DPYSL2 (dihydropyrimidinase like 2) - Rat Genome Database

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Gene: DPYSL2 (dihydropyrimidinase like 2) Homo sapiens
Analyze
Symbol: DPYSL2
Name: dihydropyrimidinase like 2
RGD ID: 737388
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Involved in endocytosis. Localizes to cytosol and plasma membrane. Colocalizes with membrane and microtubule.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: collapsin response mediator protein 2; collapsin response mediator protein hCRMP-2; CRMP-2; CRMP2; DHPRP2; dihydropyrimidinase-like 2; dihydropyrimidinase-like 2 long form; dihydropyrimidinase-related protein 2; DRP-2; DRP2; N2A3; ULIP-2; ULIP2; unc-33-like phosphoprotein 2
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
NCBI Annotation Information: Note: DRP2 (Gene ID: 1821) and DPYSL2 (Gene ID: 1808) share the DRP2 symbol/alias in common. DRP2 is a widely used alternative name for dihydropyrimidinase like 2 (DPYSL2), which can be confused with the official symbol for dystrophin related protein 2 (DRP2). [06 Jul 2018]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl826,514,031 - 26,658,178 (+)EnsemblGRCh38hg38GRCh38
GRCh38826,514,031 - 26,658,175 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37826,371,547 - 26,515,691 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36826,491,338 - 26,571,610 (+)NCBINCBI36hg18NCBI36
Build 34826,491,337 - 26,571,610NCBI
Celera825,397,861 - 25,478,105 (+)NCBI
Cytogenetic Map8p21.2NCBI
HuRef824,916,540 - 25,060,679 (+)NCBIHuRef
CHM1_1826,573,316 - 26,717,422 (+)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
(+)-pilocarpine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-benzylpiperazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,5-hexanedione  (ISO)
2-butoxyethanol  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4-hydroxynon-2-enal  (EXP)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
albendazole  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
arsenous acid  (EXP)
atrazine  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A5  (EXP)
buspirone  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper(II) chloride  (ISO)
cyclosporin A  (EXP)
dexmedetomidine  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
diethyl maleate  (ISO)
diethyldithiocarbamic acid  (ISO)
dihydroartemisinin  (EXP)
dioxygen  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (EXP)
etoposide  (ISO)
finasteride  (ISO)
folic acid  (ISO)
furan  (ISO)
gentamycin  (ISO)
hydroquinone O-beta-D-glucopyranoside  (EXP)
isoflavones  (EXP)
isotretinoin  (EXP)
ivermectin  (EXP)
lead diacetate  (ISO)
leflunomide  (EXP)
lovastatin  (ISO)
methamphetamine  (ISO)
methapyrilene  (EXP)
methylseleninic acid  (EXP)
miconazole  (ISO)
morphine  (ISO)
N-nitrosodiethylamine  (ISO)
naphthalene  (ISO)
paracetamol  (EXP)
piroxicam  (EXP)
potassium dichromate  (EXP)
pravastatin  (ISO)
propofol  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
sodium dodecyl sulfate  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
Tributyltin oxide  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
valproic acid  (EXP)
warfarin  (ISO)
zaragozic acid A  (ISO)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

Additional References at PubMed
PMID:7637782   PMID:8125298   PMID:8973361   PMID:10574455   PMID:10757975   PMID:10770920   PMID:10818093   PMID:10956643   PMID:11121447   PMID:11741937   PMID:11771764   PMID:12134159  
PMID:12477932   PMID:12482610   PMID:12679234   PMID:12942088   PMID:12951196   PMID:14702039   PMID:15027329   PMID:15207709   PMID:15342556   PMID:15489334   PMID:15652488   PMID:15672539  
PMID:15858820   PMID:16260607   PMID:16321170   PMID:16344560   PMID:16380905   PMID:16611631   PMID:16964243   PMID:17043677   PMID:17105906   PMID:17229153   PMID:17500595   PMID:17683050  
PMID:17683481   PMID:18029348   PMID:18203259   PMID:18218617   PMID:18460467   PMID:18583979   PMID:19110265   PMID:19151921   PMID:19235893   PMID:19322201   PMID:19328558   PMID:19405953  
PMID:19519308   PMID:19659462   PMID:19666111   PMID:20379614   PMID:20381070   PMID:20414250   PMID:20458337   PMID:20801876   PMID:21271304   PMID:21302347   PMID:21319273   PMID:21516116  
PMID:21521879   PMID:21565611   PMID:21642979   PMID:21694731   PMID:21832084   PMID:21860090   PMID:21873635   PMID:21900206   PMID:21988832   PMID:22227566   PMID:22279220   PMID:22431514  
PMID:22443207   PMID:22586326   PMID:22863883   PMID:22954668   PMID:23023514   PMID:23166591   PMID:23185275   PMID:23381229   PMID:23836888   PMID:23846846   PMID:24036111   PMID:24133216  
PMID:24518087   PMID:24634145   PMID:24722188   PMID:25224486   PMID:25416705   PMID:25416956   PMID:25737280   PMID:25760044   PMID:25847191   PMID:25921289   PMID:25963833   PMID:26186194  
PMID:26344197   PMID:26555036   PMID:26777405   PMID:26792863   PMID:27609071   PMID:27940916   PMID:28044206   PMID:28514442   PMID:28533407   PMID:28611215   PMID:28660485   PMID:28675297  
PMID:28718761   PMID:29053956   PMID:29467282   PMID:29507755   PMID:29568061   PMID:29676528   PMID:29859926   PMID:29892012   PMID:30081699   PMID:30097533   PMID:30258100   PMID:30315937  
PMID:30737378   PMID:30816227   PMID:30979931   PMID:31024071   PMID:31048545   PMID:31067453   PMID:31091453   PMID:31267313   PMID:31405213   PMID:31478661   PMID:31515488   PMID:31561361  
PMID:31591136   PMID:31594818   PMID:32296183   PMID:32416067   PMID:32814053   PMID:33219287  


Genomics

Comparative Map Data
DPYSL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl826,514,031 - 26,658,178 (+)EnsemblGRCh38hg38GRCh38
GRCh38826,514,031 - 26,658,175 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37826,371,547 - 26,515,691 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36826,491,338 - 26,571,610 (+)NCBINCBI36hg18NCBI36
Build 34826,491,337 - 26,571,610NCBI
Celera825,397,861 - 25,478,105 (+)NCBI
Cytogenetic Map8p21.2NCBI
HuRef824,916,540 - 25,060,679 (+)NCBIHuRef
CHM1_1826,573,316 - 26,717,422 (+)NCBICHM1_1
Dpysl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391467,040,313 - 67,148,490 (-)NCBIGRCm39mm39
GRCm39 Ensembl1467,040,313 - 67,106,137 (-)Ensembl
GRCm381466,802,864 - 66,911,041 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1466,802,864 - 66,868,688 (-)EnsemblGRCm38mm10GRCm38
MGSCv371467,421,701 - 67,487,437 (-)NCBIGRCm37mm9NCBIm37
MGSCv361465,756,974 - 65,822,710 (-)NCBImm8
Celera1464,556,867 - 64,622,100 (-)NCBICelera
Cytogenetic Map14D1NCBI
cM Map1434.6NCBI
Dpysl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21541,005,551 - 41,111,724 (-)NCBI
Rnor_6.0 Ensembl1543,477,629 - 43,542,939 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01543,475,640 - 43,581,725 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01548,014,263 - 48,120,298 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41546,346,413 - 46,413,786 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11546,363,561 - 46,429,519 (-)NCBI
Celera1540,673,435 - 40,740,421 (-)NCBICelera
Cytogenetic Map15p12NCBI
Dpysl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540349,188,205 - 49,307,810 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540349,188,259 - 49,306,916 (+)NCBIChiLan1.0ChiLan1.0
DPYSL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1822,693,863 - 22,834,080 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl822,693,863 - 22,834,080 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0825,786,950 - 25,927,782 (+)NCBIMhudiblu_PPA_v0panPan3
DPYSL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12530,900,347 - 31,038,256 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2530,903,253 - 31,038,144 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2531,488,825 - 31,626,366 (-)NCBI
ROS_Cfam_1.02531,099,660 - 31,237,832 (-)NCBI
UMICH_Zoey_3.12531,034,380 - 31,172,517 (-)NCBI
UNSW_CanFamBas_1.02530,904,994 - 31,043,606 (-)NCBI
UU_Cfam_GSD_1.02531,072,136 - 31,210,060 (-)NCBI
Dpysl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049439,058,904 - 9,170,248 (-)NCBI
SpeTri2.0NW_004936757311,317 - 422,870 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DPYSL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1410,427,500 - 10,545,703 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11410,428,598 - 10,545,705 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21411,593,761 - 11,711,007 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DPYSL2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1824,625,961 - 24,772,047 (+)NCBI
ChlSab1.1 Ensembl824,690,856 - 24,772,087 (+)Ensembl
Dpysl2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475821,355,816 - 21,475,662 (+)NCBI

Position Markers
D8S1383E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37826,515,231 - 26,515,366UniSTSGRCh37
Build 36826,571,148 - 26,571,283RGDNCBI36
Celera825,477,643 - 25,477,778RGD
Cytogenetic Map8p22-p21UniSTS
HuRef825,060,217 - 25,060,352UniSTS
GeneMap99-GB4 RH Map8106.04UniSTS
NCBI RH Map8328.0UniSTS
RH45542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37826,514,940 - 26,515,148UniSTSGRCh37
Build 36826,570,857 - 26,571,065RGDNCBI36
Celera825,477,352 - 25,477,560RGD
Cytogenetic Map8p22-p21UniSTS
HuRef825,059,926 - 25,060,134UniSTS
GeneMap99-GB4 RH Map8106.15UniSTS
SHGC-68590  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37826,499,349 - 26,499,581UniSTSGRCh37
Build 36826,555,266 - 26,555,498RGDNCBI36
Celera825,461,762 - 25,461,994RGD
Cytogenetic Map8p22-p21UniSTS
HuRef825,044,335 - 25,044,567UniSTS
TNG Radiation Hybrid Map814932.0UniSTS
SHGC-83221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37826,509,425 - 26,509,696UniSTSGRCh37
Build 36826,565,342 - 26,565,613RGDNCBI36
Celera825,471,837 - 25,472,108RGD
Cytogenetic Map8p22-p21UniSTS
HuRef825,054,410 - 25,054,681UniSTS
TNG Radiation Hybrid Map814928.0UniSTS
G62088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37826,515,422 - 26,515,527UniSTSGRCh37
Build 36826,571,339 - 26,571,444RGDNCBI36
Celera825,477,834 - 25,477,939RGD
Cytogenetic Map8p22-p21UniSTS
HuRef825,060,408 - 25,060,513UniSTS
A002O30  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37826,515,448 - 26,515,651UniSTSGRCh37
Build 36826,571,365 - 26,571,568RGDNCBI36
Celera825,477,860 - 25,478,063RGD
Cytogenetic Map8p22-p21UniSTS
HuRef825,060,434 - 25,060,637UniSTS
GeneMap99-GB4 RH Map8104.14UniSTS
2092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37826,514,827 - 26,514,927UniSTSGRCh37
Build 36826,570,744 - 26,570,844RGDNCBI36
Celera825,477,239 - 25,477,339RGD
Cytogenetic Map8p22-p21UniSTS
HuRef825,059,813 - 25,059,913UniSTS
GeneMap99-GB4 RH Map8106.15UniSTS
STS-N39248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37826,513,754 - 26,513,883UniSTSGRCh37
Build 36826,569,671 - 26,569,800RGDNCBI36
Celera825,476,166 - 25,476,295RGD
Cytogenetic Map8p22-p21UniSTS
HuRef825,058,740 - 25,058,869UniSTS
GeneMap99-GB4 RH Map8105.28UniSTS
NCBI RH Map8326.9UniSTS
D8S1589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37826,515,233 - 26,515,412UniSTSGRCh37
Build 36826,571,150 - 26,571,329RGDNCBI36
Celera825,477,645 - 25,477,824RGD
Cytogenetic Map8p22-p21UniSTS
HuRef825,060,219 - 25,060,398UniSTS
GeneMap99-GB4 RH Map8105.6UniSTS
Whitehead-RH Map8107.0UniSTS
Whitehead-YAC Contig Map8 UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR19Ahsa-miR-19a-3pMirtarbaseexternal_infoReporter assayFunctional MTI21654684

Predicted Target Of
Summary Value
Count of predictions:3432
Count of miRNA genes:1107
Interacting mature miRNAs:1381
Transcripts:ENST00000311151, ENST00000474808, ENST00000493789, ENST00000521913, ENST00000521983, ENST00000523027, ENST00000523093, ENST00000523690
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 visual system adipose tissue appendage entire extraembryonic component
High 1
Medium 2246 2237 1368 275 1166 135 3674 1504 3706 328 1243 1563 149 1204 2146 2
Low 186 745 355 347 776 329 681 688 22 90 205 43 22 642 2
Below cutoff 1 3 6 1 1 3 1 6 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001197293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001244604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB020777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB370194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB370195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC015564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC015743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP222303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX461557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX463316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D78013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA649686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC333865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC344356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB582075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB723034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U17279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000311151   ⟹   ENSP00000309539
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,577,843 - 26,658,178 (+)Ensembl
RefSeq Acc Id: ENST00000474808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,637,530 - 26,643,522 (+)Ensembl
RefSeq Acc Id: ENST00000493789   ⟹   ENSP00000427954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,577,062 - 26,583,965 (+)Ensembl
RefSeq Acc Id: ENST00000521913   ⟹   ENSP00000427985
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,514,031 - 26,658,175 (+)Ensembl
RefSeq Acc Id: ENST00000521983
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,627,215 - 26,643,145 (+)Ensembl
RefSeq Acc Id: ENST00000523027   ⟹   ENSP00000431117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,578,405 - 26,656,027 (+)Ensembl
RefSeq Acc Id: ENST00000523093
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,623,849 - 26,634,836 (+)Ensembl
RefSeq Acc Id: ENST00000523690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl826,619,508 - 26,624,173 (+)Ensembl
RefSeq Acc Id: NM_001197293   ⟹   NP_001184222
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38826,514,031 - 26,658,175 (+)NCBI
GRCh37826,371,709 - 26,515,693 (+)ENTREZGENE
HuRef824,916,540 - 25,060,679 (+)ENTREZGENE
CHM1_1826,573,316 - 26,717,422 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001244604   ⟹   NP_001231533
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38826,578,405 - 26,658,175 (+)NCBI
GRCh37826,371,709 - 26,515,693 (+)NCBI
HuRef824,916,540 - 25,060,679 (+)NCBI
CHM1_1826,637,650 - 26,717,422 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386   ⟹   NP_001377
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38826,577,945 - 26,658,175 (+)NCBI
GRCh37826,371,709 - 26,515,693 (+)ENTREZGENE
Build 36826,491,338 - 26,571,610 (+)NCBI Archive
HuRef824,916,540 - 25,060,679 (+)ENTREZGENE
CHM1_1826,637,066 - 26,717,422 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001184222   ⟸   NM_001197293
- Peptide Label: isoform 1
- UniProtKB: Q16555 (UniProtKB/Swiss-Prot),   Q59GB4 (UniProtKB/TrEMBL),   A0A1C7CYX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001377   ⟸   NM_001386
- Peptide Label: isoform 2
- UniProtKB: Q16555 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001231533   ⟸   NM_001244604
- Peptide Label: isoform 3
- UniProtKB: Q16555 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000427954   ⟸   ENST00000493789
RefSeq Acc Id: ENSP00000309539   ⟸   ENST00000311151
RefSeq Acc Id: ENSP00000427985   ⟸   ENST00000521913
RefSeq Acc Id: ENSP00000431117   ⟸   ENST00000523027
Protein Domains
Amidohydro-rel

Promoters
RGD ID:6806613
Promoter ID:HG_KWN:60978
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000216904,   OTTHUMT00000259275,   UC010LUK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36826,490,361 - 26,491,952 (+)MPROMDB
RGD ID:7212927
Promoter ID:EPDNEW_H12209
Type:initiation region
Name:DPYSL2_2
Description:dihydropyrimidinase like 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12211  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38826,514,031 - 26,514,091EPDNEW
RGD ID:7212933
Promoter ID:EPDNEW_H12211
Type:initiation region
Name:DPYSL2_1
Description:dihydropyrimidinase like 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12209  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38826,577,958 - 26,578,018EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
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 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
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
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1 copy number loss See cases [RCV000054237] Chr8:24910364..31210737 [GRCh38]
Chr8:24767877..31068253 [GRCh37]
Chr8:24823781..31187795 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1 copy number loss See cases [RCV000136120] Chr8:24910364..31196357 [GRCh38]
Chr8:24767877..31053873 [GRCh37]
Chr8:24823781..31173415 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1 copy number loss See cases [RCV000138081] Chr8:25171103..31750600 [GRCh38]
Chr8:25028618..31608116 [GRCh37]
Chr8:25084535..31727658 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
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 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
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 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
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 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 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12
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 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12
pathogenic
NM_001197293.3(DPYSL2):c.357C>A (p.Ser119Arg) single nucleotide variant Inborn genetic diseases [RCV000210724] Chr8:26581971 [GRCh38]
Chr8:26439487 [GRCh37]
Chr8:8p21.2
pathogenic|likely pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1
uncertain significance
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
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p21.2-12(chr8:24514488-34808438) copy number gain See cases [RCV000448582] Chr8:24514488..34808438 [GRCh37]
Chr8:8p21.2-12
pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
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 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
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 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 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p21.2(chr8:24948124-26895609)x1 copy number loss not provided [RCV000683016] Chr8:24948124..26895609 [GRCh37]
Chr8:8p21.2
uncertain significance
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
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_001197293.3(DPYSL2):c.1041C>T (p.Ile347=) single nucleotide variant not provided [RCV000883856] Chr8:26634815 [GRCh38]
Chr8:26492331 [GRCh37]
Chr8:8p21.2
benign
NM_001197293.3(DPYSL2):c.1587A>C (p.Thr529=) single nucleotide variant not provided [RCV000893021] Chr8:26647791 [GRCh38]
Chr8:26505307 [GRCh37]
Chr8:8p21.2
likely benign
NM_001197293.3(DPYSL2):c.667G>A (p.Ala223Thr) single nucleotide variant not provided [RCV000879604] Chr8:26624181 [GRCh38]
Chr8:26481697 [GRCh37]
Chr8:8p21.2
benign
GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1 copy number loss not provided [RCV001006090] Chr8:24305969..28673405 [GRCh37]
Chr8:8p21.2-21.1
pathogenic
NM_001197293.3(DPYSL2):c.1777-9G>A single nucleotide variant not provided [RCV000883265] Chr8:26653223 [GRCh38]
Chr8:26510739 [GRCh37]
Chr8:8p21.2
benign
NM_001197293.3(DPYSL2):c.357C>T (p.Ser119=) single nucleotide variant not provided [RCV000958360] Chr8:26581971 [GRCh38]
Chr8:26439487 [GRCh37]
Chr8:8p21.2
benign
GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1 copy number loss not provided [RCV000847074] Chr8:22442548..27369334 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
NM_001197293.3(DPYSL2):c.792C>T (p.His264=) single nucleotide variant not provided [RCV000891953] Chr8:26624306 [GRCh38]
Chr8:26481822 [GRCh37]
Chr8:8p21.2
likely benign
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
NM_001197293.3(DPYSL2):c.1170G>C (p.Thr390=) single nucleotide variant not provided [RCV000975396] Chr8:26643482 [GRCh38]
Chr8:26500998 [GRCh37]
Chr8:8p21.2
likely benign
NM_001197293.3(DPYSL2):c.1980C>G (p.Thr660=) single nucleotide variant not provided [RCV000888910] Chr8:26655652 [GRCh38]
Chr8:26513168 [GRCh37]
Chr8:8p21.2
benign
NM_001197293.3(DPYSL2):c.504G>A (p.Arg168=) single nucleotide variant not provided [RCV000902417] Chr8:26583859 [GRCh38]
Chr8:26441375 [GRCh37]
Chr8:8p21.2
likely benign
NM_001197293.3(DPYSL2):c.1563C>T (p.Ser521=) single nucleotide variant not provided [RCV000956578] Chr8:26647767 [GRCh38]
Chr8:26505283 [GRCh37]
Chr8:8p21.2
benign
NM_001197293.3(DPYSL2):c.1311C>G (p.Ala437=) single nucleotide variant not provided [RCV000957885] Chr8:26643977 [GRCh38]
Chr8:26501493 [GRCh37]
Chr8:8p21.2
benign
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormality of the fetal cardiovascular system [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3014 AgrOrtholog
COSMIC DPYSL2 COSMIC
Ensembl Genes ENSG00000092964 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000309539 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427954 UniProtKB/TrEMBL
  ENSP00000427985 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000431117 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000311151 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000493789 UniProtKB/TrEMBL
  ENST00000521913 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000523027 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000092964 GTEx
HGNC ID HGNC:3014 ENTREZGENE
Human Proteome Map DPYSL2 Human Proteome Map
InterPro Amidohydro-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DRP2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hydantoinase/dihydroPyrase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Metal-dep_hydrolase_composite UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Metal_Hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1808 UniProtKB/Swiss-Prot
NCBI Gene 1808 ENTREZGENE
OMIM 602463 OMIM
PANTHER PTHR11647:SF56 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Amidohydro_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB DPYSL2 RGD, PharmGKB
Superfamily-SCOP SSF51338 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51556 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs D-hydantoinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1C7CYX9 ENTREZGENE, UniProtKB/TrEMBL
  A9CQZ2_HUMAN UniProtKB/TrEMBL
  A9CQZ4_HUMAN UniProtKB/TrEMBL
  DPYL2_HUMAN UniProtKB/Swiss-Prot
  E5RFU4_HUMAN UniProtKB/TrEMBL
  Q16555 ENTREZGENE
  Q59GB4 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K5H2 UniProtKB/Swiss-Prot
  B4DR31 UniProtKB/Swiss-Prot
  D3DSS7 UniProtKB/Swiss-Prot
  O00424 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 DPYSL2  dihydropyrimidinase like 2    dihydropyrimidinase-like 2  Symbol and/or name change 5135510 APPROVED
2011-09-27 DPYSL2  dihydropyrimidinase-like 2  DPYSL2  dihydropyrimidinase-like 2  Symbol and/or name change 5135510 APPROVED