SCUBE2 signal peptide, CUB domain and EGF like domain containing 2

Information
Symbol
SCUBE2
Type
protein-coding
Description
signal peptide, CUB domain and EGF like domain containing 2
Entrez Gene ID
57758
Genome
hg19
Position
chr11:9,041,023-9,113,146
Genome
hg38
Position
chr11:9,019,476-9,091,599
MIM
611747 OMIM
HGNC
HGNC:30425 HGNC
Ensembl
ENSG00000175356 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 2
Likely benign 0 14
Uncertain significance 0 108
Ranking
ClinVar
0
0
0
126
0
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 :
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 CEGB1
SYNONYM CEGF1
SYNONYM CEGP1
SYNONYM scube/You
MIM 611747 OMIM
HGNC HGNC:30425 HGNC
Ensembl ENSG00000175356 Ensembl
AllianceGenome HGNC:30425
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000520467.5 hg38 chr11 9,020,884 9,091,599 70,716
ENST00000309263.7 hg38 chr11 9,020,391 9,091,601 71,211
ENST00000649792.2 hg38 chr11 9,019,476 9,091,599 72,124
ENST00000450649.6 hg38 chr11 9,020,575 9,091,546 70,972
ENST00000649792.2 hg19 chr11 9,041,023 9,113,146 72,124
ENST00000309263.7 hg19 chr11 9,041,938 9,113,148 71,211
ENST00000450649.6 hg19 chr11 9,042,122 9,113,093 70,972
ENST00000520467.5 hg19 chr11 9,042,431 9,113,146 70,716
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