PORCN porcupine O-acyltransferase
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 3 | 56 |
| Likely pathogenic | 0 | 38 |
| Benign | 0 | 42 |
| Likely benign | 0 | 66 |
| Conflicting classifications of pathogenicity | 0 | 8 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 76 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
36 |
 |
208 |
 |
22 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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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| Category | : |
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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 | DHOF |
| SYNONYM | FODH |
| SYNONYM | MG61 |
| SYNONYM | PORC |
| SYNONYM | PPN |
| MIM | 300651 OMIM |
| HGNC | HGNC:17652 HGNC |
| Ensembl | ENSG00000102312 Ensembl |
| AllianceGenome | HGNC:17652 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000367574.9 | hg38 | chrX | 48,509,462 | 48,520,796 | 11,335 |
| ENST00000355961.8 | hg38 | chrX | 48,509,002 | 48,520,814 | 11,813 |
| ENST00000361988.7 | hg38 | chrX | 48,509,040 | 48,520,694 | 11,655 |
| ENST00000326194.11 | hg38 | chrX | 48,508,992 | 48,520,808 | 11,817 |
| ENST00000359882.8 | hg38 | chrX | 48,508,962 | 48,520,806 | 11,845 |
| ENST00000537758.6 | hg38 | chrX | 48,509,234 | 48,520,796 | 11,563 |
| ENST00000683923.1 | hg38 | chrX | 48,509,019 | 48,520,796 | 11,778 |
| ENST00000359882.8 | hg19 | chrX | 48,367,350 | 48,379,194 | 11,845 |
| ENST00000326194.11 | hg19 | chrX | 48,367,380 | 48,379,196 | 11,817 |
| ENST00000355961.8 | hg19 | chrX | 48,367,390 | 48,379,202 | 11,813 |
| ENST00000361988.7 | hg19 | chrX | 48,367,428 | 48,379,082 | 11,655 |
| ENST00000367574.9 | hg19 | chrX | 48,367,850 | 48,379,184 | 11,335 |
| ENST00000537758.6 | hg19 | chrX | 48,367,622 | 48,379,184 | 11,563 |
| ENST00000683923.1 | hg19 | chrX | 48,367,407 | 48,379,184 | 11,778 |
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