PEX5 peroxisomal biogenesis factor 5
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 86 |
| Likely pathogenic | 0 | 44 |
| Benign | 0 | 130 |
| Likely benign | 0 | 802 |
| Conflicting classifications of pathogenicity | 0 | 112 |
| Uncertain significance | 0 | 794 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
218 |
 |
1,610 |
 |
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 | |||||||||||
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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 | PBD2A |
| SYNONYM | PBD2B |
| SYNONYM | PTS1-BP |
| SYNONYM | PTS1R |
| SYNONYM | PXR1 |
| SYNONYM | RCDP5 |
| MIM | 600414 OMIM |
| HGNC | HGNC:9719 HGNC |
| Ensembl | ENSG00000139197 Ensembl |
| AllianceGenome | HGNC:9719 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000412720.6 | hg38 | chr12 | 7,189,845 | 7,210,256 | 20,412 |
| ENST00000455147.6 | hg38 | chr12 | 7,189,163 | 7,218,571 | 29,409 |
| ENST00000420616.6 | hg38 | chr12 | 7,189,715 | 7,210,262 | 20,548 |
| ENST00000266564.7 | hg38 | chr12 | 7,190,361 | 7,211,480 | 21,120 |
| ENST00000266563.9 | hg38 | chr12 | 7,189,584 | 7,211,483 | 21,900 |
| ENST00000675855.1 | hg38 | chr12 | 7,189,686 | 7,211,459 | 21,774 |
| ENST00000434354.6 | hg38 | chr12 | 7,189,687 | 7,210,431 | 20,745 |
| ENST00000266563.9 | hg19 | chr12 | 7,342,180 | 7,364,079 | 21,900 |
| ENST00000266564.7 | hg19 | chr12 | 7,342,957 | 7,364,076 | 21,120 |
| ENST00000412720.6 | hg19 | chr12 | 7,342,441 | 7,362,852 | 20,412 |
| ENST00000420616.6 | hg19 | chr12 | 7,342,311 | 7,362,858 | 20,548 |
| ENST00000434354.6 | hg19 | chr12 | 7,342,283 | 7,363,027 | 20,745 |
| ENST00000455147.6 | hg19 | chr12 | 7,341,759 | 7,371,167 | 29,409 |
| ENST00000675855.1 | hg19 | chr12 | 7,342,282 | 7,364,055 | 21,774 |
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