chr9:32455302:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:32,455,300-32,526,346 |
| hg38 | chr9:32,455,302-32,526,348 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Malignant tumor of cervix | NA | BeFree | Detail | |
| <0.001 | Chikungunya Fever | In the present study, we generated novel 5'ppp RIG-I agonists of varieous length... | BeFree | 26018150 | Detail |
| <0.001 | ulcerative colitis | NA | BeFree | Detail | |
| <0.001 | Crohn Disease | NA | BeFree | Detail | |
| <0.001 | dermatomyositis | NA | BeFree | Detail | |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree | Detail | |
| <0.001 | Japanese encephalitis | NA | BeFree | Detail | |
| <0.001 | glaucoma | Taken together, our results demonstrate that DDX58 mutations cause atypical SMS ... | BeFree | 25620203 | Detail |
| <0.001 | glioblastoma | NA | BeFree | Detail | |
| <0.001 | glomerulonephritis | NA | BeFree | Detail | |
| <0.001 | IgA glomerulonephritis | NA | BeFree | Detail | |
| <0.001 | Severe Dengue | Polymorphisms in the DDX58 and IFIH1 genes, which code for the retinoic acid ind... | BeFree | 25850761 | Detail |
| <0.001 | hepatitis B | The RNA sensor RIG-I dually functions as an innate sensor and direct antiviral f... | BeFree | 25557055 | Detail |
| 0.125 | hepatitis C | Unexpectedly, the interaction between HCV's 3'UTR and RIG-I seemed to play a min... | BeFree,CTD_human,GAD | 25463548 | Detail |
| 0.125 | hepatitis C | Pathogen-Associated Molecular Pattern Recognition of Hepatitis C Virus Transmitt... | BeFree,CTD_human,GAD | 26311867 | Detail |
| <0.001 | Herpes Simplex Infections | NA | BeFree | Detail | |
| <0.001 | HIV Infections | NA | BeFree | Detail | |
| <0.001 | hydrophthalmos | Further analysis of DDX58 in 100 individuals with congenital glaucoma identified... | BeFree | 25620203 | Detail |
| 0.126 | influenza | The increased level of IFN-λ mRNA corresponded to significantly increased level ... | BeFree,CTD_human,LHGDN | 26104331 | Detail |
| 0.126 | influenza | Enhanced Influenza Virus-Like Particle Vaccination with a Structurally Optimized... | BeFree,CTD_human,LHGDN | 26269188 | Detail |
| <0.001 | Lupus Erythematosus, Systemic | Genetic polymorphisms of dsRNA ligating pattern recognition receptors TLR3, MDA5... | BeFree | 24719229 | Detail |
| <0.001 | lupus nephritis | This study aimed to demonstrate possible associations between genetic polymorphi... | BeFree | 24719229 | Detail |
| <0.001 | lymphocytic choriomeningitis | NA | BeFree | Detail | |
| 0.002 | measles | NA | BeFree | Detail | |
| 0.009 | melanoma | We also found that ISG56 positively regulates the expression of ISG54, retinoic ... | BeFree | 24630834 | Detail |
| 0.009 | melanoma | Retinoic acid-inducible gene I (RIG-I) and melanoma differentiation-associated g... | BeFree | 24800889 | Detail |
| 0.009 | melanoma | Retinoic acid inducible gene-I (RIG-I)-like helicases such as melanoma different... | BeFree | 25130193 | Detail |
| 0.009 | melanoma | Expression of the IFITM proteins was found to delay the phosphorylation of IFN r... | BeFree | 25228491 | Detail |
| <0.001 | meningoencephalitis | The meningoencephalitis symptom phenotype cluster among seropositive patients wa... | BeFree | 25756647 | Detail |
| 0.005 | multiple sclerosis | NA | GAD | Detail | |
| <0.001 | myasthenia gravis | Next, we investigated if dsRNA signaling pathway involvement could be observed i... | BeFree | 24440286 | Detail |
| 0.002 | neutropenia | NA | GAD | Detail | |
| <0.001 | Degenerative polyarthritis | NA | BeFree | Detail | |
| <0.001 | ovarian carcinoma | NA | BeFree | Detail | |
| 0.240 | psoriasis | We screened a cDNA library and identified potential RIG-I interacting partners t... | BeFree,CTD_human,GWASCAT | 25658361 | Detail |
| <0.001 | Rabies (disorder) | NA | BeFree | Detail | |
| <0.001 | Reoviridae Infections | NA | BeFree | Detail | |
| <0.001 | Respiratory Syncytial Virus Infections | Here, we performed a thorough analysis of the temporal involvement of RIG-I and ... | BeFree | 24800889 | Detail |
| <0.001 | Respiratory Syncytial Virus Infections | Here, we show that RSV infection of lung epithelial cells induces expression of ... | BeFree | 25972545 | Detail |
| 0.002 | RNA Virus Infections | A novel, sequence-dependent, uridine-rich RIG-I agonist generated a protective a... | BeFree | 26018150 | Detail |
| 0.003 | Dermatologic disorders | NA | BeFree,LHGDN | Detail | |
| 0.002 | thrombocytopenia | NA | GAD | Detail | |
| <0.001 | thymoma | Next, we investigated if dsRNA signaling pathway involvement could be observed i... | BeFree | 24440286 | Detail |
| <0.001 | Chagas disease | NA | BeFree | Detail | |
| 0.010 | Virus Diseases | This is critical for promoting the growth and survival of T lymphocytes as well ... | BeFree | 24816846 | Detail |
| 0.010 | Virus Diseases | RIG-I enhanced interferon independent apoptosis upon Junin virus infection. | BeFree | 24918927 | Detail |
| 0.010 | Virus Diseases | Roles of retinoic acid-inducible gene-I-like receptors (RLRs), Toll-like recepto... | BeFree | 25550087 | Detail |
| 0.010 | Virus Diseases | The increased level of IFN-λ mRNA corresponded to significantly increased level ... | BeFree | 26104331 | Detail |
| 0.010 | Virus Diseases | T/F variants found in acute infection contained longer U cores within the motif ... | BeFree | 26311867 | Detail |
| <0.001 | Encephalopathies | NA | BeFree | Detail | |
| <0.001 | Non-arthropod borne lymphocytic choriomeningitis | NA | BeFree | Detail | |
| <0.001 | Secondary malignant neoplasm of lung | NA | BeFree | Detail | |
| <0.001 | Arterivirus Infections | NA | BeFree | Detail | |
| <0.001 | Adult type dermatomyositis | NA | BeFree | Detail | |
| <0.001 | Heart Failure, Right-Sided | Having three or more RVF-related symptoms was significantly associated with poly... | BeFree | 25756647 | Detail |
| <0.001 | Inclusion Body Myositis (disorder) | NA | BeFree | Detail | |
| 0.120 | Disease Progression | NA | CTD_human | Detail | |
| <0.001 | viral encephalitis | NA | BeFree | Detail | |
| <0.001 | Psoriasis vulgaris | NA | BeFree | Detail | |
| <0.001 | Vesicular Stomatitis | NA | BeFree | Detail | |
| <0.001 | Solid tumour | Although some previous reports have shown that EBERs and RIG-I associate with he... | BeFree | 25721089 | Detail |
| <0.001 | cervix carcinoma | NA | BeFree | Detail | |
| <0.001 | Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site | Here, we performed a thorough analysis of the temporal involvement of RIG-I and ... | BeFree | 24800889 | Detail |
| <0.001 | Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site | Suppression of RIG-I induction blocked RSV-induced NLRC5 expression and MHC-I up... | BeFree | 25972545 | Detail |
| <0.001 | Hematologic Neoplasms | Although some previous reports have shown that EBERs and RIG-I associate with he... | BeFree | 25721089 | Detail |
| <0.001 | Singleton Merten syndrome | Taken together, our results demonstrate that DDX58 mutations cause atypical SMS ... | BeFree | 25620203 | Detail |
| 0.006 | Hepatitis C, Chronic | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Secondary malignant neoplasm of lymph node | NA | BeFree | Detail | |
| <0.001 | ovarian neoplasm | NA | BeFree | Detail | |
| <0.001 | Primary infection NOS | NA | BeFree | Detail | |
| <0.001 | West Nile viral infection | The innate immune response to West Nile virus (WNV) infection involves recogniti... | BeFree | 25127040 | Detail |
| <0.001 | Aortic calcification | Further analysis of DDX58 in 100 individuals with congenital glaucoma identified... | BeFree | 25620203 | Detail |
| <0.001 | Malignant neoplasm of ovary | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of the head and neck | NA | BeFree | Detail | |
| <0.001 | Persistent infection | We analyzed 14 nonsynonymous single-nucleotide polymorphisms in RIG-I-like helic... | BeFree | 25130193 | Detail |
| <0.001 | Sendai virus infection | Our results show that Sendai virus infection, which is recognized by RIG-I, led ... | BeFree | 25158146 | Detail |
| <0.001 | pancreatic ductal adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | Xenograft Model | Consequently, the tumor burden was greatly alleviated in the RIG-I knockdown gro... | BeFree | 25721089 | Detail |
| <0.001 | liver carcinoma | Similarly, we observed decreased DNA fragmentation in JUNV-infected human hepato... | BeFree | 24918927 | Detail |
| <0.001 | Nasopharyngeal carcinoma | Nasopharyngeal carcinoma progression is mediated by EBER-triggered inflammation ... | BeFree | 25721089 | Detail |
| 0.011 | Infection | NA | LHGDN | Detail | |
| 0.120 | Inflammatory dermatosis | NA | GWASCAT | Detail | |
| <0.001 | rheumatoid arthritis | NA | BeFree | Detail | |
| <0.001 | Autoimmune Diseases | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| In the present study, we generated novel 5'ppp RIG-I agonists of varieous lengths, structures, and s... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Taken together, our results demonstrate that DDX58 mutations cause atypical SMS manifesting with var... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Polymorphisms in the DDX58 and IFIH1 genes, which code for the retinoic acid inducible gene-1 protei... | DisGeNET | Detail |
| The RNA sensor RIG-I dually functions as an innate sensor and direct antiviral factor for hepatitis ... | DisGeNET | Detail |
| Unexpectedly, the interaction between HCV's 3'UTR and RIG-I seemed to play a minor role in this acti... | DisGeNET | Detail |
| Pathogen-Associated Molecular Pattern Recognition of Hepatitis C Virus Transmitted/Founder Variants ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Further analysis of DDX58 in 100 individuals with congenital glaucoma identified another variant (c.... | DisGeNET | Detail |
| The increased level of IFN-λ mRNA corresponded to significantly increased level of RIG-1 mRNA. shRNA... | DisGeNET | Detail |
| Enhanced Influenza Virus-Like Particle Vaccination with a Structurally Optimized RIG-I Agonist as Ad... | DisGeNET | Detail |
| Genetic polymorphisms of dsRNA ligating pattern recognition receptors TLR3, MDA5, and RIG-I. Associa... | DisGeNET | Detail |
| This study aimed to demonstrate possible associations between genetic polymorphisms in Toll-like rec... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We also found that ISG56 positively regulates the expression of ISG54, retinoic acid-inducible gene-... | DisGeNET | Detail |
| Retinoic acid-inducible gene I (RIG-I) and melanoma differentiation-associated gene 5 (MDA5) are the... | DisGeNET | Detail |
| Retinoic acid inducible gene-I (RIG-I)-like helicases such as melanoma differentiation-associated ge... | DisGeNET | Detail |
| Expression of the IFITM proteins was found to delay the phosphorylation of IFN regulatory factor 3 t... | DisGeNET | Detail |
| The meningoencephalitis symptom phenotype cluster among seropositive patients was associated with po... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Next, we investigated if dsRNA signaling pathway involvement could be observed in MG-T, as recently ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We screened a cDNA library and identified potential RIG-I interacting partners that may play a role ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Here, we performed a thorough analysis of the temporal involvement of RIG-I and MDA5 in the regulati... | DisGeNET | Detail |
| Here, we show that RSV infection of lung epithelial cells induces expression of RIG-I, resulting in ... | DisGeNET | Detail |
| A novel, sequence-dependent, uridine-rich RIG-I agonist generated a protective antiviral response in... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Next, we investigated if dsRNA signaling pathway involvement could be observed in MG-T, as recently ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This is critical for promoting the growth and survival of T lymphocytes as well as the regulation of... | DisGeNET | Detail |
| RIG-I enhanced interferon independent apoptosis upon Junin virus infection. | DisGeNET | Detail |
| Roles of retinoic acid-inducible gene-I-like receptors (RLRs), Toll-like receptor (TLR) 3 and 2'-5' ... | DisGeNET | Detail |
| The increased level of IFN-λ mRNA corresponded to significantly increased level of RIG-1 mRNA. shRNA... | DisGeNET | Detail |
| T/F variants found in acute infection contained longer U cores within the motif and could activate R... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Having three or more RVF-related symptoms was significantly associated with polymorphisms in TICAM1/... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Although some previous reports have shown that EBERs and RIG-I associate with hematological malignan... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Here, we performed a thorough analysis of the temporal involvement of RIG-I and MDA5 in the regulati... | DisGeNET | Detail |
| Suppression of RIG-I induction blocked RSV-induced NLRC5 expression and MHC-I upregulation. | DisGeNET | Detail |
| Although some previous reports have shown that EBERs and RIG-I associate with hematological malignan... | DisGeNET | Detail |
| Taken together, our results demonstrate that DDX58 mutations cause atypical SMS manifesting with var... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The innate immune response to West Nile virus (WNV) infection involves recognition through toll-like... | DisGeNET | Detail |
| Further analysis of DDX58 in 100 individuals with congenital glaucoma identified another variant (c.... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We analyzed 14 nonsynonymous single-nucleotide polymorphisms in RIG-I-like helicase-pathway-genes co... | DisGeNET | Detail |
| Our results show that Sendai virus infection, which is recognized by RIG-I, led to IRF3 activation a... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Consequently, the tumor burden was greatly alleviated in the RIG-I knockdown group in a xenograft mo... | DisGeNET | Detail |
| Similarly, we observed decreased DNA fragmentation in JUNV-infected human hepatocarcinoma cells defi... | DisGeNET | Detail |
| Nasopharyngeal carcinoma progression is mediated by EBER-triggered inflammation via the RIG-I pathwa... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chr9:32,455,302-32,526,348
- Variant Type
- snv
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