DPYS (dihydropyrimidinase) - Rat Genome Database
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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 ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8104,330,324 - 104,467,055 (-)EnsemblGRCh38hg38GRCh38
GRCh388104,379,429 - 104,467,074 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378105,391,659 - 105,479,283 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368105,460,829 - 105,548,453 (-)NCBINCBI36hg18NCBI36
Build 348105,460,828 - 105,548,453NCBI
Celera8101,578,319 - 101,665,933 (-)NCBI
Cytogenetic Map8q22.3NCBI
HuRef8100,592,683 - 100,680,266 (-)NCBIHuRef
CHM1_18105,432,468 - 105,520,073 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

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 AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8104,330,324 - 104,467,055 (-)EnsemblGRCh38hg38GRCh38
GRCh388104,379,429 - 104,467,074 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378105,391,659 - 105,479,283 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368105,460,829 - 105,548,453 (-)NCBINCBI36hg18NCBI36
Build 348105,460,828 - 105,548,453NCBI
Celera8101,578,319 - 101,665,933 (-)NCBI
Cytogenetic Map8q22.3NCBI
HuRef8100,592,683 - 100,680,266 (-)NCBIHuRef
CHM1_18105,432,468 - 105,520,073 (-)NCBICHM1_1
Dpys
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391539,631,881 - 39,720,866 (-)NCBIGRCm39mm39
GRCm39 Ensembl1539,631,883 - 39,720,866 (-)Ensembl
GRCm381539,768,485 - 39,857,470 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1539,768,487 - 39,857,470 (-)EnsemblGRCm38mm10GRCm38
MGSCv371539,600,031 - 39,689,016 (-)NCBIGRCm37mm9NCBIm37
MGSCv361539,598,559 - 39,687,541 (-)NCBImm8
Celera1540,252,611 - 40,341,397 (-)NCBICelera
Cytogenetic Map15B3.1NCBI
Dpys
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2770,822,648 - 70,929,255 (-)NCBI
Rnor_6.0 Ensembl778,769,807 - 78,847,974 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0778,769,918 - 78,847,941 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0778,796,405 - 78,873,615 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4775,368,238 - 75,446,160 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1775,449,118 - 75,466,890 (-)NCBI
Celera767,904,867 - 67,982,691 (-)NCBICelera
Cytogenetic Map7q31NCBI
Dpys
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541728,185,407 - 28,244,307 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541728,183,771 - 28,244,309 (-)NCBIChiLan1.0ChiLan1.0
DPYS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18103,160,922 - 103,248,303 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8103,160,922 - 103,248,303 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08101,008,090 - 101,096,234 (-)NCBIMhudiblu_PPA_v0panPan3
DPYS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl135,583,801 - 5,659,463 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1135,583,795 - 5,659,355 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dpys
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493647039,564,431 - 39,637,394 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DPYS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl432,789,460 - 32,879,489 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1432,791,152 - 32,879,489 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2435,528,834 - 35,616,166 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DPYS
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1899,216,623 - 99,303,969 (-)NCBI
ChlSab1.1 Ensembl899,216,354 - 99,303,282 (-)Ensembl
Dpys
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476320,618,515 - 20,680,790 (-)NCBI

Position Markers
D8S1459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378105,413,445 - 105,413,576UniSTSGRCh37
Build 368105,482,621 - 105,482,752RGDNCBI36
Celera8101,600,107 - 101,600,238RGD
Cytogenetic Map8q22UniSTS
HuRef8100,614,482 - 100,614,613UniSTS
Marshfield Genetic Map8117.62UniSTS
Marshfield Genetic Map8117.62RGD
D8S1738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378105,394,052 - 105,394,262UniSTSGRCh37
Build 368105,463,228 - 105,463,438RGDNCBI36
Celera8101,580,719 - 101,580,927RGD
Cytogenetic Map8q22UniSTS
HuRef8100,595,083 - 100,595,301UniSTS
Marshfield Genetic Map8117.62RGD
Marshfield Genetic Map8117.62UniSTS
Genethon Genetic Map8116.3UniSTS
TNG Radiation Hybrid Map851641.0UniSTS
RH12824  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378105,394,000 - 105,394,157UniSTSGRCh37
Build 368105,463,176 - 105,463,333RGDNCBI36
Celera8101,580,667 - 101,580,822RGD
Cytogenetic Map8q22UniSTS
HuRef8100,595,031 - 100,595,196UniSTS
GeneMap99-GB4 RH Map8442.14UniSTS
RH80769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378105,391,830 - 105,392,063UniSTSGRCh37
Build 368105,461,006 - 105,461,239RGDNCBI36
Celera8101,578,497 - 101,578,730RGD
Cytogenetic Map8q22UniSTS
HuRef8100,592,861 - 100,593,094UniSTS
GeneMap99-GB4 RH Map8445.89UniSTS
RH80723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378105,394,797 - 105,395,024UniSTSGRCh37
Build 368105,463,973 - 105,464,200RGDNCBI36
Celera8101,581,462 - 101,581,689RGD
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map8q22UniSTS
HuRef8100,595,836 - 100,596,063UniSTS
GeneMap99-GB4 RH Map8438.39UniSTS
G59856  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378105,394,809 - 105,395,005UniSTSGRCh37
Build 368105,463,985 - 105,464,181RGDNCBI36
Celera8101,581,474 - 101,581,670RGD
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map8q22UniSTS
HuRef8100,595,848 - 100,596,044UniSTS
TNG Radiation Hybrid Map851641.0UniSTS
SHGC-112121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378105,451,710 - 105,452,054UniSTSGRCh37
Build 368105,520,886 - 105,521,230RGDNCBI36
Celera8101,638,375 - 101,638,719RGD
Cytogenetic Map8q22UniSTS
HuRef8100,652,696 - 100,653,040UniSTS
TNG Radiation Hybrid Map851657.0UniSTS
DPYS_8314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378105,391,473 - 105,391,998UniSTSGRCh37
Build 368105,460,649 - 105,461,174RGDNCBI36
Celera8101,578,140 - 101,578,665RGD
HuRef8100,592,504 - 100,593,029UniSTS
RH45444  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378105,394,798 - 105,395,009UniSTSGRCh37
Build 368105,463,974 - 105,464,185RGDNCBI36
Celera8101,581,463 - 101,581,674RGD
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map8q22UniSTS
HuRef8100,595,837 - 100,596,048UniSTS
GeneMap99-GB4 RH Map8440.12UniSTS
NCBI RH Map81016.3UniSTS

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 1 446 416 1 416 1 228 29 3 210 1
Low 67 102 362 13 114 13 438 24 1266 50 742 410 1 427 89 1
Below cutoff 1813 1989 661 146 1151 16 2883 1497 2119 64 511 805 131 512 1943 2

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 AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8104,379,431 - 104,467,055 (-)Ensembl
RefSeq Acc Id: ENST00000519217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8104,429,147 - 104,444,368 (-)Ensembl
RefSeq Acc Id: ENST00000520483
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8104,380,513 - 104,418,854 (-)Ensembl
RefSeq Acc Id: ENST00000520806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8104,379,435 - 104,381,411 (-)Ensembl
RefSeq Acc Id: ENST00000521372
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8104,381,177 - 104,411,815 (-)Ensembl
RefSeq Acc Id: ENST00000521573   ⟹   ENSP00000430246
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8104,444,430 - 104,467,044 (-)Ensembl
RefSeq Acc Id: ENST00000521601
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8104,330,324 - 104,418,912 (-)Ensembl
RefSeq Acc Id: ENST00000533874   ⟹   ENSP00000436654
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8104,379,491 - 104,392,856 (-)Ensembl
RefSeq Acc Id: NM_001385   ⟹   NP_001376
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388104,379,431 - 104,467,055 (-)NCBI
GRCh378105,391,652 - 105,479,281 (-)NCBI
Build 368105,460,829 - 105,548,453 (-)NCBI Archive
HuRef8100,592,683 - 100,680,266 (-)ENTREZGENE
CHM1_18105,432,468 - 105,520,073 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005250818   ⟹   XP_005250875
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388104,379,429 - 104,467,074 (-)NCBI
GRCh378105,391,652 - 105,479,281 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716518   ⟹   XP_006716581
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388104,379,429 - 104,467,074 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516903   ⟹   XP_011515205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388104,386,861 - 104,467,074 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013167   ⟹   XP_016868656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388104,414,996 - 104,467,074 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447087   ⟹   XP_024302855
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388104,379,429 - 104,467,074 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001745489
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388104,379,429 - 104,467,074 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001745490
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388104,379,429 - 104,467,074 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001376   ⟸   NM_001385
- UniProtKB: Q14117 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005250875   ⟸   XM_005250818
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006716581   ⟸   XM_006716518
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515205   ⟸   XM_011516903
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016868656   ⟸   XM_017013167
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024302855   ⟸   XM_024447087
- Peptide Label: isoform X1
- 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 AssemblyChrPosition (strand)Source
GRCh388104,418,889 - 104,418,949EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh388104,467,055 - 104,467,115EPDNEW

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

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