PRPF40A pre-mRNA processing factor 40 homolog A

Information
Symbol
PRPF40A
Type
protein-coding
Description
pre-mRNA processing factor 40 homolog A
Entrez Gene ID
55660
Genome
hg19
Position
chr2:153,508,107-153,574,495
Genome
hg38
Position
chr2:152,651,593-152,717,981
MIM
612941 OMIM
HGNC
HGNC:16463 HGNC
Ensembl
ENSG00000196504 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Uncertain significance 0 38
Ranking
ClinVar
0
0
0
42
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 FBP-11
SYNONYM FBP11
SYNONYM FLAF1
SYNONYM FNBP3
SYNONYM HIP-10
SYNONYM HIP10
SYNONYM HYPA
SYNONYM NY-REN-6
SYNONYM Prp40
MIM 612941 OMIM
HGNC HGNC:16463 HGNC
Ensembl ENSG00000196504 Ensembl
AllianceGenome HGNC:16463
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000698773.1 hg38 chr2 152,655,541 152,717,439 61,899
ENST00000696382.1 hg38 chr2 152,656,306 152,718,012 61,707
ENST00000696381.1 hg38 chr2 152,656,306 152,717,435 61,130
ENST00000410080.8 hg38 chr2 152,651,593 152,717,981 66,389
ENST00000545856.8 hg38 chr2 152,651,732 152,717,461 65,730
ENST00000698772.1 hg38 chr2 152,651,732 152,717,461 65,730
ENST00000410080.8 hg19 chr2 153,508,107 153,574,495 66,389
ENST00000545856.8 hg19 chr2 153,508,246 153,573,975 65,730
ENST00000698772.1 hg19 chr2 153,508,246 153,573,975 65,730
ENST00000698773.1 hg19 chr2 153,512,055 153,573,953 61,899
ENST00000696381.1 hg19 chr2 153,512,820 153,573,949 61,130
ENST00000696382.1 hg19 chr2 153,512,820 153,574,526 61,707
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