ESRP2 epithelial splicing regulatory protein 2

Information
Symbol
ESRP2
Type
protein-coding
Description
epithelial splicing regulatory protein 2
Entrez Gene ID
80004
Genome
hg19
Position
chr16:68,263,014-68,270,035
Genome
hg38
Position
chr16:68,229,111-68,236,132
MIM
612960 OMIM
HGNC
HGNC:26152 HGNC
Ensembl
ENSG00000103067 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 4
Benign 0 14
Likely benign 0 24
Uncertain significance 0 100
Ranking
ClinVar
0
0
6
128
8
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 :
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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 RBM35B
MIM 612960 OMIM
HGNC HGNC:26152 HGNC
Ensembl ENSG00000103067 Ensembl
AllianceGenome HGNC:26152
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000473183.7 hg38 chr16 68,229,033 68,236,127 7,095
ENST00000565858.5 hg38 chr16 68,229,111 68,236,132 7,022
ENST00000473183.7 hg19 chr16 68,262,936 68,270,030 7,095
ENST00000565858.5 hg19 chr16 68,263,014 68,270,035 7,022
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