MUC1 mucin 1, cell surface associated

Information
Symbol
MUC1
Type
protein-coding
Description
mucin 1, cell surface associated
Entrez Gene ID
4582
Genome
hg19
Position
chr1:155,158,300-155,162,706
Genome
hg38
Position
chr1:155,185,824-155,192,915
MIM
158340 OMIM
HGNC
HGNC:7508 HGNC
Ensembl
ENSG00000185499 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 2
Likely pathogenic 0 6
Benign 0 4
Likely benign 0 24
Conflicting classifications of pathogenicity 0 2
not provided 0 2
Uncertain significance 0 96
Ranking
ClinVar
0
0
0
126
6
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 ADMCKD
SYNONYM ADMCKD1
SYNONYM ADTKD2
SYNONYM CA 15-3
SYNONYM CD227
SYNONYM Ca15-3
SYNONYM EMA
SYNONYM H23AG
SYNONYM KL-6
SYNONYM MAM6
SYNONYM MCD
SYNONYM MCKD
SYNONYM MCKD1
SYNONYM MUC-1
SYNONYM MUC-1/SEC
SYNONYM MUC-1/X
SYNONYM MUC1/ZD
SYNONYM PEM
SYNONYM PEMT
SYNONYM PUM
MIM 158340 OMIM
HGNC HGNC:7508 HGNC
Ensembl ENSG00000185499 Ensembl
AllianceGenome HGNC:7508
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000615517.4 hg38 chr1 155,185,826 155,192,915 7,090
ENST00000337604.6 hg38 chr1 155,186,123 155,192,868 6,746
ENST00000343256.9 hg38 chr1 155,186,123 155,192,867 6,745
ENST00000620103.4 hg38 chr1 155,185,824 155,192,915 7,092
ENST00000368389.6 hg38 chr1 155,186,123 155,192,867 6,745
ENST00000471283.5 hg38 chr1 155,186,123 155,192,867 6,745
ENST00000338684.9 hg38 chr1 155,185,826 155,192,915 7,090
ENST00000368392.7 hg38 chr1 155,185,948 155,192,893 6,946
ENST00000368393.7 hg38 chr1 155,185,948 155,192,893 6,946
ENST00000368390.7 hg38 chr1 155,186,123 155,192,867 6,745
ENST00000368398.7 hg38 chr1 155,186,123 155,192,867 6,745
ENST00000368396.8 hg38 chr1 155,186,123 155,192,867 6,745
ENST00000610359.4 hg38 chr1 155,185,826 155,192,915 7,090
ENST00000342482.8 hg38 chr1 155,186,123 155,192,867 6,745
ENST00000457295.6 hg38 chr1 155,185,948 155,192,893 6,946
ENST00000438413.5 hg38 chr1 155,185,948 155,192,893 6,946
ENST00000338684.9 hg19 chr1 155,158,302 155,162,706 4,405
ENST00000342482.8 hg19 chr1 155,158,599 155,162,658 4,060
ENST00000337604.6 hg19 chr1 155,158,599 155,162,659 4,061
ENST00000471283.5 hg19 chr1 155,158,599 155,162,658 4,060
ENST00000368398.7 hg19 chr1 155,158,599 155,162,658 4,060
ENST00000368396.8 hg19 chr1 155,158,599 155,162,658 4,060
ENST00000368390.7 hg19 chr1 155,158,599 155,162,658 4,060
ENST00000368389.6 hg19 chr1 155,158,599 155,162,658 4,060
ENST00000343256.9 hg19 chr1 155,158,599 155,162,658 4,060
ENST00000620103.4 hg19 chr1 155,158,300 155,162,706 4,407
ENST00000457295.6 hg19 chr1 155,158,424 155,162,684 4,261
ENST00000438413.5 hg19 chr1 155,158,424 155,162,684 4,261
ENST00000368393.7 hg19 chr1 155,158,424 155,162,684 4,261
ENST00000368392.7 hg19 chr1 155,158,424 155,162,684 4,261
ENST00000615517.4 hg19 chr1 155,158,302 155,162,706 4,405
ENST00000610359.4 hg19 chr1 155,158,302 155,162,706 4,405
KeyValue
strand-
UniProtTSG
start155,158,299
Gene SymbolMUC1
Entrez GeneId4,582
Chr Band1q21
end155,162,705
chrchr1
Namemucin 1, transmembrane
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