PORCN porcupine O-acyltransferase

Information
Symbol
PORCN
Type
protein-coding
Description
porcupine O-acyltransferase
Entrez Gene ID
64840
Genome
hg19
Position
chrX:48,367,380-48,379,196
Genome
hg38
Position
chrX:48,508,992-48,520,808
MIM
300651 OMIM
HGNC
HGNC:17652 HGNC
Ensembl
ENSG00000102312 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 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
Category :
Search word :
Filtering :
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
Category :
Search word :
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
Category :
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
TypeID
SYNONYM DHOF
SYNONYM FODH
SYNONYM MG61
SYNONYM PORC
SYNONYM PPN
MIM 300651 OMIM
HGNC HGNC:17652 HGNC
Ensembl ENSG00000102312 Ensembl
AllianceGenome HGNC:17652
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
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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