RP9 RP9 pre-mRNA splicing factor

Information
Symbol
RP9
Type
protein-coding
Description
RP9 pre-mRNA splicing factor
Entrez Gene ID
6100
Genome
hg19
Position
chr7:33,134,409-33,149,016
Genome
hg38
Position
chr7:33,094,797-33,109,404
MIM
607331 OMIM
HGNC
HGNC:10288 HGNC
Ensembl
ENSG00000164610 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 26
Likely benign 0 68
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 146
Ranking
ClinVar
0
0
24
212
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 :
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 PAP-1
SYNONYM PAP1
MIM 607331 OMIM
HGNC HGNC:10288 HGNC
Ensembl ENSG00000164610 Ensembl
AllianceGenome HGNC:10288
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000684207.1 hg38 chr7 33,095,330 33,109,398 14,069
ENST00000297157.8 hg38 chr7 33,094,797 33,109,404 14,608
ENST00000297157.8 hg19 chr7 33,134,409 33,149,016 14,608
ENST00000684207.1 hg19 chr7 33,134,942 33,149,010 14,069
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