SPHK1 sphingosine kinase 1

Information
Symbol
SPHK1
Type
protein-coding
Description
sphingosine kinase 1
Entrez Gene ID
8877
Genome
hg19
Position
chr17:74,380,731-74,383,936
Genome
hg38
Position
chr17:76,384,650-76,387,855
MIM
603730 OMIM
HGNC
HGNC:11240 HGNC
Ensembl
ENSG00000176170 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 4
Uncertain significance 0 42
Ranking
ClinVar
0
0
0
54
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 SPHK
MIM 603730 OMIM
HGNC HGNC:11240 HGNC
Ensembl ENSG00000176170 Ensembl
AllianceGenome HGNC:11240
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000323374.8 hg38 chr17 76,384,650 76,387,855 3,206
ENST00000592299.6 hg38 chr17 76,384,609 76,387,855 3,247
ENST00000545180.5 hg38 chr17 76,376,661 76,387,860 11,200
ENST00000392496.3 hg38 chr17 76,385,292 76,387,857 2,566
ENST00000590959.5 hg38 chr17 76,384,621 76,387,860 3,240
ENST00000545180.5 hg19 chr17 74,372,742 74,383,941 11,200
ENST00000592299.6 hg19 chr17 74,380,690 74,383,936 3,247
ENST00000590959.5 hg19 chr17 74,380,702 74,383,941 3,240
ENST00000323374.8 hg19 chr17 74,380,731 74,383,936 3,206
ENST00000392496.3 hg19 chr17 74,381,373 74,383,938 2,566
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