CHERP calcium homeostasis endoplasmic reticulum protein
Information
- Symbol
- CHERP
- Type
- protein-coding
- Description
- calcium homeostasis endoplasmic reticulum protein
- Entrez Gene ID
- 10523
- Genome
- hg19
- Position
- chr19:16,628,705-16,653,248
- Genome
- hg38
- Position
- chr19:16,517,894-16,542,437
- MIM
- 618539 OMIM
- HGNC
- HGNC:16930 HGNC
- Ensembl
- ENSG00000085872 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 10 |
| Uncertain significance | 0 | 60 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
70 |
 |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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
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MGeND data only
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| 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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| 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 | DAN16 |
| SYNONYM | SCAF6 |
| SYNONYM | SRA1 |
| MIM | 618539 OMIM |
| HGNC | HGNC:16930 HGNC |
| Ensembl | ENSG00000085872 Ensembl |
| AllianceGenome | HGNC:16930 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000198939.6 | hg38 | chr19 | 16,517,896 | 16,542,415 | 24,520 |
| ENST00000546361.7 | hg38 | chr19 | 16,517,894 | 16,542,437 | 24,544 |
| ENST00000546361.7 | hg19 | chr19 | 16,628,705 | 16,653,248 | 24,544 |
| ENST00000198939.6 | hg19 | chr19 | 16,628,707 | 16,653,226 | 24,520 |
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