GPBP1 GC-rich promoter binding protein 1

Information
Symbol
GPBP1
Type
protein-coding
Description
GC-rich promoter binding protein 1
Entrez Gene ID
65056
Genome
hg19
Position
chr5:56,469,775-56,560,506
Genome
hg38
Position
chr5:57,173,948-57,264,679
MIM
608412 OMIM
HGNC
HGNC:29520 HGNC
Ensembl
ENSG00000062194 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 46
Ranking
ClinVar
0
0
0
46
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
[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 GPBP
SYNONYM SSH6
SYNONYM VASCULIN
MIM 608412 OMIM
HGNC HGNC:29520 HGNC
Ensembl ENSG00000062194 Ensembl
AllianceGenome HGNC:29520
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000506184.7 hg38 chr5 57,174,059 57,264,673 90,615
ENST00000511209.5 hg38 chr5 57,175,946 57,263,085 87,140
ENST00000514387.6 hg38 chr5 57,174,049 57,263,587 89,539
ENST00000264779.6 hg38 chr5 57,214,121 57,263,085 48,965
ENST00000424459.7 hg38 chr5 57,173,948 57,264,679 90,732
ENST00000424459.7 hg19 chr5 56,469,775 56,560,506 90,732
ENST00000514387.6 hg19 chr5 56,469,876 56,559,414 89,539
ENST00000506184.7 hg19 chr5 56,469,886 56,560,500 90,615
ENST00000511209.5 hg19 chr5 56,471,773 56,558,912 87,140
ENST00000264779.6 hg19 chr5 56,509,948 56,558,912 48,965
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