PTBP1 polypyrimidine tract binding protein 1

Information
Symbol
PTBP1
Type
protein-coding
Description
polypyrimidine tract binding protein 1
Entrez Gene ID
5725
Genome
hg19
Position
chr19:798,428-812,275
Genome
hg38
Position
chr19:798,428-812,275
MIM
600693 OMIM
HGNC
HGNC:9583 HGNC
Ensembl
ENSG00000011304 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 20
Likely benign 0 28
Uncertain significance 0 40
Ranking
ClinVar
0
0
4
78
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
[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 HNRNP-I
SYNONYM HNRNPI
SYNONYM HNRPI
SYNONYM PTB
SYNONYM PTB-1
SYNONYM PTB-T
SYNONYM PTB2
SYNONYM PTB3
SYNONYM PTB4
SYNONYM pPTB
MIM 600693 OMIM
HGNC HGNC:9583 HGNC
Ensembl ENSG00000011304 Ensembl
AllianceGenome HGNC:9583
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000635647.1 hg38 chr19 797,075 812,327 15,253
ENST00000627714.2 hg38 chr19 797,392 812,327 14,936
ENST00000349038.8 hg38 chr19 797,425 812,312 14,888
ENST00000679114.1 hg38 chr19 798,428 812,275 13,848
ENST00000350092.8 hg38 chr19 799,406 812,222 12,817
ENST00000394601.8 hg38 chr19 797,452 812,312 14,861
ENST00000356948.11 hg38 chr19 797,452 812,312 14,861
ENST00000349038.8 hg19 chr19 797,425 812,312 14,888
ENST00000350092.8 hg19 chr19 799,406 812,222 12,817
ENST00000356948.11 hg19 chr19 797,452 812,312 14,861
ENST00000394601.8 hg19 chr19 797,452 812,312 14,861
ENST00000635647.1 hg19 chr19 797,075 812,327 15,253
ENST00000679114.1 hg19 chr19 798,428 812,275 13,848
ENST00000627714.2 hg19 chr19 797,392 812,327 14,936
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