NUDT18 (nudix hydrolase 18) - Rat Genome Database

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Gene: NUDT18 (nudix hydrolase 18) Homo sapiens
Analyze
Symbol: NUDT18
Name: nudix hydrolase 18
RGD ID: 1605623
HGNC Page HGNC
Description: Enables magnesium ion binding activity and nucleoside-diphosphatase activity. Involved in GDP catabolic process; dADP catabolic process; and dGDP catabolic process. Predicted to be located in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 2-hydroxy-dADP phosphatase; 7,8-dihydro-8-oxoguanine phosphatase; 8-oxo-dGDP phosphatase NUDT18; FLJ22494; MTH3; mutT homolog 3; mutT human homolog 3; nucleoside diphosphate-linked moiety X motif 18; nudix (nucleoside diphosphate linked moiety X)-type motif 18; nudix motif 18
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 Ensembl822,106,874 - 22,109,419 (-)EnsemblGRCh38hg38GRCh38
GRCh38822,106,872 - 22,110,355 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37821,964,389 - 21,966,932 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36822,020,328 - 22,022,877 (-)NCBINCBI36hg18NCBI36
Celera820,926,679 - 20,929,248 (-)NCBI
Cytogenetic Map8p21.3NCBI
HuRef820,506,929 - 20,509,498 (-)NCBIHuRef
CHM1_1822,166,045 - 22,168,614 (-)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

Biological Process

Cellular Component
cytosol  (TAS)

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:16189514   PMID:16344560   PMID:16713569   PMID:17207965   PMID:19060904   PMID:21044950   PMID:21873635   PMID:22458338   PMID:22556419   PMID:26496610   PMID:31515488  


Genomics

Comparative Map Data
NUDT18
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl822,106,874 - 22,109,419 (-)EnsemblGRCh38hg38GRCh38
GRCh38822,106,872 - 22,110,355 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37821,964,389 - 21,966,932 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36822,020,328 - 22,022,877 (-)NCBINCBI36hg18NCBI36
Celera820,926,679 - 20,929,248 (-)NCBI
Cytogenetic Map8p21.3NCBI
HuRef820,506,929 - 20,509,498 (-)NCBIHuRef
CHM1_1822,166,045 - 22,168,614 (-)NCBICHM1_1
Nudt18
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391470,815,264 - 70,820,128 (+)NCBIGRCm39mm39
GRCm39 Ensembl1470,815,077 - 70,820,128 (+)Ensembl
GRCm381470,577,824 - 70,582,688 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1470,577,637 - 70,582,688 (+)EnsemblGRCm38mm10GRCm38
MGSCv371470,977,654 - 70,982,378 (+)NCBIGRCm37mm9NCBIm37
MGSCv361469,312,927 - 69,317,651 (+)NCBImm8
Celera1468,119,373 - 68,124,096 (+)NCBICelera
Cytogenetic Map14D2NCBI
Nudt18
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21545,650,597 - 45,653,985 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1545,650,664 - 45,653,963 (+)Ensembl
Rnor_6.01552,265,557 - 52,268,081 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1552,265,557 - 52,268,079 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01555,989,074 - 55,991,598 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41550,977,124 - 50,979,648 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11550,992,839 - 50,996,120 (+)NCBI
Celera1545,328,967 - 45,331,491 (+)NCBICelera
Cytogenetic Map15p11NCBI
Nudt18
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495540345,598,813 - 45,601,940 (-)NCBIChiLan1.0ChiLan1.0
NUDT18
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1818,293,555 - 18,299,540 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl818,293,555 - 18,297,078 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0821,351,840 - 21,356,915 (-)NCBIMhudiblu_PPA_v0panPan3
NUDT18
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12535,139,580 - 35,144,066 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2535,140,969 - 35,143,063 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2535,729,138 - 35,733,637 (+)NCBI
ROS_Cfam_1.02535,351,117 - 35,355,601 (+)NCBI
UMICH_Zoey_3.12535,296,344 - 35,300,845 (+)NCBI
UNSW_CanFamBas_1.02535,150,896 - 35,155,376 (+)NCBI
UU_Cfam_GSD_1.02535,306,384 - 35,310,868 (+)NCBI
Nudt18
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494312,638,163 - 12,641,252 (+)NCBI
SpeTri2.0NW_0049365555,929,262 - 5,932,334 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NUDT18
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl146,377,815 - 6,381,596 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1146,378,987 - 6,381,712 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2146,814,635 - 6,817,363 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NUDT18
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1820,176,500 - 20,184,637 (-)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605222,057,257 - 22,060,315 (+)NCBIVero_WHO_p1.0
Nudt18
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475817,691,790 - 17,695,027 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D8S322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37821,968,716 - 21,968,949UniSTSGRCh37
Build 36822,024,661 - 22,024,894RGDNCBI36
Celera820,931,031 - 20,931,254RGD
Cytogenetic Map8p21.3UniSTS
HuRef820,511,282 - 20,511,505UniSTS
Marshfield Genetic Map841.55UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1690
Count of miRNA genes:669
Interacting mature miRNAs:780
Transcripts:ENST00000309188, ENST00000521807, ENST00000522379, ENST00000522405
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 441 1028 930 105 1149 15 1698 104 1549 58 684 1048 101 521 1028 1
Low 1908 1947 554 328 622 260 2572 2033 2112 124 576 415 69 683 1714 3
Below cutoff 9 2 48 55 3 46

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000611621   ⟹   ENSP00000480722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl822,106,878 - 22,109,419 (-)Ensembl
RefSeq Acc Id: ENST00000613958   ⟹   ENSP00000479883
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl822,106,874 - 22,109,419 (-)Ensembl
RefSeq Acc Id: NM_024815   ⟹   NP_079091
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,106,878 - 22,109,419 (-)NCBI
GRCh37821,964,383 - 21,966,932 (-)RGD
Build 36822,020,328 - 22,022,877 (-)NCBI Archive
Celera820,926,679 - 20,929,248 (-)RGD
HuRef820,506,929 - 20,509,498 (-)RGD
CHM1_1822,166,045 - 22,168,614 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544650   ⟹   XP_011542952
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,106,872 - 22,110,355 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_079091   ⟸   NM_024815
- UniProtKB: Q6ZVK8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542952   ⟸   XM_011544650
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000480722   ⟸   ENST00000611621
RefSeq Acc Id: ENSP00000479883   ⟸   ENST00000613958
Protein Domains
Nudix hydrolase

Promoters
RGD ID:6806907
Promoter ID:HG_KWN:60873
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:ENST00000309188,   NM_024815,   UC003XAQ.1,   UC003XAR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36822,022,621 - 22,023,121 (-)MPROMDB
RGD ID:7212775
Promoter ID:EPDNEW_H12133
Type:initiation region
Name:NUDT18_1
Description:nudix hydrolase 18
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
GRCh38822,109,419 - 22,109,479EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3 copy number gain See cases [RCV000053636] Chr8:21654619..23001935 [GRCh38]
Chr8:21512131..22859448 [GRCh37]
Chr8:21556411..22915393 [NCBI36]
Chr8:8p21.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p21.3(chr8:21482945-22853239)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]|See cases [RCV000054236] Chr8:21482945..22853239 [GRCh38]
Chr8:21340456..22710752 [GRCh37]
Chr8:21384736..22766697 [NCBI36]
Chr8:8p21.3
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3
pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
pathogenic
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autistic disorder of childhood onset [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) copy number loss See cases [RCV000447428] Chr8:13091530..24483615 [GRCh37]
Chr8:8p22-21.2
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p21.3(chr8:21521340-22492009)x4 copy number gain See cases [RCV000510404] Chr8:21521340..22492009 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1 copy number loss not provided [RCV000849161] Chr8:21662847..24199218 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
GRCh37/hg19 8p21.3(chr8:21717395-22395625)x3 copy number gain not provided [RCV000846113] Chr8:21717395..22395625 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p21.3(chr8:20564910-22629124)x3 copy number gain not provided [RCV000847279] Chr8:20564910..22629124 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p21.3(chr8:21840451-22037635)x3 copy number gain not provided [RCV000846785] Chr8:21840451..22037635 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p21.3(chr8:21077580-22144930)x1 copy number loss not provided [RCV000846265] Chr8:21077580..22144930 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormality of the fetal cardiovascular system [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26194 AgrOrtholog
COSMIC NUDT18 COSMIC
Ensembl Genes ENSG00000275074 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000479883 UniProtKB/TrEMBL
  ENSP00000480722 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000611621 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000613958 UniProtKB/TrEMBL
GTEx ENSG00000275074 GTEx
HGNC ID HGNC:26194 ENTREZGENE
Human Proteome Map NUDT18 Human Proteome Map
InterPro Nudix_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUDIX_hydrolase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUDIX_hydrolase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUDIX_hydrolase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUDT18_NUDIX UniProtKB/Swiss-Prot
KEGG Report hsa:79873 UniProtKB/Swiss-Prot
NCBI Gene 79873 ENTREZGENE
OMIM 615791 OMIM
Pfam NUDIX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671238 PharmGKB
PRINTS NUDIXFAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NUDIX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUDIX_BOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55811 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WW30_HUMAN UniProtKB/TrEMBL
  NUD18_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q8IZ75 UniProtKB/Swiss-Prot
  Q9H687 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 NUDT18  nudix hydrolase 18    nudix (nucleoside diphosphate linked moiety X)-type motif 18  Symbol and/or name change 5135510 APPROVED
2012-10-02 NUDT18  nudix (nucleoside diphosphate linked moiety X)-type motif 18  NUDT18  nudix (nucleoside diphosphate linked moiety X)-type motif 18  Symbol and/or name change 5135510 APPROVED