MBTPS2 membrane bound transcription factor peptidase, site 2

Information
Symbol
MBTPS2
Type
protein-coding
Description
membrane bound transcription factor peptidase, site 2
Entrez Gene ID
51360
Genome
hg19
Position
chrX:21,857,735-21,903,541
Genome
hg38
Position
chrX:21,839,617-21,885,423
MIM
300294 OMIM
HGNC
HGNC:15455 HGNC
Ensembl
ENSG00000012174 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 24
Likely pathogenic 0 6
Benign 0 72
Likely benign 0 90
Conflicting classifications of pathogenicity 0 10
not provided 7 0
Uncertain significance 0 164
Ranking
ClinVar
0
0
38
270
24
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 BRESEK
SYNONYM IFAP
SYNONYM KFSD
SYNONYM KFSDX
SYNONYM OI19
SYNONYM OLMSX
SYNONYM S2P
MIM 300294 OMIM
HGNC HGNC:15455 HGNC
Ensembl ENSG00000012174 Ensembl
AllianceGenome HGNC:15455
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000379484.10 hg38 chrX 21,839,617 21,885,423 45,807
ENST00000365779.2 hg38 chrX 21,839,654 21,873,084 33,431
ENST00000379484.10 hg19 chrX 21,857,735 21,903,541 45,807
ENST00000365779.2 hg19 chrX 21,857,772 21,891,202 33,431
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