RGD:8570519 Rat Genome Database

Variant: RGD:8570519 - Homo sapiens

RGD ID:

8570519

RS ID:

rs398123008

ClinVar ID:

CV48177

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DGKE LOC127887383

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	17	54,912,283
GRCh38	17	56,834,922

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_033888.1:g.5824C>T NC_000017.11:g.56834922C>T NC_000017.10:g.54912283C>T NP_003638.1:p.Gln43Ter More...	05/23/2013	2kb upstream variant\|neargene-5\|nonsense	pathogenic	Nephrotic syndrome, type 7; NEPHROTIC SYNDROME, TYPE 7, WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS

Disease Annotations Click to see Annotation Detail View

nephrotic syndrome type 7 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	DGKE
Accession:	XM_011525395
Location:	EXON
Amino Acid Prediction:	Q to * (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPSVGQTGGKVSSLEKMEAERRPAPGSPSEGLFADGHLILWTLCSVLLPVFITFWCSLRSRRQLHRRDIFRKSKHGW RDTDLFSQPTYCCVCAQHILQGAFCDCCGLRVDEGCLRKADKRFQCKEIMLKNDTKVLDAMPHHWIRGNVPLCSYCMVCK QQCGCQPKLCDYRCIWCQKTVHDECMKNSLKNEKCDFGEFKNLIIPPSYLTSINQMRKDKKTDYEVLASKLGKQWTPLII LANSRSGTNMGEGLLGEFRILLNPVQVFDVTKTPPIKALQLCTLLPYYSARVLVCGGDGTVGWVLDAVDDMKIKGQEKYI PQVAVLPLGTGNDLSNTLGWGTGYAGEIPVAQVLRNVMEADGIKLDRWKVQVTNKGYYNLRKPKEFTMNNYFSVGPDALM ALNFHAHREKAPSLFSSRILNKAVYLFYGTKDCLVQECKDLNKKVELELDGERVALPSLEGIIVLNIGYWGGGCRLWEGM GDETYPLARHDDGLLEVVGVYGSFHCAQIQVKLANPFRIGQAHTVRWFMAHAAGHCTLAARVG

Gene Symbol:	DGKE
Accession:	XM_011525396
Location:	EXON
Amino Acid Prediction:	Q to * (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPSVGQTGGKVSSLEKMEAERRPAPGSPSEGLFADGHLILWTLCSVLLPVFITFWCSLRSRRQLHRRDIFRKSKHGW RDTDLFSQPTYCCVCAQHILQGAFCDCCGLRVDEGCLRKADKRFQCKEIMLKNDTKVLDAMPHHWIRGNVPLCSYCMVCK QQCGCQPKLCDYRCIWCQKTVHDECMKNSLKNEKCDFGEFKNLIIPPSYLTSINQMRKDKKTDYEVLASKLGKQWTPLII LANSRSGTNMGEGLLGEFRILLNPVQVFDVTKTPPIKALQLCTLLPYYSARVLVCGGDGTVGWVLDAVDDMKIKGQEKYI PQVAVLPLGTGNDLSNTLGWGTGYAGEIPVAQVLRNVMEADGIKLDRWKVQVTNKGYYNLRKPKEFTMNNYFSVGPDALM ALNFHAHREKAPSLFSSRILNKAVYLFYGTKDCLVQECKDLNKKVENWMVSE

Gene Symbol:	DGKE
Accession:	XM_017025244
Location:	EXON
Amino Acid Prediction:	Q to * (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPSVGQTGGKVSSLEKMEAERRPAPGSPSEGLFADGHLILWTLCSVLLPVFITFWCSLRSRRQLHRRDIFRKSKHGW RDTDLFSQPTYCCVCAQHILQGAFCDCCGLRVDEGCLRKADKRFQCKEIMLKNDTKVLDAMPHHWIRGNVPLCSYCMVCK QQCGCQPKLCDYRCIWCQKTVHDECMKNSLKNEKCDFGEFKNLIIPPSYLTSINQMRKDKKTDYEVLASKLGKQWTPLII LANSRSGTNMGEGLLGEFRILLNPVQVFDVTKTPPIKALQLCTLLPYYSARVLVCGGDGTVGWVLDAVDDMKIKGQEKYI PQVAVLPLGTGNDLSNTLGWGTGYAGEIPVAQVLRNVMEADGIKLDRWKVQVTNKGYYNLRKPKEFTMNNYFSVGPDALM ALNFHAHREKAPSLFSSRILNKLELDGERVALPSLEGIIVLNIGYWGGGCRLWEGMGDETYPLARHDDGLLEVVGVYGSF HCAQIQVKLANPFRIGQAHTVRLILKCSMMPMQVDGEPWAQGPCTVTITHKTHAMMLYFSGEQTDDDISSTSDQEDIKAT E

Gene Symbol:	DGKE
Accession:	NM_003647
Location:	EXON
Amino Acid Prediction:	Q to * (nonsynonymous)
Amino Acid Position:	43

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAERRPAPGSPSEGLFADGHLILWTLCSVLLPVFITFWCSLRSRRQLHRRDIFRKSKHGWRDTDLFSQPTYCCVCAQH ILQGAFCDCCGLRVDEGCLRKADKRFQCKEIMLKNDTKVLDAMPHHWIRGNVPLCSYCMVCKQQCGCQPKLCDYRCIWCQ KTVHDECMKNSLKNEKCDFGEFKNLIIPPSYLTSINQMRKDKKTDYEVLASKLGKQWTPLIILANSRSGTNMGEGLLGEF RILLNPVQVFDVTKTPPIKALQLCTLLPYYSARVLVCGGDGTVGWVLDAVDDMKIKGQEKYIPQVAVLPLGTGNDLSNTL GWGTGYAGEIPVAQVLRNVMEADGIKLDRWKVQVTNKGYYNLRKPKEFTMNNYFSVGPDALMALNFHAHREKAPSLFSSR ILNKAVYLFYGTKDCLVQECKDLNKKVELELDGERVALPSLEGIIVLNIGYWGGGCRLWEGMGDETYPLARHDDGLLEVV GVYGSFHCAQIQVKLANPFRIGQAHTVRLILKCSMMPMQVDGEPWAQGPCTVTITHKTHAMMLYFSGEQTDDDISSTSDQ EDIKATE

Gene Symbol:	DGKE
Accession:	XM_017025243
Location:	EXON
Amino Acid Prediction:	Q to * (nonsynonymous)
Amino Acid Position:	43

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAERRPAPGSPSEGLFADGHLILWTLCSVLLPVFITFWCSLRSRRQLHRRDIFRKSKHGWRDTDLFSQPTYCCVCAQH ILQGAFCDCCGLRVDEGCLRKADKRFQCKEIMLKNDTKVLDAMPHHWIRGNVPLCSYCMVCKQQCGCQPKLCDYRCIWCQ KTVHDECMKNSLKNEKCDFGEFKNLIIPPSYLTSINQMRKDKKTDYEVLASKLGKQWTPLIILANSRSGTNMGEGLLGEF RILLNPVQVFDVTKTPPIKALQLCTLLPYYSARVLVCGGDGTVGWVLDAVDDMKIKVLVFKNYYRRTSKINILYIYIYIW VLLLFCCCCCFFLRYSLALSPRLECSGADTANCNLHFSGSSHPPTSAYKVAETIGVRYHAWLIFVFFVETGFHHVAWAAV KLLGSSDPPTLASQSAGITWGQEKYIPQVAVLPLGTGNDLSNTLGWGTGYAGEIPVAQVLRNVMEADGIKLDRWKVQVTN KGYYNLRKPKEFTMNNYFSVGPDALMALNFHAHREKAPSLFSSRILNKAVYLFYGTKDCLVQECKDLNKKVELELDGERV ALPSLEGIIVLNIGYWGGGCRLWEGMGDETYPLARHDDGLLEVVGVYGSFHCAQIQVKLANPFRIGQAHTVRLILKCSMM PMQVDGEPWAQGPCTVTITHKTHAMMLYFSGEQTDDDISSTSDQEDIKATE

Gene Symbol:	DGKE
Accession:	XM_011525394
Location:	EXON
Amino Acid Prediction:	Q to * (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPSVGQTGGKVSSLEKMEAERRPAPGSPSEGLFADGHLILWTLCSVLLPVFITFWCSLRSRRQLHRRDIFRKSKHGW RDTDLFSQPTYCCVCAQHILQGAFCDCCGLRVDEGCLRKADKRFQCKEIMLKNDTKVLDAMPHHWIRGNVPLCSYCMVCK QQCGCQPKLCDYRCIWCQKTVHDECMKNSLKNEKCDFGEFKNLIIPPSYLTSINQMRKDKKTDYEVLASKLGKQWTPLII LANSRSGTNMGEGLLGEFRILLNPVQVFDVTKTPPIKALQLCTLLPYYSARVLVCGGDGTVGWVLDAVDDMKIKGQEKYI PQVAVLPLGTGNDLSNTLGWGTGYAGEIPVAQVLRNVMEADGIKLDRWKVQVTNKGYYNLRKPKEFTMNNYFSVGPDALM ALNFHAHREKAPSLFSSRILNKAVYLFYGTKDCLVQECKDLNKKVELELDGERVALPSLEGIIVLNIGYWGGGCRLWEGM GDETYPLARHDDGLLEVVGVYGSFHCAQIQVKLANPFRIGQAHTVRLILKCSMMPMQVDGEPWAQGPCTVTITHKTHAMM LYFSGEQTDDDISSTSDQEDIKATE

Gene Symbol:	DGKE
Accession:	XM_047436959
Location:	EXON
Amino Acid Prediction:	Q to * (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPSVGQTGGKVSSLEKMEAERRPAPGSPSEGLFADGHLILWTLCSVLLPVFITFWCSLRSRRQLHRRDIFRKSKHGW RDTDLFSQPTYCCVCAQHILQGAFCDCCGLRVDEGCLRKADKRFQCKEIMLKNDTKVLDAMPHHWIRGNVPLCSYCMVCK QQCGCQPKLCDYRCIWCQKTVHDECMKNSLKNEKCDFGEFKNLIIPPSYLTSINQMRKDKKTDYEVLASKLGKQWTPLII LANSRSGTNMGEGLLGEFRILLNPVQVFDVTKTPPIKALQLCTLLPYYSARVLVCGGDGTVGWVLDAVDDMKIKVLVFKN YYRRTSKINILYIYIYIWVLLLFCCCCCFFLRYSLALSPRLECSGADTANCNLHFSGSSHPPTSAYKVAETIGVRYHAWL IFVFFVETGFHHVAWAAVKLLGSSDPPTLASQSAGITWGQEKYIPQVAVLPLGTGNDLSNTLGWGTGYAGEIPVAQVLRN VMEADGIKLDRWKVQVTNKGYYNLRKPKEFTMNNYFSVGPDALMALNFHAHREKAPSLFSSRILNKAVYLFYGTKDCLVQ ECKDLNKKVELELDGERVALPSLEGIIVLNIGYWGGGCRLWEGMGDETYPLARHDDGLLEVVGVYGSFHCAQIQVKLANP FRIGQAHTVRLILKCSMMPMQVDGEPWAQGPCTVTITHKTHAMMLYFSGEQTDDDISSTSDQEDIKATE

Gene Symbol:	DGKE
Accession:	XR_002958079
Location:	EXON;NON-CODING

Gene Symbol:	DGKE
Accession:	XM_047436960
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:23274426

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000032778	CLINVAR
dbSNP (RS)	rs398123008	CLINVAR
MedGen	C3554330	CLINVAR
NCBI Gene	DGKE	CLINVAR
OMIM	601440	CLINVAR
	615008	CLINVAR
OMIM Allele	601440.0001	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:8570519 - Homo sapiens

Imported Disease Annotations - ClinVar