ECM1 extracellular matrix protein 1

Information
Symbol
ECM1
Type
protein-coding
Description
extracellular matrix protein 1
Entrez Gene ID
1893
Genome
hg19
Position
chr1:150,480,552-150,486,030
Genome
hg38
Position
chr1:150,508,076-150,513,554
MIM
602201 OMIM
HGNC
HGNC:3153 HGNC
Ensembl
ENSG00000143369 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 28
Likely pathogenic 0 14
Benign 0 62
Likely benign 0 42
Conflicting classifications of pathogenicity 0 2
not provided 0 10
Uncertain significance 0 78
Ranking
ClinVar
0
0
30
174
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 :
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 URBWD
MIM 602201 OMIM
HGNC HGNC:3153 HGNC
Ensembl ENSG00000143369 Ensembl
AllianceGenome HGNC:3153
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000369049.8 hg38 chr1 150,508,076 150,513,554 5,479
ENST00000369047.9 hg38 chr1 150,508,109 150,513,789 5,681
ENST00000346569.6 hg38 chr1 150,508,107 150,513,560 5,454
ENST00000369049.8 hg19 chr1 150,480,552 150,486,030 5,479
ENST00000346569.6 hg19 chr1 150,480,583 150,486,036 5,454
ENST00000369047.9 hg19 chr1 150,480,585 150,486,265 5,681
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