DPYS (dihydropyrimidinase) - Rat Genome Database

Name: DPYS
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: DPYS (dihydropyrimidinase) Homo sapiens

Analyze

Symbol:

DPYS

Name:

dihydropyrimidinase

RGD ID:

68541

HGNC Page

HGNC

Description:

Exhibits dihydropyrimidinase activity. Involved in uracil catabolic process. Localizes to extracellular exosome. Implicated in dihydropyrimidinase deficiency and purine-pyrimidine metabolic disorder.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

DHP; DHPase; dihydropyrimidine amidohydrolase; hydantoinase

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Dpys (dihydropyrimidinase)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Dpys (dihydropyrimidinase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Dpys (dihydropyrimidinase)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	DPYS (dihydropyrimidinase)	NCBI	Ortholog
Canis lupus familiaris (dog):	DPYS (dihydropyrimidinase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Dpys (dihydropyrimidinase)	NCBI	Ortholog
Sus scrofa (pig):	DPYS (dihydropyrimidinase)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (African green monkey):	DPYS (dihydropyrimidinase)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Dpys (dihydropyrimidinase)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Crmp1 (collapsin response mediator protein 1)	HGNC	OrthoMCL
Mus musculus (house mouse):	Dpysl4 (dihydropyrimidinase-like 4)	HGNC	OrthoMCL
Mus musculus (house mouse):	Dpysl3 (dihydropyrimidinase-like 3)	HGNC	OrthoMCL
Mus musculus (house mouse):	Dpysl2 (dihydropyrimidinase-like 2)	HGNC	OrthoMCL
Canis lupus familiaris (dog):	DPYSL4 (dihydropyrimidinase like 4)	HGNC	OrthoMCL
Canis lupus familiaris (dog):	CRMP1 (collapsin response mediator protein 1)	HGNC	OrthoMCL
Canis lupus familiaris (dog):	DPYSL3 (dihydropyrimidinase like 3)	HGNC	OrthoMCL
Canis lupus familiaris (dog):	DPYSL2 (dihydropyrimidinase like 2)	HGNC	OrthoMCL
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Dpys (dihydropyrimidinase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|TreeFam)
Mus musculus (house mouse):	Dpys (dihydropyrimidinase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Danio rerio (zebrafish):	dpys (dihydropyrimidinase)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam\|ZFIN)
Drosophila melanogaster (fruit fly):	CRMP	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Caenorhabditis elegans (roundworm):	dhp-1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup)
Caenorhabditis elegans (roundworm):	dhp-2	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	8	104,330,324 - 104,467,055 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	8	104,379,429 - 104,467,074 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	8	105,391,659 - 105,479,283 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	105,460,829 - 105,548,453 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	8	105,460,828 - 105,548,453	NCBI
Celera	8	101,578,319 - 101,665,933 (-)	NCBI
Cytogenetic Map	8	q22.3	NCBI
HuRef	8	100,592,683 - 100,680,266 (-)	NCBI		HuRef
CHM1_1	8	105,432,468 - 105,520,073 (-)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

dihydropyrimidinase deficiency (IAGP)

Experimental Liver Cirrhosis (EXP)

purine-pyrimidine metabolic disorder (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

1,1-dichloroethene (ISO)

1,2-dimethylhydrazine (ISO)

1-naphthyl isothiocyanate (ISO)

2,3,7,8-tetrabromodibenzodioxine (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

3,3',4,4'-tetrachlorobiphenyl (ISO)

3-chloropropane-1,2-diol (ISO)

4,4'-diaminodiphenylmethane (ISO)

acetamide (ISO)

aflatoxin B1 (EXP,ISO)

aflatoxin B2 (EXP)

ammonium chloride (ISO)

antirheumatic drug (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

buta-1,3-diene (ISO)

carbon nanotube (ISO)

clofibrate (ISO)

clofibric acid (ISO)

copper atom (ISO)

copper(0) (ISO)

cyclosporin A (EXP,ISO)

decabromodiphenyl ether (ISO)

diazinon (EXP)

endosulfan (ISO)

glafenine (ISO)

gliotoxin (ISO)

graphite (ISO)

hydrogen chloride (ISO)

hydrogen peroxide (EXP)

monosodium L-glutamate (ISO)

N-nitrosodiethylamine (ISO)

N-nitrosodimethylamine (ISO)

nefazodone (ISO)

nimesulide (ISO)

O-methyleugenol (EXP)

paracetamol (EXP,ISO)

pentachlorophenol (ISO)

perfluorononanoic acid (EXP)

perfluorooctanoic acid (ISO)

phenethyl caffeate (ISO)

phenobarbital (ISO)

pirinixic acid (ISO)

potassium dichromate (ISO)

sodium arsenite (EXP,ISO)

succimer (ISO)

sulindac (EXP)

tetrachloroethene (ISO)

tetrachloromethane (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

troglitazone (EXP)

urethane (EXP)

valproic acid (EXP)

vancomycin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

beta-alanine metabolic process (IEA,ISO)

CMP catabolic process (IEA,ISO)

dCMP catabolic process (IEA,ISO)

dUMP catabolic process (IEA,ISO)

pyrimidine nucleobase catabolic process (IBA,IDA)

pyrimidine nucleoside catabolic process (TAS)

thymine catabolic process (ISO,ISS)

UMP catabolic process (IEA,ISO)

uracil catabolic process (IDA,IMP,ISO)

uracil metabolic process (ISO)

Cellular Component

cytosol (ISO,ISS,TAS)

extracellular exosome (HDA)

protein-containing complex (IEA,ISO)

Molecular Function

amino acid binding (IEA,ISO)

dihydropyrimidinase activity (IBA,IDA,IMP,ISO)

hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (IEA)

identical protein binding (ISO,ISS)

phosphoprotein binding (IEA,ISO)

protein binding (IPI)

thymine binding (IEA,ISO)

uracil binding (IEA,ISO)

zinc ion binding (ISO,NAS)

Molecular Pathway Annotations Click to see Annotation Detail View

beta-alanine metabolic pathway (EXP,IEA)

beta-ureidopropionase deficiency pathway (EXP)

carnosinemia pathway (EXP)

dihydropyrimidinase deficiency pathway (EXP)

GABA aminotransferase deficiency pathway (EXP)

mitochondrial neurogastrointestinal encephalopathy syndrome pathway (EXP)

orotic aciduria 1 pathway (EXP)

pantothenic acid metabolic pathway (IEA)

pyrimidine metabolic pathway (EXP,IEA,ISO)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal facial shape (IAGP)

Abnormal pyramidal sign (IAGP)

Abnormality of the cerebral white matter (IAGP)

Anal atresia (IAGP)

Autosomal recessive inheritance (IAGP)

Delayed speech and language development (IAGP)

Excessive daytime somnolence (IAGP)

Extrapyramidal dyskinesia (IAGP)

Feeding difficulties in infancy (IAGP)

Growth delay (IAGP)

Intellectual disability (IAGP)

Lethargy (IAGP)

Metabolic acidosis (IAGP)

Morphological abnormality of the pyramidal tract (IAGP)

Plagiocephaly (IAGP)

Reduced dihydropyrimidine dehydrogenase level (IAGP)

Seizure (IAGP)

Short phalanx of finger (IAGP)

Talipes equinovarus (IAGP)

References

References - curated


1.	GOA_HUMAN data from the GO Consortium
2.	Hamajima N, etal., Am J Hum Genet. 1998 Sep;63(3):717-26.
3.	KEGG
4.	OMIM Disease Annotation Pipeline
5.	Pipeline to import KEGG annotations from KEGG into RGD
6.	Pipeline to import SMPDB annotations from SMPDB into RGD
7.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8.	RGD automated import pipeline for gene-chemical interactions
9.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10.	Tamaki N, etal., Br J Nutr. 1995 May;73(5):711-22.

Additional References at PubMed

PMID:3931905	PMID:8973361	PMID:10410956	PMID:10956643	PMID:12477932	PMID:15489334	PMID:17383919	PMID:18075467	PMID:18216719	PMID:19056867	PMID:19649633	PMID:20362666
PMID:20797317	PMID:21873635	PMID:23376485	PMID:25193387	PMID:26186194	PMID:26771602	PMID:28514442	PMID:29054612	PMID:31091453	PMID:31853544	PMID:32296183	PMID:32814053

Genomics

Comparative Map Data

DPYS
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	8	104,330,324 - 104,467,055 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	8	104,379,429 - 104,467,074 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	8	105,391,659 - 105,479,283 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	105,460,829 - 105,548,453 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	8	105,460,828 - 105,548,453	NCBI
Celera	8	101,578,319 - 101,665,933 (-)	NCBI
Cytogenetic Map	8	q22.3	NCBI
HuRef	8	100,592,683 - 100,680,266 (-)	NCBI		HuRef
CHM1_1	8	105,432,468 - 105,520,073 (-)	NCBI		CHM1_1

Dpys
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	39,631,881 - 39,720,866 (-)	NCBI	GRCm39		mm39
GRCm39 Ensembl	15	39,631,883 - 39,720,866 (-)	Ensembl
GRCm38	15	39,768,485 - 39,857,470 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	39,768,487 - 39,857,470 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	39,600,031 - 39,689,016 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	15	39,598,559 - 39,687,541 (-)	NCBI			mm8
Celera	15	40,252,611 - 40,341,397 (-)	NCBI		Celera
Cytogenetic Map	15	B3.1	NCBI

Dpys
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	7	70,822,648 - 70,929,255 (-)	NCBI
Rnor_6.0 Ensembl	7	78,769,807 - 78,847,974 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	7	78,769,918 - 78,847,941 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	7	78,796,405 - 78,873,615 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	75,368,238 - 75,446,160 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	7	75,449,118 - 75,466,890 (-)	NCBI
Celera	7	67,904,867 - 67,982,691 (-)	NCBI		Celera
Cytogenetic Map	7	q31	NCBI

Dpys
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955417	28,185,407 - 28,244,307 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955417	28,183,771 - 28,244,309 (-)	NCBI	ChiLan1.0	ChiLan1.0

DPYS
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	8	103,160,922 - 103,248,303 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	8	103,160,922 - 103,248,303 (-)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	8	101,008,090 - 101,096,234 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

DPYS
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	13	5,583,801 - 5,659,463 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	13	5,583,795 - 5,659,355 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

Dpys
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
SpeTri2.0	NW_004936470	39,564,431 - 39,637,394 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

DPYS
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	4	32,789,460 - 32,879,489 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	4	32,791,152 - 32,879,489 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	4	35,528,834 - 35,616,166 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

DPYS
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	8	99,216,623 - 99,303,969 (-)	NCBI
ChlSab1.1 Ensembl	8	99,216,354 - 99,303,282 (-)	Ensembl

Dpys
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624763	20,618,515 - 20,680,790 (-)	NCBI

Position Markers

D8S1459

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	105,413,445 - 105,413,576	UniSTS	GRCh37
Build 36	8	105,482,621 - 105,482,752	RGD	NCBI36
Celera	8	101,600,107 - 101,600,238	RGD
Cytogenetic Map	8	q22	UniSTS
HuRef	8	100,614,482 - 100,614,613	UniSTS
Marshfield Genetic Map	8	117.62	UniSTS
Marshfield Genetic Map	8	117.62	RGD

D8S1738

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	105,394,052 - 105,394,262	UniSTS	GRCh37
Build 36	8	105,463,228 - 105,463,438	RGD	NCBI36
Celera	8	101,580,719 - 101,580,927	RGD
Cytogenetic Map	8	q22	UniSTS
HuRef	8	100,595,083 - 100,595,301	UniSTS
Marshfield Genetic Map	8	117.62	RGD
Marshfield Genetic Map	8	117.62	UniSTS
Genethon Genetic Map	8	116.3	UniSTS
TNG Radiation Hybrid Map	8	51641.0	UniSTS

RH12824

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	105,394,000 - 105,394,157	UniSTS	GRCh37
Build 36	8	105,463,176 - 105,463,333	RGD	NCBI36
Celera	8	101,580,667 - 101,580,822	RGD
Cytogenetic Map	8	q22	UniSTS
HuRef	8	100,595,031 - 100,595,196	UniSTS
GeneMap99-GB4 RH Map	8	442.14	UniSTS

RH80769

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	105,391,830 - 105,392,063	UniSTS	GRCh37
Build 36	8	105,461,006 - 105,461,239	RGD	NCBI36
Celera	8	101,578,497 - 101,578,730	RGD
Cytogenetic Map	8	q22	UniSTS
HuRef	8	100,592,861 - 100,593,094	UniSTS
GeneMap99-GB4 RH Map	8	445.89	UniSTS

RH80723

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	105,394,797 - 105,395,024	UniSTS	GRCh37
Build 36	8	105,463,973 - 105,464,200	RGD	NCBI36
Celera	8	101,581,462 - 101,581,689	RGD
Cytogenetic Map	8	q22.3	UniSTS
Cytogenetic Map	8	q22	UniSTS
HuRef	8	100,595,836 - 100,596,063	UniSTS
GeneMap99-GB4 RH Map	8	438.39	UniSTS

G59856

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	105,394,809 - 105,395,005	UniSTS	GRCh37
Build 36	8	105,463,985 - 105,464,181	RGD	NCBI36
Celera	8	101,581,474 - 101,581,670	RGD
Cytogenetic Map	8	q22.3	UniSTS
Cytogenetic Map	8	q22	UniSTS
HuRef	8	100,595,848 - 100,596,044	UniSTS
TNG Radiation Hybrid Map	8	51641.0	UniSTS

SHGC-112121

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	105,451,710 - 105,452,054	UniSTS	GRCh37
Build 36	8	105,520,886 - 105,521,230	RGD	NCBI36
Celera	8	101,638,375 - 101,638,719	RGD
Cytogenetic Map	8	q22	UniSTS
HuRef	8	100,652,696 - 100,653,040	UniSTS
TNG Radiation Hybrid Map	8	51657.0	UniSTS

DPYS_8314

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	105,391,473 - 105,391,998	UniSTS	GRCh37
Build 36	8	105,460,649 - 105,461,174	RGD	NCBI36
Celera	8	101,578,140 - 101,578,665	RGD
HuRef	8	100,592,504 - 100,593,029	UniSTS

RH45444

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	105,394,798 - 105,395,009	UniSTS	GRCh37
Build 36	8	105,463,974 - 105,464,185	RGD	NCBI36
Celera	8	101,581,463 - 101,581,674	RGD
Cytogenetic Map	8	q22.3	UniSTS
Cytogenetic Map	8	q22	UniSTS
HuRef	8	100,595,837 - 100,596,048	UniSTS
GeneMap99-GB4 RH Map	8	440.12	UniSTS
NCBI RH Map	8	1016.3	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1200
Count of miRNA genes:	707
Interacting mature miRNAs:	812
Transcripts:	ENST00000351513, ENST00000519217, ENST00000520483, ENST00000520806, ENST00000521372, ENST00000521573, ENST00000533874
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

446

416

228

210

Low

102

362

114

438

1266

742

410

427

Below cutoff

1813

1989

661

146

1151

2883

1497

2119

511

805

131

512

1943

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_008840	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001385	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005250818	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006716518	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011516903	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017013167	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024447087	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001745489	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001745490	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB004678	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK311261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP002847	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP003471	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC034395	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471060	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ840196	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D78011	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC877293	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000351513 ⟹ ENSP00000276651

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	8	104,379,431 - 104,467,055 (-)	Ensembl

RefSeq Acc Id:

ENST00000519217

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	8	104,429,147 - 104,444,368 (-)	Ensembl

RefSeq Acc Id:

ENST00000520483

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	8	104,380,513 - 104,418,854 (-)	Ensembl

RefSeq Acc Id:

ENST00000520806

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	8	104,379,435 - 104,381,411 (-)	Ensembl

RefSeq Acc Id:

ENST00000521372

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	8	104,381,177 - 104,411,815 (-)	Ensembl

RefSeq Acc Id:

ENST00000521573 ⟹ ENSP00000430246

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	8	104,444,430 - 104,467,044 (-)	Ensembl

RefSeq Acc Id:

ENST00000521601

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	8	104,330,324 - 104,418,912 (-)	Ensembl

RefSeq Acc Id:

ENST00000533874 ⟹ ENSP00000436654

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	8	104,379,491 - 104,392,856 (-)	Ensembl

RefSeq Acc Id:

NM_001385 ⟹ NP_001376

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	104,379,431 - 104,467,055 (-)	NCBI
GRCh37	8	105,391,652 - 105,479,281 (-)	NCBI
Build 36	8	105,460,829 - 105,548,453 (-)	NCBI Archive
HuRef	8	100,592,683 - 100,680,266 (-)	ENTREZGENE
CHM1_1	8	105,432,468 - 105,520,073 (-)	NCBI

Sequence:

show sequence

GCAGCCTGAGGCAGAGCTCGGGGGCTGTCGGTGGGGACCTTGCAGGAGGGCACCCCAAGCCCGC
CCGGCCCGCCCAACCCAGCCCCTGCGCGCAGCCCGGGCCGAGTAGGACCCCGCGCGCCCCTCGC
TATGGCGGCGCCCTCGCGGCTCCTGATCCGCGGGGGTCGCGTGGTCAACGATGACTTCTCGGAG
GTGGCCGACGTGCTGGTGGAGGACGGCGTGGTGCGGGCACTCGGGCACGACCTGCTGCCTCCCG
GGGGCGCTCCTGCGGGGCTGCGGGTCCTCGACGCCGCCGGCAAGCTCGTCCTGCCCGGAGGCAT
CGACACACACACGCACATGCAGTTCCCCTTCATGGGCTCGCGGTCCATCGACGACTTCCACCAG
GGCACCAAGGCTGCTCTCTCAGGAGGCACCACCATGATTATTGATTTCGCCATTCCTCAGAAAG
GTGGCTCCCTCATTGAGGCCTTCGAGACCTGGCGAAGCTGGGCTGATCCCAAAGTTTGCTGCGA
CTACAGCCTTCATGTGGCAGTGACGTGGTGGAGTGACCAGGTTAAAGAAGAAATGAAAATCCTT
GTGCAAGATAAAGGTGTTAACTCTTTCAAGATGTTTATGGCCTATAAAGATCTGTACATGGTGA
CAGACCTGGAGCTGTACGAAGCCTTCTCTCGGTGCAAGGAAATTGGAGCAATTGCCCAGGTCCA
TGCGGAAAATGGAGACTTAATTGCAGAGGGAGCAAAGAAGATGTTGGCTCTGGGGATAACAGGC
CCTGAGGGCCACGAGCTGTGCCGCCCAGAGGCAGTGGAGGCAGAGGCCACGCTGAGAGCCATCA
CCATAGCCAGCGCTGTGAACTGTCCTCTCTACATTGTGCATGTGATGAGCAAGTCTGCAGCTAA
GGTGATAGCGGATGCAAGGAGAGATGGGAAGGTGGTCTATGGTGAACCCATAGCAGCCAGTCTT
GGCACAGATGGCACTCACTACTGGAATAAAGAATGGCACCATGCAGCCCACCATGTCATGGGTC
CACCTTTGCGACCAGACCCCTCAACACCCGACTTCCTCATGAATCTGTTGGCTAATGATGATCT
AACCACAACAGGGACTGATAACTGCACTTTCAACACCTGCCAGAAAGCTCTTGGGAAGGATGAT
TTTACCAAGATCCCCAATGGGGTGAATGGTGTTGAAGATCGGATGTCCGTAATATGGGAAAAAG
GCGTGCATAGTGGTAAAATGGATGAAAACAGATTTGTGGCAGTTACCAGCACAAATGCAGCCAA
AATTTTTAATCTCTATCCAAGAAAAGGAAGAATAGCTGTAGGATCAGATGCTGACATTGTTATT
TGGGACCCAAAAGGCACAAGGACTATCTCAGCAAAAACTCATCATCAGGCTGTTAACTTCAACA
TTTTCGAGGGCATGGTTTGCCACGGGGTGCCCCTTGTGACTATTTCAAGAGGCAAAGTGGTATA
TGAAGCCGGAGTGTTCAGTGTCACGGCAGGAGATGGGAAGTTTATTCCTCGAAAACCATTTGCT
GAATATATTTACAAACGAATAAAGCAGCGAGACCGGACTTGCACACCTACCCCTGTGGAGCGTG
CACCCTATAAGGGAGAAGTCGCCACACTGAAATCCAGAGTGACAAAAGAAGATGCCACAGCAGG
GACCAGGAAACAGGCCCACCCCTGAAGTGTGTGCCATCGGTAAAAAAATCAGAGGAAAGGAGGC
TGCCATTCCCTTCACAGCCAAACATTGTCAACCCATGGAGAAGCAGGCCTTATTCAACTCCCTA
GGATCCTTTAGAAAAAATTCACCACTATAGGCTTCTTTGATTTTCTTTCAGAAGCAATTGCTGT
CTTTCTCACTGTGTTTTTGTTGCTGCATAAGATTGAAGGTATAAATTTATATTATTGTGATGGA
AAGGCTGTGTGGAAATTCATTGATGATACTTTAAAATGTCATCTTTGCTTGTACTAGATTTCTT
ACTTAGAATTTTTAAAAATCATTTTCTTGTTTAAATAGTTTCTTTTTTTAAAAAAATGGTTACA
TTAGTTTTAAAATAGCTCTGTGATTTTACTTTTTATTGTAATTAATAAACATTGAGATCTTCAT
TTTATACCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_005250818 ⟹ XP_005250875

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	104,379,429 - 104,467,074 (-)	NCBI
GRCh37	8	105,391,652 - 105,479,281 (-)	NCBI

Sequence:

show sequence

CGTCAGGCCGCCGGGCTCCGGATTTGCAGCCTGAGGCAGAGCTCGGGGGCTGTCGGTGGGGACC
TTGCAGGAGGGCACCCCAAGCCCGCCCGGCCCGCCCAACCCAGCCCCTGCGCGCAGCCCGGGCC
GAGTAGGACCCCGCGCGCCCCTCGCTATGGCGGCGCCCTCGCGGCTCCTGATCCGCGGGGGTCG
CGTGGTCAACGATGACTTCTCGGAGGTGGCCGACGTGCTGGTGGAGGACGGCGTGGTGCGGGCA
CTCGGGCACGACCTGCTGCCTCCCGGGGGCGCTCCTGCGGGGCTGCGGGTCCTCGACGCCGCCG
GCAAGCTCGTCCTGCCCGGAGGCATCGACACACACACGCACATGCAGTTCCCCTTCATGGGCTC
GCGGTCCATCGACGACTTCCACCAGGGCACCAAGGCTGCTCTCTCAGGAGGCACCACCATGATT
ATTGATTTCGCCATTCCTCAGAAAGGTGGCTCCCTCATTGAGGCCTTCGAGACCTGGCGAAGCT
GGGCTGATCCCAAAGTTTGCTGCGACTACAGCCTTCATGTGGCAGTGACGTGGTGGAGTGACCA
GGTTAAAGAAGAAATGAAAATCCTTGTGCAAGATAAAGGTGTTAACTCTTTCAAGATGTTTATG
GCCTATAAAGATCTGTACATGGTGACAGACCTGGAGCTGTACGAAGCCTTCTCTCGGTGCAAGG
AAATTGGAGCAATTGCCCAGGTCCATGCGGAAAATGGAGACTTAATTGCAGAGGGAGCAAAGAA
GATGTTGGCTCTGGGGATAACAGGCCCTGAGGGCCACGAGCTGTGCCGCCCAGAGGCAGTGGAG
GCAGAGGCCACGCTGAGAGCCATCACCATAGCCAGCGCTGTGAACTGTCCTCTCTACATTGTGC
ATGTGATGAGCAAGTCTGCAGCTAAGGTGATAGCGGATGCAAGGAGAGATGGGAAGGTGGTCTA
TGGTGAACCCATAGCAGCCAGTCTTGGCACAGATGGCACTCACTACTGGAATAAAGAATGGCAC
CATGCAGCCCACCATGTCATGGGTCCACCTTTGCGACCAGACCCCTCAACACCCGACTTCCTCA
TGAATCTGTTGGCTAATGATGATCTAACCACAACAGGGACTGATAACTGCACTTTCAACACCTG
CCAGAAAGCTCTTGGGAAGGATGATTTTACCAAGATCCCCAATGGGGTGAATGGTGTTGAAGAT
CGGATGTCCGTAATATGGGAAAAAGGCGTGCATAGTGGTAAAATGGATGAAAACAGATTTGTGG
CAGTTACCAGCACAAATGCAGCCAAAATTTTTAATCTCTATCCAAGAAAAGGAAGAATAGCTGT
AGGATCAGATGCTGACATTGTTATTTGGGACCCAAAAGGCACAAGAGGATGTAGAAGTTGTGTT
GCATTCTCTGACAATGGATCTGTATATAAAACCAATATGAATTTACCACTTCAGTGCCTGGCAA
ATGCCCGAGTTCACATGGAAGAAAGGACTATCTCAGCAAAAACTCATCATCAGGCTGTTAACTT
CAACATTTTCGAGGGCATGGTTTGCCACGGGGTGCCCCTTGTGACTATTTCAAGAGGCAAAGTG
GTATATGAAGCCGGAGTGTTCAGTGTCACGGCAGGAGATGGGAAGTTTATTCCTCGAAAACCAT
TTGCTGAATATATTTACAAACGAATAAAGCAGCGAGACCGGACTTGCACACCTACCCCTGTGGA
GCGTGCACCCTATAAGGGAGAAGTCGCCACACTGAAATCCAGAGTGACAAAAGAAGATGCCACA
GCAGGGACCAGGAAACAGGCCCACCCCTGAAGTGTGTGCCATCGGTAAAAAAATCAGAGGAAAG
GAGGCTGCCATTCCCTTCACAGCCAAACATTGTCAACCCATGGAGAAGCAGGCCTTATTCAACT
CCCTAGGATCCTTTAGAAAAAATTCACCACTATAGGCTTCTTTGATTTTCTTTCAGAAGCAATT
GCTGTCTTTCTCACTGTGTTTTTGTTGCTGCATAAGATTGAAGGTATAAATTTATATTATTGTG
ATGGAAAGGCTGTGTGGAAATTCATTGATGATACTTTAAAATGTCATCTTTGCTTGTACTAGAT
TTCTTACTTAGAATTTTTAAAAATCATTTTCTTGTTTAAATAGTTTCTTTTTTTAAAAAAATGG
TTACATTAGTTTTAAAATAGCTCTGTGATTTTACTTTTTATTGTAATTAATAAACATTGAGATC
TTCATTTTATA

hide sequence

RefSeq Acc Id:

XM_006716518 ⟹ XP_006716581

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	104,379,429 - 104,467,074 (-)	NCBI

Sequence:

show sequence

CGTCAGGCCGCCGGGCTCCGGATTTGCAGCCTGAGGCAGAGCTCGGGGGCTGTCGGTGGGGACC
TTGCAGGAGGGCACCCCAAGCCCGCCCGGCCCGCCCAACCCAGCCCCTGCGCGCAGCCCGGGCC
GAGTAGGACCCCGCGCGCCCCTCGCTATGGCGGCGCCCTCGCGGCTCCTGATCCGCGGGGGTCG
CGTGGTCAACGATGACTTCTCGGAGGTGGCCGACGTGCTGGTGGAGGACGGCGTGGTGCGGGCA
CTCGGGCACGACCTGCTGCCTCCCGGGGGCGCTCCTGCGGGGCTGCGGGTCCTCGACGCCGCCG
GCAAGCTCGTCCTGCCCGGAGGCATCGACACACACACGCACATGCAGTTCCCCTTCATGGGCTC
GCGGTCCATCGACGACTTCCACCAGGGCACCAAGGTTAAAGAAGAAATGAAAATCCTTGTGCAA
GATAAAGGTGTTAACTCTTTCAAGATGTTTATGGCCTATAAAGATCTGTACATGGTGACAGACC
TGGAGCTGTACGAAGCCTTCTCTCGGTGCAAGGAAATTGGAGCAATTGCCCAGGTCCATGCGGA
AAATGGAGACTTAATTGCAGAGGGAGCAAAGAAGATGTTGGCTCTGGGGATAACAGGCCCTGAG
GGCCACGAGCTGTGCCGCCCAGAGGCAGTGGAGGCAGAGGCCACGCTGAGAGCCATCACCATAG
CCAGCGCTGTGAACTGTCCTCTCTACATTGTGCATGTGATGAGCAAGTCTGCAGCTAAGGTGAT
AGCGGATGCAAGGAGAGATGGGAAGGTGGTCTATGGTGAACCCATAGCAGCCAGTCTTGGCACA
GATGGCACTCACTACTGGAATAAAGAATGGCACCATGCAGCCCACCATGTCATGGGTCCACCTT
TGCGACCAGACCCCTCAACACCCGACTTCCTCATGAATCTGTTGGCTAATGATGATCTAACCAC
AACAGGGACTGATAACTGCACTTTCAACACCTGCCAGAAAGCTCTTGGGAAGGATGATTTTACC
AAGATCCCCAATGGGGTGAATGGTGTTGAAGATCGGATGTCCGTAATATGGGAAAAAGGCGTGC
ATAGTGGTAAAATGGATGAAAACAGATTTGTGGCAGTTACCAGCACAAATGCAGCCAAAATTTT
TAATCTCTATCCAAGAAAAGGAAGAATAGCTGTAGGATCAGATGCTGACATTGTTATTTGGGAC
CCAAAAGGCACAAGAGGATGTAGAAGTTGTGTTGCATTCTCTGACAATGGATCTGTATATAAAA
CCAATATGAATTTACCACTTCAGTGCCTGGCAAATGCCCGAGTTCACATGGAAGAAAGGACTAT
CTCAGCAAAAACTCATCATCAGGCTGTTAACTTCAACATTTTCGAGGGCATGGTTTGCCACGGG
GTGCCCCTTGTGACTATTTCAAGAGGCAAAGTGGTATATGAAGCCGGAGTGTTCAGTGTCACGG
CAGGAGATGGGAAGTTTATTCCTCGAAAACCATTTGCTGAATATATTTACAAACGAATAAAGCA
GCGAGACCGGACTTGCACACCTACCCCTGTGGAGCGTGCACCCTATAAGGGAGAAGTCGCCACA
CTGAAATCCAGAGTGACAAAAGAAGATGCCACAGCAGGGACCAGGAAACAGGCCCACCCCTGAA
GTGTGTGCCATCGGTAAAAAAATCAGAGGAAAGGAGGCTGCCATTCCCTTCACAGCCAAACATT
GTCAACCCATGGAGAAGCAGGCCTTATTCAACTCCCTAGGATCCTTTAGAAAAAATTCACCACT
ATAGGCTTCTTTGATTTTCTTTCAGAAGCAATTGCTGTCTTTCTCACTGTGTTTTTGTTGCTGC
ATAAGATTGAAGGTATAAATTTATATTATTGTGATGGAAAGGCTGTGTGGAAATTCATTGATGA
TACTTTAAAATGTCATCTTTGCTTGTACTAGATTTCTTACTTAGAATTTTTAAAAATCATTTTC
TTGTTTAAATAGTTTCTTTTTTTAAAAAAATGGTTACATTAGTTTTAAAATAGCTCTGTGATTT
TACTTTTTATTGTAATTAATAAACATTGAGATCTTCATTTTATA

hide sequence

RefSeq Acc Id:

XM_011516903 ⟹ XP_011515205

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	104,386,861 - 104,467,074 (-)	NCBI

Sequence:

show sequence

CGTCAGGCCGCCGGGCTCCGGATTTGCAGCCTGAGGCAGAGCTCGGGGGCTGTCGGTGGGGACC
TTGCAGGAGGGCACCCCAAGCCCGCCCGGCCCGCCCAACCCAGCCCCTGCGCGCAGCCCGGGCC
GAGTAGGACCCCGCGCGCCCCTCGCTATGGCGGCGCCCTCGCGGCTCCTGATCCGCGGGGGTCG
CGTGGTCAACGATGACTTCTCGGAGGTGGCCGACGTGCTGGTGGAGGACGGCGTGGTGCGGGCA
CTCGGGCACGACCTGCTGCCTCCCGGGGGCGCTCCTGCGGGGCTGCGGGTCCTCGACGCCGCCG
GCAAGCTCGTCCTGCCCGGAGGCATCGACACACACACGCACATGCAGTTCCCCTTCATGGGCTC
GCGGTCCATCGACGACTTCCACCAGGGCACCAAGGCTGCTCTCTCAGGAGGCACCACCATGATT
ATTGATTTCGCCATTCCTCAGAAAGGTGGCTCCCTCATTGAGGCCTTCGAGACCTGGCGAAGCT
GGGCTGATCCCAAAGTTTGCTGCGACTACAGCCTTCATGTGGCAGTGACGTGGTGGAGTGACCA
GGTTAAAGAAGAAATGAAAATCCTTGTGCAAGATAAAGGTGTTAACTCTTTCAAGATGTTTATG
GCCTATAAAGATCTGTACATGGTGACAGACCTGGAGCTGTACGAAGCCTTCTCTCGGTGCAAGG
AAATTGGAGCAATTGCCCAGGTCCATGCGGAAAATGGAGACTTAATTGCAGAGGGAGCAAAGAA
GATGTTGGCTCTGGGGATAACAGGCCCTGAGGGCCACGAGCTGTGCCGCCCAGAGGCAGTGGAG
GCAGAGGCCACGCTGAGAGCCATCACCATAGCCAGCGCTGTGAACTGTCCTCTCTACATTGTGC
ATGTGATGAGCAAGTCTGCAGCTAAGGTGATAGCGGATGCAAGGAGAGATGGGAAGGTGGTCTA
TGGTGAACCCATAGCAGCCAGTCTTGGCACAGATGGCACTCACTACTGGAATAAAGAATGGCAC
CATGCAGCCCACCATGTCATGGGTCCACCTTTGCGACCAGACCCCTCAACACCCGACTTCCTCA
TGAATCTGTTGGCTAATGATGATCTAACCACAACAGGGACTGATAACTGCACTTTCAACACCTG
CCAGAAAGCTCTTGGGAAGGATGATTTTACCAAGATCCCCAATGGGGTGAATGGTGTTGAAGAT
CGGATGTCCGTAATATGGGAAAAAGGCGTGCATAGTGGTAAAATGGATGAAAACAGATTTGTGG
CAGTTACCAGCACAAATGCAGCCAAAATTTTTAATCTCTATCCAAGAAAAGGAAGAATAGCTGT
AGGATCAGATGCTGACATTGTTATTTGGGACCCAAAAGGCACAAGAGGATGTAGAAGTTGTGTT
GCATTCTCTGACAATGGATCTGTATATAAAACCAATATGAATTTACCACTTCAGTGCCTGGCAA
ATGCCCGAGTTCACATGGAAGAAAGGACTATCTCAGCAAAAACTCATCATCAGGCTGTTAACTT
CAACATTTTCGAGGGCATGGTTTGCCACGGGGTGCCCCTTGTGACTATTTCAAGAGGCAAAGTG
GTATATGAAGCCGGAGTGTTCAGTGTCACGGCAGGAGATGGGAAGTTTATTCCTCGAAAACCAT
TTGCTGAATATATTTACAAACGAATAAAGCAGCGAGACCGGTAATAGGGAACCCCAACCTTTTC
TGGAAAATCAGGATCACATTGCATTTTATAGAGAAACAGGAATAGCTTCATGGAGTGATGTATG
GTTTCAGAATACTGCTGCCAAAGCTTTTAAACTGGGTTGTATCTTTGCAATGATAAGCATAATT
TGCCTTGTAGATAAGATAAAATTGAGTGGATGGCTGCTTTGGTCCTTGAGATGGGTATTCTCCA
TTTCTGAAATAACCATTTGTCAATGTCTTTCTCAAGGTGGTAGCTCAGAGAAAATAATTTAAGA
CATATCACTTGCCATATAATCCTAATTTCTTCAGGTTAATCACTACCAATACAAGGTAATACAC
ATGCTGGAGTTGGCTCATTTTGGCTCACAAGAGACATATGTACGCATCTGTGCCCAACTCTTCA
TTCAGTGGTGTCAGTTTGGTAGCTTGAAAACAGCCAGAGAAGGAGTATTTACACCACAGAAATA
GGCAGGTGCTTTAAGTTAGGGCTTTAAGGATGGTGAGGAAAAAGGAAGGTAGAGATAGTTGTTA
ATATTTACCAACACATCACTACACACAGGACACTTTCTAAGTACTCTTTTTCATGCTTTATCTA
ATCAATCAACATCCGTTCAGTAAATATTTATTGATCACCAGTTATGTTCCAAGCACACTTTAAT
TCTTTCAACAACCCTTGGAGGTAAGTAGTGATATTCCTATTTCATATATTAAGAAATAGAGGCT
CAGGGAGCTCACATAGTTACCAAGTGGCAGTGTTGGGACTCAAACCCAGGTTTGTCTACCTCCA
AAGCCAATCCCTTTAACTTGTATCACTGCAGTATCCTAACCATAAACTTTAATCCCTACTCAAA
CAAATAGCCACCCATTCCCCCATCCTTATGATATCGCTCCCTCAGTCTCCCCTCTGCACAGAGG
GTTCACTTCCTCTCGGACTGGCAAATTTACCAGAGGAGCCAGCCCTGAAATGAGACAGCCCAGC
TTTGTAGCTCACAGCATTTTGTTTGTTTGTTTGTTTATTTATTTATTTATTGCTTCAAAATCTT
TCCCTCTCCCACTCCAGCCAGGATATTTTAAGGATTAAATTGAGATATTTGGTAAATTGTAAAC
ATCATCAAAATGCCAATCTTCATTGTTATAGATCACCTCTGTTGCACCTAGGGCTTTCTCATGT
ACAAGTGATTCACAGAGCCCTGGGTAGCTCAGTTCAATGTGTGCTGAGTGCCCTCTACATTCAC
CAGGCCAGGCGTGGATTTCATTCTCAGGGAGTCACTGTTCATTTGGTCTGCTTGCTGTTGACCC
AGCATCTGCTGTTTGGTATTTGGAAGTTCTGTTGTCTTTATTGATATTTTAGTATCTTAGCCTC
CATGAACAGCATTCAATCATTAATACCTTTGGGATTCTTCTCTGTTGATCTTGCTAATTTCAGA
AAATCTAGCATCCAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGATGCTGAA
GCGGGTGGATCACCTG

hide sequence

RefSeq Acc Id:

XM_017013167 ⟹ XP_016868656

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	104,414,996 - 104,467,074 (-)	NCBI

Sequence:

show sequence

CGTCAGGCCGCCGGGCTCCGGATTTGCAGCCTGAGGCAGAGCTCGGGGGCTGTCGGTGGGGACC
TTGCAGGAGGGCACCCCAAGCCCGCCCGGCCCGCCCAACCCAGCCCCTGCGCGCAGCCCGGGCC
GAGTAGGACCCCGCGCGCCCCTCGCTATGGCGGCGCCCTCGCGGCTCCTGATCCGCGGGGGTCG
CGTGGTCAACGATGACTTCTCGGAGGTGGCCGACGTGCTGGTGGAGGACGGCGTGGTGCGGGCA
CTCGGGCACGACCTGCTGCCTCCCGGGGGCGCTCCTGCGGGGCTGCGGGTCCTCGACGCCGCCG
GCAAGCTCGTCCTGCCCGGAGGCATCGACACACACACGCACATGCAGTTCCCCTTCATGGGCTC
GCGGTCCATCGACGACTTCCACCAGGGCACCAAGGCTGCTCTCTCAGGAGGCACCACCATGATT
ATTGATTTCGCCATTCCTCAGAAAGGTGGCTCCCTCATTGAGGCCTTCGAGACCTGGCGAAGCT
GGGCTGATCCCAAAGTTTGCTGCGACTACAGCCTTCATGTGGCAGTGACGTGGTGGAGTGACCA
GGTTAAAGAAGAAATGAAAATCCTTGTGCAAGATAAAGGTGTTAACTCTTTCAAGATGTTTATG
GCCTATAAAGATCTGTACATGGTGACAGACCTGGAGCTGTACGAAGCCTTCTCTCGGTGCAAGG
AAATTGGAGCAATTGCCCAGGTCCATGCGGAAAATGGAGACTTAATTGCAGAGGGAGCAAAGAA
GATGTTGGCTCTGGGGATAACAGGCCCTGAGGGCCACGAGCTGTGCCGCCCAGAGGCAGTGGAG
GCAGAGGCCACGCTGAGAGCCATCACCATAGCCAGCGCTGTGAACTGTCCTCTCTACATTGTGC
ATGTGATGAGCAAGTCTGCAGCTAAGGTGATAGCGGATGCAAGGAGAGATGGGAAGGTGGTCTA
TGGTGAACCCATAGCAGCCAGTCTTGGCACAGATGGCACTCACTACTGGAATAAAGAATGGCAC
CATGCAGCCCACCATGTCATGGGTCCACCTTTGCGACCAGACCCCTCAACACCCGACTTCCTCA
TGAATCTGTTGGCTAATGATGATCTAACCACAACAGGGACTGATAACTGCACTTTCAACACCTG
CCAGAAAGCTCTTGGGAAGGATGATTTTACCAAGATCCCCAATGGGGTGAATGGTGTTGAAGAT
CGGATGTCCGTAATATGGGAAAAAGGCGTGCATAGTGGTAAAATGGATGAAAACAGATTTGTGG
CAGTTACCAGCACAAATGCAGCCAAAATTTTTAATCTCTATCCAAGAAAAGGAAGAATAGCTGT
AGGATCAGATGCTGACATTGTTATTTGGGACCCAAAAGGCACAAGAGGATGTAGAAGTTGTGTT
GCATTCTCTGACAATGGATCTGTATATAAAACCAATATGAATTTACCACTTCAGTGCCTGGCAA
ATGCCCGAGTTCACATGGAAGAAAGGTTGGAGCAACGAGTTTGTTAAGCAGAGCTCTTAGAGAG
ATGAAATGAAGCCAAAAGAGTCACCTTTGTGTGTTCCTTCATTCACAAATTCACTCTGCACAGG
AGCACCTCGGCAAGCCGCAGGCTGAGGGTCAAGCTTATACAACAGCCACACCCTGCCTTTAAGA
AGCTGACAGTCTAGGAGAGGAGAGGAGATGTAAAGTCAAATATTCTCAGCCTAAGAAGGGATGG
GTTAAGAATATCACACGAGAGGCAGAAACAAGATGCCTTAGAAATTCAAAGAAGAAAGATCATT
GTGGAGTTAGAGCAGTCATCGACATGAAATCGTACGAGAGAGGTGAGTAGATAACGTGGCCCTG
TGAGTCAAGACTAAACATGGAGGTGAGATAAACCAAGGCATTGACAGGGGGTTCTAGGAGGAAG
CAGTTAAGGCTGGGGATTGCACTACAGAGAGAACAGCTTCAGGCTGTAGAAGGAAATGAGAAGG
TGAAGAGGTTGTGGCTGTCTCCACTTTTAATTGTGTTTATCACAGACAGAGGCAATTTTAAATA
GAGTTCACCTTGTAGAGAAGTGTTATTTAATCAAATGAATAAATGAATATATCTATACGGTTTT
TTTTTCTTCTTGCAATGAAGGCCTCCCTTTTAAATTTTACGTGCCTGATTTTAACATTAAATGC
AGGCTGGTAATGTGCAGGATTTTTGTCTCACACCATTAGATGTTGGCCCAAATTTTCCTACAAA
ATTTCCTTAAACAGTTTTAGCAAAAATAATTGCCCAGCCGTCTTGTTAGTATCTAACAGGAAAG
CAACATGCATTGCACCCTAGATGCTGAAGGGGGCGCCCGCAGCCCGAGCACTGAGCTAGGCTGG
CTCCAGCCAGGCCATTCGAGCTGCTGGTTATGCAAGAACAAGCCAGCCTCTGGAGAACGGATGC
ATTTGCTAAAGATTTTTGGCTTCATGGTACATAGATGTTTTCGTTTTTAAAATTCTTGTTACTT
ATTAATGGCATGTAGACGTAAGTATGCTTGCCACACAATCTGTAGCCTTAAAAATGGACCACGT
TAAAGTTACCAGGGGAGACCAGTGGAAAGAAAAGCAGGGCAGCCATGCTTATTTTTTCCTTTTA
AATCTGTAAAAAGTGAGATGATTCCAAGGTGAGGAATTTGACATATGGTGATGGATGGCGAGAG
AGAATTGGGAGTGGGCGTAGTAGGGAAGGTTTGGACATCCTGATGAAAGATTACCTAAGACGTC
ACTAGCCTGTAAAAAGTTCCTGCAAAAATCAACTGCAATAGCTCTTCTGTGTCATTGCACAATA
AAGAACAAACTGCATTTAGTGTAAAGGGAGCATTCACCTTTTTCGGAAATAAAGAGCCTGCTGT
ATTCAGCCTGACAGCTCATTGAACTGGTGTCTATTGCTTATGACGGAAGTATGTGTCCTACTGC
TTCACTACTTGGGTCAAAGTTTCAAATTTAAGGACGTTTTCCATATCTGAATGTCTGACCCATT
TCTGTAGAAGATCTTGGTACTTAGAGTCAGGAGAAGAAATCAGGAACATGCTTTTCATGTGATG
TAAAGACAGAATCTTGTGGTGTCATGTGGTCAAGACAGAGATCAGCCAAATTGGCCAACTTGTT
AAAAATCTTATTAGAGAGAGTGACATGTCAGTTACTTGCAAGCCCATAGCTGCAGCAGTAAGTC
ATGTTCTGGCAATTTAAAACCATCCTCGGAGCTTCAGTTCTTTGGTATTCATTAAATAGCACTT
AGTTACTATGGTAACTGTCCCTTTTCAGTATTTATGAGCTACAGGATATCTCACAGAATCTCAA
GCACACAAACACACAGCTAACACATTGTGTGTACTGGAACATTTAATGAAGACTTCTAGCTGGA
CCGTATTCTGCCGAGCAGACATATTTTCATTTATTATTTTTTAACTCAATTATGGCAGGCTTTG
ACCTTGAATACACCATTCTTGAAAGCATTGTGCCATCTTTCTTGCTTAATTTCCTTCCTTTTCT
CATTGAAGATAGAGATAAATGAATTTAACTTTATATTCAGTGAAGAGTAATGGCTTGCGGCTTA
TGATGGTGCCCTTCTGGATTCTAGAGGGGGCCTTTTGTGTGAAATAAAGCGGGGGAAGAATGAC
TGTCATCCTTGGGTAGTAGGGATTGTAGGGCGTGGGGAGGGAGAAGAAAGGAGGAGTCAGGTAC
CCTTTGGCAAAGAGTGATGGTTATGGCTTATTAGGATAGCTACATCACCAGTGACTGTTTCACA
GAAGCTATGAAGCATTTTCCCTTGAAGTTGCACATTGTGTATCCTCTGACTAATTTGTGCGTTA
TAATCCTCCTCCTCTTCCTCAAAGAAAGCGTGCACACACACACACACACACTCACATGCACATC
AGCACAGCAGCCTGTGTTCCTGCTCATAACAGTTGATCGGCCTAAAGATGCTGCTTTTCATGCC
TGTTTCTAAGAGTGTCTGTCACTAACGCGCCCGCCACTCCCCACACCCACAAGCATCCCAGTGT
GCATTGTGTGGGTCTTGTCATGGGTGCATAAGTGGAAATGAATATGATTTATGCCATGATTTGT
CACTGTGATGTCTTGTAACACAATATCAGGGCTGTACCATGGTGTCAGGGCTGCTGGCTGAGGT
GGTTCAGGTTGTGCTTTTGCAAAGTTACAGGGGCACTCTTCACATCATAGTTACCACAGATATA
TGTGGATAGATAGGTAGCTAGATATAGATACAGGTAGTAACTATGCCAGTTTTCTAGCATATGA
TAGCAAAGCACCTTGAGGAACAAATATCTGTTGCTAATCCACACAAAATCAAACCTGCCATCTG
GGCTATTGGGGGGGAGCAGTACCATAGAGTGAAGAGAAAGGCTTTGGTGATAAATTCCTAGTCT
GCCACTTATGAGCTGGGTGTGACCTTGGGTATATCATTTAATTTTTCTGAATTTCAATTTTTTT
ATTTGCAAAATGGGCATGATGATGATATTTATTTCCTAGCTTTGTTGTGAGTTTTAAGGTAGCA
TCATAAGATGCTTGGAACATAGTTAGTGTTCAGTAGCAGTTGGCATGTAGTAGGTAGTCAGTTA
GTGGTAATAGATAGTAGTAGTAGGTGGTCAGTTTGTGAAATGAGTGGGAGCTCTTATTAGCTAT
AGCTGTGAGTCAGAAATCTTTGTATAATGACTTAATTCAGACAGGACCAAAAGATACTATAATT
ATATTTCATATAAAAACTCTGTCTCCCAGGTTTCTTGCACACCTTTAATTTTCACCACTAAATT
TCAGAATGACTAAAATTAAGAAGCTTGGATGGATTATTTTGGCTAAGATAGCCCGAGCCTCCAG
AACTGACACCTTTTAAAAATTATTAGCAGTGAAACTGTTCAAACAAACCTCCTAAGATTCATTT
TGTGGCCTTCAGAAGACATTTGCTTTAAAAAAAAAAAAAAGTCTGGGCTATGCATGAAAAAAAG
CTAACATTGTTGATTACATATGCATACAATTTTAACCACTCTTTATTCCAAGTTGTTTATTTAA
ACATATTTTTATGCAACTGAACCTTTCAAGTGAACTAGAAATGATTTCTAGGGACTTTACTACT
AATAACTGCATTTTCCCCCAAATTATAAAAGAAAAGCAGCTTAGAAATGAATCACAGTAACCCA
TTCTATCACTGATCATTTGGCTTGGCCAGAGTAAGCAGTTTATTTTCAGCATTAGCATTGGGCA
AAAAATAAGCACCAAGCGAGGCTGTGTGAAAGGCATAGGCTTTCCTAACTAAGCACCTGCTGTA
TTTTTCTTCCTACCTGACATAGATTCTATGTTTTTATATCTTTGACATTTGCTTGTATTATTTA
CAACTGTATCCCTAGGTTTAAGCACAGCTCCAGGTATATATAGAAGCTCAATAGTCATTTGTTG
AGTGAAGAAACCAGATACTAATGGACAAATGTGTGATTTAACATTTTTGTCTGAACTTTATCTG
CCCATGGAACTGGTTCAAGAGCCGTGTTTTACATTCTTCCCCCCTTTGAA

hide sequence

RefSeq Acc Id:

XM_024447087 ⟹ XP_024302855

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	104,379,429 - 104,467,074 (-)	NCBI

Sequence:

show sequence

CGTCAGGCCGCCGGGCTCCGGATTTGCAGCCTGAGGCAGAGCTCGGGGGCTGTCGGTGGGGACC
TTGCAGGAGGGCACCCCAAGCCCGCCCGGCCCGCCCAACCCAGCCCCTGCGCGCAGCCCGGGCC
GAGTAGGACCCCGCGCGCCCCTCGCTATGGCGGCGCCCTCGCGGCTCCTGATCCGCGGGGGTCG
CGTGGTCAACGATGACTTCTCGGAGGTGGCCGACGTGCTGGTGGAGGACGGCGTGGTGCGGGCA
CTCGGGCACGACCTGCTGCCTCCCGGGGGCGCTCCTGCGGGGCTGCGGGTCCTCGACGCCGCCG
GCAAGCTCGTCCTGCCCGGAGGCATCGACACACACACGCACATGCAGTTCCCCTTCATGGGCTC
GCGGTCCATCGACGACTTCCACCAGGGCACCAAGGCTGCTCTCTCAGGAGGCACCACCATGATT
ATTGATTTCGCCATTCCTCAGAAAGGTGGCTCCCTCATTGAGGCCTTCGAGACCTGGCGAAGCT
GGGCTGATCCCAAAGTTTGCTGCGACTACAGCCTTCATGTGGCAGTGACGTGGTGGAGTGACCA
GGTTAAAGAAGAAATGAAAATCCTTGTGCAAGATAAAGGTGTTAACTCTTTCAAGATGTTTATG
GCCTATAAAGATCTGTACATGGTGACAGACCTGGAGCTGTACGAAGCCTTCTCTCGGTGCAAGG
AAATTGGAGCAATTGCCCAGGTCCATGCGGAAAATGGAGACTTAATTGCAGAGGGAGCAAAGAA
GATGTTGGCTCTGGGGATAACAGGCCCTGAGGGCCACGAGCTGTGCCGCCCAGAGGCAGTGGAG
GCAGAGGCCACGCTGAGAGCCATCACCATAGCCAGCGCTGTGAACTGTCCTCTCTACATTGTGC
ATGTGATGAGCAAGTCTGCAGCTAAGGTGATAGCGGATGCAAGGAGAGATGGGAAGGTGGTCTA
TGGTGAACCCATAGCAGCCAGTCTTGGCACAGATGGCACTCACTACTGGAATAAAGAATGGCAC
CATGCAGCCCACCATGTCATGGGTCCACCTTTGCGACCAGACCCCTCAACACCCGACTTCCTCA
TGAATCTGTTGGCTAATGATGATCTAACCACAACAGGGACTGATAACTGCACTTTCAACACCTG
CCAGAAAGCTCTTGGGAAGGATGATTTTACCAAGATCCCCAATGGGGTGAATGGTGTTGAAGAT
CGGATGTCCGTAATATGGGAAAAAGGCGTGCATAGTGGTAAAATGGATGAAAACAGATTTGTGG
CAGTTACCAGCACAAATGCAGCCAAAATTTTTAATCTCTATCCAAGAAAAGGAAGAATAGCTGT
AGGATCAGATGCTGACATTGTTATTTGGGACCCAAAAGGCACAAGAGGATGTAGAAGTTGTGTT
GCATTCTCTGACAATGGATCTGTATATAAAACCAATATGAATTTACCACTTCAGTGCCTGGCAA
ATGCCCGAGTTCACATGGAAGAAAGGACTATCTCAGCAAAAACTCATCATCAGGCTGTTAACTT
CAACATTTTCGAGGGCATGGTTTGCCACGGGGTGCCCCTTGTGACTATTTCAAGAGGCAAAGTG
GTATATGAAGCCGGAGTGTTCAGTGTCACGGCAGGAGATGGGAAGTTTATTCCTCGAAAACCAT
TTGCTGAATATATTTACAAACGAATAAAGCAGCGAGACCGGACTTGCACACCTACCCCTGTGGA
GCGTGCACCCTATAAGGGAGAAGTCGCCACACTGAAATCCAGAGTGACAAAAGAAGATGCCACA
GCAGGGACCAGGAAACAGGCCCACCCCTGAAGTGTGTGCCATCGACAGTTCAACACGTGGCCAT
CTGCACAAGACTTAACCCCAGAGGTTGACCTAATGGACCTGGTTAGACATTTGTGTTAATGAGA
GGCACAGTTTGACAACGGTCTGGTTTTCTACATATTCAGGCACTGCACCTTTTCACATTTTGAC
AACCTCTTATTCCCTGCATAAATCCTGTTCCTGCAGGGATTTGGATAATGAGGGCTTGAATGGC
AAAGCCCTCTGTGCTACATGCCATGTTCTTTCATTATTGAATGTTGTGTCTTTAACAGGACTAT
CTAGCCCAAAGTCTCAACATTTTTGTCATTTTCAGACGACCAGAATTATTCTTCTAATCTAGGA
TGATTTTGTTAAAAATTCAGGGAAAGATTAGCAAGAGAAAGGAATGCGATTCAATGCTATAACA
TGCTATTAATGACATTTATAGGAGCAGGATTAGTGTTTACTTTGATTATAGCATTTCTTGGGGG
TTAGGTTTGAATTCTGCATCTCTTTGTGAGGGAGAATGTTACAGTGAGTTCCTTTCATTCTCTT
CAAAGGTAAAAAAATCAGAGGAAAGGAGGCTGCCATTCCCTTCACAGCCAAACATTGTCAACCC
ATGGAGAAGCAGGCCTTATTCAACTCCCTAGGATCCTTTAGAAAAAATTCACCACTATAGGCTT
CTTTGATTTTCTTTCAGAAGCAATTGCTGTCTTTCTCACTGTGTTTTTGTTGCTGCATAAGATT
GAAGGTATAAATTTATATTATTGTGATGGAAAGGCTGTGTGGAAATTCATTGATGATACTTTAA
AATGTCATCTTTGCTTGTACTAGATTTCTTACTTAGAATTTTTAAAAATCATTTTCTTGTTTAA
ATAGTTTCTTTTTTTAAAAAAATGGTTACATTAGTTTTAAAATAGCTCTGTGATTTTACTTTTT
ATTGTAATTAATAAACATTGAGATCTTCATTTTATA

hide sequence

RefSeq Acc Id:

XR_001745489

RefSeq Status:

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	104,379,429 - 104,467,074 (-)	NCBI

Sequence:

show sequence

CGTCAGGCCGCCGGGCTCCGGATTTGCAGCCTGAGGCAGAGCTCGGGGGCTGTCGGTGGGGACC
TTGCAGGAGGGCACCCCAAGCCCGCCCGGCCCGCCCAACCCAGCCCCTGCGCGCAGCCCGGGCC
GAGTAGGACCCCGCGCGCCCCTCGCTATGGCGGCGCCCTCGCGGCTCCTGATCCGCGGGGGTCG
CGTGGTCAACGATGACTTCTCGGAGGTGGCCGACGTGCTGGTGGAGGACGGCGTGGTGCGGGCA
CTCGGGCACGACCTGCTGCCTCCCGGGGGCGCTCCTGCGGGGCTGCGGGTCCTCGACGCCGCCG
GCAAGCTCGTCCTGCCCGGAGGCATCGACACACACACGCACATGCAGTTCCCCTTCATGGGCTC
GCGGTCCATCGACGACTTCCACCAGGGCACCAAGGCTGCTCTCTCAGGAGGCACCACCATGATT
ATTGATTTCGCCATTCCTCAGAAAGGTGGCTCCCTCATTGAGGCCTTCGAGACCTGGCGAAGCT
GGGCTGATCCCAAAGTTTGCTGCGACTACAGCCTTCATGTGGCAGTGACGTGGTGGAGTGACCA
GGTTAAAGAAGAAATGAAAATCCTTGTGCAAGATAAAGGTGTTAACTCTTTCAAGATGTTTATG
GCCTATAAAGATCTGTACATGGTGACAGACCTGGAGCTGTACGAAGCCTTCTCTCGGTGCAAGG
AAATTGGAGCAATTGCCCAGGTCCATGCGGAAAATGGAGACTTAATTGCAGAGGGAGCAAAGAA
GATGTTGGCTCTGGGGATAACAGGCCCTGAGGGCCACGAGCTGTGCCGCCCAGAGGCAGTGGAG
GCAGAGGCCACGCTGAGAGCCATCACCATAGCCAGCGCTGTGAACTGTCCTCTCTACATTGTGC
ATGTGATGAGCAAGTCTGCAGCTAAGGTGATAGCGGATGCAAGGAGAGATGGGAAGGTGGTCTA
TGGTGAACCCATAGCAGCCAGTCTTGGCACAGATGGCACTCACTACTGGAATAAAGAATGGCAC
CATGCAGCCCACCATGTCATGGGTCCACCTTTGCGACCAGACCCCTCAACACCCGACTTCCTCA
TGAATCTGTTGGCTAATGATGATCTAACCACAACAGGGACTGATAACTGCACTTTCAACACCTG
CCAGAAAGCTCTTGGGAAGGATGATTTTACCAAGATCCCCAATGGGGTGAATGGTGTTGAAGAT
CGGATGTCCGTAATATGGGAAAAAGGCGTGCATAGTGGTAAAATGGATGAAAACAGATTTGTGG
CAGTTACCAGCACAAATGCAGCCAAAATTTTTAATCTCTATCCAAGAAAAGGAAGAATAGCTGT
AGGATCAGATGCTGACATTGTTATTTGGGACCCAAAAGGCACAAGAGGATGTAGAAGTTGTGTT
GCATTCTCTGACAATGGATCTGTATATAAAACCAATATGAATTTACCACTTCAGTGCCTGGCAA
ATGCCCGAGTTCACATGGAAGAAAGGTTGGAGCAACGAGTTTGTTAAGCAGAGCTCTTAGAGAG
ATGAAATGAAGCCAAAAGAGTCACCTTTGTGTGTTCCTTCATTCACAAATTCACTCTGCACAGG
AGCACCTCGGCAAGCCGCAGGCTGAGGGTCAAGCTTATACAACAGCCACACCCTGCCTTTAAGA
AGCTGACAGTCTAGGAGAGGAGAGGAGATGTAAAGTCAAATATTCTCAGCCTAAGAAGGGATGG
GTTAAGAATATCACACGAGAGGCAGAAACAAGATGCCTTAGAAATTCAAAGAAGAAAGATCATT
GTGGAGTTAGAGCAGTCATCGACATGAAATCGTACGAGAGAGGACTATCTCAGCAAAAACTCAT
CATCAGGCTGTTAACTTCAACATTTTCGAGGGCATGGTTTGCCACGGGGTGCCCCTTGTGACTA
TTTCAAGAGGCAAAGTGGTATATGAAGCCGGAGTGTTCAGTGTCACGGCAGGAGATGGGAAGTT
TATTCCTCGAAAACCATTTGCTGAATATATTTACAAACGAATAAAGCAGCGAGACCGGACTTGC
ACACCTACCCCTGTGGAGCGTGCACCCTATAAGGGAGAAGTCGCCACACTGAAATCCAGAGTGA
CAAAAGAAGATGCCACAGCAGGGACCAGGAAACAGGCCCACCCCTGAAGTGTGTGCCATCGGTA
AAAAAATCAGAGGAAAGGAGGCTGCCATTCCCTTCACAGCCAAACATTGTCAACCCATGGAGAA
GCAGGCCTTATTCAACTCCCTAGGATCCTTTAGAAAAAATTCACCACTATAGGCTTCTTTGATT
TTCTTTCAGAAGCAATTGCTGTCTTTCTCACTGTGTTTTTGTTGCTGCATAAGATTGAAGGTAT
AAATTTATATTATTGTGATGGAAAGGCTGTGTGGAAATTCATTGATGATACTTTAAAATGTCAT
CTTTGCTTGTACTAGATTTCTTACTTAGAATTTTTAAAAATCATTTTCTTGTTTAAATAGTTTC
TTTTTTTAAAAAAATGGTTACATTAGTTTTAAAATAGCTCTGTGATTTTACTTTTTATTGTAAT
TAATAAACATTGAGATCTTCATTTTATA

hide sequence

RefSeq Acc Id:

XR_001745490

RefSeq Status:

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	104,379,429 - 104,467,074 (-)	NCBI

Sequence:

show sequence

CGTCAGGCCGCCGGGCTCCGGATTTGCAGCCTGAGGCAGAGCTCGGGGGCTGTCGGTGGGGACC
TTGCAGGAGGGCACCCCAAGCCCGCCCGGCCCGCCCAACCCAGCCCCTGCGCGCAGCCCGGGCC
GAGTAGGACCCCGCGCGCCCCTCGCTATGGCGGCGCCCTCGCGGCTCCTGATCCGCGGGGGTCG
CGTGGTCAACGATGACTTCTCGGAGGTGGCCGACGTGCTGGTGGAGGACGGCGTGGTGCGGGCA
CTCGGGCACGACCTGCTGCCTCCCGGGGGCGCTCCTGCGGGGCTGCGGGTCCTCGACGCCGCCG
GCAAGCTCGTCCTGCCCGGAGGCATCGACACACACACGCACATGCAGTTCCCCTTCATGGGCTC
GCGGTCCATCGACGACTTCCACCAGGGCACCAAGGCTGCTCTCTCAGGAGGCACCACCATGATT
ATTGATTTCGCCATTCCTCAGAAAGGTGGCTCCCTCATTGAGGCCTTCGAGACCTGGCGAAGCT
GGGCTGATCCCAAAGTTTGCTGCGACTACAGCCTTCATGTGGCAGTGACGTGGTGGAGTGACCA
GGTTAAAGAAGAAATGAAAATCCTTGTGCAAGATAAAGGTGTTAACTCTTTCAAGATGTTTATG
GCCTATAAAGATCTGTACATGGTGACAGACCTGGAGCTGTACGAAGCCTTCTCTCGGTGCAAGG
AAATTGGAGCAATTGCCCAGGTCCATGCGGAAAATGGAGACTTAATTGCAGAGGGAGCAAAGAA
GATGTTGGCTCTGGGGATAACAGGCCCTGAGGGCCACGAGCTGTGCCGCCCAGAGGCAGTGGAG
GCAGAGGCCACGCTGAGAGCCATCACCATAGCCAGCGCTGTGAACTGTCCTCTCTACATTGTGC
ATGTGATGAGCAAGTCTGCAGCTAAGGTGATAGCGGATGCAAGGAGAGATGGGAAGGTGGTCTA
TGGTGAACCCATAGCAGCCAGTCTTGGCACAGATGGCACTCACTACTGGAATAAAGAATGGCAC
CATGCAGCCCACCATGTCATGGGTCCACCTTTGCGACCAGACCCCTCAACACCCGACTTCCTCA
TGAATCTGTTGGCTAATGATGATCTAACCACAACAGGGACTGATAACTGCACTTTCAACACCTG
CCAGAAAGCTCTTGGGAAGGATGATTTTACCAAGATCCCCAATGGGGTGAATGGTGTTGAAGAT
CGGATGTCCGTAATATGGGAAAAAGGCGTGCATAGTGGTAAAATGGATGAAAACAGATTTGTGG
CAGTTACCAGCACAAATGCAGCCAAAATTTTTAATCTCTATCCAAGAAAAGGAAGAATAGCTGT
AGGATCAGATGCTGACATTGTTATTTGGGACCCAAAAGGCACAAGGTTGGAGCAACGAGTTTGT
TAAGCAGAGCTCTTAGAGAGATGAAATGAAGCCAAAAGAGTCACCTTTGTGTGTTCCTTCATTC
ACAAATTCACTCTGCACAGGAGCACCTCGGCAAGCCGCAGGCTGAGGGTCAAGCTTATACAACA
GCCACACCCTGCCTTTAAGAAGCTGACAGTCTAGGAGAGGAGAGGAGATGTAAAGTCAAATATT
CTCAGCCTAAGAAGGGATGGGTTAAGAATATCACACGAGAGGCAGAAACAAGATGCCTTAGAAA
TTCAAAGAAGAAAGATCATTGTGGAGTTAGAGCAGTCATCGACATGAAATCGTACGAGAGAGGA
CTATCTCAGCAAAAACTCATCATCAGGCTGTTAACTTCAACATTTTCGAGGGCATGGTTTGCCA
CGGGGTGCCCCTTGTGACTATTTCAAGAGGCAAAGTGGTATATGAAGCCGGAGTGTTCAGTGTC
ACGGCAGGAGATGGGAAGTTTATTCCTCGAAAACCATTTGCTGAATATATTTACAAACGAATAA
AGCAGCGAGACCGGACTTGCACACCTACCCCTGTGGAGCGTGCACCCTATAAGGGAGAAGTCGC
CACACTGAAATCCAGAGTGACAAAAGAAGATGCCACAGCAGGGACCAGGAAACAGGCCCACCCC
TGAAGTGTGTGCCATCGGTAAAAAAATCAGAGGAAAGGAGGCTGCCATTCCCTTCACAGCCAAA
CATTGTCAACCCATGGAGAAGCAGGCCTTATTCAACTCCCTAGGATCCTTTAGAAAAAATTCAC
CACTATAGGCTTCTTTGATTTTCTTTCAGAAGCAATTGCTGTCTTTCTCACTGTGTTTTTGTTG
CTGCATAAGATTGAAGGTATAAATTTATATTATTGTGATGGAAAGGCTGTGTGGAAATTCATTG
ATGATACTTTAAAATGTCATCTTTGCTTGTACTAGATTTCTTACTTAGAATTTTTAAAAATCAT
TTTCTTGTTTAAATAGTTTCTTTTTTTAAAAAAATGGTTACATTAGTTTTAAAATAGCTCTGTG
ATTTTACTTTTTATTGTAATTAATAAACATTGAGATCTTCATTTTATA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001376	(Get FASTA)	NCBI Sequence Viewer
	XP_005250875	(Get FASTA)	NCBI Sequence Viewer
	XP_006716581	(Get FASTA)	NCBI Sequence Viewer
	XP_011515205	(Get FASTA)	NCBI Sequence Viewer
	XP_016868656	(Get FASTA)	NCBI Sequence Viewer
	XP_024302855	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH34395	(Get FASTA)	NCBI Sequence Viewer
	BAA11189	(Get FASTA)	NCBI Sequence Viewer
	BAA33067	(Get FASTA)	NCBI Sequence Viewer
	CAH05690	(Get FASTA)	NCBI Sequence Viewer
	EAW91893	(Get FASTA)	NCBI Sequence Viewer
	Q14117	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_001376 ⟸ NM_001385

- UniProtKB:

Q14117 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MAAPSRLLIRGGRVVNDDFSEVADVLVEDGVVRALGHDLLPPGGAPAGLRVLDAAGKLVLPGGI
DTHTHMQFPFMGSRSIDDFHQGTKAALSGGTTMIIDFAIPQKGGSLIEAFETWRSWADPKVCCD
YSLHVAVTWWSDQVKEEMKILVQDKGVNSFKMFMAYKDLYMVTDLELYEAFSRCKEIGAIAQVH
AENGDLIAEGAKKMLALGITGPEGHELCRPEAVEAEATLRAITIASAVNCPLYIVHVMSKSAAK
VIADARRDGKVVYGEPIAASLGTDGTHYWNKEWHHAAHHVMGPPLRPDPSTPDFLMNLLANDDL
TTTGTDNCTFNTCQKALGKDDFTKIPNGVNGVEDRMSVIWEKGVHSGKMDENRFVAVTSTNAAK
IFNLYPRKGRIAVGSDADIVIWDPKGTRTISAKTHHQAVNFNIFEGMVCHGVPLVTISRGKVVY
EAGVFSVTAGDGKFIPRKPFAEYIYKRIKQRDRTCTPTPVERAPYKGEVATLKSRVTKEDATAG
TRKQAHP

hide sequence

RefSeq Acc Id:

XP_005250875 ⟸ XM_005250818

- Peptide Label:

isoform X1

- Sequence:

show sequence

MAAPSRLLIRGGRVVNDDFSEVADVLVEDGVVRALGHDLLPPGGAPAGLRVLDAAGKLVLPGGI
DTHTHMQFPFMGSRSIDDFHQGTKAALSGGTTMIIDFAIPQKGGSLIEAFETWRSWADPKVCCD
YSLHVAVTWWSDQVKEEMKILVQDKGVNSFKMFMAYKDLYMVTDLELYEAFSRCKEIGAIAQVH
AENGDLIAEGAKKMLALGITGPEGHELCRPEAVEAEATLRAITIASAVNCPLYIVHVMSKSAAK
VIADARRDGKVVYGEPIAASLGTDGTHYWNKEWHHAAHHVMGPPLRPDPSTPDFLMNLLANDDL
TTTGTDNCTFNTCQKALGKDDFTKIPNGVNGVEDRMSVIWEKGVHSGKMDENRFVAVTSTNAAK
IFNLYPRKGRIAVGSDADIVIWDPKGTRGCRSCVAFSDNGSVYKTNMNLPLQCLANARVHMEER
TISAKTHHQAVNFNIFEGMVCHGVPLVTISRGKVVYEAGVFSVTAGDGKFIPRKPFAEYIYKRI
KQRDRTCTPTPVERAPYKGEVATLKSRVTKEDATAGTRKQAHP

hide sequence

RefSeq Acc Id:

XP_006716581 ⟸ XM_006716518

- Peptide Label:

isoform X3

- Sequence:

show sequence

MAAPSRLLIRGGRVVNDDFSEVADVLVEDGVVRALGHDLLPPGGAPAGLRVLDAAGKLVLPGGI
DTHTHMQFPFMGSRSIDDFHQGTKVKEEMKILVQDKGVNSFKMFMAYKDLYMVTDLELYEAFSR
CKEIGAIAQVHAENGDLIAEGAKKMLALGITGPEGHELCRPEAVEAEATLRAITIASAVNCPLY
IVHVMSKSAAKVIADARRDGKVVYGEPIAASLGTDGTHYWNKEWHHAAHHVMGPPLRPDPSTPD
FLMNLLANDDLTTTGTDNCTFNTCQKALGKDDFTKIPNGVNGVEDRMSVIWEKGVHSGKMDENR
FVAVTSTNAAKIFNLYPRKGRIAVGSDADIVIWDPKGTRGCRSCVAFSDNGSVYKTNMNLPLQC
LANARVHMEERTISAKTHHQAVNFNIFEGMVCHGVPLVTISRGKVVYEAGVFSVTAGDGKFIPR
KPFAEYIYKRIKQRDRTCTPTPVERAPYKGEVATLKSRVTKEDATAGTRKQAHP

hide sequence

RefSeq Acc Id:

XP_011515205 ⟸ XM_011516903

- Peptide Label:

isoform X2

- Sequence:

show sequence

MAAPSRLLIRGGRVVNDDFSEVADVLVEDGVVRALGHDLLPPGGAPAGLRVLDAAGKLVLPGGI
DTHTHMQFPFMGSRSIDDFHQGTKAALSGGTTMIIDFAIPQKGGSLIEAFETWRSWADPKVCCD
YSLHVAVTWWSDQVKEEMKILVQDKGVNSFKMFMAYKDLYMVTDLELYEAFSRCKEIGAIAQVH
AENGDLIAEGAKKMLALGITGPEGHELCRPEAVEAEATLRAITIASAVNCPLYIVHVMSKSAAK
VIADARRDGKVVYGEPIAASLGTDGTHYWNKEWHHAAHHVMGPPLRPDPSTPDFLMNLLANDDL
TTTGTDNCTFNTCQKALGKDDFTKIPNGVNGVEDRMSVIWEKGVHSGKMDENRFVAVTSTNAAK
IFNLYPRKGRIAVGSDADIVIWDPKGTRGCRSCVAFSDNGSVYKTNMNLPLQCLANARVHMEER
TISAKTHHQAVNFNIFEGMVCHGVPLVTISRGKVVYEAGVFSVTAGDGKFIPRKPFAEYIYKRI
KQRDR

hide sequence

RefSeq Acc Id:

XP_016868656 ⟸ XM_017013167

- Peptide Label:

isoform X4

- Sequence:

show sequence

MAAPSRLLIRGGRVVNDDFSEVADVLVEDGVVRALGHDLLPPGGAPAGLRVLDAAGKLVLPGGI
DTHTHMQFPFMGSRSIDDFHQGTKAALSGGTTMIIDFAIPQKGGSLIEAFETWRSWADPKVCCD
YSLHVAVTWWSDQVKEEMKILVQDKGVNSFKMFMAYKDLYMVTDLELYEAFSRCKEIGAIAQVH
AENGDLIAEGAKKMLALGITGPEGHELCRPEAVEAEATLRAITIASAVNCPLYIVHVMSKSAAK
VIADARRDGKVVYGEPIAASLGTDGTHYWNKEWHHAAHHVMGPPLRPDPSTPDFLMNLLANDDL
TTTGTDNCTFNTCQKALGKDDFTKIPNGVNGVEDRMSVIWEKGVHSGKMDENRFVAVTSTNAAK
IFNLYPRKGRIAVGSDADIVIWDPKGTRGCRSCVAFSDNGSVYKTNMNLPLQCLANARVHMEER
LEQRVC

hide sequence

RefSeq Acc Id:

XP_024302855 ⟸ XM_024447087

- Peptide Label:

isoform X1

- Sequence:

show sequence

MAAPSRLLIRGGRVVNDDFSEVADVLVEDGVVRALGHDLLPPGGAPAGLRVLDAAGKLVLPGGI
DTHTHMQFPFMGSRSIDDFHQGTKAALSGGTTMIIDFAIPQKGGSLIEAFETWRSWADPKVCCD
YSLHVAVTWWSDQVKEEMKILVQDKGVNSFKMFMAYKDLYMVTDLELYEAFSRCKEIGAIAQVH
AENGDLIAEGAKKMLALGITGPEGHELCRPEAVEAEATLRAITIASAVNCPLYIVHVMSKSAAK
VIADARRDGKVVYGEPIAASLGTDGTHYWNKEWHHAAHHVMGPPLRPDPSTPDFLMNLLANDDL
TTTGTDNCTFNTCQKALGKDDFTKIPNGVNGVEDRMSVIWEKGVHSGKMDENRFVAVTSTNAAK
IFNLYPRKGRIAVGSDADIVIWDPKGTRGCRSCVAFSDNGSVYKTNMNLPLQCLANARVHMEER
TISAKTHHQAVNFNIFEGMVCHGVPLVTISRGKVVYEAGVFSVTAGDGKFIPRKPFAEYIYKRI
KQRDRTCTPTPVERAPYKGEVATLKSRVTKEDATAGTRKQAHP

hide sequence

RefSeq Acc Id:

ENSP00000436654 ⟸ ENST00000533874

RefSeq Acc Id:

ENSP00000430246 ⟸ ENST00000521573

RefSeq Acc Id:

ENSP00000276651 ⟸ ENST00000351513

Promoters

RGD ID:

7213957

Promoter ID:

EPDNEW_H12725

Type:

initiation region

Name:

DPYS_2

Description:

dihydropyrimidinase

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H12726

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	104,418,889 - 104,418,949	EPDNEW

RGD ID:

7213961

Promoter ID:

EPDNEW_H12726

Type:

multiple initiation site

Name:

DPYS_1

Description:

dihydropyrimidinase

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H12725

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	104,467,055 - 104,467,115	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001385.3(DPYS):c.1001A>G (p.Gln334Arg)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000000207]	Chr8:104428071 [GRCh38] Chr8:105440299 [GRCh37] Chr8:8q22.3	pathogenic
NM_001385.3(DPYS):c.1303G>A (p.Gly435Arg)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000000208]	Chr8:104392924 [GRCh38] Chr8:105405152 [GRCh37] Chr8:8q22.3	pathogenic
NM_001385.3(DPYS):c.1078T>C (p.Trp360Arg)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000000209]	Chr8:104427994 [GRCh38] Chr8:105440222 [GRCh37] Chr8:8q22.3	pathogenic
NM_001385.3(DPYS):c.1235G>T (p.Arg412Met)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000000210]	Chr8:104424247 [GRCh38] Chr8:105436475 [GRCh37] Chr8:8q22.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	copy number gain	See cases [RCV000051206]	Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]\|See cases [RCV000053677]	Chr8:95606052..145054775 [GRCh38] Chr8:96618280..146280161 [GRCh37] Chr8:96687456..146250965 [NCBI36] Chr8:8q22.1-24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000053602]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|See cases [RCV000053604]	Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
NM_001385.2(DPYS):c.1443+3047A>G	single nucleotide variant	Lung cancer [RCV000106762]	Chr8:104389737 [GRCh38] Chr8:105401965 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.1506del (p.Arg503fs)	deletion	not provided [RCV000086515]	Chr8:104381252 [GRCh38] Chr8:105393480 [GRCh37] Chr8:8q22.3	conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_001385.3(DPYS):c.1412A>G (p.Tyr471Cys)	single nucleotide variant	not provided [RCV000086516]	Chr8:104392815 [GRCh38] Chr8:105405043 [GRCh37] Chr8:8q22.3	not provided
NM_001385.3(DPYS):c.1307T>C (p.Val436Ala)	single nucleotide variant	not provided [RCV000086517]	Chr8:104392920 [GRCh38] Chr8:105405148 [GRCh37] Chr8:8q22.3	not provided
NM_001385.3(DPYS):c.1093-47C>A	single nucleotide variant	not provided [RCV000086518]	Chr8:104424436 [GRCh38] Chr8:105436664 [GRCh37] Chr8:8q22.3	not provided
NM_001385.3(DPYS):c.1092+38C>T	single nucleotide variant	not provided [RCV000086519]	Chr8:104427942 [GRCh38] Chr8:105440170 [GRCh37] Chr8:8q22.3	not provided
NM_001385.3(DPYS):c.1092+9C>T	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000278454]\|not provided [RCV000086520]	Chr8:104427971 [GRCh38] Chr8:105440199 [GRCh37] Chr8:8q22.3	benign\|uncertain significance\|not provided
NM_001385.3(DPYS):c.1062T>C (p.Asp354=)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000335818]\|not provided [RCV000086521]	Chr8:104428010 [GRCh38] Chr8:105440238 [GRCh37] Chr8:8q22.3	benign\|likely benign\|not provided
NM_001385.3(DPYS):c.1029C>G (p.Thr343=)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000400960]\|not provided [RCV000086522]	Chr8:104428043 [GRCh38] Chr8:105440271 [GRCh37] Chr8:8q22.3	benign\|uncertain significance\|not provided
NM_001385.3(DPYS):c.1002G>A (p.Gln334=)	single nucleotide variant	not provided [RCV000086523]	Chr8:104428070 [GRCh38] Chr8:105440298 [GRCh37] Chr8:8q22.3	not provided
NM_001385.3(DPYS):c.765T>C (p.Ala255=)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001164625]\|not provided [RCV000086524]	Chr8:104444276 [GRCh38] Chr8:105456504 [GRCh37] Chr8:8q22.3	benign\|not provided
NM_001385.3(DPYS):c.541C>T (p.Arg181Trp)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000267904]\|not provided [RCV000086525]	Chr8:104447386 [GRCh38] Chr8:105459614 [GRCh37] Chr8:8q22.3	benign\|likely benign\|not provided
NM_001385.3(DPYS):c.424-62G>T	single nucleotide variant	not provided [RCV000086526]	Chr8:104447565 [GRCh38] Chr8:105459793 [GRCh37] Chr8:8q22.3	not provided
NM_001385.3(DPYS):c.265-58T>C	single nucleotide variant	not provided [RCV000086527]	Chr8:104451462 [GRCh38] Chr8:105463690 [GRCh37] Chr8:8q22.3	not provided
NM_001385.3(DPYS):c.264+34C>G	single nucleotide variant	not provided [RCV000086528]	Chr8:104466623 [GRCh38] Chr8:105478851 [GRCh37] Chr8:8q22.3	not provided
NM_001385.3(DPYS):c.264+30G>A	single nucleotide variant	not provided [RCV000086529]	Chr8:104466627 [GRCh38] Chr8:105478855 [GRCh37] Chr8:8q22.3	not provided
NM_001385.3(DPYS):c.264+5C>T	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001159708]\|not provided [RCV000086530]	Chr8:104466652 [GRCh38] Chr8:105478880 [GRCh37] Chr8:8q22.3	uncertain significance\|not provided
NM_001385.3(DPYS):c.216C>T (p.Phe72=)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000304376]\|not provided [RCV000086531]	Chr8:104466705 [GRCh38] Chr8:105478933 [GRCh37] Chr8:8q22.3	benign\|not provided
NM_001385.3(DPYS):c.19C>G (p.Leu7Val)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000264226]\|not provided [RCV000086532]	Chr8:104466902 [GRCh38] Chr8:105479130 [GRCh37] Chr8:8q22.3	likely benign\|not provided
NM_001385.3(DPYS):c.15G>A (p.Ser5=)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000374094]\|not provided [RCV000086533]	Chr8:104466906 [GRCh38] Chr8:105479134 [GRCh37] Chr8:8q22.3	benign\|likely benign\|not provided
NM_001385.3(DPYS):c.-1T>C	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000260513]\|not provided [RCV000086534]	Chr8:104466921 [GRCh38] Chr8:105479149 [GRCh37] Chr8:8q22.3	benign\|not provided
NM_001385.3(DPYS):c.-104T>C	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000315797]\|not provided [RCV000086535]	Chr8:104467024 [GRCh38] Chr8:105479252 [GRCh37] Chr8:8q22.3	likely benign\|uncertain significance\|not provided
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	copy number gain	See cases [RCV000134353]	Chr8:94682154..145068656 [GRCh38] Chr8:95694382..146294042 [GRCh37] Chr8:95763558..146264846 [NCBI36] Chr8:8q22.1-24.3	pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1	copy number loss	See cases [RCV000134099]	Chr8:101884819..107356143 [GRCh38] Chr8:102897047..108368371 [GRCh37] Chr8:102966223..108437547 [NCBI36] Chr8:8q22.3-23.1	pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	copy number gain	See cases [RCV000135621]	Chr8:86300584..137022587 [GRCh38] Chr8:87312813..138034830 [GRCh37] Chr8:87381929..138104012 [NCBI36] Chr8:8q21.3-24.23	pathogenic\|likely pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1	copy number loss	See cases [RCV000136812]	Chr8:101199826..105802098 [GRCh38] Chr8:102212054..106814326 [GRCh37] Chr8:102281230..106883502 [NCBI36] Chr8:8q22.3-23.1	pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1	copy number loss	See cases [RCV000138134]	Chr8:101171263..109127664 [GRCh38] Chr8:102183491..110139893 [GRCh37] Chr8:102252667..110209069 [NCBI36] Chr8:8q22.3-23.1	pathogenic
NM_001385.3(DPYS):c.1423C>T (p.Arg475Ter)	single nucleotide variant	not provided [RCV000514407]	Chr8:104392804 [GRCh38] Chr8:105405032 [GRCh37] Chr8:8q22.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	copy number gain	See cases [RCV000138643]	Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	copy number gain	See cases [RCV000138551]	Chr8:87931152..145068712 [GRCh38] Chr8:88943380..146294098 [GRCh37] Chr8:89012496..146264902 [NCBI36] Chr8:8q21.3-24.3	pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	copy number gain	See cases [RCV000139036]	Chr8:77480050..145068712 [GRCh38] Chr8:78392286..146294098 [GRCh37] Chr8:78554841..146264902 [NCBI36] Chr8:8q21.13-24.3	pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	copy number gain	See cases [RCV000140447]	Chr8:97382873..145070385 [GRCh38] Chr8:98395101..146295771 [GRCh37] Chr8:98464277..146266575 [NCBI36] Chr8:8q22.1-24.3	pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	copy number gain	See cases [RCV000139539]	Chr8:46031340..139285494 [GRCh38] Chr8:46942962..140297737 [GRCh37] Chr8:47062127..140366919 [NCBI36] Chr8:8q11.1-24.3	pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	copy number gain	See cases [RCV000141694]	Chr8:100867343..145070385 [GRCh38] Chr8:101879571..146295771 [GRCh37] Chr8:101948747..146266575 [NCBI36] Chr8:8q22.3-24.3	pathogenic
GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1	copy number loss	See cases [RCV000141697]	Chr8:100179408..106524667 [GRCh38] Chr8:101191636..107536895 [GRCh37] Chr8:101260812..107606071 [NCBI36] Chr8:8q22.2-23.1	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	copy number gain	See cases [RCV000141808]	Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	copy number gain	See cases [RCV000142021]	Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3	pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	copy number gain	See cases [RCV000142810]	Chr8:103306336..145068712 [GRCh38] Chr8:104318564..146294098 [GRCh37] Chr8:104387740..146264902 [NCBI36] Chr8:8q22.3-24.3	pathogenic\|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	copy number gain	See cases [RCV000142858]	Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	copy number gain	See cases [RCV000142597]	Chr8:78614077..145054634 [GRCh38] Chr8:79526312..146280020 [GRCh37] Chr8:79688867..146250824 [NCBI36] Chr8:8q21.13-24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000148092]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	copy number gain	See cases [RCV000143659]	Chr8:85765999..145070385 [GRCh38] Chr8:86778228..146295771 [GRCh37] Chr8:86863079..146266575 [NCBI36] Chr8:8q21.2-24.3	pathogenic
NM_001385.3(DPYS):c.424-1G>A	single nucleotide variant	not provided [RCV000319296]	Chr8:104447504 [GRCh38] Chr8:105459732 [GRCh37] Chr8:8q22.3	pathogenic
NM_001385.2(DPYS):c.-154C>G	single nucleotide variant	not provided [RCV000086536]	Chr8:104467074 [GRCh38] Chr8:105479302 [GRCh37] Chr8:8q22.3	not provided
NM_001385.3(DPYS):c.1350C>T (p.Ala450=)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000397072]\|not provided [RCV000969543]	Chr8:104392877 [GRCh38] Chr8:105405105 [GRCh37] Chr8:8q22.3	benign\|likely benign
NM_001385.3(DPYS):c.793+10G>T	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000401227]\|not provided [RCV000949529]	Chr8:104444238 [GRCh38] Chr8:105456466 [GRCh37] Chr8:8q22.3	benign\|likely benign\|uncertain significance
NM_001385.3(DPYS):c.*408A>G	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000325127]	Chr8:104379450 [GRCh38] Chr8:105391678 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.*205G>A	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000328612]	Chr8:104379653 [GRCh38] Chr8:105391881 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.*70A>T	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000350959]	Chr8:104379788 [GRCh38] Chr8:105392016 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.*344T>A	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000290040]	Chr8:104379514 [GRCh38] Chr8:105391742 [GRCh37] Chr8:8q22.3	benign\|likely benign
NM_001385.3(DPYS):c.817A>G (p.Ile273Val)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000339464]	Chr8:104429678 [GRCh38] Chr8:105441906 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.672A>G (p.Ala224=)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000307946]\|not provided [RCV000974239]	Chr8:104444369 [GRCh38] Chr8:105456597 [GRCh37] Chr8:8q22.3	benign\|likely benign
NM_001385.3(DPYS):c.603+5G>A	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000362633]	Chr8:104447319 [GRCh38] Chr8:105459547 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.166_169del	deletion	Dihydropyrimidinase deficiency [RCV000293522]	Chr8:104379689..104379692 [GRCh38] Chr8:105391917..105391920 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.131G>T (p.Gly44Val)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000359048]	Chr8:104466790 [GRCh38] Chr8:105479018 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.*200T>C	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000385483]	Chr8:104379658 [GRCh38] Chr8:105391886 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.17G>A (p.Arg6Gln)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000319472]	Chr8:104466904 [GRCh38] Chr8:105479132 [GRCh37] Chr8:8q22.3	benign\|likely benign
NM_001385.3(DPYS):c.*351dup	duplication	Dihydropyrimidinase deficiency [RCV000382124]	Chr8:104379506..104379507 [GRCh38] Chr8:105391734..105391735 [GRCh37] Chr8:8q22.3	likely benign
NM_001385.3(DPYS):c.856A>T (p.Asn286Tyr)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000300842]	Chr8:104429639 [GRCh38] Chr8:105441867 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.1137C>A (p.Ser379Arg)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000779549]\|not provided [RCV000413409]	Chr8:104424345 [GRCh38] Chr8:105436573 [GRCh37] Chr8:8q22.3	likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	copy number gain	See cases [RCV000447507]	Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_001385.3(DPYS):c.352C>T (p.Arg118Ter)	single nucleotide variant	not provided [RCV000422814]	Chr8:104451317 [GRCh38] Chr8:105463545 [GRCh37] Chr8:8q22.3	likely pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	copy number gain	See cases [RCV000448954]	Chr8:98432250..146222672 [GRCh37] Chr8:8q22.1-24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	copy number gain	See cases [RCV000510234]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q22.3-23.1(chr8:105388734-106601051)x3	copy number gain	See cases [RCV000510148]	Chr8:105388734..106601051 [GRCh37] Chr8:8q22.3-23.1	uncertain significance
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	copy number gain	See cases [RCV000511761]	Chr8:93047482..141355635 [GRCh37] Chr8:8q21.3-24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	copy number gain	See cases [RCV000511095]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	copy number gain	See cases [RCV000511002]	Chr8:86841154..146295771 [GRCh37] Chr8:8q21.2-24.3	pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	copy number gain	See cases [RCV000510854]	Chr8:86841228..142689874 [GRCh37] Chr8:8q21.2-24.3	pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	copy number gain	See cases [RCV000512169]	Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3	pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	copy number gain	not provided [RCV000683045]	Chr8:86841154..116518125 [GRCh37] Chr8:8q21.2-23.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3	copy number gain	not provided [RCV000747254]	Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3	copy number gain	not provided [RCV000747248]	Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_001385.3(DPYS):c.528C>T (p.Tyr176=)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001164627]\|not provided [RCV000970682]	Chr8:104447399 [GRCh38] Chr8:105459627 [GRCh37] Chr8:8q22.3	benign\|likely benign
NM_001385.3(DPYS):c.1393C>T (p.Arg465Ter)	single nucleotide variant	not provided [RCV001069989]	Chr8:104392834 [GRCh38] Chr8:105405062 [GRCh37] Chr8:8q22.3	pathogenic
NM_001385.3(DPYS):c.242A>G (p.Asp81Gly)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000779550]	Chr8:104466679 [GRCh38] Chr8:105478907 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.905G>A (p.Arg302Gln)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV000778155]	Chr8:104429590 [GRCh38] Chr8:105441818 [GRCh37] Chr8:8q22.3	likely pathogenic
NM_001385.3(DPYS):c.1167T>C (p.Tyr389=)	single nucleotide variant	not provided [RCV000977730]	Chr8:104424315 [GRCh38] Chr8:105436543 [GRCh37] Chr8:8q22.3	likely benign
NM_001385.3(DPYS):c.489C>T (p.Ala163=)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001164628]	Chr8:104447438 [GRCh38] Chr8:105459666 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.29G>A (p.Arg10His)	single nucleotide variant	not provided [RCV000894451]	Chr8:104466892 [GRCh38] Chr8:105479120 [GRCh37] Chr8:8q22.3	likely benign
NM_001385.3(DPYS):c.529G>A (p.Glu177Lys)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001164626]	Chr8:104447398 [GRCh38] Chr8:105459626 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.461G>C (p.Gly154Ala)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001164629]	Chr8:104447466 [GRCh38] Chr8:105459694 [GRCh37] Chr8:8q22.3	uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	copy number gain	not provided [RCV000848192]	Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3	pathogenic
GRCh37/hg19 8q22.3(chr8:104878013-105555692)x3	copy number gain	not provided [RCV000849601]	Chr8:104878013..105555692 [GRCh37] Chr8:8q22.3	uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not provided [RCV000848478]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1	copy number loss	not provided [RCV000847013]	Chr8:104437051..114170843 [GRCh37] Chr8:8q22.3-23.3	uncertain significance
NM_001385.3(DPYS):c.169A>G (p.Lys57Glu)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001159710]	Chr8:104466752 [GRCh38] Chr8:105478980 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.1469G>A (p.Arg490His)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001160988]	Chr8:104381289 [GRCh38] Chr8:105393517 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.1433A>C (p.Gln478Pro)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001160989]	Chr8:104392794 [GRCh38] Chr8:105405022 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.1515_1518del (p.Glu507fs)	deletion	not provided [RCV000903079]	Chr8:104381240..104381243 [GRCh38] Chr8:105393468..105393471 [GRCh37] Chr8:8q22.3	likely benign
NM_001385.3(DPYS):c.339C>T (p.Ala113=)	single nucleotide variant	not provided [RCV000923993]	Chr8:104451330 [GRCh38] Chr8:105463558 [GRCh37] Chr8:8q22.3	likely benign
NM_001385.3(DPYS):c.1063C>T (p.Arg355Trp)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001162576]	Chr8:104428009 [GRCh38] Chr8:105440237 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.*345A>T	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001159602]	Chr8:104379513 [GRCh38] Chr8:105391741 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.381C>T (p.Cys127=)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001159705]	Chr8:104451288 [GRCh38] Chr8:105463516 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.177C>G (p.Val59=)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001159709]	Chr8:104466744 [GRCh38] Chr8:105478972 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.111C>T (p.His37=)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001161117]	Chr8:104466810 [GRCh38] Chr8:105479038 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.342C>T (p.Phe114=)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001159706]	Chr8:104451327 [GRCh38] Chr8:105463555 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.264+10C>T	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001159707]	Chr8:104466647 [GRCh38] Chr8:105478875 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.*148C>T	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001160985]	Chr8:104379710 [GRCh38] Chr8:105391938 [GRCh37] Chr8:8q22.3	benign
NM_001385.3(DPYS):c.*65T>C	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001160986]	Chr8:104379793 [GRCh38] Chr8:105392021 [GRCh37] Chr8:8q22.3	benign
NM_001385.3(DPYS):c.*14G>A	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001160987]	Chr8:104381184 [GRCh38] Chr8:105393412 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.-93A>T	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001161118]	Chr8:104467013 [GRCh38] Chr8:105479241 [GRCh37] Chr8:8q22.3	uncertain significance
NM_001385.3(DPYS):c.175G>T (p.Val59Phe)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001248855]	Chr8:104466746 [GRCh38] Chr8:105478974 [GRCh37] Chr8:8q22.3	pathogenic
NM_001385.3(DPYS):c.750G>A (p.Met250Ile)	single nucleotide variant	Dihydropyrimidinase deficiency [RCV001248827]	Chr8:104444291 [GRCh38] Chr8:105456519 [GRCh37] Chr8:8q22.3	pathogenic

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:3013	AgrOrtholog
COSMIC	DPYS	COSMIC
Ensembl Genes	ENSG00000147647	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000276651	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000430246	UniProtKB/TrEMBL
	ENSP00000436654	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000351513	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000521573	UniProtKB/TrEMBL
	ENST00000533874	UniProtKB/TrEMBL
Gene3D-CATH	2.30.40.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000147647	GTEx
HGNC ID	HGNC:3013	ENTREZGENE
Human Proteome Map	DPYS	Human Proteome Map
InterPro	Amidohydro-rel	UniProtKB/Swiss-Prot
	Hydantoinase/dihydroPyrase	UniProtKB/Swiss-Prot
	Metal-dep_hydrolase_composite	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Metal_Hydrolase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:1807	UniProtKB/Swiss-Prot
NCBI Gene	1807	ENTREZGENE
OMIM	222748	OMIM
	613326	OMIM
Pfam	Amidohydro_1	UniProtKB/Swiss-Prot
PharmGKB	DPYS	RGD, PharmGKB
Superfamily-SCOP	SSF51338	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF51556	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs	D-hydantoinase	UniProtKB/Swiss-Prot
UniProt	DPYS_HUMAN	UniProtKB/Swiss-Prot
	E5RG28_HUMAN	UniProtKB/TrEMBL
	H0YEV7_HUMAN	UniProtKB/TrEMBL
	Q14117	ENTREZGENE

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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)