CTSC cathepsin C

Information
Symbol
CTSC
Type
protein-coding
Description
cathepsin C
Entrez Gene ID
1075
Genome
hg19
Position
chr11:88,026,760-88,070,904
Genome
hg38
Position
chr11:88,293,592-88,337,736
MIM
602365 OMIM
HGNC
HGNC:2528 HGNC
Ensembl
ENSG00000109861 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 30 120
Likely pathogenic 0 32
Benign 0 92
Likely benign 0 368
Conflicting classifications of pathogenicity 0 34
no classification for the single variant 0 8
Uncertain significance 0 308
Ranking
ClinVar
0
0
68
826
10
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 CPPI
SYNONYM DPP-I
SYNONYM DPP1
SYNONYM DPPI
SYNONYM HMS
SYNONYM JP
SYNONYM JPD
SYNONYM PALS
SYNONYM PDON1
SYNONYM PLS
MIM 602365 OMIM
HGNC HGNC:2528 HGNC
Ensembl ENSG00000109861 Ensembl
AllianceGenome HGNC:2528
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000679199.1 hg38 chr11 88,315,253 88,337,736 22,484
ENST00000678464.1 hg38 chr11 88,293,762 88,337,736 43,975
ENST00000529974.2 hg38 chr11 88,326,086 88,337,733 11,648
ENST00000393301.5 hg38 chr11 88,326,088 88,337,725 11,638
ENST00000678506.1 hg38 chr11 88,293,592 88,337,772 44,181
ENST00000527018.6 hg38 chr11 88,295,563 88,337,737 42,175
ENST00000524463.6 hg38 chr11 88,320,811 88,337,780 16,970
ENST00000678915.1 hg38 chr11 88,293,943 88,337,780 43,838
ENST00000528020.2 hg38 chr11 88,326,022 88,337,723 11,702
ENST00000677976.1 hg38 chr11 88,326,088 88,337,722 11,635
ENST00000227266.10 hg38 chr11 88,293,592 88,337,736 44,145
ENST00000679224.1 hg38 chr11 88,292,494 88,337,749 45,256
ENST00000677106.1 hg38 chr11 88,326,140 88,358,995 32,856
ENST00000678464.1 hg19 chr11 88,026,930 88,070,904 43,975
ENST00000393301.5 hg19 chr11 88,059,256 88,070,893 11,638
ENST00000227266.10 hg19 chr11 88,026,760 88,070,904 44,145
ENST00000677106.1 hg19 chr11 88,059,308 88,092,163 32,856
ENST00000527018.6 hg19 chr11 88,028,731 88,070,905 42,175
ENST00000678506.1 hg19 chr11 88,026,760 88,070,940 44,181
ENST00000678915.1 hg19 chr11 88,027,111 88,070,948 43,838
ENST00000679199.1 hg19 chr11 88,048,421 88,070,904 22,484
ENST00000524463.6 hg19 chr11 88,053,979 88,070,948 16,970
ENST00000528020.2 hg19 chr11 88,059,190 88,070,891 11,702
ENST00000529974.2 hg19 chr11 88,059,254 88,070,901 11,648
ENST00000677976.1 hg19 chr11 88,059,256 88,070,890 11,635
ENST00000679224.1 hg19 chr11 88,025,662 88,070,917 45,256
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