NUDT1 (nudix hydrolase 1) - Rat Genome Database

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Gene: NUDT1 (nudix hydrolase 1) Homo sapiens
Analyze
Symbol: NUDT1
Name: nudix hydrolase 1
RGD ID: 731881
HGNC Page HGNC:8048
Description: Enables nucleoside triphosphate diphosphatase activity. Involved in DNA protection and purine nucleoside catabolic process. Located in cytosol; mitochondrial matrix; and nucleus. Biomarker of Alzheimer's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 2-hydroxy-dATP diphosphatase; 7,8-dihydro-8-oxoguanine triphosphatase; 8-oxo-7,8-dihydrodeoxyguanosine triphosphatase; 8-oxo-7,8-dihydroguanosine triphosphatase; 8-oxo-dGTPase; methylated purine nucleoside triphosphate hydrolase; MTH1; mutt (e. coli) human homolog (8-oxo-dgtpase); mutT human homolog 1; nucleoside diphosphate-linked moiety X motif 1; nucleoside diphosphate-linked moiety X-type motif 1; nudix (nucleoside diphosphate linked moiety X)-type motif 1; nudix motif 1; oxidized purine nucleoside triphosphate hydrolase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3872,242,226 - 2,251,145 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl72,242,226 - 2,251,146 (+)EnsemblGRCh38hg38GRCh38
GRCh3772,281,861 - 2,290,780 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3672,248,383 - 2,257,306 (+)NCBINCBI36Build 36hg18NCBI36
Build 3472,055,780 - 2,064,021NCBI
Celera72,251,549 - 2,260,471 (+)NCBICelera
Cytogenetic Map7p22.3NCBI
HuRef72,201,140 - 2,210,062 (+)NCBIHuRef
CHM1_172,281,464 - 2,290,386 (+)NCBICHM1_1
T2T-CHM13v2.072,355,644 - 2,364,561 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v272,330,533 - 2,339,455 (+)NCBI
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
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
beauvericin  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
cerium trichloride  (EXP)
chlordecone  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dimethyl sulfoxide  (EXP)
dioxygen  (EXP)
enniatin  (EXP)
Enterolactone  (EXP)
epoxiconazole  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
hydrogen peroxide  (EXP)
imiquimod  (ISO)
indometacin  (EXP)
ivermectin  (EXP)
lanthanum trichloride  (EXP)
methapyrilene  (EXP)
N,N-diethyl-m-toluamide  (ISO)
nitrogen dioxide  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP)
permethrin  (ISO)
phenobarbital  (EXP)
pirinixic acid  (ISO)
propiconazole  (ISO)
Pyridostigmine bromide  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
temozolomide  (EXP)
testosterone  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
tremolite asbestos  (ISO)
trimellitic anhydride  (ISO)
troglitazone  (EXP,ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
acrosomal vesicle  (IEA,ISO)
cytoplasm  (IBA,IDA,IEA)
cytosol  (IDA,IEA,TAS)
extracellular space  (IEA,ISO)
mitochondrial matrix  (IDA,IEA)
mitochondrion  (HTP,IDA,IEA)
nuclear membrane  (IEA,ISO)
nucleus  (IDA,IEA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Accumulation of 8-oxo-deoxyguanosine in cardiovascular tissues with the development of hypertension. Ohtsubo T, etal., DNA Repair (Amst). 2007 Jun 1;6(6):760-9. Epub 2007 Feb 5.
3. The absence of Mth1 inactivation and DNA polymerase kappa overexpression in rat mammary carcinomas with frequent A:T to C:G transversions. Okochi E, etal., Jpn J Cancer Res 2002 May;93(5):501-6.
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Oxidative damage to RNA and expression patterns of MTH1 in the hippocampi of senescence-accelerated SAMP8 mice and Alzheimer's disease patients. Song XN, etal., Neurochem Res. 2011 Aug;36(8):1558-65. doi: 10.1007/s11064-011-0484-4. Epub 2011 May 3.
6. Immunohistochemical detection of 8-hydroxy-2'-deoxyguanosine in paraffin-embedded sections of rat liver after carbon tetrachloride treatment. Takahashi S, etal., Toxicol Pathol. 1998 Mar-Apr;26(2):247-52.
Additional References at PubMed
PMID:7713494   PMID:7713500   PMID:7782328   PMID:8226881   PMID:9211940   PMID:10373420   PMID:10536140   PMID:10608900   PMID:11136354   PMID:11139615   PMID:11572992   PMID:11756418  
PMID:11852070   PMID:12051680   PMID:12051941   PMID:12477932   PMID:12619034   PMID:12690205   PMID:12717453   PMID:12757855   PMID:12857738   PMID:12903117   PMID:12957652   PMID:14634838  
PMID:15095864   PMID:15133035   PMID:15449173   PMID:15489334   PMID:15516784   PMID:15654505   PMID:15730954   PMID:15931596   PMID:16600130   PMID:16607562   PMID:16774934   PMID:17142918  
PMID:17207658   PMID:17252231   PMID:17353931   PMID:17417778   PMID:17917452   PMID:18029348   PMID:18091433   PMID:18270339   PMID:18510611   PMID:18515411   PMID:18708163   PMID:18776649  
PMID:18848840   PMID:20144704   PMID:20453000   PMID:21145461   PMID:21289483   PMID:21355073   PMID:21421019   PMID:21784087   PMID:21787772   PMID:21873635   PMID:22556419   PMID:22688191  
PMID:22790201   PMID:22841817   PMID:22974734   PMID:23295485   PMID:23376485   PMID:23396182   PMID:23974872   PMID:24144844   PMID:24695224   PMID:24695225   PMID:24928220   PMID:25023700  
PMID:25127756   PMID:25416956   PMID:25893378   PMID:26202347   PMID:26238318   PMID:26520386   PMID:26730155   PMID:26755138   PMID:26760575   PMID:26862114   PMID:26980051   PMID:27210421  
PMID:27350386   PMID:27432908   PMID:27714533   PMID:27827301   PMID:27917618   PMID:28035004   PMID:28340109   PMID:28514442   PMID:28577950   PMID:28882182   PMID:28947420   PMID:28986522  
PMID:29442275   PMID:29661172   PMID:29773556   PMID:29900613   PMID:30055508   PMID:30304478   PMID:30463901   PMID:30614695   PMID:30773093   PMID:31056398   PMID:31253590   PMID:31311767  
PMID:31515488   PMID:31604991   PMID:31732994   PMID:31883466   PMID:32144205   PMID:32296183   PMID:32341205   PMID:32628020   PMID:32687490   PMID:32814053   PMID:32877752   PMID:33021405  
PMID:33067960   PMID:33096144   PMID:33130078   PMID:33238630   PMID:33567341   PMID:33729478   PMID:33737576   PMID:33961781   PMID:34624481   PMID:34800366   PMID:35156780   PMID:35809767  
PMID:35831314   PMID:36114006   PMID:36130054   PMID:36215168   PMID:36724073   PMID:36914375   PMID:37848855   PMID:39075342  


Genomics

Comparative Map Data
NUDT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3872,242,226 - 2,251,145 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl72,242,226 - 2,251,146 (+)EnsemblGRCh38hg38GRCh38
GRCh3772,281,861 - 2,290,780 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3672,248,383 - 2,257,306 (+)NCBINCBI36Build 36hg18NCBI36
Build 3472,055,780 - 2,064,021NCBI
Celera72,251,549 - 2,260,471 (+)NCBICelera
Cytogenetic Map7p22.3NCBI
HuRef72,201,140 - 2,210,062 (+)NCBIHuRef
CHM1_172,281,464 - 2,290,386 (+)NCBICHM1_1
T2T-CHM13v2.072,355,644 - 2,364,561 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v272,330,533 - 2,339,455 (+)NCBI
Nudt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395140,307,375 - 140,323,892 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5140,307,411 - 140,323,892 (+)EnsemblGRCm39 Ensembl
GRCm385140,321,622 - 140,338,137 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5140,321,656 - 140,338,137 (+)EnsemblGRCm38mm10GRCm38
MGSCv375140,807,876 - 140,814,089 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365140,584,396 - 140,590,609 (+)NCBIMGSCv36mm8
Celera5137,390,656 - 137,396,879 (+)NCBICelera
Cytogenetic Map5G2NCBI
cM Map578.94NCBI
Nudt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81219,416,411 - 19,423,448 (-)NCBIGRCr8
mRatBN7.21214,302,514 - 14,309,559 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1214,302,694 - 14,305,826 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1215,110,350 - 15,113,649 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01215,733,848 - 15,737,147 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01214,760,555 - 14,763,860 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01216,391,578 - 16,398,771 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1216,391,578 - 16,395,029 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01218,384,329 - 18,391,351 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41214,775,536 - 14,778,845 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11214,805,463 - 14,808,773 (-)NCBI
Celera1216,061,302 - 16,064,584 (-)NCBICelera
Cytogenetic Map12q11NCBI
Nudt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554609,678,270 - 9,689,106 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554609,678,270 - 9,689,106 (+)NCBIChiLan1.0ChiLan1.0
NUDT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v267,207,982 - 7,217,192 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1755,532,679 - 55,541,894 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v072,511,573 - 2,520,643 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.172,613,207 - 2,622,141 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl72,614,005 - 2,621,997 (+)Ensemblpanpan1.1panPan2
NUDT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1614,874,459 - 14,881,517 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl614,859,518 - 14,882,704 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha616,336,737 - 16,343,817 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0615,000,839 - 15,007,880 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1614,804,097 - 14,811,136 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0614,731,016 - 14,738,104 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0615,018,707 - 15,025,800 (-)NCBIUU_Cfam_GSD_1.0
Nudt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344143,029,319 - 143,044,461 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049368237,099 - 18,677 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049368237,104 - 22,083 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NUDT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl31,566,915 - 1,576,234 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.131,567,417 - 1,575,801 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
NUDT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12819,332,014 - 19,340,538 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2819,327,393 - 19,338,665 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660902,380,158 - 2,394,282 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nudt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474027,528,548 - 27,541,001 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474027,528,428 - 27,538,406 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NUDT1
16 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3(chr7:2109441-2412551)x1 copy number loss See cases [RCV000050962] Chr7:2109441..2412551 [GRCh38]
Chr7:2149076..2452186 [GRCh37]
Chr7:2115602..2418712 [NCBI36]
Chr7:7p22.3		 uncertain significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 copy number loss See cases [RCV000052249] Chr7:45130..5880375 [GRCh38]
Chr7:45130..5920006 [GRCh37]
Chr7:140213..5886532 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3 copy number gain See cases [RCV000053527] Chr7:45130..6270185 [GRCh38]
Chr7:45130..6309816 [GRCh37]
Chr7:140213..6276341 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] Chr7:54185..8274834 [GRCh38]
Chr7:54185..8314464 [GRCh37]
Chr7:149268..8280989 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1 copy number loss See cases [RCV000136789] Chr7:54185..3324143 [GRCh38]
Chr7:54185..3363775 [GRCh37]
Chr7:149268..3330301 [NCBI36]
Chr7:7p22.3-22.2		 pathogenic
GRCh38/hg38 7p22.3(chr7:1330987-2530644)x1 copy number loss See cases [RCV000136673] Chr7:1330987..2530644 [GRCh38]
Chr7:1370623..2570278 [GRCh37]
Chr7:1337149..2536804 [NCBI36]
Chr7:7p22.3		 uncertain significance
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 copy number gain See cases [RCV000136731] Chr7:54185..6638027 [GRCh38]
Chr7:54185..6677658 [GRCh37]
Chr7:149268..6644183 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 copy number gain See cases [RCV000137524] Chr7:45130..7252065 [GRCh38]
Chr7:45130..7291696 [GRCh37]
Chr7:140213..7258221 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3(chr7:1085248-2530644)x4 copy number gain See cases [RCV000137818] Chr7:1085248..2530644 [GRCh38]
Chr7:1124884..2570278 [GRCh37]
Chr7:1091410..2536804 [NCBI36]
Chr7:7p22.3		 uncertain significance
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1 copy number loss See cases [RCV000142995] Chr7:54165..3258775 [GRCh38]
Chr7:54165..3298407 [GRCh37]
Chr7:149248..3264933 [NCBI36]
Chr7:7p22.3-22.2		 pathogenic
GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3 copy number gain See cases [RCV000143175] Chr7:45130..3406236 [GRCh38]
Chr7:45130..3445868 [GRCh37]
Chr7:140213..3412394 [NCBI36]
Chr7:7p22.3-22.2		 uncertain significance
GRCh38/hg38 7p22.3(chr7:2031462-2653470)x3 copy number gain See cases [RCV000143263] Chr7:2031462..2653470 [GRCh38]
Chr7:2071097..2693104 [GRCh37]
Chr7:2037623..2659630 [NCBI36]
Chr7:7p22.3		 likely benign|uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:1004794-4063934)x4 copy number gain See cases [RCV000240233] Chr7:1004794..4063934 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
GRCh37/hg19 7p22.3-22.1(chr7:43360-5443709)x3 copy number gain See cases [RCV000449281] Chr7:43360..5443709 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3(chr7:1834118-2430156)x3 copy number gain See cases [RCV000446997] Chr7:1834118..2430156 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-22.2(chr7:43360-2825753)x3 copy number gain See cases [RCV000447222] Chr7:43360..2825753 [GRCh37]
Chr7:7p22.3-22.2		 likely pathogenic
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3		 pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:43360-3642604)x1 copy number loss See cases [RCV000511648] Chr7:43360..3642604 [GRCh37]
Chr7:7p22.3-22.2		 pathogenic
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-22.1(chr7:1201674-5175651)x1 copy number loss See cases [RCV000512351] Chr7:1201674..5175651 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3(chr7:2126598-2329197)x3 copy number gain not provided [RCV000585320] Chr7:2126598..2329197 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:2219184-2612472)x1 copy number loss not provided [RCV000682839] Chr7:2219184..2612472 [GRCh37]
Chr7:7p22.3		 likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3(chr7:2268970-2600076)x3 copy number gain not provided [RCV000746334] Chr7:2268970..2600076 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3(chr7:2214169-2380156)x1 copy number loss not provided [RCV000847251] Chr7:2214169..2380156 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:36616-4298168)x1 copy number loss not provided [RCV000849273] Chr7:36616..4298168 [GRCh37]
Chr7:7p22.3-22.2		 pathogenic
NM_002452.4(NUDT1):c.88G>A (p.Gly30Ser) single nucleotide variant not specified [RCV004286300] Chr7:2244662 [GRCh38]
Chr7:2284297 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_002452.4(NUDT1):c.107G>T (p.Gly36Val) single nucleotide variant not specified [RCV004281588] Chr7:2244681 [GRCh38]
Chr7:2284316 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3 copy number gain not provided [RCV001005891] Chr7:1648373..10627513 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3(chr7:2155103-2629996)x3 copy number gain not provided [RCV001259993] Chr7:2155103..2629996 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:2169252-2577781)x3 copy number gain not provided [RCV001259994] Chr7:2169252..2577781 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:2082065-2669221)x3 copy number gain not provided [RCV001259998] Chr7:2082065..2669221 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_002452.4(NUDT1):c.85G>A (p.Ala29Thr) single nucleotide variant not specified [RCV004293051] Chr7:2244659 [GRCh38]
Chr7:2284294 [GRCh37]
Chr7:7p22.3		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3(chr7:1871564-2430156)x3 copy number gain not provided [RCV001827633] Chr7:1871564..2430156 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3 copy number gain See cases [RCV002292426] Chr7:43360..9649794 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3 copy number gain See cases [RCV002287567] Chr7:43360..19485604 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.3(chr7:2262524-2433729)x3 copy number gain not provided [RCV002473683] Chr7:2262524..2433729 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_002452.4(NUDT1):c.269G>A (p.Ser90Asn) single nucleotide variant not specified [RCV004159130] Chr7:2249973 [GRCh38]
Chr7:2289608 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_002452.4(NUDT1):c.207G>C (p.Gln69His) single nucleotide variant not specified [RCV004114916] Chr7:2249911 [GRCh38]
Chr7:2289546 [GRCh37]
Chr7:7p22.3		 likely benign
NM_002452.4(NUDT1):c.443A>G (p.Tyr148Cys) single nucleotide variant not specified [RCV004227266] Chr7:2250973 [GRCh38]
Chr7:2290608 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_002452.4(NUDT1):c.229G>A (p.Glu77Lys) single nucleotide variant not specified [RCV004232288] Chr7:2249933 [GRCh38]
Chr7:2289568 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_002452.4(NUDT1):c.263C>T (p.Thr88Ile) single nucleotide variant not specified [RCV004210375] Chr7:2249967 [GRCh38]
Chr7:2289602 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_002452.4(NUDT1):c.286G>A (p.Val96Met) single nucleotide variant not specified [RCV004082541] Chr7:2249990 [GRCh38]
Chr7:2289625 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_002452.4(NUDT1):c.82G>A (p.Gly28Arg) single nucleotide variant not specified [RCV004090380] Chr7:2244656 [GRCh38]
Chr7:2284291 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_002452.4(NUDT1):c.451C>T (p.Arg151Cys) single nucleotide variant not specified [RCV004338280] Chr7:2250981 [GRCh38]
Chr7:2290616 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:2275328-2408829)x3 copy number gain not provided [RCV003484670] Chr7:2275328..2408829 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3 copy number gain not provided [RCV003484666] Chr7:43361..5965440 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
GRCh37/hg19 7p22.3(chr7:2163436-2610093)x3 copy number gain not provided [RCV003484669] Chr7:2163436..2610093 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3 copy number gain not provided [RCV003484665] Chr7:43361..8890475 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_002452.4(NUDT1):c.285C>T (p.Pro95=) single nucleotide variant not provided [RCV003433717] Chr7:2249989 [GRCh38]
Chr7:2289624 [GRCh37]
Chr7:7p22.3		 likely benign
GRCh37/hg19 7p22.3-22.2(chr7:2088540-3127784)x3 copy number gain not specified [RCV003986692] Chr7:2088540..3127784 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
GRCh37/hg19 7p22.3-22.2(chr7:2163435-2987198)x3 copy number gain not specified [RCV003986709] Chr7:2163435..2987198 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
NM_002452.4(NUDT1):c.50G>A (p.Arg17Gln) single nucleotide variant not specified [RCV004496149] Chr7:2244624 [GRCh38]
Chr7:2284259 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_002452.4(NUDT1):c.223G>A (p.Val75Met) single nucleotide variant not specified [RCV004496147] Chr7:2249927 [GRCh38]
Chr7:2289562 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_002452.4(NUDT1):c.400C>A (p.His134Asn) single nucleotide variant not specified [RCV004652627] Chr7:2250930 [GRCh38]
Chr7:2290565 [GRCh37]
Chr7:7p22.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2649
Count of miRNA genes:634
Interacting mature miRNAs:733
Transcripts:ENST00000339737, ENST00000343985, ENST00000356714, ENST00000397046, ENST00000397048, ENST00000397049, ENST00000454650, ENST00000471348, ENST00000487426
Prediction methods:Microtar, Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1643402BMD2_HBone mineral density QTL 2 (human)2.690.0002Bone mineral density7122435431Human
1643247BW130_HBody Weight QTL 130 (human)1.280.008Body weightbody mass index7117453493Human
1643391BW322_HBody weight QTL 322 (human)2.690.0002Body fat amount7122435431Human

Markers in Region
RH80750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3772,290,626 - 2,290,759UniSTSGRCh37
Build 3672,257,152 - 2,257,285RGDNCBI36
Celera72,260,317 - 2,260,450RGD
Cytogenetic Map7p22UniSTS
HuRef72,209,908 - 2,210,041UniSTS
CRA_TCAGchr7v272,339,301 - 2,339,434UniSTS
MTH1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3772,290,516 - 2,290,711UniSTSGRCh37
Build 3672,257,042 - 2,257,237RGDNCBI36
Celera72,260,207 - 2,260,402RGD
Cytogenetic Map7p22UniSTS
HuRef72,209,798 - 2,209,993UniSTS
CRA_TCAGchr7v272,339,191 - 2,339,386UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2247 4958 1723 2348 5 622 1950 465 2269 7292 6461 52 3722 850 1739 1613 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001367553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB025233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB025234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB025235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB025236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB025237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB025238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB025239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB025240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB025241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB025242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM927392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR407655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D16581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D38594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ230907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000339737   ⟹   ENSP00000343439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,242,905 - 2,251,145 (+)Ensembl
Ensembl Acc Id: ENST00000343985   ⟹   ENSP00000339503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,242,905 - 2,251,145 (+)Ensembl
Ensembl Acc Id: ENST00000356714   ⟹   ENSP00000349148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,242,226 - 2,251,145 (+)Ensembl
Ensembl Acc Id: ENST00000397046   ⟹   ENSP00000380239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,242,259 - 2,251,145 (+)Ensembl
Ensembl Acc Id: ENST00000397048   ⟹   ENSP00000380241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,242,261 - 2,251,145 (+)Ensembl
Ensembl Acc Id: ENST00000397049   ⟹   ENSP00000380242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,244,476 - 2,251,145 (+)Ensembl
Ensembl Acc Id: ENST00000454650   ⟹   ENSP00000405334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,242,277 - 2,244,685 (+)Ensembl
Ensembl Acc Id: ENST00000471348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,244,609 - 2,248,169 (+)Ensembl
Ensembl Acc Id: ENST00000487426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,249,285 - 2,251,146 (+)Ensembl
RefSeq Acc Id: NM_001367553   ⟹   NP_001354482
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,242,226 - 2,251,145 (+)NCBI
T2T-CHM13v2.072,355,644 - 2,364,561 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367554   ⟹   NP_001354483
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,242,226 - 2,251,145 (+)NCBI
T2T-CHM13v2.072,355,644 - 2,364,561 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367555   ⟹   NP_001354484
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,242,226 - 2,251,145 (+)NCBI
T2T-CHM13v2.072,355,644 - 2,364,561 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002452   ⟹   NP_002443
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,242,226 - 2,251,145 (+)NCBI
GRCh3772,281,857 - 2,290,780 (+)ENTREZGENE
Build 3672,248,383 - 2,257,306 (+)NCBI Archive
HuRef72,201,140 - 2,210,062 (+)ENTREZGENE
CHM1_172,281,464 - 2,290,386 (+)NCBI
T2T-CHM13v2.072,355,644 - 2,364,561 (+)NCBI
CRA_TCAGchr7v272,330,533 - 2,339,455 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_198948   ⟹   NP_945186
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,242,226 - 2,251,145 (+)NCBI
GRCh3772,281,857 - 2,290,780 (+)ENTREZGENE
Build 3672,248,383 - 2,257,306 (+)NCBI Archive
HuRef72,201,140 - 2,210,062 (+)ENTREZGENE
CHM1_172,281,464 - 2,290,386 (+)NCBI
T2T-CHM13v2.072,355,644 - 2,364,561 (+)NCBI
CRA_TCAGchr7v272,330,533 - 2,339,455 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_198949   ⟹   NP_945187
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,242,226 - 2,251,145 (+)NCBI
GRCh3772,281,857 - 2,290,780 (+)ENTREZGENE
Build 3672,248,383 - 2,257,306 (+)NCBI Archive
HuRef72,201,140 - 2,210,062 (+)ENTREZGENE
CHM1_172,281,464 - 2,290,386 (+)NCBI
T2T-CHM13v2.072,355,644 - 2,364,561 (+)NCBI
CRA_TCAGchr7v272,330,533 - 2,339,455 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_198950   ⟹   NP_945188
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,242,226 - 2,251,145 (+)NCBI
GRCh3772,281,857 - 2,290,780 (+)ENTREZGENE
Build 3672,248,422 - 2,257,306 (+)NCBI Archive
HuRef72,201,140 - 2,210,062 (+)ENTREZGENE
CHM1_172,281,503 - 2,290,386 (+)NCBI
T2T-CHM13v2.072,355,644 - 2,364,561 (+)NCBI
CRA_TCAGchr7v272,330,533 - 2,339,455 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_198952   ⟹   NP_945190
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,242,226 - 2,251,145 (+)NCBI
GRCh3772,281,857 - 2,290,780 (+)ENTREZGENE
Build 3672,248,422 - 2,257,306 (+)NCBI Archive
HuRef72,201,140 - 2,210,062 (+)ENTREZGENE
CHM1_172,281,503 - 2,290,386 (+)NCBI
T2T-CHM13v2.072,355,644 - 2,364,561 (+)NCBI
CRA_TCAGchr7v272,330,533 - 2,339,455 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_198953   ⟹   NP_945191
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,242,905 - 2,251,145 (+)NCBI
GRCh3772,281,857 - 2,290,780 (+)ENTREZGENE
Build 3672,249,066 - 2,257,306 (+)NCBI Archive
HuRef72,201,140 - 2,210,062 (+)ENTREZGENE
CHM1_172,282,147 - 2,290,386 (+)NCBI
T2T-CHM13v2.072,356,323 - 2,364,561 (+)NCBI
CRA_TCAGchr7v272,330,533 - 2,339,455 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_198954   ⟹   NP_945192
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,242,905 - 2,251,145 (+)NCBI
GRCh3772,281,857 - 2,290,780 (+)ENTREZGENE
Build 3672,249,066 - 2,257,306 (+)NCBI Archive
HuRef72,201,140 - 2,210,062 (+)ENTREZGENE
CHM1_172,282,147 - 2,290,386 (+)NCBI
T2T-CHM13v2.072,356,323 - 2,364,561 (+)NCBI
CRA_TCAGchr7v272,330,533 - 2,339,455 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NR_160264
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,249,311 - 2,251,145 (+)NCBI
T2T-CHM13v2.072,362,725 - 2,364,561 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001354482 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354483 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354484 (Get FASTA)   NCBI Sequence Viewer  
  NP_002443 (Get FASTA)   NCBI Sequence Viewer  
  NP_945186 (Get FASTA)   NCBI Sequence Viewer  
  NP_945187 (Get FASTA)   NCBI Sequence Viewer  
  NP_945188 (Get FASTA)   NCBI Sequence Viewer  
  NP_945190 (Get FASTA)   NCBI Sequence Viewer  
  NP_945191 (Get FASTA)   NCBI Sequence Viewer  
  NP_945192 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH14618 (Get FASTA)   NCBI Sequence Viewer  
  AAH40144 (Get FASTA)   NCBI Sequence Viewer  
  AAH51375 (Get FASTA)   NCBI Sequence Viewer  
  AAH65367 (Get FASTA)   NCBI Sequence Viewer  
  ABB02181 (Get FASTA)   NCBI Sequence Viewer  
  BAA04013 (Get FASTA)   NCBI Sequence Viewer  
  BAA07601 (Get FASTA)   NCBI Sequence Viewer  
  BAA83791 (Get FASTA)   NCBI Sequence Viewer  
  BAA83792 (Get FASTA)   NCBI Sequence Viewer  
  BAA83793 (Get FASTA)   NCBI Sequence Viewer  
  BAA83794 (Get FASTA)   NCBI Sequence Viewer  
  BAA83795 (Get FASTA)   NCBI Sequence Viewer  
  BAA83796 (Get FASTA)   NCBI Sequence Viewer  
  BAA83797 (Get FASTA)   NCBI Sequence Viewer  
  BAA83798 (Get FASTA)   NCBI Sequence Viewer  
  BAA83799 (Get FASTA)   NCBI Sequence Viewer  
  BAA83800 (Get FASTA)   NCBI Sequence Viewer  
  CAG28583 (Get FASTA)   NCBI Sequence Viewer  
  EAL23948 (Get FASTA)   NCBI Sequence Viewer  
  EAL23949 (Get FASTA)   NCBI Sequence Viewer  
  EAW87225 (Get FASTA)   NCBI Sequence Viewer  
  EAW87226 (Get FASTA)   NCBI Sequence Viewer  
  EAW87227 (Get FASTA)   NCBI Sequence Viewer  
  EAW87228 (Get FASTA)   NCBI Sequence Viewer  
  EAW87229 (Get FASTA)   NCBI Sequence Viewer  
  EAW87230 (Get FASTA)   NCBI Sequence Viewer  
  EAW87231 (Get FASTA)   NCBI Sequence Viewer  
  EAW87232 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000339503
  ENSP00000339503.4
  ENSP00000343439
  ENSP00000343439.2
  ENSP00000349148
  ENSP00000349148.1
  ENSP00000380239
  ENSP00000380239.1
  ENSP00000380241
  ENSP00000380241.1
  ENSP00000380242.2
  ENSP00000405334.1
GenBank Protein P36639 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_945187   ⟸   NM_198949
- Peptide Label: isoform p22
- Sequence:
RefSeq Acc Id: NP_945186   ⟸   NM_198948
- Peptide Label: isoform p18
- UniProtKB: Q9UBM0 (UniProtKB/Swiss-Prot),   Q8IV95 (UniProtKB/Swiss-Prot),   Q7Z7N6 (UniProtKB/Swiss-Prot),   Q6P0Y6 (UniProtKB/Swiss-Prot),   Q6LES7 (UniProtKB/Swiss-Prot),   A4D205 (UniProtKB/Swiss-Prot),   Q9UBM9 (UniProtKB/Swiss-Prot),   P36639 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002443   ⟸   NM_002452
- Peptide Label: isoform p18
- UniProtKB: Q9UBM0 (UniProtKB/Swiss-Prot),   Q8IV95 (UniProtKB/Swiss-Prot),   Q7Z7N6 (UniProtKB/Swiss-Prot),   Q6P0Y6 (UniProtKB/Swiss-Prot),   Q6LES7 (UniProtKB/Swiss-Prot),   A4D205 (UniProtKB/Swiss-Prot),   Q9UBM9 (UniProtKB/Swiss-Prot),   P36639 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_945190   ⟸   NM_198952
- Peptide Label: isoform p22
- Sequence:
RefSeq Acc Id: NP_945188   ⟸   NM_198950
- Peptide Label: isoform p18
- UniProtKB: Q9UBM0 (UniProtKB/Swiss-Prot),   Q8IV95 (UniProtKB/Swiss-Prot),   Q7Z7N6 (UniProtKB/Swiss-Prot),   Q6P0Y6 (UniProtKB/Swiss-Prot),   Q6LES7 (UniProtKB/Swiss-Prot),   A4D205 (UniProtKB/Swiss-Prot),   Q9UBM9 (UniProtKB/Swiss-Prot),   P36639 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_945192   ⟸   NM_198954
- Peptide Label: isoform p22
- Sequence:
RefSeq Acc Id: NP_945191   ⟸   NM_198953
- Peptide Label: isoform p18
- UniProtKB: Q9UBM0 (UniProtKB/Swiss-Prot),   Q8IV95 (UniProtKB/Swiss-Prot),   Q7Z7N6 (UniProtKB/Swiss-Prot),   Q6P0Y6 (UniProtKB/Swiss-Prot),   Q6LES7 (UniProtKB/Swiss-Prot),   A4D205 (UniProtKB/Swiss-Prot),   Q9UBM9 (UniProtKB/Swiss-Prot),   P36639 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001354483   ⟸   NM_001367554
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001354482   ⟸   NM_001367553
- Peptide Label: isoform p18
- UniProtKB: Q9UBM0 (UniProtKB/Swiss-Prot),   Q8IV95 (UniProtKB/Swiss-Prot),   Q7Z7N6 (UniProtKB/Swiss-Prot),   Q6P0Y6 (UniProtKB/Swiss-Prot),   Q6LES7 (UniProtKB/Swiss-Prot),   P36639 (UniProtKB/Swiss-Prot),   A4D205 (UniProtKB/Swiss-Prot),   Q9UBM9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001354484   ⟸   NM_001367555
- Peptide Label: isoform 3
Ensembl Acc Id: ENSP00000405334   ⟸   ENST00000454650
Ensembl Acc Id: ENSP00000343439   ⟸   ENST00000339737
Ensembl Acc Id: ENSP00000349148   ⟸   ENST00000356714
Ensembl Acc Id: ENSP00000339503   ⟸   ENST00000343985
Ensembl Acc Id: ENSP00000380242   ⟸   ENST00000397049
Ensembl Acc Id: ENSP00000380241   ⟸   ENST00000397048
Ensembl Acc Id: ENSP00000380239   ⟸   ENST00000397046
Protein Domains
Nudix hydrolase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P36639-F1-model_v2 AlphaFold P36639 1-156 view protein structure

Promoters
RGD ID:7209807
Promoter ID:EPDNEW_H10649
Type:multiple initiation site
Name:NUDT1_3
Description:nudix hydrolase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10651  EPDNEW_H10652  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,242,121 - 2,242,181EPDNEW
RGD ID:7209811
Promoter ID:EPDNEW_H10651
Type:initiation region
Name:NUDT1_1
Description:nudix hydrolase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10649  EPDNEW_H10652  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,242,226 - 2,242,286EPDNEW
RGD ID:7209813
Promoter ID:EPDNEW_H10652
Type:initiation region
Name:NUDT1_2
Description:nudix hydrolase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10649  EPDNEW_H10651  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,244,550 - 2,244,610EPDNEW
RGD ID:6805671
Promoter ID:HG_KWN:56020
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000397046,   NM_002452,   NM_013393,   NM_198948,   NM_198949,   NM_198952,   NM_198953,   NM_198954,   OTTHUMT00000206921,   OTTHUMT00000322946,   UC003SLK.1,   UC003SLN.1,   UC003SLO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3672,248,296 - 2,249,367 (-)MPROMDB
RGD ID:6805973
Promoter ID:HG_KWN:56021
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000322948
Position:
Human AssemblyChrPosition (strand)Source
Build 3672,250,116 - 2,251,017 (+)MPROMDB
RGD ID:6805974
Promoter ID:HG_KWN:56022
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000322947
Position:
Human AssemblyChrPosition (strand)Source
Build 3672,254,486 - 2,255,887 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8048 AgrOrtholog
COSMIC NUDT1 COSMIC
Ensembl Genes ENSG00000106268 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000339737 ENTREZGENE
  ENST00000339737.6 UniProtKB/Swiss-Prot
  ENST00000343985 ENTREZGENE
  ENST00000343985.8 UniProtKB/Swiss-Prot
  ENST00000356714 ENTREZGENE
  ENST00000356714.6 UniProtKB/Swiss-Prot
  ENST00000397046 ENTREZGENE
  ENST00000397046.5 UniProtKB/Swiss-Prot
  ENST00000397048 ENTREZGENE
  ENST00000397048.5 UniProtKB/Swiss-Prot
  ENST00000397049.2 UniProtKB/Swiss-Prot
  ENST00000454650.1 UniProtKB/TrEMBL
  ENST00000487426 ENTREZGENE
Gene3D-CATH Nucleoside Triphosphate Pyrophosphohydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000106268 GTEx
HGNC ID HGNC:8048 ENTREZGENE
Human Proteome Map NUDT1 Human Proteome Map
InterPro Nudix_hydrolase UniProtKB/Swiss-Prot
  NUDIX_hydrolase-like_dom_sf UniProtKB/Swiss-Prot
  NUDIX_hydrolase_CS UniProtKB/Swiss-Prot
  NUDIX_hydrolase_dom UniProtKB/Swiss-Prot
  OxG-triPHTase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4521 UniProtKB/Swiss-Prot
NCBI Gene 4521 ENTREZGENE
OMIM 600312 OMIM
PANTHER 7,8-DIHYDRO-8-OXOGUANINE TRIPHOSPHATASE UniProtKB/Swiss-Prot
  7,8-DIHYDRO-8-OXOGUANINE TRIPHOSPHATASE UniProtKB/Swiss-Prot
  7,8-DIHYDRO-8-OXOGUANINE TRIPHOSPHATASE UniProtKB/TrEMBL
  7,8-DIHYDRO-8-OXOGUANINE TRIPHOSPHATASE UniProtKB/TrEMBL
Pfam NUDIX UniProtKB/Swiss-Prot
PharmGKB PA31830 PharmGKB
PRINTS 8OXTPHPHTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUDIXFAMILY UniProtKB/Swiss-Prot
PROSITE NUDIX UniProtKB/Swiss-Prot
  NUDIX_BOX UniProtKB/Swiss-Prot
Superfamily-SCOP SSF55811 UniProtKB/Swiss-Prot
UniProt 8ODP_HUMAN UniProtKB/Swiss-Prot
  A4D205 ENTREZGENE
  C9J361_HUMAN UniProtKB/TrEMBL
  P36639 ENTREZGENE
  Q6LES7 ENTREZGENE
  Q6P0Y6 ENTREZGENE
  Q7Z7N6 ENTREZGENE
  Q8IV95 ENTREZGENE
  Q9UBM0 ENTREZGENE
  Q9UBM9 ENTREZGENE
UniProt Secondary A4D205 UniProtKB/Swiss-Prot
  Q6LES7 UniProtKB/Swiss-Prot
  Q6P0Y6 UniProtKB/Swiss-Prot
  Q7Z7N6 UniProtKB/Swiss-Prot
  Q8IV95 UniProtKB/Swiss-Prot
  Q9UBM0 UniProtKB/Swiss-Prot
  Q9UBM9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 NUDT1  nudix hydrolase 1  NUDT1  nudix (nucleoside diphosphate linked moiety X)-type motif 1  Symbol and/or name change 5135510 APPROVED