TRPS1 transcriptional repressor GATA binding 1

Information
Symbol
TRPS1
Type
protein-coding
Description
transcriptional repressor GATA binding 1
Entrez Gene ID
7227
Genome
hg19
Position
chr8:116,420,724-116,681,202
Genome
hg38
Position
chr8:115,408,496-115,668,975
MIM
604386 OMIM
HGNC
HGNC:12340 HGNC
Ensembl
ENSG00000104447 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 5 202
Likely pathogenic 0 52
Benign 22 98
Likely benign 0 312
Conflicting classifications of pathogenicity 0 38
not provided 0 34
Uncertain significance 0 428
Ranking
ClinVar
0
0
110
928
26
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 GC79
SYNONYM LGCR
MIM 604386 OMIM
HGNC HGNC:12340 HGNC
Ensembl ENSG00000104447 Ensembl
AllianceGenome HGNC:12340
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000640765.1 hg38 chr8 115,408,496 115,668,012 259,517
ENST00000520276.5 hg38 chr8 115,413,922 115,668,007 254,086
ENST00000519076.5 hg38 chr8 115,413,814 115,620,070 206,257
ENST00000220888.9 hg38 chr8 115,412,549 115,668,702 256,154
ENST00000395715.8 hg38 chr8 115,408,496 115,668,975 260,480
ENST00000519674.1 hg38 chr8 115,515,190 115,668,903 153,714
ENST00000640765.1 hg19 chr8 116,420,724 116,680,239 259,516
ENST00000395715.8 hg19 chr8 116,420,724 116,681,202 260,479
ENST00000220888.9 hg19 chr8 116,424,777 116,680,929 256,153
ENST00000519076.5 hg19 chr8 116,426,042 116,632,297 206,256
ENST00000520276.5 hg19 chr8 116,426,150 116,680,234 254,085
ENST00000519674.1 hg19 chr8 116,527,417 116,681,130 153,714
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