FAM47E family with sequence similarity 47 member E

Information
Symbol
FAM47E
Type
protein-coding
Description
family with sequence similarity 47 member E
Entrez Gene ID
100129583
Genome
hg19
Position
chr4:77,172,874-77,204,936
Genome
hg38
Position
chr4:76,251,721-76,283,783
HGNC
HGNC:34343 HGNC
Ensembl
ENSG00000189157 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 8
not provided 2 0
Uncertain significance 0 48
Ranking
ClinVar
0
0
0
56
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
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
HGNC HGNC:34343 HGNC
Ensembl ENSG00000189157 Ensembl
AllianceGenome HGNC:34343
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000424749.7 hg38 chr4 76,251,721 76,283,783 32,063
ENST00000502320.2 hg38 chr4 76,251,733 76,283,779 32,047
ENST00000510197.5 hg38 chr4 76,214,040 76,283,780 69,741
ENST00000510328.5 hg38 chr4 76,251,700 76,278,655 26,956
ENST00000510197.5 hg19 chr4 77,135,193 77,204,933 69,741
ENST00000510328.5 hg19 chr4 77,172,853 77,199,808 26,956
ENST00000424749.7 hg19 chr4 77,172,874 77,204,936 32,063
ENST00000502320.2 hg19 chr4 77,172,886 77,204,932 32,047
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