PAX5 paired box 5

Information
Symbol
PAX5
Type
protein-coding
Description
paired box 5
Entrez Gene ID
5079
Genome
hg19
Position
chr9:36,833,266-37,034,265
Genome
hg38
Position
chr9:36,833,269-37,034,268
MIM
167414 OMIM
HGNC
HGNC:8619 HGNC
Ensembl
ENSG00000196092 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 30
Benign 0 80
Likely benign 0 120
Conflicting classifications of pathogenicity 0 4
not provided 21 4
risk factor 0 2
Uncertain significance 3 106
Ranking
ClinVar
0
0
58
264
14
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 ALL3
SYNONYM BSAP
SYNONYM PAX-5
MIM 167414 OMIM
HGNC HGNC:8619 HGNC
Ensembl ENSG00000196092 Ensembl
AllianceGenome HGNC:8619
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000522003.5 hg38 chr9 36,840,551 37,034,031 193,481
ENST00000651550.1 hg38 chr9 36,833,272 37,025,748 192,477
ENST00000414447.5 hg38 chr9 36,840,551 37,034,031 193,481
ENST00000377853.6 hg38 chr9 36,840,172 37,034,041 193,870
ENST00000377852.7 hg38 chr9 36,833,269 37,034,268 201,000
ENST00000358127.9 hg38 chr9 36,833,269 37,034,268 201,000
ENST00000523145.5 hg38 chr9 36,840,551 37,034,031 193,481
ENST00000520281.5 hg38 chr9 36,840,551 37,034,031 193,481
ENST00000446742.5 hg38 chr9 36,840,551 37,034,031 193,481
ENST00000520154.6 hg38 chr9 36,840,172 37,034,185 194,014
ENST00000523241.6 hg38 chr9 36,833,269 37,034,268 201,000
ENST00000377847.6 hg38 chr9 36,840,551 37,034,031 193,481
ENST00000377852.7 hg19 chr9 36,833,266 37,034,265 201,000
ENST00000358127.9 hg19 chr9 36,833,266 37,034,265 201,000
ENST00000522003.5 hg19 chr9 36,840,548 37,034,028 193,481
ENST00000377847.6 hg19 chr9 36,840,548 37,034,028 193,481
ENST00000377853.6 hg19 chr9 36,840,169 37,034,038 193,870
ENST00000520154.6 hg19 chr9 36,840,169 37,034,182 194,014
ENST00000414447.5 hg19 chr9 36,840,548 37,034,028 193,481
ENST00000523145.5 hg19 chr9 36,840,548 37,034,028 193,481
ENST00000446742.5 hg19 chr9 36,840,548 37,034,028 193,481
ENST00000520281.5 hg19 chr9 36,840,548 37,034,028 193,481
ENST00000651550.1 hg19 chr9 36,833,269 37,025,745 192,477
ENST00000523241.6 hg19 chr9 36,833,266 37,034,265 201,000
KeyValue
strand-
UniProtOG
start36,833,271
VogelsteinTSG
Gene SymbolPAX5
Entrez GeneId5,079
Chr Band9p13
end37,034,475
chrchr9
Namepaired box gene 5 (B-cell lineage specific activator protein)
Genome browser