WIPI1 WD repeat domain, phosphoinositide interacting 1
Information
- Symbol
- WIPI1
- Type
- protein-coding
- Description
- WD repeat domain, phosphoinositide interacting 1
- Entrez Gene ID
- 55062
- Genome
- hg19
- Position
- chr17:66,417,422-66,453,637
- Genome
- hg38
- Position
- chr17:68,421,281-68,457,496
- MIM
- 609224 OMIM
- HGNC
- HGNC:25471 HGNC
- Ensembl
- ENSG00000070540 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 4 |
| Affects | 0 | 2 |
| not provided | 2 | 0 |
| Uncertain significance | 0 | 42 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
52 |
 |
2 |
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 | ATG18 |
| SYNONYM | ATG18A |
| SYNONYM | WIPI49 |
| MIM | 609224 OMIM |
| HGNC | HGNC:25471 HGNC |
| Ensembl | ENSG00000070540 Ensembl |
| AllianceGenome | HGNC:25471 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000546360.5 | hg38 | chr17 | 68,421,514 | 68,457,479 | 35,966 |
| ENST00000262139.10 | hg38 | chr17 | 68,421,281 | 68,457,496 | 36,216 |
| ENST00000262139.10 | hg19 | chr17 | 66,417,422 | 66,453,637 | 36,216 |
| ENST00000546360.5 | hg19 | chr17 | 66,417,655 | 66,453,620 | 35,966 |
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