NR1H4 nuclear receptor subfamily 1 group H member 4

Information
Symbol
NR1H4
Type
protein-coding
Description
nuclear receptor subfamily 1 group H member 4
Entrez Gene ID
9971
Genome
hg19
Position
chr12:100,897,138-100,957,267
Genome
hg38
Position
chr12:100,503,360-100,563,489
MIM
603826 OMIM
HGNC
HGNC:7967 HGNC
Ensembl
ENSG00000012504 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 16
Benign 0 40
Likely benign 0 40
Conflicting classifications of pathogenicity 0 20
Uncertain significance 0 98
Ranking
ClinVar
0
0
32
174
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 BAR
SYNONYM FXR
SYNONYM HRR-1
SYNONYM HRR1
SYNONYM PFIC5
SYNONYM RIP14
MIM 603826 OMIM
HGNC HGNC:7967 HGNC
Ensembl ENSG00000012504 Ensembl
AllianceGenome HGNC:7967
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000392986.8 hg38 chr12 100,473,866 100,564,414 90,549
ENST00000549996.5 hg38 chr12 100,473,916 100,563,511 89,596
ENST00000649582.1 hg38 chr12 100,473,893 100,505,782 31,890
ENST00000648861.1 hg38 chr12 100,473,951 100,563,867 89,917
ENST00000188403.7 hg38 chr12 100,503,360 100,563,642 60,283
ENST00000548884.5 hg38 chr12 100,473,708 100,564,413 90,706
ENST00000546380.1 hg38 chr12 100,473,955 100,505,766 31,812
ENST00000551379.5 hg38 chr12 100,503,360 100,563,489 60,130
ENST00000548884.5 hg19 chr12 100,867,486 100,958,191 90,706
ENST00000392986.8 hg19 chr12 100,867,644 100,958,192 90,549
ENST00000649582.1 hg19 chr12 100,867,671 100,899,560 31,890
ENST00000549996.5 hg19 chr12 100,867,694 100,957,289 89,596
ENST00000648861.1 hg19 chr12 100,867,729 100,957,645 89,917
ENST00000546380.1 hg19 chr12 100,867,733 100,899,544 31,812
ENST00000551379.5 hg19 chr12 100,897,138 100,957,267 60,130
ENST00000188403.7 hg19 chr12 100,897,138 100,957,420 60,283
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