PQBP1 polyglutamine binding protein 1

Information
Symbol
PQBP1
Type
protein-coding
Description
polyglutamine binding protein 1
Entrez Gene ID
10084
Genome
hg19
Position
chrX:48,747,480-48,760,382
Genome
hg38
Position
chrX:48,890,197-48,903,105
MIM
300463 OMIM
HGNC
HGNC:9330 HGNC
Ensembl
ENSG00000102103 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 30
Likely pathogenic 0 26
Benign 0 35
Likely benign 0 70
Conflicting classifications of pathogenicity 0 24
not provided 6 0
Uncertain significance 0 160
Ranking
ClinVar
0
0
56
245
2
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 MRX2
SYNONYM MRX55
SYNONYM MRXS3
SYNONYM MRXS8
SYNONYM NPW38
SYNONYM RENS1
SYNONYM SHS
MIM 300463 OMIM
HGNC HGNC:9330 HGNC
Ensembl ENSG00000102103 Ensembl
AllianceGenome HGNC:9330
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000218224.9 hg38 chrX 48,897,938 48,903,142 5,205
ENST00000651767.1 hg38 chrX 48,890,197 48,903,105 12,909
ENST00000376566.8 hg38 chrX 48,897,912 48,903,142 5,231
ENST00000376563.6 hg38 chrX 48,897,952 48,903,143 5,192
ENST00000247140.8 hg38 chrX 48,897,940 48,903,142 5,203
ENST00000396763.6 hg38 chrX 48,898,260 48,903,143 4,884
ENST00000443648.6 hg38 chrX 48,898,041 48,903,143 5,103
ENST00000456306.2 hg38 chrX 48,898,318 48,903,143 4,826
ENST00000447146.7 hg38 chrX 48,897,930 48,903,143 5,214
ENST00000376566.8 hg19 chrX 48,755,195 48,760,419 5,225
ENST00000651767.1 hg19 chrX 48,747,480 48,760,382 12,903
ENST00000447146.7 hg19 chrX 48,755,213 48,760,420 5,208
ENST00000218224.9 hg19 chrX 48,755,221 48,760,419 5,199
ENST00000247140.8 hg19 chrX 48,755,223 48,760,419 5,197
ENST00000376563.6 hg19 chrX 48,755,235 48,760,420 5,186
ENST00000396763.6 hg19 chrX 48,755,543 48,760,420 4,878
ENST00000443648.6 hg19 chrX 48,755,324 48,760,420 5,097
ENST00000456306.2 hg19 chrX 48,755,601 48,760,420 4,820
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