NPAS1 neuronal PAS domain protein 1

Information
Symbol
NPAS1
Type
protein-coding
Description
neuronal PAS domain protein 1
Entrez Gene ID
4861
Genome
hg19
Position
chr19:47,523,094-47,549,033
Genome
hg38
Position
chr19:47,019,837-47,045,775
MIM
603346 OMIM
HGNC
HGNC:7894 HGNC
Ensembl
ENSG00000130751 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 60
Ranking
ClinVar
0
0
0
62
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 MOP5
SYNONYM PASD5
SYNONYM bHLHe11
MIM 603346 OMIM
HGNC HGNC:7894 HGNC
Ensembl ENSG00000130751 Ensembl
AllianceGenome HGNC:7894
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000449844.6 hg38 chr19 47,020,886 47,045,759 24,874
ENST00000439365.6 hg38 chr19 47,035,329 47,045,758 10,430
ENST00000602212.6 hg38 chr19 47,019,837 47,045,775 25,939
ENST00000602189.5 hg38 chr19 47,019,849 47,045,727 25,879
ENST00000602212.6 hg19 chr19 47,523,094 47,549,033 25,940
ENST00000602189.5 hg19 chr19 47,523,106 47,548,985 25,880
ENST00000449844.6 hg19 chr19 47,524,143 47,549,017 24,875
ENST00000439365.6 hg19 chr19 47,538,587 47,549,016 10,430
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