UMPS (uridine monophosphate synthetase) - Rat Genome Database
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Gene: UMPS (uridine monophosphate synthetase) Homo sapiens
Analyze
Symbol: UMPS
Name: uridine monophosphate synthetase
RGD ID: 1323612
HGNC Page HGNC
Description: Exhibits identical protein binding activity; orotate phosphoribosyltransferase activity; and orotidine-5'-phosphate decarboxylase activity. Involved in UMP biosynthetic process. Localizes to cytoplasm and nucleus. Implicated in orotic aciduria and purine-pyrimidine metabolic disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: OMPdecase; OPRT; OPRTase; orotate phosphoribosyltransferase; orotidine 5'-phosphate decarboxylase; RP11-71H17.9; UMP synthase; uridine 5'-monophosphate synthase; uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase)
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 Ensembl3124,730,433 - 124,749,273 (+)EnsemblGRCh38hg38GRCh38
GRCh383124,730,442 - 124,749,273 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373124,449,299 - 124,468,120 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363125,931,903 - 125,946,318 (+)NCBINCBI36hg18NCBI36
Build 343125,931,902 - 125,946,318NCBI
Celera3122,856,384 - 122,875,279 (+)NCBI
Cytogenetic Map3q21.2NCBI
HuRef3121,823,485 - 121,842,386 (+)NCBIHuRef
CHM1_13124,412,201 - 124,431,088 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component
cytoplasm  (IDA)
cytosol  (TAS)
nucleus  (IDA)

Molecular Function

References

Additional References at PubMed
PMID:2624233   PMID:2767686   PMID:3279416   PMID:6574608   PMID:6893554   PMID:8069469   PMID:11730338   PMID:12477932   PMID:14562021   PMID:15489334   PMID:15890648   PMID:15999119  
PMID:16142362   PMID:16169070   PMID:16328050   PMID:16818689   PMID:17237621   PMID:17505114   PMID:17549346   PMID:17607371   PMID:17854773   PMID:18184586   PMID:18597678   PMID:18633253  
PMID:18854154   PMID:18949394   PMID:19020740   PMID:19020767   PMID:19074750   PMID:19082440   PMID:19307741   PMID:19332728   PMID:19562503   PMID:19615732   PMID:19724871   PMID:20112501  
PMID:20453000   PMID:20467437   PMID:20527751   PMID:20647221   PMID:20647710   PMID:20665215   PMID:21145461   PMID:21163940   PMID:21631301   PMID:21873635   PMID:21988832   PMID:22249354  
PMID:22641663   PMID:22658674   PMID:22931617   PMID:22939629   PMID:23284306   PMID:24158442   PMID:24797263   PMID:25640309   PMID:26344197   PMID:26496610   PMID:26871637   PMID:26972000  
PMID:27025967   PMID:27320910   PMID:28205048   PMID:28319085   PMID:28347333   PMID:28380382   PMID:28514442   PMID:28675297   PMID:30033366   PMID:30619736   PMID:30833792   PMID:31073040  
PMID:31091453   PMID:32786267   PMID:33144569  


Genomics

Comparative Map Data
UMPS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3124,730,433 - 124,749,273 (+)EnsemblGRCh38hg38GRCh38
GRCh383124,730,442 - 124,749,273 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373124,449,299 - 124,468,120 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363125,931,903 - 125,946,318 (+)NCBINCBI36hg18NCBI36
Build 343125,931,902 - 125,946,318NCBI
Celera3122,856,384 - 122,875,279 (+)NCBI
Cytogenetic Map3q21.2NCBI
HuRef3121,823,485 - 121,842,386 (+)NCBIHuRef
CHM1_13124,412,201 - 124,431,088 (+)NCBICHM1_1
Umps
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391633,775,152 - 33,787,408 (-)NCBIGRCm39mm39
GRCm39 Ensembl1633,775,152 - 33,787,408 (-)Ensembl
GRCm381633,954,782 - 33,967,038 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1633,954,782 - 33,967,038 (-)EnsemblGRCm38mm10GRCm38
MGSCv371633,955,098 - 33,967,089 (-)NCBIGRCm37mm9NCBIm37
MGSCv361633,874,759 - 33,886,750 (-)NCBImm8
Celera1634,439,142 - 34,451,132 (-)NCBICelera
Cytogenetic Map16B3NCBI
Umps
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21166,806,107 - 66,816,520 (+)NCBI
Rnor_6.0 Ensembl1170,034,139 - 70,044,628 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01170,034,181 - 70,044,590 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01173,123,827 - 73,134,236 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41168,619,835 - 68,630,244 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11168,677,423 - 68,687,833 (+)NCBI
Celera1166,256,748 - 66,267,157 (+)NCBICelera
Cytogenetic Map11q22NCBI
Umps
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542723,825,523 - 23,841,152 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542723,825,529 - 23,841,427 (+)NCBIChiLan1.0ChiLan1.0
UMPS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13128,731,309 - 128,745,241 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3128,731,355 - 128,745,029 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03121,832,758 - 121,851,707 (+)NCBIMhudiblu_PPA_v0panPan3
UMPS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3327,754,643 - 27,782,514 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13327,754,592 - 27,782,517 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Umps
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936725553,278 - 564,846 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UMPS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13135,610,058 - 135,650,604 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113135,611,857 - 135,650,656 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213145,113,405 - 145,154,901 (-)NCBISscrofa10.2Sscrofa10.2susScr3
UMPS
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12256,081,897 - 56,097,164 (-)NCBI
ChlSab1.1 Ensembl2256,082,103 - 56,097,105 (-)Ensembl
Umps
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624731761,235 - 780,355 (+)NCBI

Position Markers
RH47989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373124,458,928 - 124,459,049UniSTSGRCh37
Build 363125,941,618 - 125,941,739RGDNCBI36
Celera3122,866,101 - 122,866,222RGD
Cytogenetic Map3q13UniSTS
HuRef3121,833,205 - 121,833,326UniSTS
GeneMap99-GB4 RH Map3440.93UniSTS
NCBI RH Map31071.5UniSTS
RH69886  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373124,467,905 - 124,468,033UniSTSGRCh37
Build 363125,950,595 - 125,950,723RGDNCBI36
Celera3122,875,064 - 122,875,192RGD
Cytogenetic Map3q13UniSTS
HuRef3121,842,171 - 121,842,299UniSTS
GeneMap99-GB4 RH Map3442.95UniSTS
NCBI RH Map31071.5UniSTS
RH65688  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373124,456,725 - 124,456,892UniSTSGRCh37
Build 363125,939,415 - 125,939,582RGDNCBI36
Celera3122,863,898 - 122,864,065RGD
Cytogenetic Map3q13UniSTS
HuRef3121,831,002 - 121,831,169UniSTS
SHGC-81841  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373124,458,615 - 124,458,913UniSTSGRCh37
Build 363125,941,305 - 125,941,603RGDNCBI36
Celera3122,865,788 - 122,866,086RGD
Cytogenetic Map3q13UniSTS
HuRef3121,832,892 - 121,833,190UniSTS
TNG Radiation Hybrid Map371395.0UniSTS
SHGC-30469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373124,465,684 - 124,465,833UniSTSGRCh37
Build 363125,948,374 - 125,948,523RGDNCBI36
Celera3122,872,843 - 122,872,992RGD
Cytogenetic Map3q13UniSTS
HuRef3121,839,949 - 121,840,098UniSTS
Stanford-G3 RH Map35665.0UniSTS
GeneMap99-GB4 RH Map3442.85UniSTS
Whitehead-RH Map3541.4UniSTS
NCBI RH Map31071.5UniSTS
GeneMap99-G3 RH Map36135.0UniSTS
UMPS_1123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373124,462,948 - 124,463,666UniSTSGRCh37
Build 363125,945,638 - 125,946,356RGDNCBI36
Celera3122,870,120 - 122,870,838RGD
HuRef3121,837,229 - 121,837,947UniSTS
STS-W56547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373124,462,884 - 124,463,119UniSTSGRCh37
Build 363125,945,574 - 125,945,809RGDNCBI36
Celera3122,870,056 - 122,870,291RGD
Cytogenetic Map3q13UniSTS
HuRef3121,837,165 - 121,837,400UniSTS
GeneMap99-GB4 RH Map3439.67UniSTS
NCBI RH Map31060.8UniSTS
STS-J03626  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373124,462,985 - 124,463,215UniSTSGRCh37
Build 363125,945,675 - 125,945,905RGDNCBI36
Celera3122,870,157 - 122,870,387RGD
Cytogenetic Map3q13UniSTS
HuRef3121,837,266 - 121,837,496UniSTS
TNG Radiation Hybrid Map371395.0UniSTS
GeneMap99-GB4 RH Map3442.95UniSTS
NCBI RH Map31071.5UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6353
Count of miRNA genes:865
Interacting mature miRNAs:1012
Transcripts:ENST00000232607, ENST00000413078, ENST00000460034, ENST00000462091, ENST00000467167, ENST00000474588, ENST00000479719, ENST00000487622, ENST00000495751, ENST00000497791, ENST00000498715, ENST00000536109, ENST00000538242
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 pharyngeal arch
High
Medium 233 8 307 229 703 229 528 61 159 261 363 386 15 1 17 155 4 1
Low 2206 2772 1419 395 1085 236 3829 2094 3572 158 1097 1227 160 1187 2633 2 1
Below cutoff 211 163 42 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_017037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB041359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB062285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY691629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D86227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D86228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D86229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D86230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU921886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU921887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU921888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU921889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU921890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU921891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU921892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU921893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU921894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU921895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M36661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000232607   ⟹   ENSP00000232607
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3124,730,452 - 124,749,273 (+)Ensembl
RefSeq Acc Id: ENST00000460034   ⟹   ENSP00000420409
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3124,730,452 - 124,744,757 (+)Ensembl
RefSeq Acc Id: ENST00000462091   ⟹   ENSP00000417893
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3124,730,433 - 124,744,757 (+)Ensembl
RefSeq Acc Id: ENST00000467167   ⟹   ENSP00000419618
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3124,730,445 - 124,744,757 (+)Ensembl
RefSeq Acc Id: ENST00000474588   ⟹   ENSP00000420348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3124,730,452 - 124,744,757 (+)Ensembl
RefSeq Acc Id: ENST00000479719   ⟹   ENSP00000420754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3124,730,452 - 124,744,757 (+)Ensembl
RefSeq Acc Id: ENST00000487622
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3124,738,131 - 124,742,665 (+)Ensembl
RefSeq Acc Id: ENST00000495751
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3124,738,625 - 124,744,070 (+)Ensembl
RefSeq Acc Id: ENST00000497791   ⟹   ENSP00000419121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3124,730,452 - 124,744,757 (+)Ensembl
RefSeq Acc Id: ENST00000498715
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3124,737,195 - 124,738,371 (+)Ensembl
RefSeq Acc Id: ENST00000628619   ⟹   ENSP00000486143
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3124,730,445 - 124,731,550 (+)Ensembl
RefSeq Acc Id: NM_000373   ⟹   NP_000364
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383124,730,452 - 124,749,273 (+)NCBI
GRCh373124,449,213 - 124,468,120 (+)ENTREZGENE
Build 363125,931,903 - 125,946,318 (+)NCBI Archive
HuRef3121,823,485 - 121,842,386 (+)ENTREZGENE
CHM1_13124,412,201 - 124,431,088 (+)NCBI
Sequence:
RefSeq Acc Id: NR_033434
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383124,730,452 - 124,749,273 (+)NCBI
GRCh373124,449,213 - 124,468,120 (+)ENTREZGENE
HuRef3121,823,485 - 121,842,386 (+)ENTREZGENE
CHM1_13124,412,201 - 124,431,088 (+)NCBI
Sequence:
RefSeq Acc Id: NR_033437
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383124,730,452 - 124,749,273 (+)NCBI
GRCh373124,449,213 - 124,468,120 (+)ENTREZGENE
HuRef3121,823,485 - 121,842,386 (+)ENTREZGENE
CHM1_13124,412,201 - 124,431,088 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001740253
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383124,730,442 - 124,749,230 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000364 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA61255 (Get FASTA)   NCBI Sequence Viewer  
  AAA61256 (Get FASTA)   NCBI Sequence Viewer  
  AAH00364 (Get FASTA)   NCBI Sequence Viewer  
  AAH07511 (Get FASTA)   NCBI Sequence Viewer  
  AAT85801 (Get FASTA)   NCBI Sequence Viewer  
  ACH48224 (Get FASTA)   NCBI Sequence Viewer  
  ACH48225 (Get FASTA)   NCBI Sequence Viewer  
  ACH48226 (Get FASTA)   NCBI Sequence Viewer  
  ACH48227 (Get FASTA)   NCBI Sequence Viewer  
  ACH48228 (Get FASTA)   NCBI Sequence Viewer  
  ACH48229 (Get FASTA)   NCBI Sequence Viewer  
  ACH48230 (Get FASTA)   NCBI Sequence Viewer  
  ACH48231 (Get FASTA)   NCBI Sequence Viewer  
  ACH48232 (Get FASTA)   NCBI Sequence Viewer  
  ACH48233 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33833 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33834 (Get FASTA)   NCBI Sequence Viewer  
  BAA19920 (Get FASTA)   NCBI Sequence Viewer  
  BAA19921 (Get FASTA)   NCBI Sequence Viewer  
  BAA19922 (Get FASTA)   NCBI Sequence Viewer  
  BAA19923 (Get FASTA)   NCBI Sequence Viewer  
  BAB20663 (Get FASTA)   NCBI Sequence Viewer  
  BAB93468 (Get FASTA)   NCBI Sequence Viewer  
  BAF83995 (Get FASTA)   NCBI Sequence Viewer  
  CAB45710 (Get FASTA)   NCBI Sequence Viewer  
  CAG33068 (Get FASTA)   NCBI Sequence Viewer  
  EAW79407 (Get FASTA)   NCBI Sequence Viewer  
  EAW79408 (Get FASTA)   NCBI Sequence Viewer  
  P11172 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000364   ⟸   NM_000373
- UniProtKB: P11172 (UniProtKB/Swiss-Prot),   A8K5J1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000420754   ⟸   ENST00000479719
RefSeq Acc Id: ENSP00000419618   ⟸   ENST00000467167
RefSeq Acc Id: ENSP00000486143   ⟸   ENST00000628619
RefSeq Acc Id: ENSP00000232607   ⟸   ENST00000232607
RefSeq Acc Id: ENSP00000419121   ⟸   ENST00000497791
RefSeq Acc Id: ENSP00000420348   ⟸   ENST00000474588
RefSeq Acc Id: ENSP00000420409   ⟸   ENST00000460034
RefSeq Acc Id: ENSP00000417893   ⟸   ENST00000462091
Protein Domains
OMPdecase   Pribosyltran

Promoters
RGD ID:6865500
Promoter ID:EPDNEW_H5915
Type:initiation region
Name:UMPS_1
Description:uridine monophosphate synthetase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383124,730,453 - 124,730,513EPDNEW
RGD ID:6801908
Promoter ID:HG_KWN:46036
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:NM_000373,   NR_033434,   NR_033437,   UC003EHM.2
Position:
Human AssemblyChrPosition (strand)Source
Build 363125,931,729 - 125,932,229 (+)MPROMDB
RGD ID:6852644
Promoter ID:EP74134
Type:initiation region
Name:HS_UMPS
Description:Uridine monophosphate synthetase (orotate phosphoribosyl andsferase and orotidine-5'-decarboxylase).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 363125,931,990 - 125,932,050EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000373.4(UMPS):c.983-2A>G single nucleotide variant not provided [RCV000722975] Chr3:124740022 [GRCh38]
Chr3:124458869 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.326T>G (p.Val109Gly) single nucleotide variant Orotic aciduria [RCV000012682] Chr3:124737583 [GRCh38]
Chr3:124456430 [GRCh37]
Chr3:3q21.2
pathogenic
GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1 copy number loss See cases [RCV000051569] Chr3:121644209..125676353 [GRCh38]
Chr3:121363056..125395197 [GRCh37]
Chr3:122845746..126877887 [NCBI36]
Chr3:3q13.33-21.2
pathogenic
GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1 copy number loss See cases [RCV000051546] Chr3:119117166..125920734 [GRCh38]
Chr3:118836013..125639577 [GRCh37]
Chr3:120318703..127122267 [NCBI36]
Chr3:3q13.32-21.2
pathogenic
NM_000373.3(UMPS):c.-67T>C single nucleotide variant Orotic aciduria [RCV000391855]|not provided [RCV000086508] Chr3:124730405 [GRCh38]
Chr3:124449252 [GRCh37]
Chr3:125931942 [NCBI36]
Chr3:3q21.2
benign|not provided
NM_000373.3(UMPS):c.-28A>G single nucleotide variant Orotic aciduria [RCV000281476]|not provided [RCV000086509] Chr3:124730444 [GRCh38]
Chr3:124449291 [GRCh37]
Chr3:125931981 [NCBI36]
Chr3:3q21.2
benign|not provided
NM_000373.4(UMPS):c.638G>C (p.Gly213Ala) single nucleotide variant Orotic aciduria [RCV000306897]|capecitabine response - Toxicity/ADR [RCV000211228]|fluorouracil response - Toxicity/ADR [RCV000211351]|leucovorin response - Toxicity/ADR [RCV000211405]|not provided [RCV000086510]|not specified [RCV000247148]|tegafur response - Toxicity/ADR [RCV000211224] Chr3:124737895 [GRCh38]
Chr3:124456742 [GRCh37]
Chr3:125939432 [NCBI36]
Chr3:3q21.2
benign|drug response|not provided
NM_000373.4(UMPS):c.983-55C>G single nucleotide variant not provided [RCV000086511] Chr3:124739969 [GRCh38]
Chr3:124458816 [GRCh37]
Chr3:125941506 [NCBI36]
Chr3:3q21.2
not provided
NM_000373.4(UMPS):c.1050T>A (p.Val350=) single nucleotide variant Orotic aciduria [RCV000277760]|not provided [RCV000086512] Chr3:124740091 [GRCh38]
Chr3:124458938 [GRCh37]
Chr3:125941628 [NCBI36]
Chr3:3q21.2
benign|likely benign|not provided
NM_000373.4(UMPS):c.1274-52G>C single nucleotide variant not provided [RCV000086513] Chr3:124743863 [GRCh38]
Chr3:124462710 [GRCh37]
Chr3:125945400 [NCBI36]
Chr3:3q21.2
not provided
NM_000373.4(UMPS):c.1408G>T (p.Ala470Ser) single nucleotide variant not provided [RCV000086514] Chr3:124744049 [GRCh38]
Chr3:124462896 [GRCh37]
Chr3:125945586 [NCBI36]
Chr3:3q21.2
not provided
NM_000373.4(UMPS):c.870dup (p.Thr291fs) duplication not provided [RCV000999543] Chr3:124738123..124738124 [GRCh38]
Chr3:124456970..124456971 [GRCh37]
Chr3:3q21.2
likely pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 copy number loss See cases [RCV000139033] Chr3:112620977..128734134 [GRCh38]
Chr3:112339824..128452977 [GRCh37]
Chr3:113822514..129935667 [NCBI36]
Chr3:3q13.2-21.3
pathogenic
GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1 copy number loss See cases [RCV000140814] Chr3:121925147..126782249 [GRCh38]
Chr3:121643994..126501092 [GRCh37]
Chr3:123126684..127983782 [NCBI36]
Chr3:3q13.33-21.3
pathogenic
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24
pathogenic
GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1 copy number loss See cases [RCV000143695] Chr3:118673898..126540730 [GRCh38]
Chr3:118392745..126259573 [GRCh37]
Chr3:119875435..127742263 [NCBI36]
Chr3:3q13.32-21.3
pathogenic
NM_000373.4(UMPS):c.*3589C>T single nucleotide variant Orotic aciduria [RCV000260480] Chr3:124747673 [GRCh38]
Chr3:124466520 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.*1051G>T single nucleotide variant Orotic aciduria [RCV000260820] Chr3:124745135 [GRCh38]
Chr3:124463982 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.*3732C>T single nucleotide variant Orotic aciduria [RCV000265009] Chr3:124747816 [GRCh38]
Chr3:124466663 [GRCh37]
Chr3:3q21.2
likely benign
NM_000373.4(UMPS):c.*1153C>T single nucleotide variant Orotic aciduria [RCV000262148] Chr3:124745237 [GRCh38]
Chr3:124464084 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*5014C>T single nucleotide variant Orotic aciduria [RCV000280839] Chr3:124749098 [GRCh38]
Chr3:124467945 [GRCh37]
Chr3:3q21.2
benign|uncertain significance
NM_000373.4(UMPS):c.*3131G>A single nucleotide variant Orotic aciduria [RCV000282257] Chr3:124747215 [GRCh38]
Chr3:124466062 [GRCh37]
Chr3:3q21.2
benign|uncertain significance
NM_000373.4(UMPS):c.*28A>G single nucleotide variant Orotic aciduria [RCV000282849] Chr3:124744112 [GRCh38]
Chr3:124462959 [GRCh37]
Chr3:3q21.2
benign|likely benign
NM_000373.4(UMPS):c.*1299del deletion Orotic aciduria [RCV000268229] Chr3:124745369 [GRCh38]
Chr3:124464216 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.*2202del deletion Orotic aciduria [RCV000269721] Chr3:124746285 [GRCh38]
Chr3:124465132 [GRCh37]
Chr3:3q21.2
likely benign
NM_000373.4(UMPS):c.*4511G>A single nucleotide variant Orotic aciduria [RCV000269838] Chr3:124748595 [GRCh38]
Chr3:124467442 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.1320C>T (p.Gly440=) single nucleotide variant Orotic aciduria [RCV000281908]|not specified [RCV000242374] Chr3:124743961 [GRCh38]
Chr3:124462808 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.88A>G (p.Ser30Gly) single nucleotide variant Hereditary orotic aciduria, type 1 [RCV000529613]|Orotic aciduria [RCV000360796]|not specified [RCV000250276] Chr3:124730559 [GRCh38]
Chr3:124449406 [GRCh37]
Chr3:3q21.2
benign|likely benign
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn) single nucleotide variant Hereditary orotic aciduria, type 1 [RCV000814195]|Orotic aciduria [RCV000271631]|not provided [RCV000489675] Chr3:124738114 [GRCh38]
Chr3:124456961 [GRCh37]
Chr3:3q21.2
likely pathogenic|uncertain significance
NM_000373.4(UMPS):c.*4485G>T single nucleotide variant Orotic aciduria [RCV000266446] Chr3:124748569 [GRCh38]
Chr3:124467416 [GRCh37]
Chr3:3q21.2
benign|likely benign
NM_000373.4(UMPS):c.*3065C>T single nucleotide variant Orotic aciduria [RCV000277398] Chr3:124747149 [GRCh38]
Chr3:124465996 [GRCh37]
Chr3:3q21.2
likely benign|uncertain significance
NM_000373.4(UMPS):c.1157C>T (p.Ala386Val) single nucleotide variant Orotic aciduria [RCV000332734] Chr3:124740198 [GRCh38]
Chr3:124459045 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*1520del deletion Orotic aciduria [RCV000314441] Chr3:124745604 [GRCh38]
Chr3:124464451 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*993A>T single nucleotide variant Orotic aciduria [RCV000314733] Chr3:124745077 [GRCh38]
Chr3:124463924 [GRCh37]
Chr3:3q21.2
benign|likely benign
NM_000373.4(UMPS):c.*3537G>A single nucleotide variant Orotic aciduria [RCV000353009] Chr3:124747621 [GRCh38]
Chr3:124466468 [GRCh37]
Chr3:3q21.2
benign|likely benign
NM_000373.4(UMPS):c.*1840A>G single nucleotide variant Orotic aciduria [RCV000301404] Chr3:124745924 [GRCh38]
Chr3:124464771 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4895A>G single nucleotide variant Orotic aciduria [RCV000334837] Chr3:124748979 [GRCh38]
Chr3:124467826 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*1211C>A single nucleotide variant Orotic aciduria [RCV000376865] Chr3:124745295 [GRCh38]
Chr3:124464142 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.1374T>C (p.Asp458=) single nucleotide variant Orotic aciduria [RCV000377621] Chr3:124744015 [GRCh38]
Chr3:124462862 [GRCh37]
Chr3:3q21.2
likely benign|uncertain significance
NM_000373.4(UMPS):c.*4344T>C single nucleotide variant Orotic aciduria [RCV000301798] Chr3:124748428 [GRCh38]
Chr3:124467275 [GRCh37]
Chr3:3q21.2
benign|uncertain significance
NM_000373.4(UMPS):c.*4278G>A single nucleotide variant Orotic aciduria [RCV000336252] Chr3:124748362 [GRCh38]
Chr3:124467209 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.1336A>G (p.Ile446Val) single nucleotide variant Orotic aciduria [RCV000318277] Chr3:124743977 [GRCh38]
Chr3:124462824 [GRCh37]
Chr3:3q21.2
benign|likely benign
NM_000373.4(UMPS):c.*1088T>G single nucleotide variant Orotic aciduria [RCV000357056] Chr3:124745172 [GRCh38]
Chr3:124464019 [GRCh37]
Chr3:3q21.2
benign|uncertain significance
NM_000373.4(UMPS):c.*3701C>T single nucleotide variant Orotic aciduria [RCV000357464] Chr3:124747785 [GRCh38]
Chr3:124466632 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*526A>G single nucleotide variant Orotic aciduria [RCV000402069] Chr3:124744610 [GRCh38]
Chr3:124463457 [GRCh37]
Chr3:3q21.2
benign|likely benign
NM_000373.4(UMPS):c.*983C>T single nucleotide variant Orotic aciduria [RCV000403473] Chr3:124745067 [GRCh38]
Chr3:124463914 [GRCh37]
Chr3:3q21.2
benign|likely benign
NM_000373.4(UMPS):c.*4016T>C single nucleotide variant Orotic aciduria [RCV000287420] Chr3:124748100 [GRCh38]
Chr3:124466947 [GRCh37]
Chr3:3q21.2
likely benign|uncertain significance
NM_000373.4(UMPS):c.*3359G>T single nucleotide variant Orotic aciduria [RCV000289388] Chr3:124747443 [GRCh38]
Chr3:124466290 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*1902G>A single nucleotide variant Orotic aciduria [RCV000358634] Chr3:124745986 [GRCh38]
Chr3:124464833 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4430C>T single nucleotide variant Orotic aciduria [RCV000358905] Chr3:124748514 [GRCh38]
Chr3:124467361 [GRCh37]
Chr3:3q21.2
benign|likely benign
NM_000373.4(UMPS):c.*2159C>T single nucleotide variant Orotic aciduria [RCV000304792] Chr3:124746243 [GRCh38]
Chr3:124465090 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*3152G>A single nucleotide variant Orotic aciduria [RCV000320943] Chr3:124747236 [GRCh38]
Chr3:124466083 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.*4078T>C single nucleotide variant Orotic aciduria [RCV000382910] Chr3:124748162 [GRCh38]
Chr3:124467009 [GRCh37]
Chr3:3q21.2
likely benign|uncertain significance
NM_000373.4(UMPS):c.*2356T>C single nucleotide variant Orotic aciduria [RCV000383705] Chr3:124746440 [GRCh38]
Chr3:124465287 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*1319G>A single nucleotide variant Orotic aciduria [RCV000288327] Chr3:124745403 [GRCh38]
Chr3:124464250 [GRCh37]
Chr3:3q21.2
benign|likely benign
NM_000373.4(UMPS):c.*4486G>A single nucleotide variant Orotic aciduria [RCV000305264] Chr3:124748570 [GRCh38]
Chr3:124467417 [GRCh37]
Chr3:3q21.2
benign|likely benign
NM_000373.4(UMPS):c.21T>C (p.Ala7=) single nucleotide variant Hereditary orotic aciduria, type 1 [RCV000887858]|Orotic aciduria [RCV000306042] Chr3:124730492 [GRCh38]
Chr3:124449339 [GRCh37]
Chr3:3q21.2
benign|likely benign|uncertain significance
NM_000373.4(UMPS):c.*1155T>C single nucleotide variant Orotic aciduria [RCV000322065] Chr3:124745239 [GRCh38]
Chr3:124464086 [GRCh37]
Chr3:3q21.2
likely benign|uncertain significance
NM_000373.4(UMPS):c.-19A>G single nucleotide variant Orotic aciduria [RCV000340976] Chr3:124730453 [GRCh38]
Chr3:124449300 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*1342C>T single nucleotide variant Orotic aciduria [RCV000383942] Chr3:124745426 [GRCh38]
Chr3:124464273 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4755G>A single nucleotide variant Orotic aciduria [RCV000384238] Chr3:124748839 [GRCh38]
Chr3:124467686 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*1711T>G single nucleotide variant Orotic aciduria [RCV000406938] Chr3:124745795 [GRCh38]
Chr3:124464642 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.*1517C>A single nucleotide variant Orotic aciduria [RCV000406945] Chr3:124745601 [GRCh38]
Chr3:124464448 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4316C>A single nucleotide variant Orotic aciduria [RCV000406959] Chr3:124748400 [GRCh38]
Chr3:124467247 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.*4252G>T single nucleotide variant Orotic aciduria [RCV000406961] Chr3:124748336 [GRCh38]
Chr3:124467183 [GRCh37]
Chr3:3q21.2
benign|likely benign
NM_000373.4(UMPS):c.*2672_*2673TG[26] microsatellite Orotic aciduria [RCV000407740] Chr3:124746755..124746756 [GRCh38]
Chr3:124465602..124465603 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*1349G>A single nucleotide variant Orotic aciduria [RCV000292294] Chr3:124745433 [GRCh38]
Chr3:124464280 [GRCh37]
Chr3:3q21.2
likely benign|uncertain significance
NM_000373.4(UMPS):c.*3990A>T single nucleotide variant Orotic aciduria [RCV000322518] Chr3:124748074 [GRCh38]
Chr3:124466921 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.*1298_*1299del deletion Orotic aciduria [RCV000323450] Chr3:124745369..124745370 [GRCh38]
Chr3:124464216..124464217 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*56del deletion Orotic aciduria [RCV000342485] Chr3:124744140 [GRCh38]
Chr3:124462987 [GRCh37]
Chr3:3q21.2
likely benign
NM_000373.4(UMPS):c.*4178A>G single nucleotide variant Orotic aciduria [RCV000385981] Chr3:124748262 [GRCh38]
Chr3:124467109 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*725A>T single nucleotide variant Orotic aciduria [RCV000344097] Chr3:124744809 [GRCh38]
Chr3:124463656 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.*2605G>A single nucleotide variant Orotic aciduria [RCV000387087] Chr3:124746689 [GRCh38]
Chr3:124465536 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4215C>T single nucleotide variant Orotic aciduria [RCV000294021] Chr3:124748299 [GRCh38]
Chr3:124467146 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2884A>G single nucleotide variant Orotic aciduria [RCV000309051] Chr3:124746968 [GRCh38]
Chr3:124465815 [GRCh37]
Chr3:3q21.2
likely benign
NM_000373.4(UMPS):c.*814C>T single nucleotide variant Orotic aciduria [RCV000309120] Chr3:124744898 [GRCh38]
Chr3:124463745 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4065C>T single nucleotide variant Orotic aciduria [RCV000326016] Chr3:124748149 [GRCh38]
Chr3:124466996 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2901G>C single nucleotide variant Orotic aciduria [RCV000366038] Chr3:124746985 [GRCh38]
Chr3:124465832 [GRCh37]
Chr3:3q21.2
likely benign
NM_000373.4(UMPS):c.827G>A (p.Ser276Asn) single nucleotide variant Orotic aciduria [RCV000366213] Chr3:124738084 [GRCh38]
Chr3:124456931 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4876C>G single nucleotide variant Orotic aciduria [RCV000388147] Chr3:124748960 [GRCh38]
Chr3:124467807 [GRCh37]
Chr3:3q21.2
likely benign|uncertain significance
NM_000373.4(UMPS):c.*2230C>T single nucleotide variant Orotic aciduria [RCV000327101] Chr3:124746314 [GRCh38]
Chr3:124465161 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4717C>T single nucleotide variant Orotic aciduria [RCV000327388] Chr3:124748801 [GRCh38]
Chr3:124467648 [GRCh37]
Chr3:3q21.2
benign|likely benign
NM_000373.4(UMPS):c.*3367C>A single nucleotide variant Orotic aciduria [RCV000346741] Chr3:124747451 [GRCh38]
Chr3:124466298 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.1038A>G (p.Pro346=) single nucleotide variant Hereditary orotic aciduria, type 1 [RCV000974686]|Orotic aciduria [RCV000367608] Chr3:124740079 [GRCh38]
Chr3:124458926 [GRCh37]
Chr3:3q21.2
benign|likely benign
NM_000373.4(UMPS):c.*3264G>A single nucleotide variant Orotic aciduria [RCV000390254] Chr3:124747348 [GRCh38]
Chr3:124466195 [GRCh37]
Chr3:3q21.2
likely benign|uncertain significance
NM_000373.4(UMPS):c.*2614G>A single nucleotide variant Orotic aciduria [RCV000295287] Chr3:124746698 [GRCh38]
Chr3:124465545 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.*4138T>G single nucleotide variant Orotic aciduria [RCV000347741] Chr3:124748222 [GRCh38]
Chr3:124467069 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.*1326C>A single nucleotide variant Orotic aciduria [RCV000348000] Chr3:124745410 [GRCh38]
Chr3:124464257 [GRCh37]
Chr3:3q21.2
benign|likely benign
NM_000373.4(UMPS):c.*3414A>G single nucleotide variant Orotic aciduria [RCV000368107] Chr3:124747498 [GRCh38]
Chr3:124466345 [GRCh37]
Chr3:3q21.2
benign|likely benign
NM_000373.4(UMPS):c.*3026G>A single nucleotide variant Orotic aciduria [RCV000369408] Chr3:124747110 [GRCh38]
Chr3:124465957 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.*1050C>T single nucleotide variant Orotic aciduria [RCV000369471] Chr3:124745134 [GRCh38]
Chr3:124463981 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*3374C>G single nucleotide variant Orotic aciduria [RCV000391767] Chr3:124747458 [GRCh38]
Chr3:124466305 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.18A>G (p.Ala6=) single nucleotide variant Hereditary orotic aciduria, type 1 [RCV000892542]|Orotic aciduria [RCV000391856] Chr3:124730489 [GRCh38]
Chr3:124449336 [GRCh37]
Chr3:3q21.2
benign|likely benign|uncertain significance
NM_000373.4(UMPS):c.*3447T>C single nucleotide variant Orotic aciduria [RCV000392556] Chr3:124747531 [GRCh38]
Chr3:124466378 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4883C>T single nucleotide variant Orotic aciduria [RCV000295980] Chr3:124748967 [GRCh38]
Chr3:124467814 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*3376C>T single nucleotide variant Orotic aciduria [RCV000311137] Chr3:124747460 [GRCh38]
Chr3:124466307 [GRCh37]
Chr3:3q21.2
benign|likely benign
NM_000373.4(UMPS):c.*726C>T single nucleotide variant Orotic aciduria [RCV000392625] Chr3:124744810 [GRCh38]
Chr3:124463657 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.*1080A>G single nucleotide variant Orotic aciduria [RCV000297553] Chr3:124745164 [GRCh38]
Chr3:124464011 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2412_*2414GAA[1] microsatellite Orotic aciduria [RCV000330189] Chr3:124746495..124746497 [GRCh38]
Chr3:124465342..124465344 [GRCh37]
Chr3:3q21.2
likely benign
NM_000373.4(UMPS):c.*868del deletion Orotic aciduria [RCV000349926] Chr3:124744952 [GRCh38]
Chr3:124463799 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.1273+14C>T single nucleotide variant Orotic aciduria [RCV000371765] Chr3:124742280 [GRCh38]
Chr3:124461127 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4263T>C single nucleotide variant Orotic aciduria [RCV000297626] Chr3:124748347 [GRCh38]
Chr3:124467194 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2995A>G single nucleotide variant Orotic aciduria [RCV000331307] Chr3:124747079 [GRCh38]
Chr3:124465926 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.953T>C (p.Ile318Thr) single nucleotide variant Orotic aciduria [RCV000331596] Chr3:124738210 [GRCh38]
Chr3:124457057 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*3130C>T single nucleotide variant Orotic aciduria [RCV000373027] Chr3:124747214 [GRCh38]
Chr3:124466061 [GRCh37]
Chr3:3q21.2
likely benign|uncertain significance
NM_000373.4(UMPS):c.*4906G>C single nucleotide variant Orotic aciduria [RCV000373097] Chr3:124748990 [GRCh38]
Chr3:124467837 [GRCh37]
Chr3:3q21.2
benign|likely benign
NM_000373.4(UMPS):c.*2672_*2673TG[22] microsatellite Orotic aciduria [RCV000280072] Chr3:124746755..124746756 [GRCh38]
Chr3:124465602..124465603 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2672_*2673TG[20] microsatellite Orotic aciduria [RCV000282909] Chr3:124746756..124746757 [GRCh38]
Chr3:124465603..124465604 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2410_*2412del deletion Orotic aciduria [RCV000272890] Chr3:124746494..124746496 [GRCh38]
Chr3:124465341..124465343 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4765_*4767del deletion Orotic aciduria [RCV000273792] Chr3:124748847..124748849 [GRCh38]
Chr3:124467694..124467696 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2930_*2933TTTG[4] microsatellite Orotic aciduria [RCV000273851] Chr3:124747013..124747014 [GRCh38]
Chr3:124465860..124465861 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.*2672_*2673TG[24] microsatellite Orotic aciduria [RCV000336903] Chr3:124746755..124746756 [GRCh38]
Chr3:124465602..124465603 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2672_*2673TG[25] microsatellite Orotic aciduria [RCV000391946] Chr3:124746755..124746756 [GRCh38]
Chr3:124465602..124465603 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2054A>G single nucleotide variant Orotic aciduria [RCV000266271] Chr3:124746138 [GRCh38]
Chr3:124464985 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*3495T>C single nucleotide variant Orotic aciduria [RCV000314505] Chr3:124747579 [GRCh38]
Chr3:124466426 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2172A>G single nucleotide variant Orotic aciduria [RCV000361864] Chr3:124746256 [GRCh38]
Chr3:124465103 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2715_*2718del deletion Orotic aciduria [RCV000362129] Chr3:124746796..124746799 [GRCh38]
Chr3:124465643..124465646 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4496G>A single nucleotide variant Orotic aciduria [RCV000362193] Chr3:124748580 [GRCh38]
Chr3:124467427 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*5120_*5124del deletion Orotic aciduria [RCV000399075] Chr3:124749201..124749205 [GRCh38]
Chr3:124468048..124468052 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*5133del deletion Orotic aciduria [RCV000303328] Chr3:124749217 [GRCh38]
Chr3:124468064 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*3083G>T single nucleotide variant Orotic aciduria [RCV000316102] Chr3:124747167 [GRCh38]
Chr3:124466014 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4862A>G single nucleotide variant Orotic aciduria [RCV000331257] Chr3:124748946 [GRCh38]
Chr3:124467793 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*1306_*1307del deletion Orotic aciduria [RCV000382658] Chr3:124745389..124745390 [GRCh38]
Chr3:124464236..124464237 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2703G>A single nucleotide variant Orotic aciduria [RCV000305190] Chr3:124746787 [GRCh38]
Chr3:124465634 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*3598C>G single nucleotide variant Orotic aciduria [RCV000318007] Chr3:124747682 [GRCh38]
Chr3:124466529 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2716T>C single nucleotide variant Orotic aciduria [RCV000404628] Chr3:124746800 [GRCh38]
Chr3:124465647 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.441T>C (p.Thr147=) single nucleotide variant Orotic aciduria [RCV000404632] Chr3:124737698 [GRCh38]
Chr3:124456545 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*1535G>A single nucleotide variant Orotic aciduria [RCV000334313] Chr3:124745619 [GRCh38]
Chr3:124464466 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*1418T>A single nucleotide variant Orotic aciduria [RCV000349515] Chr3:124745502 [GRCh38]
Chr3:124464349 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4231A>G single nucleotide variant Orotic aciduria [RCV000351228] Chr3:124748315 [GRCh38]
Chr3:124467162 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*3193T>C single nucleotide variant Orotic aciduria [RCV000285783] Chr3:124747277 [GRCh38]
Chr3:124466124 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2632C>A single nucleotide variant Orotic aciduria [RCV000352456] Chr3:124746716 [GRCh38]
Chr3:124465563 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*5027A>G single nucleotide variant Orotic aciduria [RCV000338258] Chr3:124749111 [GRCh38]
Chr3:124467958 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2671T>G single nucleotide variant Orotic aciduria [RCV000372269] Chr3:124746755 [GRCh38]
Chr3:124465602 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2672_*2673TG[18] microsatellite Orotic aciduria [RCV000340235] Chr3:124746756..124746761 [GRCh38]
Chr3:124465603..124465608 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*691C>G single nucleotide variant Orotic aciduria [RCV000288639] Chr3:124744775 [GRCh38]
Chr3:124463622 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.3(UMPS):c.-110A>G single nucleotide variant Orotic aciduria [RCV000266064]|not provided [RCV000086507] Chr3:124730362 [GRCh38]
Chr3:124449209 [GRCh37]
Chr3:125931899 [NCBI36]
Chr3:3q21.2
benign|not provided
NM_000373.4(UMPS):c.*3258A>C single nucleotide variant Orotic aciduria [RCV000343189] Chr3:124747342 [GRCh38]
Chr3:124466189 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*3183dup duplication Orotic aciduria [RCV000377788] Chr3:124747266..124747267 [GRCh38]
Chr3:124466113..124466114 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.*4116G>A single nucleotide variant Orotic aciduria [RCV000290841] Chr3:124748200 [GRCh38]
Chr3:124467047 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4013_*4017ATATA[1] microsatellite Orotic aciduria [RCV000379510] Chr3:124748097..124748101 [GRCh38]
Chr3:124466944..124466948 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.126C>A (p.Gly42=) single nucleotide variant Hereditary orotic aciduria, type 1 [RCV001088895]|not provided [RCV000593609] Chr3:124730597 [GRCh38]
Chr3:124449444 [GRCh37]
Chr3:3q21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000373.4(UMPS):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV000722619] Chr3:124730473 [GRCh38]
Chr3:124449320 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser) single nucleotide variant Orotic aciduria [RCV000626243] Chr3:124740164 [GRCh38]
Chr3:124459011 [GRCh37]
Chr3:3q21.2
likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_000373.4(UMPS):c.982+1G>C single nucleotide variant Hereditary orotic aciduria, type 1 [RCV000634546] Chr3:124738240 [GRCh38]
Chr3:124457087 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.1375C>G (p.Arg459Gly) single nucleotide variant Hereditary orotic aciduria, type 1 [RCV000634547] Chr3:124744016 [GRCh38]
Chr3:124462863 [GRCh37]
Chr3:3q21.2
uncertain significance
GRCh37/hg19 3q21.1-21.2(chr3:122698091-125036994)x1 copy number loss not provided [RCV000682303] Chr3:122698091..125036994 [GRCh37]
Chr3:3q21.1-21.2
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_000373.4(UMPS):c.1296C>T (p.Tyr432=) single nucleotide variant not provided [RCV000895206] Chr3:124743937 [GRCh38]
Chr3:124462784 [GRCh37]
Chr3:3q21.2
likely benign
NM_000373.4(UMPS):c.670G>T (p.Glu224Ter) single nucleotide variant not provided [RCV000760808] Chr3:124737927 [GRCh38]
Chr3:124456774 [GRCh37]
Chr3:3q21.2
pathogenic
NM_000373.4(UMPS):c.*4782G>A single nucleotide variant Orotic aciduria [RCV001147210] Chr3:124748866 [GRCh38]
Chr3:124467713 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*516A>G single nucleotide variant Orotic aciduria [RCV001147700] Chr3:124744600 [GRCh38]
Chr3:124463447 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*1931G>A single nucleotide variant Orotic aciduria [RCV001147803] Chr3:124746015 [GRCh38]
Chr3:124464862 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.1290A>G (p.Gln430=) single nucleotide variant Hereditary orotic aciduria, type 1 [RCV000973819]|Orotic aciduria [RCV001146807] Chr3:124743931 [GRCh38]
Chr3:124462778 [GRCh37]
Chr3:3q21.2
benign|uncertain significance
NM_000373.4(UMPS):c.681C>T (p.Phe227=) single nucleotide variant not provided [RCV000884263] Chr3:124737938 [GRCh38]
Chr3:124456785 [GRCh37]
Chr3:3q21.2
likely benign
NM_000373.4(UMPS):c.210C>T (p.Thr70=) single nucleotide variant not provided [RCV000914247] Chr3:124735146 [GRCh38]
Chr3:124453993 [GRCh37]
Chr3:3q21.2
likely benign
NM_000373.4(UMPS):c.1418_1419del (p.Ala473fs) deletion Hereditary orotic aciduria, type 1 [RCV001048493] Chr3:124744058..124744059 [GRCh38]
Chr3:124462905..124462906 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.385G>T (p.Gly129Ter) single nucleotide variant Orotic aciduria [RCV000779380] Chr3:124737642 [GRCh38]
Chr3:124456489 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.286A>G (p.Arg96Gly) single nucleotide variant not provided [RCV000782231] Chr3:124735222 [GRCh38]
Chr3:124454069 [GRCh37]
Chr3:3q21.2
likely benign
NM_000373.4(UMPS):c.336T>A (p.Thr112=) single nucleotide variant not provided [RCV000894922] Chr3:124737593 [GRCh38]
Chr3:124456440 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.1017A>G (p.Leu339=) single nucleotide variant not provided [RCV000902920] Chr3:124740058 [GRCh38]
Chr3:124458905 [GRCh37]
Chr3:3q21.2
likely benign
NM_000373.4(UMPS):c.310+8A>G single nucleotide variant not provided [RCV000939286] Chr3:124735254 [GRCh38]
Chr3:124454101 [GRCh37]
Chr3:3q21.2
likely benign
NM_000373.4(UMPS):c.495G>A (p.Ala165=) single nucleotide variant Hereditary orotic aciduria, type 1 [RCV000966317]|Orotic aciduria [RCV001150932] Chr3:124737752 [GRCh38]
Chr3:124456599 [GRCh37]
Chr3:3q21.2
benign|uncertain significance
NM_000373.4(UMPS):c.768A>G (p.Leu256=) single nucleotide variant Orotic aciduria [RCV001150933]|not provided [RCV000894816] Chr3:124738025 [GRCh38]
Chr3:124456872 [GRCh37]
Chr3:3q21.2
likely benign|uncertain significance
GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192) copy number loss not provided [RCV000767706] Chr3:124369671..126423192 [GRCh37]
Chr3:3q21.2-21.3
likely pathogenic
NM_000373.4(UMPS):c.636T>C (p.Asn212=) single nucleotide variant not provided [RCV000915409] Chr3:124737893 [GRCh38]
Chr3:124456740 [GRCh37]
Chr3:3q21.2
likely benign
NM_000373.4(UMPS):c.1285G>C (p.Gly429Arg) single nucleotide variant not provided [RCV000782232] Chr3:124743926 [GRCh38]
Chr3:124462773 [GRCh37]
Chr3:3q21.2
likely benign
NM_000373.4(UMPS):c.1211C>T (p.Ser404Phe) single nucleotide variant Hereditary orotic aciduria, type 1 [RCV000818701] Chr3:124742204 [GRCh38]
Chr3:124461051 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*1192C>T single nucleotide variant Orotic aciduria [RCV001146897] Chr3:124745276 [GRCh38]
Chr3:124464123 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2035C>T single nucleotide variant Orotic aciduria [RCV001149349] Chr3:124746119 [GRCh38]
Chr3:124464966 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2197A>G single nucleotide variant Orotic aciduria [RCV001149351] Chr3:124746281 [GRCh38]
Chr3:124465128 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*5085C>A single nucleotide variant Orotic aciduria [RCV001148103] Chr3:124749169 [GRCh38]
Chr3:124468016 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*37C>T single nucleotide variant Orotic aciduria [RCV001147695] Chr3:124744121 [GRCh38]
Chr3:124462968 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*882G>C single nucleotide variant Orotic aciduria [RCV001151048] Chr3:124744966 [GRCh38]
Chr3:124463813 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2741C>T single nucleotide variant Orotic aciduria [RCV001147003] Chr3:124746825 [GRCh38]
Chr3:124465672 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.499G>A (p.Gly167Arg) single nucleotide variant Hereditary orotic aciduria, type 1 [RCV000794181] Chr3:124737756 [GRCh38]
Chr3:124456603 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.1158+10G>C single nucleotide variant Orotic aciduria [RCV001146806] Chr3:124740209 [GRCh38]
Chr3:124459056 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.1316T>C (p.Ile439Thr) single nucleotide variant Orotic aciduria [RCV001146808] Chr3:124743957 [GRCh38]
Chr3:124462804 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*1249C>G single nucleotide variant Orotic aciduria [RCV001146898] Chr3:124745333 [GRCh38]
Chr3:124464180 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2711G>A single nucleotide variant Orotic aciduria [RCV001147001] Chr3:124746795 [GRCh38]
Chr3:124465642 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.1063C>A (p.Gln355Lys) single nucleotide variant Hereditary orotic aciduria, type 1 [RCV001213416] Chr3:124740104 [GRCh38]
Chr3:124458951 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*1128G>T single nucleotide variant Orotic aciduria [RCV001144950] Chr3:124745212 [GRCh38]
Chr3:124464059 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2631C>G single nucleotide variant Orotic aciduria [RCV001145053] Chr3:124746715 [GRCh38]
Chr3:124465562 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4570C>T single nucleotide variant Orotic aciduria [RCV001145250] Chr3:124748654 [GRCh38]
Chr3:124467501 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4638G>A single nucleotide variant Orotic aciduria [RCV001145252] Chr3:124748722 [GRCh38]
Chr3:124467569 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.689G>A (p.Arg230His) single nucleotide variant Hereditary orotic aciduria, type 1 [RCV001234258] Chr3:124737946 [GRCh38]
Chr3:124456793 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2231G>A single nucleotide variant Orotic aciduria [RCV001149352] Chr3:124746315 [GRCh38]
Chr3:124465162 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*469C>T single nucleotide variant Orotic aciduria [RCV001147699] Chr3:124744553 [GRCh38]
Chr3:124463400 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*1843A>C single nucleotide variant Orotic aciduria [RCV001147801] Chr3:124745927 [GRCh38]
Chr3:124464774 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.726G>A (p.Lys242=) single nucleotide variant not provided [RCV000973345] Chr3:124737983 [GRCh38]
Chr3:124456830 [GRCh37]
Chr3:3q21.2
likely benign
NM_000373.4(UMPS):c.498C>T (p.His166=) single nucleotide variant not provided [RCV000898240] Chr3:124737755 [GRCh38]
Chr3:124456602 [GRCh37]
Chr3:3q21.2
likely benign
NM_000373.4(UMPS):c.*2552A>G single nucleotide variant Orotic aciduria [RCV001145052] Chr3:124746636 [GRCh38]
Chr3:124465483 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*3494G>A single nucleotide variant Orotic aciduria [RCV001145147] Chr3:124747578 [GRCh38]
Chr3:124466425 [GRCh37]
Chr3:3q21.2
likely benign
NM_000373.4(UMPS):c.*274C>T single nucleotide variant Orotic aciduria [RCV001147697] Chr3:124744358 [GRCh38]
Chr3:124463205 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*348C>T single nucleotide variant Orotic aciduria [RCV001147698] Chr3:124744432 [GRCh38]
Chr3:124463279 [GRCh37]
Chr3:3q21.2
likely benign
NM_000373.4(UMPS):c.*1853G>A single nucleotide variant Orotic aciduria [RCV001147802] Chr3:124745937 [GRCh38]
Chr3:124464784 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4119T>C single nucleotide variant Orotic aciduria [RCV001148004] Chr3:124748203 [GRCh38]
Chr3:124467050 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2036A>T single nucleotide variant Orotic aciduria [RCV001149350] Chr3:124746120 [GRCh38]
Chr3:124464967 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*3326C>T single nucleotide variant Orotic aciduria [RCV001149437] Chr3:124747410 [GRCh38]
Chr3:124466257 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.449T>A (p.Ile150Lys) single nucleotide variant Hereditary orotic aciduria, type 1 [RCV001217980] Chr3:124737706 [GRCh38]
Chr3:124456553 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.627G>A (p.Ala209=) single nucleotide variant not provided [RCV000912763] Chr3:124737884 [GRCh38]
Chr3:124456731 [GRCh37]
Chr3:3q21.2
likely benign
NM_000373.4(UMPS):c.*3512C>G single nucleotide variant Orotic aciduria [RCV001145148] Chr3:124747596 [GRCh38]
Chr3:124466443 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*3594A>G single nucleotide variant Orotic aciduria [RCV001145149] Chr3:124747678 [GRCh38]
Chr3:124466525 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4693G>A single nucleotide variant Orotic aciduria [RCV001145254] Chr3:124748777 [GRCh38]
Chr3:124467624 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4672C>T single nucleotide variant Orotic aciduria [RCV001145253] Chr3:124748756 [GRCh38]
Chr3:124467603 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.1052T>C (p.Val351Ala) single nucleotide variant Orotic aciduria [RCV001144837] Chr3:124740093 [GRCh38]
Chr3:124458940 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.1117T>G (p.Ser373Ala) single nucleotide variant Orotic aciduria [RCV001144839] Chr3:124740158 [GRCh38]
Chr3:124459005 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*1100C>T single nucleotide variant Orotic aciduria [RCV001144949] Chr3:124745184 [GRCh38]
Chr3:124464031 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4623C>T single nucleotide variant Orotic aciduria [RCV001145251] Chr3:124748707 [GRCh38]
Chr3:124467554 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.799T>C (p.Leu267=) single nucleotide variant Orotic aciduria [RCV001150934] Chr3:124738056 [GRCh38]
Chr3:124456903 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.1158G>A (p.Ala386=) single nucleotide variant Orotic aciduria [RCV001146805] Chr3:124740199 [GRCh38]
Chr3:124459046 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2718C>T single nucleotide variant Orotic aciduria [RCV001147002] Chr3:124746802 [GRCh38]
Chr3:124465649 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.*3785C>G single nucleotide variant Orotic aciduria [RCV001147115] Chr3:124747869 [GRCh38]
Chr3:124466716 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.*4934A>G single nucleotide variant Orotic aciduria [RCV001147211] Chr3:124749018 [GRCh38]
Chr3:124467865 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*3020G>A single nucleotide variant Orotic aciduria [RCV001147894] Chr3:124747104 [GRCh38]
Chr3:124465951 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.703A>G (p.Arg235Gly) single nucleotide variant Hereditary orotic aciduria, type 1 [RCV001047177] Chr3:124737960 [GRCh38]
Chr3:124456807 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.1088G>A (p.Arg363Gln) single nucleotide variant Orotic aciduria [RCV001144838] Chr3:124740129 [GRCh38]
Chr3:124458976 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*4739G>T single nucleotide variant Orotic aciduria [RCV001145255] Chr3:124748823 [GRCh38]
Chr3:124467670 [GRCh37]
Chr3:3q21.2
benign
NM_000373.4(UMPS):c.*4432A>G single nucleotide variant Orotic aciduria [RCV001149544] Chr3:124748516 [GRCh38]
Chr3:124467363 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*2783C>T single nucleotide variant Orotic aciduria [RCV001147004] Chr3:124746867 [GRCh38]
Chr3:124465714 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.105C>T (p.Pro35=) single nucleotide variant Orotic aciduria [RCV001150931] Chr3:124730576 [GRCh38]
Chr3:124449423 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.811G>C (p.Asp271His) single nucleotide variant Orotic aciduria [RCV001150935] Chr3:124738068 [GRCh38]
Chr3:124456915 [GRCh37]
Chr3:3q21.2
uncertain significance
NM_000373.4(UMPS):c.*255T>C single nucleotide variant Orotic aciduria [RCV001147696] Chr3:124744339 [GRCh38]
Chr3:124463186 [GRCh37]
Chr3:3q21.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12563 AgrOrtholog
COSMIC UMPS COSMIC
Ensembl Genes ENSG00000114491 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000232607 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000417893 UniProtKB/TrEMBL
  ENSP00000419121 UniProtKB/TrEMBL
  ENSP00000419618 UniProtKB/TrEMBL
  ENSP00000420348 UniProtKB/TrEMBL
  ENSP00000420409 UniProtKB/TrEMBL
  ENSP00000420754 UniProtKB/TrEMBL
  ENSP00000486143 UniProtKB/TrEMBL
Ensembl Transcript ENST00000232607 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000460034 UniProtKB/TrEMBL
  ENST00000462091 UniProtKB/TrEMBL
  ENST00000467167 UniProtKB/TrEMBL
  ENST00000474588 UniProtKB/TrEMBL
  ENST00000479719 UniProtKB/TrEMBL
  ENST00000497791 UniProtKB/TrEMBL
  ENST00000628619 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.2020 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000114491 GTEx
HGNC ID HGNC:12563 ENTREZGENE
Human Proteome Map UMPS Human Proteome Map
InterPro Aldolase_TIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OMPdecase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OMPdecase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OMPdeCOase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OPRT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Or_phspho_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRibTrfase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRTase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RibuloseP-bd_barrel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7372 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7372 ENTREZGENE
OMIM 258900 OMIM
  613891 OMIM
PANTHER PTHR32119:SF2 UniProtKB/TrEMBL
Pfam OMPdecase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pribosyltran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA363 PharmGKB, RGD
PROSITE OMPDECASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUR_PYR_PR_TRANSFER UniProtKB/Swiss-Prot
SMART OMPdecase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51366 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53271 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs pyrE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  pyrF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K5J1 ENTREZGENE, UniProtKB/TrEMBL
  B5LY64_HUMAN UniProtKB/TrEMBL
  B5LY67_HUMAN UniProtKB/TrEMBL
  B5LY69_HUMAN UniProtKB/TrEMBL
  B5LY70_HUMAN UniProtKB/TrEMBL
  B5LY71_HUMAN UniProtKB/TrEMBL
  E9PFD2_HUMAN UniProtKB/TrEMBL
  F2Z303_HUMAN UniProtKB/TrEMBL
  F2Z3P2_HUMAN UniProtKB/TrEMBL
  F8WDG4_HUMAN UniProtKB/TrEMBL
  P11172 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B5LY68 UniProtKB/Swiss-Prot
  B5LY72 UniProtKB/Swiss-Prot
  O00758 UniProtKB/Swiss-Prot
  O00759 UniProtKB/Swiss-Prot
  O00760 UniProtKB/Swiss-Prot
  Q16862 UniProtKB/Swiss-Prot
  Q9H3Q2 UniProtKB/Swiss-Prot
  Q9UG49 UniProtKB/Swiss-Prot