PIBF1 progesterone immunomodulatory binding factor 1
Information
- Symbol
- PIBF1
- Type
- protein-coding
- Description
- progesterone immunomodulatory binding factor 1
- Entrez Gene ID
- 10464
- Genome
- hg19
- Position
- chr13:73,356,271-73,590,599
- Genome
- hg38
- Position
- chr13:72,782,133-73,016,461
- MIM
- 607532 OMIM
- HGNC
- HGNC:23352 HGNC
- Ensembl
- ENSG00000083535 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 16 |
| Likely pathogenic | 0 | 20 |
| Benign | 0 | 36 |
| Likely benign | 0 | 82 |
| Conflicting classifications of pathogenicity | 0 | 10 |
| Uncertain significance | 0 | 110 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
34 |
 |
206 |
 |
10 |
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 | C13orf24 |
| SYNONYM | CEP90 |
| SYNONYM | JBTS33 |
| SYNONYM | PIBF |
| MIM | 607532 OMIM |
| HGNC | HGNC:23352 HGNC |
| Ensembl | ENSG00000083535 Ensembl |
| AllianceGenome | HGNC:23352 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000326291.11 | hg38 | chr13 | 72,782,133 | 73,016,461 | 234,329 |
| ENST00000617689.4 | hg38 | chr13 | 72,782,140 | 72,974,251 | 192,112 |
| ENST00000615625.1 | hg38 | chr13 | 72,782,225 | 73,015,980 | 233,756 |
| ENST00000326291.11 | hg19 | chr13 | 73,356,271 | 73,590,599 | 234,329 |
| ENST00000617689.4 | hg19 | chr13 | 73,356,278 | 73,548,389 | 192,112 |
| ENST00000615625.1 | hg19 | chr13 | 73,356,363 | 73,590,118 | 233,756 |
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