PIMREG PICALM interacting mitotic regulator
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 38 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
42 |
 |
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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| 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 | CATS |
| SYNONYM | FAM64A |
| SYNONYM | RCS1 |
| MIM | 617611 OMIM |
| HGNC | HGNC:25483 HGNC |
| Ensembl | ENSG00000129195 Ensembl |
| AllianceGenome | HGNC:25483 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000571373.5 | hg38 | chr17 | 6,444,443 | 6,449,938 | 5,496 |
| ENST00000570337.6 | hg38 | chr17 | 6,444,443 | 6,450,365 | 5,923 |
| ENST00000576056.5 | hg38 | chr17 | 6,444,475 | 6,450,291 | 5,817 |
| ENST00000572447.6 | hg38 | chr17 | 6,444,455 | 6,451,469 | 7,015 |
| ENST00000572595.6 | hg38 | chr17 | 6,444,446 | 6,451,055 | 6,610 |
| ENST00000250056.12 | hg38 | chr17 | 6,444,441 | 6,451,065 | 6,625 |
| ENST00000250056.12 | hg19 | chr17 | 6,347,761 | 6,354,385 | 6,625 |
| ENST00000571373.5 | hg19 | chr17 | 6,347,763 | 6,353,258 | 5,496 |
| ENST00000570337.6 | hg19 | chr17 | 6,347,763 | 6,353,685 | 5,923 |
| ENST00000572595.6 | hg19 | chr17 | 6,347,766 | 6,354,375 | 6,610 |
| ENST00000572447.6 | hg19 | chr17 | 6,347,775 | 6,354,789 | 7,015 |
| ENST00000576056.5 | hg19 | chr17 | 6,347,795 | 6,353,611 | 5,817 |
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