RBPJL recombination signal binding protein for immunoglobulin kappa J region like

Information
Symbol
RBPJL
Type
protein-coding
Description
recombination signal binding protein for immunoglobulin kappa J region like
Entrez Gene ID
11317
Genome
hg19
Position
chr20:43,935,480-43,946,464
Genome
hg38
Position
chr20:45,306,840-45,317,824
MIM
616104 OMIM
HGNC
HGNC:13761 HGNC
Ensembl
ENSG00000124232 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 14
not provided 1 0
risk factor 0 2
Uncertain significance 0 60
Ranking
ClinVar
0
0
0
66
10
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 RBPL
SYNONYM RBPSUHL
SYNONYM SUHL
MIM 616104 OMIM
HGNC HGNC:13761 HGNC
Ensembl ENSG00000124232 Ensembl
AllianceGenome HGNC:13761
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000372741.7 hg38 chr20 45,306,851 45,316,959 10,109
ENST00000372743.5 hg38 chr20 45,306,851 45,316,959 10,109
ENST00000343694.8 hg38 chr20 45,306,840 45,317,824 10,985
ENST00000343694.8 hg19 chr20 43,935,480 43,946,464 10,985
ENST00000372741.7 hg19 chr20 43,935,491 43,945,599 10,109
ENST00000372743.5 hg19 chr20 43,935,491 43,945,599 10,109
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