TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
Information
- Symbol
- TCIRG1
- Type
- protein-coding
- Description
- T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
- Entrez Gene ID
- 10312
- Genome
- hg19
- Position
- chr11:67,806,492-67,818,362
- Genome
- hg38
- Position
- chr11:68,039,025-68,050,895
- MIM
- 604592 OMIM
- HGNC
- HGNC:11647 HGNC
- Ensembl
- ENSG00000110719 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 4 | 270 |
| Likely pathogenic | 0 | 248 |
| Benign | 0 | 70 |
| Likely benign | 0 | 1,452 |
| Conflicting classifications of pathogenicity | 0 | 124 |
| Uncertain significance | 0 | 770 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
362 |
 |
2,320 |
 |
28 |
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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| Category | : |
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| Filtering | : |
| 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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| Category | : |
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| Search word | : | |
| 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
|
| Category | : |
|
| 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 | ATP6N1C |
| SYNONYM | ATP6V0A3 |
| SYNONYM | Atp6i |
| SYNONYM | OC-116kDa |
| SYNONYM | OC116 |
| SYNONYM | OPTB1 |
| SYNONYM | Stv1 |
| SYNONYM | TIRC7 |
| SYNONYM | Vph1 |
| SYNONYM | a3 |
| MIM | 604592 OMIM |
| HGNC | HGNC:11647 HGNC |
| Ensembl | ENSG00000110719 Ensembl |
| AllianceGenome | HGNC:11647 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000698255.1 | hg38 | chr11 | 68,039,048 | 68,050,880 | 11,833 |
| ENST00000698254.1 | hg38 | chr11 | 68,039,048 | 68,050,871 | 11,824 |
| ENST00000265686.8 | hg38 | chr11 | 68,039,025 | 68,050,895 | 11,871 |
| ENST00000532635.5 | hg38 | chr11 | 68,042,980 | 68,050,895 | 7,916 |
| ENST00000265686.8 | hg19 | chr11 | 67,806,492 | 67,818,362 | 11,871 |
| ENST00000532635.5 | hg19 | chr11 | 67,810,447 | 67,818,362 | 7,916 |
| ENST00000698254.1 | hg19 | chr11 | 67,806,515 | 67,818,338 | 11,824 |
| ENST00000698255.1 | hg19 | chr11 | 67,806,515 | 67,818,347 | 11,833 |
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