PITPNM1 phosphatidylinositol transfer protein membrane associated 1
Information
- Symbol
- PITPNM1
- Type
- protein-coding
- Description
- phosphatidylinositol transfer protein membrane associated 1
- Entrez Gene ID
- 9600
- Genome
- hg19
- Position
- chr11:67,259,239-67,272,834
- Genome
- hg38
- Position
- chr11:67,491,768-67,505,363
- MIM
- 608794 OMIM
- HGNC
- HGNC:9003 HGNC
- Ensembl
- ENSG00000110697 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 8 |
| Likely benign | 0 | 14 |
| Uncertain significance | 0 | 148 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
2 |
 |
166 |
 |
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
| Target data | : |
MGeND data only
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| 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
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| Category | : |
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| 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 | DRES9 |
| SYNONYM | NIR2 |
| SYNONYM | PITPNM |
| SYNONYM | RDGB |
| SYNONYM | RDGB1 |
| SYNONYM | RDGBA |
| SYNONYM | RDGBA1 |
| SYNONYM | Rd9 |
| MIM | 608794 OMIM |
| HGNC | HGNC:9003 HGNC |
| Ensembl | ENSG00000110697 Ensembl |
| AllianceGenome | HGNC:9003 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000356404.8 | hg38 | chr11 | 67,491,768 | 67,505,363 | 13,596 |
| ENST00000534749.5 | hg38 | chr11 | 67,491,768 | 67,504,369 | 12,602 |
| ENST00000436757.6 | hg38 | chr11 | 67,491,768 | 67,505,365 | 13,598 |
| ENST00000534749.5 | hg19 | chr11 | 67,259,239 | 67,271,840 | 12,602 |
| ENST00000356404.8 | hg19 | chr11 | 67,259,239 | 67,272,834 | 13,596 |
| ENST00000436757.6 | hg19 | chr11 | 67,259,239 | 67,272,836 | 13,598 |
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