CTLA4 cytotoxic T-lymphocyte associated protein 4
Information
- Symbol
- CTLA4
- Type
- protein-coding
- Description
- cytotoxic T-lymphocyte associated protein 4
- Entrez Gene ID
- 1493
- Genome
- hg19
- Position
- chr2:204,732,494-204,738,688
- Genome
- hg38
- Position
- chr2:203,867,771-203,873,965
- MIM
- 123890 OMIM
- HGNC
- HGNC:2505 HGNC
- Ensembl
- ENSG00000163599 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 6 | 52 |
| Likely pathogenic | 0 | 22 |
| Benign | 0 | 18 |
| Likely benign | 0 | 112 |
| Conflicting classifications of pathogenicity | 0 | 18 |
| not provided | 9 | 0 |
| Uncertain significance | 1 | 234 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
42 |
 |
384 |
 |
10 |
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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| 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 | ALPS5 |
| SYNONYM | CD |
| SYNONYM | CD152 |
| SYNONYM | CELIAC3 |
| SYNONYM | CTLA-4 |
| SYNONYM | GRD4 |
| SYNONYM | GSE |
| SYNONYM | IDDM12 |
| MIM | 123890 OMIM |
| HGNC | HGNC:2505 HGNC |
| Ensembl | ENSG00000163599 Ensembl |
| AllianceGenome | HGNC:2505 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000696479.1 | hg38 | chr2 | 203,853,888 | 203,873,965 | 20,078 |
| ENST00000295854.10 | hg38 | chr2 | 203,867,943 | 203,872,775 | 4,833 |
| ENST00000696049.1 | hg38 | chr2 | 203,867,771 | 203,873,196 | 5,426 |
| ENST00000487393.1 | hg38 | chr2 | 203,867,943 | 203,872,812 | 4,870 |
| ENST00000648405.2 | hg38 | chr2 | 203,867,771 | 203,873,965 | 6,195 |
| ENST00000696479.1 | hg19 | chr2 | 204,718,611 | 204,738,688 | 20,078 |
| ENST00000696049.1 | hg19 | chr2 | 204,732,494 | 204,737,919 | 5,426 |
| ENST00000648405.2 | hg19 | chr2 | 204,732,494 | 204,738,688 | 6,195 |
| ENST00000295854.10 | hg19 | chr2 | 204,732,666 | 204,737,498 | 4,833 |
| ENST00000487393.1 | hg19 | chr2 | 204,732,666 | 204,737,535 | 4,870 |
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