STING1 stimulator of interferon response cGAMP interactor 1
Information
- Symbol
- STING1
- Type
- protein-coding
- Description
- stimulator of interferon response cGAMP interactor 1
- Entrez Gene ID
- 340061
- Genome
- hg19
- Position
- chr5:138,855,160-138,861,758
- Genome
- hg38
- Position
- chr5:139,475,575-139,482,173
- MIM
- 612374 OMIM
- HGNC
- HGNC:27962 HGNC
- Ensembl
- ENSG00000184584 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 1 | 12 |
| Likely pathogenic | 0 | 6 |
| Benign | 0 | 46 |
| Likely benign | 0 | 194 |
| Conflicting classifications of pathogenicity | 0 | 32 |
| Uncertain significance | 0 | 348 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
82 |
 |
514 |
 |
4 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | ERIS |
| SYNONYM | MITA |
| SYNONYM | MPYS |
| SYNONYM | NET23 |
| SYNONYM | SAVI |
| SYNONYM | STING |
| SYNONYM | STING-beta |
| SYNONYM | TMEM173 |
| SYNONYM | hMITA |
| SYNONYM | hSTING |
| MIM | 612374 OMIM |
| HGNC | HGNC:27962 HGNC |
| Ensembl | ENSG00000184584 Ensembl |
| AllianceGenome | HGNC:27962 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000652543.1 | hg38 | chr5 | 139,475,967 | 139,482,717 | 6,751 |
| ENST00000651699.1 | hg38 | chr5 | 139,475,638 | 139,482,361 | 6,724 |
| ENST00000651565.1 | hg38 | chr5 | 139,475,588 | 139,482,689 | 7,102 |
| ENST00000330794.9 | hg38 | chr5 | 139,475,533 | 139,482,758 | 7,226 |
| ENST00000652110.1 | hg38 | chr5 | 139,475,788 | 139,482,299 | 6,512 |
| ENST00000652271.1 | hg38 | chr5 | 139,475,575 | 139,482,173 | 6,599 |
| ENST00000330794.9 | hg19 | chr5 | 138,855,118 | 138,862,343 | 7,226 |
| ENST00000651565.1 | hg19 | chr5 | 138,855,173 | 138,862,274 | 7,102 |
| ENST00000651699.1 | hg19 | chr5 | 138,855,223 | 138,861,946 | 6,724 |
| ENST00000652110.1 | hg19 | chr5 | 138,855,373 | 138,861,884 | 6,512 |
| ENST00000652271.1 | hg19 | chr5 | 138,855,160 | 138,861,758 | 6,599 |
| ENST00000652543.1 | hg19 | chr5 | 138,855,552 | 138,862,302 | 6,751 |
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