | -4.12968 |
HLA-B44:05 | 3DX8 | 1402 | DSGLSLDSSHSPSS | -3.8031 | -4.8462 |
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Vaccine Design for the FusionNeoAntigens of CASC3-NFE2L1 |
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Fusion gene | Hchr | Hbp | Tchr | Tbp | Start in +/-13AA | End in +/-13AA | FusionNeoAntigen peptide sequence | FusionNeoAntigen RNA sequence |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 10 | 21 | SLDSSHSPSSL | CCACCTGAGGACATAGATCTGATTGACATCCTT |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 12 | 21 | DSSHSPSSL | GAGGACATAGATCTGATTGACATCCTT |
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Fusion gene | Hchr | Hbp | Tchr | Tbp | Start in +/-13AA | End in +/-13AA | FusionNeoAntigen peptide | FusionNEoAntigen RNA sequence |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 0 | 15 | EEEFDSDSGLSLDSS | ACTCCCCAGCCAGTCACCATCAAGCCCCCTCCACCTGAGGACATA |
CASC3-NFE2L1 | chr17 | 38325699 | chr17 | 46133747 | 1 | 16 | EEFDSDSGLSLDSSH | CCCCAGCCAGTCACCATCAAGCCCCCTCCACCTGAGGACATAGAT |
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Information of the samples that have these potential fusion neoantigens of CASC3-NFE2L1 |
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Cancer type | Fusion gene | Hchr | Hbp | Henst | Tchr | Tbp | Tenst | Sample |
ESCA | CASC3-NFE2L1 | chr17 | 38325699 | ENST00000264645 | chr17 | 46133747 | ENST00000357480 | TCGA-V5-A7RE |
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Potential target of CAR-T therapy development for CASC3-NFE2L1 |
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![]() * Minus value of BPloci means that the break point is located before the CDS. |
- In-frame and retained 'Transmembrane'. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
![]() * We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image. |
Hgene | Hchr | Hbp | Henst | Tgene | Tchr | Tbp | Tenst | DeepLoc result |
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Related Drugs to CASC3-NFE2L1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to CASC3-NFE2L1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |