ELAPOR1 endosome-lysosome associated apoptosis and autophagy regulator 1

Information
Symbol
ELAPOR1
Type
protein-coding
Description
endosome-lysosome associated apoptosis and autophagy regulator 1
Entrez Gene ID
57535
Genome
hg19
Position
chr1:109,656,737-109,749,403
Genome
hg38
Position
chr1:109,114,115-109,206,781
MIM
611298 OMIM
HGNC
HGNC:29618 HGNC
Ensembl
ENSG00000116299 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
not provided 3 0
Uncertain significance 0 130
Ranking
ClinVar
0
0
0
134
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
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
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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 EIG121
SYNONYM KIAA1324
MIM 611298 OMIM
HGNC HGNC:29618 HGNC
Ensembl ENSG00000116299 Ensembl
AllianceGenome HGNC:29618
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000369939.8 hg38 chr1 109,114,115 109,206,781 92,667
ENST00000529753.5 hg38 chr1 109,114,155 109,203,105 88,951
ENST00000369939.8 hg19 chr1 109,656,737 109,749,403 92,667
ENST00000529753.5 hg19 chr1 109,656,777 109,745,727 88,951
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