PSENEN presenilin enhancer, gamma-secretase subunit
Information
- Symbol
- PSENEN
- Type
- protein-coding
- Description
- presenilin enhancer, gamma-secretase subunit
- Entrez Gene ID
- 55851
- Genome
- hg19
- Position
- chr19:36,236,552-36,238,420
- Genome
- hg38
- Position
- chr19:35,745,651-35,747,519
- MIM
- 607632 OMIM
- HGNC
- HGNC:30100 HGNC
- Ensembl
- ENSG00000205155 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 14 |
Benign | 5 | 4 |
Likely benign | 0 | 32 |
Uncertain significance | 0 | 34 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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2 |
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68 |
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14 |
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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Search word | : | |
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 | ACNINV2 |
SYNONYM | MDS033 |
SYNONYM | MSTP064 |
SYNONYM | PEN-2 |
SYNONYM | PEN2 |
MIM | 607632 OMIM |
HGNC | HGNC:30100 HGNC |
Ensembl | ENSG00000205155 Ensembl |
AllianceGenome | HGNC:30100 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000587708.7 | hg38 | chr19 | 35,745,651 | 35,747,519 | 1,869 |
ENST00000591949.1 | hg38 | chr19 | 35,745,600 | 35,746,993 | 1,394 |
ENST00000222266.2 | hg38 | chr19 | 35,745,619 | 35,747,004 | 1,386 |
ENST00000591949.1 | hg19 | chr19 | 36,236,501 | 36,237,894 | 1,394 |
ENST00000222266.2 | hg19 | chr19 | 36,236,520 | 36,237,905 | 1,386 |
ENST00000587708.7 | hg19 | chr19 | 36,236,552 | 36,238,420 | 1,869 |
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