SERPINB8 serpin family B member 8

Information
Symbol
SERPINB8
Type
protein-coding
Description
serpin family B member 8
Entrez Gene ID
5271
Genome
hg19
Position
chr18:61,637,315-61,656,608
Genome
hg38
Position
chr18:63,970,081-63,989,374
MIM
601697 OMIM
HGNC
HGNC:8952 HGNC
Ensembl
ENSG00000166401 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 2
Benign 0 42
Likely benign 0 24
Uncertain significance 0 70
Ranking
ClinVar
0
0
20
116
4
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
Category :
Search word :
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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
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 C18orf53
SYNONYM CAP2
SYNONYM PI-8
SYNONYM PI8
SYNONYM PSS5
MIM 601697 OMIM
HGNC HGNC:8952 HGNC
Ensembl ENSG00000166401 Ensembl
AllianceGenome HGNC:8952
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000636430.1 hg38 chr18 63,970,114 64,019,779 49,666
ENST00000542677.5 hg38 chr18 63,970,029 63,989,371 19,343
ENST00000353706.6 hg38 chr18 63,970,029 63,989,371 19,343
ENST00000397988.7 hg38 chr18 63,970,119 63,986,653 16,535
ENST00000397985.7 hg38 chr18 63,970,081 63,989,374 19,294
ENST00000353706.6 hg19 chr18 61,637,263 61,656,605 19,343
ENST00000542677.5 hg19 chr18 61,637,263 61,656,605 19,343
ENST00000397985.7 hg19 chr18 61,637,315 61,656,608 19,294
ENST00000636430.1 hg19 chr18 61,637,348 61,687,013 49,666
ENST00000397988.7 hg19 chr18 61,637,353 61,653,887 16,535
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