NUP210 (nucleoporin 210) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: NUP210 (nucleoporin 210) Homo sapiens
Analyze
Symbol: NUP210
Name: nucleoporin 210
RGD ID: 1346505
HGNC Page HGNC:30052
Description: Predicted to be involved in nucleocytoplasmic transport. Located in membrane. Part of nuclear envelope.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ22389; GP210; KIAA0906; nuclear envelope pore membrane protein POM 210; nuclear pore membrane glycoprotein 210; nuclear pore protein gp210; nucleoporin 210kDa; nucleoporin Nup210; POM210; pore membrane protein of 210 kDa
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: NUP210P1   NUP210P2   NUP210P3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38313,316,235 - 13,420,322 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl313,316,235 - 13,420,322 (-)EnsemblGRCh38hg38GRCh38
GRCh37313,357,735 - 13,461,822 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36313,332,737 - 13,436,809 (-)NCBINCBI36Build 36hg18NCBI36
Build 34313,332,736 - 13,436,809NCBI
Celera313,295,991 - 13,400,071 (-)NCBICelera
Cytogenetic Map3p25.1NCBI
HuRef313,291,073 - 13,394,965 (-)NCBIHuRef
CHM1_1313,307,763 - 13,411,847 (-)NCBICHM1_1
T2T-CHM13v2.0313,316,581 - 13,420,679 (-)NCBIT2T-CHM13v2.0
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
(+)-catechin  (EXP)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxynon-2-enal  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aminoglutethimide  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
clofibric acid  (ISO)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
Enterolactone  (EXP)
fenthion  (ISO)
fipronil  (ISO)
folic acid  (ISO)
FR900359  (EXP)
furan  (ISO)
gentamycin  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
indinavir  (ISO)
ivermectin  (EXP)
lamivudine  (ISO)
lead diacetate  (EXP)
manganese(II) chloride  (ISO)
methapyrilene  (EXP)
methidathion  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
saquinavir  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
temozolomide  (EXP)
thapsigargin  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zidovudine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2184032   PMID:2195063   PMID:7504063   PMID:8125298   PMID:8672508   PMID:10048485   PMID:10469352   PMID:10546895   PMID:10601273   PMID:11782456   PMID:12228227   PMID:12477932  
PMID:12653556   PMID:14517331   PMID:14702039   PMID:15231747   PMID:15489334   PMID:15613247   PMID:15710222   PMID:16303743   PMID:16337775   PMID:16565220   PMID:16641997   PMID:16702234  
PMID:19738201   PMID:19851296   PMID:19946888   PMID:20198315   PMID:20379614   PMID:21873635   PMID:22199357   PMID:22268729   PMID:22586326   PMID:22623428   PMID:22939629   PMID:23097496  
PMID:23798571   PMID:24315095   PMID:24457600   PMID:24639526   PMID:24711643   PMID:24981860   PMID:24999758   PMID:25437307   PMID:25921289   PMID:26344197   PMID:26496610   PMID:26618866  
PMID:26638075   PMID:27016207   PMID:27025967   PMID:27320910   PMID:27342126   PMID:27375898   PMID:27634302   PMID:27637333   PMID:27880917   PMID:28192407   PMID:28514442   PMID:28611094  
PMID:28611215   PMID:28675297   PMID:28685749   PMID:29180619   PMID:29395067   PMID:29478914   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29845934   PMID:29961565   PMID:30021884  
PMID:30196744   PMID:30352685   PMID:30833792   PMID:30945288   PMID:30948266   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31180492   PMID:31256999   PMID:31300519   PMID:31306055  
PMID:31586073   PMID:31737133   PMID:31871319   PMID:32344865   PMID:32353859   PMID:32390360   PMID:32409323   PMID:32707033   PMID:32938586   PMID:32971831   PMID:33001583   PMID:33005030  
PMID:33060197   PMID:33239431   PMID:33239621   PMID:33536335   PMID:33545068   PMID:33766124   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34244565   PMID:34349018   PMID:34597346  
PMID:34709727   PMID:34901782   PMID:34903738   PMID:35007762   PMID:35159127   PMID:35253629   PMID:35271311   PMID:35384245   PMID:35413221   PMID:35439318   PMID:35563538   PMID:35696571  
PMID:35850772   PMID:35906200   PMID:35944360   PMID:36114006   PMID:36180527   PMID:36215168   PMID:36526897   PMID:36538041   PMID:36610398   PMID:37314216   PMID:37317656   PMID:37516964  
PMID:37768083   PMID:37827155   PMID:37929963  


Genomics

Comparative Map Data
NUP210
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38313,316,235 - 13,420,322 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl313,316,235 - 13,420,322 (-)EnsemblGRCh38hg38GRCh38
GRCh37313,357,735 - 13,461,822 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36313,332,737 - 13,436,809 (-)NCBINCBI36Build 36hg18NCBI36
Build 34313,332,736 - 13,436,809NCBI
Celera313,295,991 - 13,400,071 (-)NCBICelera
Cytogenetic Map3p25.1NCBI
HuRef313,291,073 - 13,394,965 (-)NCBIHuRef
CHM1_1313,307,763 - 13,411,847 (-)NCBICHM1_1
T2T-CHM13v2.0313,316,581 - 13,420,679 (-)NCBIT2T-CHM13v2.0
Nup210
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39690,990,049 - 91,095,920 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl690,990,050 - 91,093,811 (-)EnsemblGRCm39 Ensembl
GRCm38691,013,067 - 91,118,322 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl691,013,068 - 91,116,829 (-)EnsemblGRCm38mm10GRCm38
MGSCv37690,963,061 - 91,066,820 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36690,978,574 - 91,082,298 (-)NCBIMGSCv36mm8
Celera692,903,568 - 93,007,504 (-)NCBICelera
Cytogenetic Map6D1NCBI
cM Map640.3NCBI
Nup210
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84125,068,736 - 125,167,238 (-)NCBIGRCr8
mRatBN7.24123,511,558 - 123,609,874 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4123,511,559 - 123,609,874 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4128,979,110 - 129,077,044 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04124,753,553 - 124,851,493 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04123,378,139 - 123,476,053 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04122,643,952 - 122,741,322 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4122,644,135 - 122,741,110 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04187,804,454 - 187,901,638 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44125,189,612 - 125,285,493 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14125,434,092 - 125,529,974 (-)NCBI
Celera4112,435,032 - 112,530,305 (-)NCBICelera
Cytogenetic Map4q34NCBI
Nup210
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542912,961,665 - 13,043,214 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542912,907,943 - 13,041,819 (+)NCBIChiLan1.0ChiLan1.0
NUP210
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2213,295,371 - 13,399,169 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1313,300,137 - 13,403,931 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0313,236,064 - 13,339,807 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1313,580,317 - 13,663,589 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl313,581,763 - 13,664,011 (-)Ensemblpanpan1.1panPan2
NUP210
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1203,635,355 - 3,740,689 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl203,636,476 - 3,721,971 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha203,675,930 - 3,781,081 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0203,658,057 - 3,763,299 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1203,377,191 - 3,482,410 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0203,699,701 - 3,804,881 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0203,664,739 - 3,770,023 (-)NCBIUU_Cfam_GSD_1.0
Nup210
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494219,453,787 - 19,494,454 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936898201,392 - 237,699 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936898196,545 - 237,211 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NUP210
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1370,917,477 - 71,007,271 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11370,917,464 - 71,007,273 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21378,614,272 - 78,704,936 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NUP210
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12249,299,689 - 49,409,508 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041117,087,843 - 117,193,138 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nup210
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462479612,725,798 - 12,826,207 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462479612,725,808 - 12,825,793 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NUP210
188 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 copy number gain See cases [RCV000051690] Chr3:52066..20280127 [GRCh38]
Chr3:93749..20321619 [GRCh37]
Chr3:68749..20296623 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] Chr3:52266..29248782 [GRCh38]
Chr3:93949..29290273 [GRCh37]
Chr3:68949..29265277 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 copy number gain See cases [RCV000051719] Chr3:63843..19510600 [GRCh38]
Chr3:105526..19552092 [GRCh37]
Chr3:80526..19527096 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 copy number gain See cases [RCV000051720] Chr3:11463328..38919543 [GRCh38]
Chr3:11504802..38961034 [GRCh37]
Chr3:11479802..38936038 [NCBI36]
Chr3:3p25.3-22.2		 pathogenic
NM_024923.3(NUP210):c.2232C>T (p.Phe744=) single nucleotide variant Malignant melanoma [RCV000065844] Chr3:13358318 [GRCh38]
Chr3:13399818 [GRCh37]
Chr3:13374818 [NCBI36]
Chr3:3p25.1		 not provided
NM_024923.3(NUP210):c.1301G>A (p.Gly434Glu) single nucleotide variant Malignant melanoma [RCV000065845] Chr3:13375634 [GRCh38]
Chr3:13417134 [GRCh37]
Chr3:13392134 [NCBI36]
Chr3:3p25.1		 not provided
NM_024923.3(NUP210):c.4431C>T (p.Ala1477=) single nucleotide variant Malignant melanoma [RCV000060708] Chr3:13327293 [GRCh38]
Chr3:13368793 [GRCh37]
Chr3:13343793 [NCBI36]
Chr3:3p25.1		 not provided
GRCh38/hg38 3p25.1(chr3:13325295-13882924)x4 copy number gain See cases [RCV000137624] Chr3:13325295..13882924 [GRCh38]
Chr3:13366795..13924421 [GRCh37]
Chr3:13341795..13899422 [NCBI36]
Chr3:3p25.1		 uncertain significance
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 copy number gain See cases [RCV000137941] Chr3:32241..20334387 [GRCh38]
Chr3:73914..20375879 [GRCh37]
Chr3:48914..20350883 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3 copy number gain See cases [RCV000138946] Chr3:32241..13613818 [GRCh38]
Chr3:73914..13655318 [GRCh37]
Chr3:48914..13630319 [NCBI36]
Chr3:3p26.3-25.1		 pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1		 pathogenic
GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3 copy number gain See cases [RCV000143766] Chr3:7356110..14360442 [GRCh38]
Chr3:7397797..14401942 [GRCh37]
Chr3:7372797..14376946 [NCBI36]
Chr3:3p26.1-25.1		 pathogenic
GRCh37/hg19 3p25.2-25.1(chr3:13217581-13440100)x1 copy number loss See cases [RCV000449378] Chr3:13217581..13440100 [GRCh37]
Chr3:3p25.2-25.1		 uncertain significance
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 copy number gain See cases [RCV000447247] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
NM_024923.4(NUP210):c.1796C>T (p.Pro599Leu) single nucleotide variant not specified [RCV004296672] Chr3:13366082 [GRCh38]
Chr3:13407582 [GRCh37]
Chr3:3p25.1		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_024923.4(NUP210):c.16C>G (p.Arg6Gly) single nucleotide variant not specified [RCV004301699] Chr3:13420211 [GRCh38]
Chr3:13461711 [GRCh37]
Chr3:3p25.1		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_024923.4(NUP210):c.3746G>T (p.Gly1249Val) single nucleotide variant not specified [RCV004315261] Chr3:13335551 [GRCh38]
Chr3:13377051 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3736C>T (p.Arg1246Trp) single nucleotide variant not specified [RCV004318149] Chr3:13335561 [GRCh38]
Chr3:13377061 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1879G>A (p.Gly627Ser) single nucleotide variant not specified [RCV004292105] Chr3:13365999 [GRCh38]
Chr3:13407499 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3277G>A (p.Gly1093Arg) single nucleotide variant not specified [RCV004315266] Chr3:13340250 [GRCh38]
Chr3:13381750 [GRCh37]
Chr3:3p25.1		 uncertain significance
GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3 copy number gain not provided [RCV000682215] Chr3:1897972..19519085 [GRCh37]
Chr3:3p26.3-24.3		 pathogenic
GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3 copy number gain not provided [RCV000682233] Chr3:5173870..16760262 [GRCh37]
Chr3:3p26.1-24.3		 pathogenic
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
GRCh37/hg19 3p25.2-24.2(chr3:13276005-24295240)x3 copy number gain not provided [RCV000742260] Chr3:13276005..24295240 [GRCh37]
Chr3:3p25.2-24.2		 pathogenic
NM_024923.4(NUP210):c.2906C>G (p.Ala969Gly) single nucleotide variant not specified [RCV004288356] Chr3:13343233 [GRCh38]
Chr3:13384733 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2928G>A (p.Ser976=) single nucleotide variant not provided [RCV000902943] Chr3:13343211 [GRCh38]
Chr3:13384711 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.1819G>A (p.Gly607Ser) single nucleotide variant not provided [RCV000926232] Chr3:13366059 [GRCh38]
Chr3:13407559 [GRCh37]
Chr3:3p25.1		 likely benign
Single allele deletion 3p- syndrome [RCV002280352] Chr3:13371737..20095506 [GRCh38]
Chr3:3p25.1-24.3		 pathogenic
NM_024923.4(NUP210):c.3406G>A (p.Gly1136Ser) single nucleotide variant not provided [RCV000883620] Chr3:13339919 [GRCh38]
Chr3:13381419 [GRCh37]
Chr3:3p25.1		 benign
NM_024923.4(NUP210):c.3967C>G (p.Leu1323Val) single nucleotide variant not specified [RCV004320423] Chr3:13330603 [GRCh38]
Chr3:13372103 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3608A>G (p.Asn1203Ser) single nucleotide variant not provided [RCV000997997] Chr3:13336863 [GRCh38]
Chr3:13378363 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2891T>C (p.Val964Ala) single nucleotide variant not provided [RCV000964115] Chr3:13343248 [GRCh38]
Chr3:13384748 [GRCh37]
Chr3:3p25.1		 benign
NM_024923.4(NUP210):c.4933A>G (p.Ile1645Val) single nucleotide variant not specified [RCV004298306] Chr3:13321818 [GRCh38]
Chr3:13363318 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.4409T>C (p.Met1470Thr) single nucleotide variant not specified [RCV004300268] Chr3:13327315 [GRCh38]
Chr3:13368815 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.5079C>T (p.Ala1693=) single nucleotide variant not provided [RCV000935768] Chr3:13321672 [GRCh38]
Chr3:13363172 [GRCh37]
Chr3:3p25.1		 benign
GRCh37/hg19 3p25.2-25.1(chr3:13265679-13692435)x3 copy number gain not provided [RCV001259806] Chr3:13265679..13692435 [GRCh37]
Chr3:3p25.2-25.1		 uncertain significance
NM_024923.4(NUP210):c.*1195T>C single nucleotide variant not provided [RCV001539762] Chr3:13316486 [GRCh38]
Chr3:13357986 [GRCh37]
Chr3:3p25.1		 benign
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821) copy number gain not specified [RCV002053299] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) copy number gain not specified [RCV002053300] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
NM_024923.4(NUP210):c.3139C>T (p.Arg1047Cys) single nucleotide variant not specified [RCV004330829] Chr3:13341837 [GRCh38]
Chr3:13383337 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4228G>A (p.Asp1410Asn) single nucleotide variant not specified [RCV004329132] Chr3:13328829 [GRCh38]
Chr3:13370329 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4391C>T (p.Pro1464Leu) single nucleotide variant not specified [RCV004200385] Chr3:13327333 [GRCh38]
Chr3:13368833 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4624C>T (p.His1542Tyr) single nucleotide variant not specified [RCV004204124] Chr3:13325815 [GRCh38]
Chr3:13367315 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3977C>T (p.Pro1326Leu) single nucleotide variant not specified [RCV004165425] Chr3:13330593 [GRCh38]
Chr3:13372093 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4597G>A (p.Val1533Met) single nucleotide variant not specified [RCV004103039] Chr3:13325842 [GRCh38]
Chr3:13367342 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3931A>G (p.Asn1311Asp) single nucleotide variant not specified [RCV004180910] Chr3:13332297 [GRCh38]
Chr3:13373797 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.5206G>A (p.Glu1736Lys) single nucleotide variant not specified [RCV004155473] Chr3:13319940 [GRCh38]
Chr3:13361440 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2450C>T (p.Ala817Val) single nucleotide variant not specified [RCV004192288] Chr3:13353986 [GRCh38]
Chr3:13395486 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1256C>T (p.Thr419Met) single nucleotide variant not specified [RCV004103056] Chr3:13376328 [GRCh38]
Chr3:13417828 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3775G>C (p.Ala1259Pro) single nucleotide variant not specified [RCV004235659] Chr3:13335522 [GRCh38]
Chr3:13377022 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1825C>T (p.Arg609Trp) single nucleotide variant not specified [RCV004204388] Chr3:13366053 [GRCh38]
Chr3:13407553 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2458G>A (p.Glu820Lys) single nucleotide variant not specified [RCV004126711] Chr3:13353978 [GRCh38]
Chr3:13395478 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3979G>A (p.Glu1327Lys) single nucleotide variant not specified [RCV004195106] Chr3:13330591 [GRCh38]
Chr3:13372091 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2000G>C (p.Gly667Ala) single nucleotide variant not specified [RCV004117357] Chr3:13360424 [GRCh38]
Chr3:13401924 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3655G>A (p.Val1219Ile) single nucleotide variant not specified [RCV004202146] Chr3:13336816 [GRCh38]
Chr3:13378316 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.2207C>T (p.Ala736Val) single nucleotide variant not specified [RCV004158724] Chr3:13358343 [GRCh38]
Chr3:13399843 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4033A>G (p.Met1345Val) single nucleotide variant not specified [RCV004114836] Chr3:13330537 [GRCh38]
Chr3:13372037 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.1415A>G (p.Tyr472Cys) single nucleotide variant not specified [RCV004102350] Chr3:13375520 [GRCh38]
Chr3:13417020 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1134C>A (p.Asn378Lys) single nucleotide variant not specified [RCV004178134] Chr3:13377474 [GRCh38]
Chr3:13418974 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.977G>A (p.Ser326Asn) single nucleotide variant not specified [RCV004099763] Chr3:13378980 [GRCh38]
Chr3:13420480 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4684C>T (p.Leu1562Phe) single nucleotide variant not specified [RCV004106548] Chr3:13323393 [GRCh38]
Chr3:13364893 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4583G>A (p.Arg1528Gln) single nucleotide variant not specified [RCV004085234] Chr3:13325856 [GRCh38]
Chr3:13367356 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3695G>A (p.Arg1232Gln) single nucleotide variant not specified [RCV004112994] Chr3:13335602 [GRCh38]
Chr3:13377102 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.4555G>A (p.Asp1519Asn) single nucleotide variant not specified [RCV004245289] Chr3:13325884 [GRCh38]
Chr3:13367384 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2080C>G (p.Leu694Val) single nucleotide variant not specified [RCV004103653] Chr3:13360344 [GRCh38]
Chr3:13401844 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1942C>T (p.Pro648Ser) single nucleotide variant not specified [RCV004131474] Chr3:13360482 [GRCh38]
Chr3:13401982 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2866A>G (p.Ile956Val) single nucleotide variant not specified [RCV004168136] Chr3:13343273 [GRCh38]
Chr3:13384773 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.198C>G (p.Ile66Met) single nucleotide variant not specified [RCV004134508] Chr3:13399831 [GRCh38]
Chr3:13441331 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3248T>G (p.Leu1083Arg) single nucleotide variant not specified [RCV004247095] Chr3:13340279 [GRCh38]
Chr3:13381779 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2390G>A (p.Arg797His) single nucleotide variant not specified [RCV004140570] Chr3:13354046 [GRCh38]
Chr3:13395546 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2635C>T (p.Pro879Ser) single nucleotide variant not specified [RCV004089729] Chr3:13352178 [GRCh38]
Chr3:13393678 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.265C>G (p.Pro89Ala) single nucleotide variant not specified [RCV004233952] Chr3:13399764 [GRCh38]
Chr3:13441264 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.5465C>T (p.Ala1822Val) single nucleotide variant not specified [RCV004107780] Chr3:13319244 [GRCh38]
Chr3:13360744 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1625C>T (p.Pro542Leu) single nucleotide variant not specified [RCV004187874] Chr3:13371995 [GRCh38]
Chr3:13413495 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2585G>A (p.Gly862Asp) single nucleotide variant not specified [RCV004204964] Chr3:13353597 [GRCh38]
Chr3:13395097 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1839G>C (p.Glu613Asp) single nucleotide variant not specified [RCV004240774] Chr3:13366039 [GRCh38]
Chr3:13407539 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2218G>A (p.Ala740Thr) single nucleotide variant not specified [RCV004239228] Chr3:13358332 [GRCh38]
Chr3:13399832 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2221G>T (p.Val741Leu) single nucleotide variant not specified [RCV004164416] Chr3:13358329 [GRCh38]
Chr3:13399829 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1862T>C (p.Leu621Pro) single nucleotide variant not specified [RCV004189590] Chr3:13366016 [GRCh38]
Chr3:13407516 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2494G>A (p.Asp832Asn) single nucleotide variant not specified [RCV004224751] Chr3:13353942 [GRCh38]
Chr3:13395442 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4930T>G (p.Ser1644Ala) single nucleotide variant not specified [RCV004147771] Chr3:13321821 [GRCh38]
Chr3:13363321 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4166A>T (p.Asn1389Ile) single nucleotide variant not specified [RCV004081037] Chr3:13328891 [GRCh38]
Chr3:13370391 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.574T>G (p.Tyr192Asp) single nucleotide variant not specified [RCV004166564] Chr3:13388413 [GRCh38]
Chr3:13429913 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.5144C>T (p.Pro1715Leu) single nucleotide variant not specified [RCV004168098] Chr3:13321607 [GRCh38]
Chr3:13363107 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3520G>A (p.Ala1174Thr) single nucleotide variant not specified [RCV004136589] Chr3:13337869 [GRCh38]
Chr3:13379369 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1886T>G (p.Val629Gly) single nucleotide variant not specified [RCV004238912] Chr3:13365992 [GRCh38]
Chr3:13407492 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2651C>T (p.Ser884Leu) single nucleotide variant not specified [RCV004130767] Chr3:13352162 [GRCh38]
Chr3:13393662 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3189A>C (p.Lys1063Asn) single nucleotide variant not specified [RCV004152240] Chr3:13341787 [GRCh38]
Chr3:13383287 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1379T>C (p.Ile460Thr) single nucleotide variant not specified [RCV004167431] Chr3:13375556 [GRCh38]
Chr3:13417056 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4381G>A (p.Ala1461Thr) single nucleotide variant not specified [RCV004186614] Chr3:13327343 [GRCh38]
Chr3:13368843 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.314A>G (p.Gln105Arg) single nucleotide variant not specified [RCV004195292] Chr3:13397479 [GRCh38]
Chr3:13438979 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.5200G>A (p.Ala1734Thr) single nucleotide variant not specified [RCV004163455] Chr3:13319946 [GRCh38]
Chr3:13361446 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1850C>G (p.Ser617Cys) single nucleotide variant not specified [RCV004193296] Chr3:13366028 [GRCh38]
Chr3:13407528 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2503G>A (p.Gly835Ser) single nucleotide variant not specified [RCV004183268] Chr3:13353933 [GRCh38]
Chr3:13395433 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1268C>T (p.Ala423Val) single nucleotide variant not specified [RCV004205494] Chr3:13376316 [GRCh38]
Chr3:13417816 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3359C>T (p.Ala1120Val) single nucleotide variant not specified [RCV004209117] Chr3:13339966 [GRCh38]
Chr3:13381466 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.5365C>T (p.Arg1789Cys) single nucleotide variant not specified [RCV004236326] Chr3:13319781 [GRCh38]
Chr3:13361281 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4964G>A (p.Arg1655Gln) single nucleotide variant not specified [RCV004238603] Chr3:13321787 [GRCh38]
Chr3:13363287 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.857A>G (p.Gln286Arg) single nucleotide variant not provided [RCV004546779]|not specified [RCV004215776] Chr3:13379682 [GRCh38]
Chr3:13421182 [GRCh37]
Chr3:3p25.1		 likely benign|uncertain significance
NM_024923.4(NUP210):c.32T>C (p.Leu11Pro) single nucleotide variant not specified [RCV004205856] Chr3:13420195 [GRCh38]
Chr3:13461695 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.5624C>T (p.Pro1875Leu) single nucleotide variant not specified [RCV004140191] Chr3:13317721 [GRCh38]
Chr3:13359221 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1730C>A (p.Ser577Tyr) single nucleotide variant not specified [RCV004186896] Chr3:13371890 [GRCh38]
Chr3:13413390 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2232C>G (p.Phe744Leu) single nucleotide variant not specified [RCV004138599] Chr3:13358318 [GRCh38]
Chr3:13399818 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1192G>A (p.Glu398Lys) single nucleotide variant not specified [RCV004150754] Chr3:13376392 [GRCh38]
Chr3:13417892 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1063G>A (p.Gly355Ser) single nucleotide variant not specified [RCV004092324] Chr3:13377545 [GRCh38]
Chr3:13419045 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1527C>G (p.Ile509Met) single nucleotide variant not specified [RCV004212526] Chr3:13373778 [GRCh38]
Chr3:13415278 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.869C>T (p.Pro290Leu) single nucleotide variant not provided [RCV004546773]|not specified [RCV004157377] Chr3:13379670 [GRCh38]
Chr3:13421170 [GRCh37]
Chr3:3p25.1		 likely benign|uncertain significance
NM_024923.4(NUP210):c.3898A>G (p.Met1300Val) single nucleotide variant not specified [RCV004215202] Chr3:13332330 [GRCh38]
Chr3:13373830 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4121T>A (p.Val1374Asp) single nucleotide variant not specified [RCV004224055] Chr3:13328936 [GRCh38]
Chr3:13370436 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2402A>G (p.Asn801Ser) single nucleotide variant not specified [RCV004222351] Chr3:13354034 [GRCh38]
Chr3:13395534 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3964G>A (p.Val1322Ile) single nucleotide variant not specified [RCV004220943] Chr3:13330606 [GRCh38]
Chr3:13372106 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2347C>T (p.Arg783Cys) single nucleotide variant not specified [RCV004219663] Chr3:13354089 [GRCh38]
Chr3:13395589 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2627C>T (p.Pro876Leu) single nucleotide variant not specified [RCV004074621] Chr3:13353555 [GRCh38]
Chr3:13395055 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1699G>T (p.Ala567Ser) single nucleotide variant not specified [RCV004305829] Chr3:13371921 [GRCh38]
Chr3:13413421 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.5015C>G (p.Ser1672Cys) single nucleotide variant not specified [RCV004283157] Chr3:13321736 [GRCh38]
Chr3:13363236 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2917G>A (p.Val973Ile) single nucleotide variant not specified [RCV004249591] Chr3:13343222 [GRCh38]
Chr3:13384722 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.5591C>T (p.Pro1864Leu) single nucleotide variant not specified [RCV004263692] Chr3:13317754 [GRCh38]
Chr3:13359254 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2606G>C (p.Ser869Thr) single nucleotide variant not specified [RCV004252377] Chr3:13353576 [GRCh38]
Chr3:13395076 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.230C>A (p.Ser77Tyr) single nucleotide variant not specified [RCV004277287] Chr3:13399799 [GRCh38]
Chr3:13441299 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4538A>G (p.Asn1513Ser) single nucleotide variant not specified [RCV004252674] Chr3:13325901 [GRCh38]
Chr3:13367401 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.2344C>T (p.His782Tyr) single nucleotide variant not specified [RCV004252553] Chr3:13354092 [GRCh38]
Chr3:13395592 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1199T>C (p.Leu400Pro) single nucleotide variant not specified [RCV004265225] Chr3:13376385 [GRCh38]
Chr3:13417885 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4039G>A (p.Gly1347Arg) single nucleotide variant not specified [RCV004261315] Chr3:13330531 [GRCh38]
Chr3:13372031 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4825A>G (p.Ile1609Val) single nucleotide variant not specified [RCV004264811] Chr3:13322283 [GRCh38]
Chr3:13363783 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.982C>T (p.Arg328Cys) single nucleotide variant not specified [RCV004279296] Chr3:13378975 [GRCh38]
Chr3:13420475 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.400C>T (p.Pro134Ser) single nucleotide variant not specified [RCV004279358] Chr3:13397393 [GRCh38]
Chr3:13438893 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.5576C>T (p.Ser1859Leu) single nucleotide variant not specified [RCV004296673] Chr3:13317769 [GRCh38]
Chr3:13359269 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2301T>G (p.Cys767Trp) single nucleotide variant not specified [RCV004315573] Chr3:13358249 [GRCh38]
Chr3:13399749 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.864C>A (p.Ser288Arg) single nucleotide variant not specified [RCV004336179] Chr3:13379675 [GRCh38]
Chr3:13421175 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2949C>G (p.Ile983Met) single nucleotide variant not specified [RCV004347238] Chr3:13343190 [GRCh38]
Chr3:13384690 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.5519C>T (p.Pro1840Leu) single nucleotide variant not specified [RCV004351848] Chr3:13319116 [GRCh38]
Chr3:13360616 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.268G>A (p.Ala90Thr) single nucleotide variant not specified [RCV004343139] Chr3:13399761 [GRCh38]
Chr3:13441261 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4224C>G (p.Phe1408Leu) single nucleotide variant not specified [RCV004350349] Chr3:13328833 [GRCh38]
Chr3:13370333 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3398T>C (p.Ile1133Thr) single nucleotide variant not specified [RCV004335964] Chr3:13339927 [GRCh38]
Chr3:13381427 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1108A>G (p.Ile370Val) single nucleotide variant not specified [RCV004344720] Chr3:13377500 [GRCh38]
Chr3:13419000 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.3913T>C (p.Tyr1305His) single nucleotide variant not specified [RCV004338405] Chr3:13332315 [GRCh38]
Chr3:13373815 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1750G>A (p.Glu584Lys) single nucleotide variant not specified [RCV004359491] Chr3:13371870 [GRCh38]
Chr3:13413370 [GRCh37]
Chr3:3p25.1		 uncertain significance
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3 copy number gain not provided [RCV003484107] Chr3:310747..28297447 [GRCh37]
Chr3:3p26.3-24.1		 pathogenic
NM_024923.4(NUP210):c.5504G>A (p.Arg1835Gln) single nucleotide variant not provided [RCV003433476]|not specified [RCV004364587] Chr3:13319131 [GRCh38]
Chr3:13360631 [GRCh37]
Chr3:3p25.1		 likely benign|uncertain significance
NM_024923.4(NUP210):c.3360G>A (p.Ala1120=) single nucleotide variant not provided [RCV003433477] Chr3:13339965 [GRCh38]
Chr3:13381465 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.2853G>A (p.Pro951=) single nucleotide variant not provided [RCV003433479] Chr3:13343286 [GRCh38]
Chr3:13384786 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.3300C>T (p.Ser1100=) single nucleotide variant not provided [RCV003433478] Chr3:13340025 [GRCh38]
Chr3:13381525 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.2491G>C (p.Asp831His) single nucleotide variant not provided [RCV003433480] Chr3:13353945 [GRCh38]
Chr3:13395445 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.437-3T>C single nucleotide variant not provided [RCV003433481] Chr3:13391310 [GRCh38]
Chr3:13432810 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.1626G>C (p.Pro542=) single nucleotide variant NUP210-related disorder [RCV003939259]|not provided [RCV003885682] Chr3:13371994 [GRCh38]
Chr3:13413494 [GRCh37]
Chr3:3p25.1		 likely benign
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 copy number gain not specified [RCV003986437] Chr3:61891..33946644 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
NM_024923.4(NUP210):c.305-524G>A single nucleotide variant not provided [RCV003736400] Chr3:13398012 [GRCh38]
Chr3:13439512 [GRCh37]
Chr3:3p25.1		 benign
NM_024923.4(NUP210):c.1856C>T (p.Thr619Met) single nucleotide variant not specified [RCV004488463] Chr3:13366022 [GRCh38]
Chr3:13407522 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2071G>A (p.Gly691Ser) single nucleotide variant not specified [RCV004488465] Chr3:13360353 [GRCh38]
Chr3:13401853 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.2192C>T (p.Thr731Ile) single nucleotide variant not specified [RCV004488467] Chr3:13358358 [GRCh38]
Chr3:13399858 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.292G>T (p.Ala98Ser) single nucleotide variant not specified [RCV004488470] Chr3:13399737 [GRCh38]
Chr3:13441237 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4183G>A (p.Ala1395Thr) single nucleotide variant not specified [RCV004488479] Chr3:13328874 [GRCh38]
Chr3:13370374 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.893G>A (p.Arg298Gln) single nucleotide variant not specified [RCV004488490] Chr3:13379646 [GRCh38]
Chr3:13421146 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.941A>G (p.Gln314Arg) single nucleotide variant not specified [RCV004488491] Chr3:13379598 [GRCh38]
Chr3:13421098 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2599C>T (p.His867Tyr) single nucleotide variant NUP210-related disorder [RCV003894349] Chr3:13353583 [GRCh38]
Chr3:13395083 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.1909A>G (p.Ile637Val) single nucleotide variant not specified [RCV004488464] Chr3:13365969 [GRCh38]
Chr3:13407469 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2102G>A (p.Arg701Gln) single nucleotide variant not specified [RCV004488466] Chr3:13360322 [GRCh38]
Chr3:13401822 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3370G>A (p.Ala1124Thr) single nucleotide variant not specified [RCV004488472] Chr3:13339955 [GRCh38]
Chr3:13381455 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3374C>T (p.Ala1125Val) single nucleotide variant not specified [RCV004488473] Chr3:13339951 [GRCh38]
Chr3:13381451 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3824C>G (p.Ser1275Trp) single nucleotide variant not specified [RCV004488475] Chr3:13335473 [GRCh38]
Chr3:13376973 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4054G>C (p.Glu1352Gln) single nucleotide variant not specified [RCV004488477] Chr3:13330516 [GRCh38]
Chr3:13372016 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4489G>C (p.Val1497Leu) single nucleotide variant not specified [RCV004488482] Chr3:13327235 [GRCh38]
Chr3:13368735 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4565C>T (p.Thr1522Met) single nucleotide variant not specified [RCV004488483] Chr3:13325874 [GRCh38]
Chr3:13367374 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4567G>A (p.Gly1523Ser) single nucleotide variant not specified [RCV004488484] Chr3:13325872 [GRCh38]
Chr3:13367372 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4793A>G (p.Glu1598Gly) single nucleotide variant not specified [RCV004488485] Chr3:13322315 [GRCh38]
Chr3:13363815 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.5438C>T (p.Thr1813Met) single nucleotide variant not specified [RCV004488486] Chr3:13319271 [GRCh38]
Chr3:13360771 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.62C>G (p.Pro21Arg) single nucleotide variant not specified [RCV004488488] Chr3:13420165 [GRCh38]
Chr3:13461665 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.5543G>A (p.Ser1848Asn) single nucleotide variant not specified [RCV004488487] Chr3:13319092 [GRCh38]
Chr3:13360592 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.661C>T (p.Arg221Cys) single nucleotide variant not specified [RCV004488489] Chr3:13388326 [GRCh38]
Chr3:13429826 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3400G>A (p.Gly1134Arg) single nucleotide variant not specified [RCV004488474] Chr3:13339925 [GRCh38]
Chr3:13381425 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3961C>T (p.Arg1321Cys) single nucleotide variant not specified [RCV004488476] Chr3:13330609 [GRCh38]
Chr3:13372109 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4126T>C (p.Tyr1376His) single nucleotide variant not specified [RCV004488478] Chr3:13328931 [GRCh38]
Chr3:13370431 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4340G>A (p.Arg1447His) single nucleotide variant not specified [RCV004488481] Chr3:13327384 [GRCh38]
Chr3:13368884 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2490G>C (p.Gln830His) single nucleotide variant not specified [RCV004488468] Chr3:13353946 [GRCh38]
Chr3:13395446 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2788G>A (p.Ala930Thr) single nucleotide variant not specified [RCV004488469] Chr3:13351926 [GRCh38]
Chr3:13393426 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.5149G>A (p.Val1717Ile) single nucleotide variant NUP210-related disorder [RCV003924270] Chr3:13321602 [GRCh38]
Chr3:13363102 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.1091G>A (p.Arg364His) single nucleotide variant NUP210-related disorder [RCV003913908] Chr3:13377517 [GRCh38]
Chr3:13419017 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.4602G>A (p.Thr1534=) single nucleotide variant NUP210-related disorder [RCV003899816] Chr3:13325837 [GRCh38]
Chr3:13367337 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.2197C>A (p.Pro733Thr) single nucleotide variant NUP210-related disorder [RCV003971925] Chr3:13358353 [GRCh38]
Chr3:13399853 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.3042C>G (p.Phe1014Leu) single nucleotide variant not specified [RCV004488471] Chr3:13342046 [GRCh38]
Chr3:13383546 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4291G>A (p.Asp1431Asn) single nucleotide variant not specified [RCV004488480] Chr3:13327433 [GRCh38]
Chr3:13368933 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3517C>T (p.Arg1173Cys) single nucleotide variant not provided [RCV004545994] Chr3:13337872 [GRCh38]
Chr3:13379372 [GRCh37]
Chr3:3p25.1		 likely benign
GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3 copy number gain not provided [RCV004577500] Chr3:60000..34461438 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
NM_024923.4(NUP210):c.3772A>G (p.Lys1258Glu) single nucleotide variant not specified [RCV004638883] Chr3:13335525 [GRCh38]
Chr3:13377025 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1817G>T (p.Ser606Ile) single nucleotide variant not specified [RCV004652731] Chr3:13366061 [GRCh38]
Chr3:13407561 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.727A>C (p.Ile243Leu) single nucleotide variant not specified [RCV004652732] Chr3:13386365 [GRCh38]
Chr3:13427865 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2660T>C (p.Ile887Thr) single nucleotide variant not specified [RCV004638877] Chr3:13352153 [GRCh38]
Chr3:13393653 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1696G>A (p.Gly566Arg) single nucleotide variant not specified [RCV004638875] Chr3:13371924 [GRCh38]
Chr3:13413424 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.691C>T (p.Arg231Cys) single nucleotide variant not specified [RCV004652718] Chr3:13386401 [GRCh38]
Chr3:13427901 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.332C>G (p.Ala111Gly) single nucleotide variant not specified [RCV004652719] Chr3:13397461 [GRCh38]
Chr3:13438961 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.5648C>A (p.Ala1883Asp) single nucleotide variant not specified [RCV004652724] Chr3:13317697 [GRCh38]
Chr3:13359197 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3214C>T (p.Pro1072Ser) single nucleotide variant not specified [RCV004652725] Chr3:13341762 [GRCh38]
Chr3:13383262 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.4262C>T (p.Ser1421Leu) single nucleotide variant not specified [RCV004652726] Chr3:13328795 [GRCh38]
Chr3:13370295 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.874C>T (p.Pro292Ser) single nucleotide variant not specified [RCV004652727] Chr3:13379665 [GRCh38]
Chr3:13421165 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3682G>A (p.Glu1228Lys) single nucleotide variant not specified [RCV004652728] Chr3:13336789 [GRCh38]
Chr3:13378289 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3689C>T (p.Ser1230Leu) single nucleotide variant not specified [RCV004652730] Chr3:13335608 [GRCh38]
Chr3:13377108 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3613G>A (p.Val1205Met) single nucleotide variant not specified [RCV004638874] Chr3:13336858 [GRCh38]
Chr3:13378358 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.524A>G (p.Asn175Ser) single nucleotide variant not specified [RCV004638878] Chr3:13391220 [GRCh38]
Chr3:13432720 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.3307G>A (p.Gly1103Ser) single nucleotide variant not specified [RCV004638880] Chr3:13340018 [GRCh38]
Chr3:13381518 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1711G>A (p.Val571Ile) single nucleotide variant not specified [RCV004638882] Chr3:13371909 [GRCh38]
Chr3:13413409 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2101C>T (p.Arg701Trp) single nucleotide variant not specified [RCV004652720] Chr3:13360323 [GRCh38]
Chr3:13401823 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.500C>T (p.Ala167Val) single nucleotide variant not specified [RCV004652721] Chr3:13391244 [GRCh38]
Chr3:13432744 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.1834G>A (p.Ala612Thr) single nucleotide variant not specified [RCV004652723] Chr3:13366044 [GRCh38]
Chr3:13407544 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.5044G>C (p.Gly1682Arg) single nucleotide variant not specified [RCV004652729] Chr3:13321707 [GRCh38]
Chr3:13363207 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2135G>A (p.Cys712Tyr) single nucleotide variant not specified [RCV004638879] Chr3:13360289 [GRCh38]
Chr3:13401789 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_024923.4(NUP210):c.2263G>A (p.Ala755Thr) single nucleotide variant not specified [RCV004638881] Chr3:13358287 [GRCh38]
Chr3:13399787 [GRCh37]
Chr3:3p25.1		 likely benign
NM_024923.4(NUP210):c.2254C>T (p.Leu752Phe) single nucleotide variant not provided [RCV004727543] Chr3:13358296 [GRCh38]
Chr3:13399796 [GRCh37]
Chr3:3p25.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1754
Count of miRNA genes:837
Interacting mature miRNAs:987
Transcripts:ENST00000254508, ENST00000420141, ENST00000479519, ENST00000485755
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597300058GWAS1396132_Hbody mass index QTL GWAS1396132 (human)1e-08body mass indexbody mass index (BMI) (CMO:0000105)31339165813391659Human
597334969GWAS1431043_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS1431043 (human)2e-12severe acute respiratory syndrome, COVID-1931339681913396820Human
597019889GWAS1115963_Hbody mass index QTL GWAS1115963 (human)5e-08body mass indexbody mass index (BMI) (CMO:0000105)31339165813391659Human
597115199GWAS1211273_Hcoronary artery disease QTL GWAS1211273 (human)0.0000002coronary artery disease31332917413329175Human
597139903GWAS1235977_HCOVID-19 QTL GWAS1235977 (human)1e-08COVID-1931340523313405234Human
597207698GWAS1303772_Hmathematical ability QTL GWAS1303772 (human)2e-08mathematical ability31337688313376884Human
596950425GWAS1069944_HRed cell distribution width QTL GWAS1069944 (human)5e-10Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)31339108113391082Human
597175255GWAS1271329_Hbody mass index QTL GWAS1271329 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)31339165813391659Human
597089670GWAS1185744_HRed cell distribution width QTL GWAS1185744 (human)5e-10Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)31339108113391082Human
596986757GWAS1106276_Hbody mass index QTL GWAS1106276 (human)1e-08body mass indexbody mass index (BMI) (CMO:0000105)31339165813391659Human
597603052GWAS1659912_Htype 2 diabetes mellitus QTL GWAS1659912 (human)3e-08type 2 diabetes mellitus31338544713385448Human
597173198GWAS1269272_Hbody mass index QTL GWAS1269272 (human)9e-15body mass indexbody mass index (BMI) (CMO:0000105)31336605613366057Human
597408909GWAS1504983_Hserum alanine aminotransferase measurement QTL GWAS1504983 (human)9e-10serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)31338578813385789Human
597342658GWAS1438732_Hserum alanine aminotransferase measurement QTL GWAS1438732 (human)8e-11serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)31339673413396735Human
407386225GWAS1035201_Hobsolete_red blood cell distribution width QTL GWAS1035201 (human)5e-10obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)31339108113391082Human
2316345GLUCO224_HGlucose level QTL 224 (human)1.270.008Glucose level3121543441Human
597030447GWAS1126521_Hbody mass index QTL GWAS1126521 (human)9e-08body mass indexbody mass index (BMI) (CMO:0000105)31331663013316631Human

Markers in Region
D3S3948  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37313,357,774 - 13,358,051UniSTSGRCh37
Build 36313,332,774 - 13,333,051RGDNCBI36
Celera313,296,028 - 13,296,305RGD
Cytogenetic Map3p25.1UniSTS
HuRef313,291,117 - 13,291,394UniSTS
GeneMap99-GB4 RH Map352.79UniSTS
Whitehead-RH Map358.6UniSTS
G09947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37313,366,274 - 13,366,444UniSTSGRCh37
Build 36313,341,274 - 13,341,444RGDNCBI36
Celera313,304,528 - 13,304,698RGD
Cytogenetic Map3p25.1UniSTS
HuRef313,299,617 - 13,299,787UniSTS
Cda14e10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37313,357,782 - 13,358,032UniSTSGRCh37
Build 36313,332,782 - 13,333,032RGDNCBI36
Celera313,296,036 - 13,296,286RGD
Cytogenetic Map3p25.1UniSTS
HuRef313,291,125 - 13,291,375UniSTS
TNG Radiation Hybrid Map38395.0UniSTS
GeneMap99-GB4 RH Map356.69UniSTS
RH12715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37313,357,826 - 13,357,968UniSTSGRCh37
Build 36313,332,826 - 13,332,968RGDNCBI36
Celera313,296,080 - 13,296,222RGD
Cytogenetic Map3p25.1UniSTS
HuRef313,291,169 - 13,291,311UniSTS
GeneMap99-GB4 RH Map352.49UniSTS
NUP210__3790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37313,357,849 - 13,358,770UniSTSGRCh37
Build 36313,332,849 - 13,333,770RGDNCBI36
Celera313,296,103 - 13,297,024RGD
HuRef313,291,192 - 13,292,113UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2434 2788 2250 4963 1723 2348 5 624 1951 465 2267 7299 6467 48 3727 1 851 1744 1614 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_024923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007095651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA909765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB020713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC027124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM508095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY177936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000254508   ⟹   ENSP00000254508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl313,316,235 - 13,420,322 (-)Ensembl
Ensembl Acc Id: ENST00000420141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl313,350,891 - 13,420,309 (-)Ensembl
Ensembl Acc Id: ENST00000479519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl313,351,661 - 13,354,694 (-)Ensembl
Ensembl Acc Id: ENST00000485755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl313,336,809 - 13,341,141 (-)Ensembl
Ensembl Acc Id: ENST00000695489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl313,316,255 - 13,320,873 (-)Ensembl
Ensembl Acc Id: ENST00000695490   ⟹   ENSP00000511960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl313,316,255 - 13,352,130 (-)Ensembl
Ensembl Acc Id: ENST00000695491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl313,320,917 - 13,360,425 (-)Ensembl
Ensembl Acc Id: ENST00000695492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl313,383,564 - 13,420,255 (-)Ensembl
RefSeq Acc Id: NM_024923   ⟹   NP_079199
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38313,316,235 - 13,420,322 (-)NCBI
GRCh37313,357,730 - 13,461,819 (-)NCBI
Build 36313,332,737 - 13,436,809 (-)NCBI Archive
HuRef313,291,073 - 13,394,965 (-)NCBI
CHM1_1313,307,763 - 13,411,847 (-)NCBI
T2T-CHM13v2.0313,316,581 - 13,420,679 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005264994   ⟹   XP_005265051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38313,348,490 - 13,420,322 (-)NCBI
GRCh37313,357,730 - 13,461,819 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533538   ⟹   XP_011531840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38313,347,420 - 13,420,322 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047447795   ⟹   XP_047303751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38313,316,235 - 13,347,368 (-)NCBI
RefSeq Acc Id: XM_047447796   ⟹   XP_047303752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38313,316,235 - 13,347,083 (-)NCBI
RefSeq Acc Id: XM_047447797   ⟹   XP_047303753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38313,316,235 - 13,347,368 (-)NCBI
RefSeq Acc Id: XM_047447798   ⟹   XP_047303754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38313,349,115 - 13,420,322 (-)NCBI
RefSeq Acc Id: XM_054345848   ⟹   XP_054201823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0313,348,321 - 13,420,679 (-)NCBI
RefSeq Acc Id: XM_054345849   ⟹   XP_054201824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0313,316,581 - 13,347,722 (-)NCBI
RefSeq Acc Id: XM_054345850   ⟹   XP_054201825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0313,316,581 - 13,347,437 (-)NCBI
RefSeq Acc Id: XM_054345851   ⟹   XP_054201826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0313,316,581 - 13,347,722 (-)NCBI
RefSeq Acc Id: XM_054345852   ⟹   XP_054201827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0313,349,252 - 13,420,679 (-)NCBI
RefSeq Acc Id: XR_007095651
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38313,344,992 - 13,420,322 (-)NCBI
RefSeq Acc Id: XR_008486679
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0313,345,397 - 13,420,679 (-)NCBI
RefSeq Acc Id: XR_008486680
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0313,345,399 - 13,420,679 (-)NCBI
RefSeq Acc Id: NP_079199   ⟸   NM_024923
- Peptide Label: precursor
- UniProtKB: Q8TEM1 (UniProtKB/Swiss-Prot),   Q9H6C8 (UniProtKB/Swiss-Prot),   Q8NBJ1 (UniProtKB/Swiss-Prot),   Q6NXG6 (UniProtKB/Swiss-Prot),   O94980 (UniProtKB/Swiss-Prot),   A6NN56 (UniProtKB/Swiss-Prot),   Q9UFP3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005265051   ⟸   XM_005264994
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011531840   ⟸   XM_011533538
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000254508   ⟸   ENST00000254508
Ensembl Acc Id: ENSP00000511960   ⟸   ENST00000695490
RefSeq Acc Id: XP_047303753   ⟸   XM_047447797
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047303751   ⟸   XM_047447795
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047303752   ⟸   XM_047447796
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047303754   ⟸   XM_047447798
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054201826   ⟸   XM_054345851
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054201824   ⟸   XM_054345849
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054201825   ⟸   XM_054345850
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054201823   ⟸   XM_054345848
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054201827   ⟸   XM_054345852
- Peptide Label: isoform X6
Protein Domains
BIG2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TEM1-F1-model_v2 AlphaFold Q8TEM1 1-1887 view protein structure

Promoters
RGD ID:6801371
Promoter ID:HG_KWN:43832
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000340088
Position:
Human AssemblyChrPosition (strand)Source
Build 36313,357,216 - 13,358,162 (-)MPROMDB
RGD ID:6801368
Promoter ID:HG_KWN:43833
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000340087
Position:
Human AssemblyChrPosition (strand)Source
Build 36313,370,446 - 13,371,972 (-)MPROMDB
RGD ID:6801370
Promoter ID:HG_KWN:43834
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:UC003BXX.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36313,394,951 - 13,395,451 (-)MPROMDB
RGD ID:6863634
Promoter ID:EPDNEW_H4982
Type:initiation region
Name:NUP210_1
Description:nucleoporin 210
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4983  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38313,420,292 - 13,420,352EPDNEW
RGD ID:6863636
Promoter ID:EPDNEW_H4983
Type:initiation region
Name:NUP210_2
Description:nucleoporin 210
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4982  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38313,421,110 - 13,421,170EPDNEW
RGD ID:6801369
Promoter ID:HG_KWN:43835
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_024923,   OTTHUMT00000340086
Position:
Human AssemblyChrPosition (strand)Source
Build 36313,436,611 - 13,437,792 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30052 AgrOrtholog
COSMIC NUP210 COSMIC
Ensembl Genes ENSG00000132182 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000254508 ENTREZGENE
  ENST00000254508.7 UniProtKB/Swiss-Prot
  ENST00000695490.1 UniProtKB/TrEMBL
GTEx ENSG00000132182 GTEx
HGNC ID HGNC:30052 ENTREZGENE
Human Proteome Map NUP210 Human Proteome Map
InterPro Big_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Invasin/intimin_cell_adhesion UniProtKB/Swiss-Prot
  NUP210-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUP210_Ig1 UniProtKB/Swiss-Prot
  NUP210_Ig15 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUP210_Ig2 UniProtKB/Swiss-Prot
  NUP210_Ig3 UniProtKB/Swiss-Prot
  NUP210_Ig7 UniProtKB/Swiss-Prot
  NUP210_Ig_C UniProtKB/Swiss-Prot
KEGG Report hsa:23225 UniProtKB/Swiss-Prot
NCBI Gene 23225 ENTREZGENE
OMIM 607703 OMIM
PANTHER NUCLEAR PORE MEMBRANE GLYCOPROTEIN 210 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUCLEAR PORE MEMBRANE GLYCOPROTEIN GP210-RELATED UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
Pfam Big_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUP210_Ig UniProtKB/Swiss-Prot
  NUP210_Ig1 UniProtKB/Swiss-Prot
  NUP210_Ig15 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUP210_Ig2 UniProtKB/Swiss-Prot
  NUP210_Ig3 UniProtKB/Swiss-Prot
  NUP210_Ig7 UniProtKB/Swiss-Prot
PharmGKB PA128394614 PharmGKB
SMART BID_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49373 UniProtKB/Swiss-Prot
UniProt A0A8Q3WKI1_HUMAN UniProtKB/TrEMBL
  A6NN56 ENTREZGENE
  O94980 ENTREZGENE
  PO210_HUMAN UniProtKB/Swiss-Prot
  Q6NXG6 ENTREZGENE
  Q8NBJ1 ENTREZGENE
  Q8TEM1 ENTREZGENE
  Q9H6C8 ENTREZGENE
  Q9UFP3 ENTREZGENE
UniProt Secondary A6NN56 UniProtKB/Swiss-Prot
  O94980 UniProtKB/Swiss-Prot
  Q6NXG6 UniProtKB/Swiss-Prot
  Q8NBJ1 UniProtKB/Swiss-Prot
  Q9H6C8 UniProtKB/Swiss-Prot
  Q9UFP3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 NUP210  nucleoporin 210  NUP210  nucleoporin 210kDa  Symbol and/or name change 5135510 APPROVED