PACS1 phosphofurin acidic cluster sorting protein 1
Information
- Symbol
- PACS1
- Type
- protein-coding
- Description
- phosphofurin acidic cluster sorting protein 1
- Entrez Gene ID
- 55690
- Genome
- hg19
- Position
- chr11:65,837,743-66,012,215
- Genome
- hg38
- Position
- chr11:66,070,272-66,244,744
- MIM
- 607492 OMIM
- HGNC
- HGNC:30032 HGNC
- Ensembl
- ENSG00000175115 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 4 |
| Likely pathogenic | 0 | 8 |
| Benign | 0 | 246 |
| Likely benign | 0 | 746 |
| Conflicting classifications of pathogenicity | 0 | 60 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 508 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
220 |
 |
1,216 |
 |
6 |
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 | MRD17 |
| SYNONYM | SHMS |
| MIM | 607492 OMIM |
| HGNC | HGNC:30032 HGNC |
| Ensembl | ENSG00000175115 Ensembl |
| AllianceGenome | HGNC:30032 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000320580.9 | hg38 | chr11 | 66,070,272 | 66,244,744 | 174,473 |
| ENST00000529757.5 | hg38 | chr11 | 66,230,380 | 66,243,282 | 12,903 |
| ENST00000524815.5 | hg38 | chr11 | 66,240,948 | 66,243,318 | 2,371 |
| ENST00000320580.9 | hg19 | chr11 | 65,837,743 | 66,012,215 | 174,473 |
| ENST00000529757.5 | hg19 | chr11 | 65,997,851 | 66,010,753 | 12,903 |
| ENST00000524815.5 | hg19 | chr11 | 66,008,419 | 66,010,789 | 2,371 |
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