PABIR1 PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1
Information
- Symbol
- PABIR1
- Type
- protein-coding
- Description
- PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1
- Entrez Gene ID
- 116224
- Genome
- hg19
- Position
- chr9:71,394,981-71,400,482
- Genome
- hg38
- Position
- chr9:68,780,065-68,785,566
- MIM
- 617249 OMIM
- HGNC
- HGNC:23490 HGNC
- Ensembl
- ENSG00000187866 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Uncertain significance | 0 | 22 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
24 |
 |
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 | |||||
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| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
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MGeND data only
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| 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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| 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 | C9orf42 |
| SYNONYM | FAM122A |
| MIM | 617249 OMIM |
| HGNC | HGNC:23490 HGNC |
| Ensembl | ENSG00000187866 Ensembl |
| AllianceGenome | HGNC:23490 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000394264.7 | hg38 | chr9 | 68,780,065 | 68,785,566 | 5,502 |
| ENST00000394264.7 | hg19 | chr9 | 71,394,981 | 71,400,482 | 5,502 |
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