PAAF1 proteasomal ATPase associated factor 1

Information
Symbol
PAAF1
Type
protein-coding
Description
proteasomal ATPase associated factor 1
Entrez Gene ID
80227
Genome
hg19
Position
chr11:73,599,839-73,638,770
Genome
hg38
Position
chr11:73,888,794-73,927,725
MIM
619772 OMIM
HGNC
HGNC:25687 HGNC
Ensembl
ENSG00000175575 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 44
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 :
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 PAAF
SYNONYM Rpn14
SYNONYM WDR71
MIM 619772 OMIM
HGNC HGNC:25687 HGNC
Ensembl ENSG00000175575 Ensembl
AllianceGenome HGNC:25687
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000535604.5 hg38 chr11 73,876,995 73,927,613 50,619
ENST00000536003.5 hg38 chr11 73,876,997 73,927,728 50,732
ENST00000541951.5 hg38 chr11 73,876,699 73,927,570 50,872
ENST00000544909.5 hg38 chr11 73,888,794 73,927,725 38,932
ENST00000376384.9 hg38 chr11 73,887,063 73,927,734 40,672
ENST00000544552.5 hg38 chr11 73,877,028 73,927,745 50,718
ENST00000310571.8 hg38 chr11 73,876,999 73,931,114 54,116
ENST00000541951.5 hg19 chr11 73,587,744 73,638,615 50,872
ENST00000535604.5 hg19 chr11 73,588,040 73,638,658 50,619
ENST00000536003.5 hg19 chr11 73,588,042 73,638,773 50,732
ENST00000310571.8 hg19 chr11 73,588,044 73,642,159 54,116
ENST00000544552.5 hg19 chr11 73,588,073 73,638,790 50,718
ENST00000376384.9 hg19 chr11 73,598,108 73,638,779 40,672
ENST00000544909.5 hg19 chr11 73,599,839 73,638,770 38,932
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