CUL3 (cullin 3) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: CUL3 (cullin 3) Homo sapiens
Analyze
Symbol: CUL3
Name: cullin 3
RGD ID: 1317824
HGNC Page HGNC:2553
Description: Enables several functions, including Notch binding activity; POZ domain binding activity; and ubiquitin ligase complex scaffold activity. Contributes to ubiquitin-protein transferase activity. Involved in several processes, including positive regulation of cell cycle process; protein ubiquitination; and regulation of intracellular signal transduction. Acts upstream of or within anaphase-promoting complex-dependent catabolic process. Located in several cellular components, including microtubule cytoskeleton; nucleus; and sperm flagellum. Part of Cul3-RING ubiquitin ligase complex. Implicated in pseudohypoaldosteronism.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CUL-3; cullin-3; FLJ25665; NEDAUS; PHA2E
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
GRCh382224,470,150 - 224,585,363 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2224,470,150 - 224,585,397 (-)EnsemblGRCh38hg38GRCh38
GRCh372225,334,867 - 225,450,080 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362225,043,113 - 225,158,358 (-)NCBINCBI36Build 36hg18NCBI36
Build 342225,160,373 - 225,275,619NCBI
Celera2219,099,731 - 219,215,637 (-)NCBICelera
Cytogenetic Map2q36.2NCBI
HuRef2217,186,560 - 217,301,844 (-)NCBIHuRef
CHM1_12225,341,500 - 225,456,770 (-)NCBICHM1_1
T2T-CHM13v2.02224,952,401 - 225,067,578 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-tert-butylhydroquinone  (EXP,ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (ISO)
alpha-pinene  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
auramine O  (EXP)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
clozapine  (EXP)
decabromodiphenyl ether  (EXP)
diallyl trisulfide  (ISO)
diazinon  (ISO)
diclofenac  (EXP)
diethylstilbestrol  (EXP)
dorsomorphin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
ethanol  (ISO)
folic acid  (EXP,ISO)
FR900359  (EXP)
furan  (ISO)
gentamycin  (ISO)
inulin  (ISO)
ivermectin  (EXP)
leflunomide  (EXP)
melphalan  (EXP)
mercury dibromide  (EXP)
methylmercury chloride  (EXP)
motexafin gadolinium  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
pyrogallol  (ISO)
resveratrol  (EXP)
rimonabant  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
solanesol  (EXP)
succimer  (ISO)
sulforaphane  (EXP,ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vitamin E  (EXP)
zinc acetate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anaphase-promoting complex-dependent catabolic process  (IDA)
cell division  (IEA)
cell migration  (IMP)
cell morphogenesis  (IEA,ISO)
cell projection organization  (IEA)
cellular response to amino acid stimulus  (IDA)
COPII vesicle coating  (IMP)
embryonic cleavage  (IEA,ISS)
endoplasmic reticulum to Golgi vesicle-mediated transport  (IDA)
fibroblast apoptotic process  (IEA,ISO)
G1/S transition of mitotic cell cycle  (TAS)
gastrulation  (IEA,ISO)
gene expression  (IEA)
in utero embryonic development  (IEA,ISO)
inflammatory response  (IEA)
integrin-mediated signaling pathway  (IEA,ISS)
intrinsic apoptotic signaling pathway  (TAS)
kidney development  (ISO)
liver morphogenesis  (IEA,ISO)
mitotic cell cycle  (IEA,ISO)
mitotic metaphase chromosome alignment  (IMP)
negative regulation of Rho protein signal transduction  (IMP)
negative regulation of transcription by RNA polymerase II  (IEA,ISO)
negative regulation of type I interferon production  (IDA)
nuclear protein quality control by the ubiquitin-proteasome system  (IDA)
positive regulation of cell population proliferation  (TAS)
positive regulation of cytokinesis  (IMP)
positive regulation of mitotic cell cycle phase transition  (IMP)
positive regulation of mitotic metaphase/anaphase transition  (IMP)
positive regulation of protein ubiquitination  (IGI)
positive regulation of TORC1 signaling  (IDA)
proteasome-mediated ubiquitin-dependent protein catabolic process  (IDA,IEA,IMP,ISO)
protein autoubiquitination  (IDA)
protein catabolic process  (IEA)
protein destabilization  (IGI)
protein K48-linked ubiquitination  (IDA)
protein monoubiquitination  (IDA)
protein polyubiquitination  (IDA,IEA,ISO)
protein ubiquitination  (IBA,IDA,IEA)
regulation of transcription by RNA polymerase II  (IEA,ISO)
regulation protein catabolic process at postsynapse  (IEA)
stem cell division  (IEA,ISS)
stress fiber assembly  (IMP)
trophectodermal cellular morphogenesis  (IEA,ISO)
ubiquitin-dependent protein catabolic process  (IDA,IEA)
vesicle-mediated transport  (IEA)
Wnt signaling pathway  (IEA,ISO)

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. BTB protein Keap1 targets antioxidant transcription factor Nrf2 for ubiquitination by the Cullin 3-Roc1 ligase. Furukawa M and Xiong Y, Mol Cell Biol. 2005 Jan;25(1):162-71.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. The Nrf2 regulatory network provides an interface between redox and intermediary metabolism. Hayes JD and Dinkova-Kostova AT, Trends Biochem Sci. 2014 Apr;39(4):199-218. doi: 10.1016/j.tibs.2014.02.002. Epub 2014 Mar 16.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. Neddylation and deneddylation of CUL-3 is required to target MEI-1/Katanin for degradation at the meiosis-to-mitosis transition in C. elegans. Pintard L, etal., Curr Biol. 2003 May 27;13(11):911-21.
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8619474   PMID:8681378   PMID:9110174   PMID:9663463   PMID:9733711   PMID:9734811   PMID:10230407   PMID:10500095   PMID:10597293   PMID:11311237   PMID:11337588   PMID:11384984  
PMID:11861641   PMID:12477932   PMID:12481031   PMID:12609982   PMID:12684064   PMID:14528312   PMID:15107402   PMID:15282312   PMID:15302935   PMID:15367669   PMID:15448697   PMID:15489334  
PMID:15572695   PMID:15592455   PMID:15772280   PMID:15897469   PMID:15897978   PMID:15983046   PMID:16036220   PMID:16045761   PMID:16449638   PMID:16503656   PMID:16524876   PMID:16547521  
PMID:16620772   PMID:16790436   PMID:17046835   PMID:17148452   PMID:17192413   PMID:17254749   PMID:17439941   PMID:17543862   PMID:17550899   PMID:17699672   PMID:17822677   PMID:18075312  
PMID:18218622   PMID:18221766   PMID:18251510   PMID:18303015   PMID:18397884   PMID:18414007   PMID:18417180   PMID:18429817   PMID:18573101   PMID:18757741   PMID:18775313   PMID:18826954  
PMID:18835386   PMID:19037258   PMID:19056867   PMID:19158078   PMID:19250909   PMID:19256485   PMID:19261606   PMID:19295130   PMID:19427028   PMID:19489739   PMID:19615732   PMID:19617556  
PMID:19768582   PMID:19782033   PMID:19805454   PMID:19818708   PMID:19818716   PMID:19946888   PMID:19995937   PMID:20027226   PMID:20080956   PMID:20081843   PMID:20360068   PMID:20389280  
PMID:20421418   PMID:20452971   PMID:20463177   PMID:20534351   PMID:20554658   PMID:20562859   PMID:20599909   PMID:20800603   PMID:20847044   PMID:21145461   PMID:21237243   PMID:21244100  
PMID:21247897   PMID:21249194   PMID:21357422   PMID:21549840   PMID:21577200   PMID:21670212   PMID:21778237   PMID:21828050   PMID:21832049   PMID:21840486   PMID:21873635   PMID:21988832  
PMID:22013077   PMID:22073419   PMID:22085717   PMID:22147914   PMID:22215675   PMID:22219362   PMID:22245129   PMID:22245496   PMID:22266938   PMID:22358839   PMID:22405651   PMID:22466964  
PMID:22474075   PMID:22542517   PMID:22558124   PMID:22573887   PMID:22578813   PMID:22632832   PMID:22709582   PMID:22748208   PMID:22810651   PMID:22863883   PMID:22911784   PMID:22939624  
PMID:23040068   PMID:23135275   PMID:23142077   PMID:23201271   PMID:23213400   PMID:23213463   PMID:23308193   PMID:23349464   PMID:23365135   PMID:23387299   PMID:23453970   PMID:23454126  
PMID:23455478   PMID:23563313   PMID:23573258   PMID:23576762   PMID:23665031   PMID:23689903   PMID:23727018   PMID:23776465   PMID:23838290   PMID:23902721   PMID:23951410   PMID:23962426  
PMID:24024173   PMID:24067371   PMID:24076655   PMID:24082123   PMID:24145166   PMID:24192928   PMID:24266877   PMID:24269809   PMID:24322982   PMID:24518042   PMID:24608665   PMID:24747150  
PMID:24768539   PMID:24844779   PMID:24863065   PMID:24896564   PMID:25011449   PMID:25056061   PMID:25114896   PMID:25250572   PMID:25270598   PMID:25278611   PMID:25281560   PMID:25349211  
PMID:25401743   PMID:25416956   PMID:25502805   PMID:25544563   PMID:25551360   PMID:25619834   PMID:25628777   PMID:25684205   PMID:25742418   PMID:25848797   PMID:25882842   PMID:25921289  
PMID:25939382   PMID:25974686   PMID:25995385   PMID:26021998   PMID:26100637   PMID:26167880   PMID:26188516   PMID:26219975   PMID:26286618   PMID:26334369   PMID:26344095   PMID:26344197  
PMID:26349538   PMID:26399832   PMID:26511642   PMID:26514267   PMID:26544623   PMID:26649820   PMID:26687681   PMID:26717573   PMID:26757824   PMID:26766443   PMID:26885983   PMID:26906416  
PMID:26949739   PMID:26976604   PMID:27001857   PMID:27008177   PMID:27025967   PMID:27152988   PMID:27155323   PMID:27173435   PMID:27213918   PMID:27387502   PMID:27477274   PMID:27561354  
PMID:27565346   PMID:27609421   PMID:27621083   PMID:27664236   PMID:27705803   PMID:27708159   PMID:27716508   PMID:27780719   PMID:27833851   PMID:27899653   PMID:28060381   PMID:28077445  
PMID:28089830   PMID:28115426   PMID:28169274   PMID:28186440   PMID:28216678   PMID:28247911   PMID:28395323   PMID:28429677   PMID:28443643   PMID:28475037   PMID:28499918   PMID:28514442  
PMID:28574503   PMID:28581483   PMID:28593901   PMID:28599312   PMID:28619731   PMID:28718761   PMID:28804198   PMID:28805820   PMID:28807996   PMID:28859855   PMID:28860350   PMID:28963344  
PMID:28981750   PMID:29038302   PMID:29160310   PMID:29229926   PMID:29249570   PMID:29276004   PMID:29306329   PMID:29358211   PMID:29367246   PMID:29395067   PMID:29509190   PMID:29550478  
PMID:29568061   PMID:29695787   PMID:29769719   PMID:29897280   PMID:29958295   PMID:29999490   PMID:30097533   PMID:30154076   PMID:30190310   PMID:30244836   PMID:30273379   PMID:30287810  
PMID:30295347   PMID:30349055   PMID:30383469   PMID:30404837   PMID:30442762   PMID:30442766   PMID:30481304   PMID:30586619   PMID:30587576   PMID:30595538   PMID:30765703   PMID:30819806  
PMID:30837587   PMID:30872527   PMID:30896450   PMID:31067453   PMID:31081062   PMID:31091453   PMID:31178131   PMID:31280863   PMID:31296559   PMID:31319993   PMID:31337872   PMID:31431478  
PMID:31463796   PMID:31515271   PMID:31515488   PMID:31559706   PMID:31586073   PMID:31636116   PMID:31652307   PMID:31763849   PMID:31813255   PMID:31815296   PMID:31871319   PMID:31898229  
PMID:31898230   PMID:31901862   PMID:31944090   PMID:32047038   PMID:32129710   PMID:32268084   PMID:32296183   PMID:32313199   PMID:32341456   PMID:32416067   PMID:32433973   PMID:32434476  
PMID:32460168   PMID:32513696   PMID:32619053   PMID:32753315   PMID:32814053   PMID:32854194   PMID:32876072   PMID:32882949   PMID:32890664   PMID:33016927   PMID:33023230   PMID:33130828  
PMID:33144569   PMID:33173725   PMID:33184234   PMID:33187986   PMID:33226137   PMID:33292627   PMID:33391509   PMID:33417871   PMID:33504946   PMID:33742100   PMID:33872809   PMID:33961781  
PMID:33977871   PMID:33990333   PMID:34079125   PMID:34193016   PMID:34342229   PMID:34353330   PMID:34373451   PMID:34491895   PMID:34510437   PMID:34591642   PMID:34617407   PMID:34699319  
PMID:34795264   PMID:34857003   PMID:34857952   PMID:34878901   PMID:35013218   PMID:35013556   PMID:35032548   PMID:35088844   PMID:35120648   PMID:35194034   PMID:35194188   PMID:35256949  
PMID:35271311   PMID:35379950   PMID:35446349   PMID:35474067   PMID:35509820   PMID:35563538   PMID:35671810   PMID:35687106   PMID:35831314   PMID:35921411   PMID:35941131   PMID:36063543  
PMID:36168627   PMID:36198437   PMID:36215168   PMID:36368157   PMID:36394357   PMID:36526897   PMID:36543142   PMID:36604567   PMID:36652337   PMID:36724073   PMID:36936774   PMID:37070483  
PMID:37120575   PMID:37156295   PMID:37526061   PMID:37575477   PMID:37827155   PMID:37906282   PMID:38279499  


Genomics

Comparative Map Data
CUL3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382224,470,150 - 224,585,363 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2224,470,150 - 224,585,397 (-)EnsemblGRCh38hg38GRCh38
GRCh372225,334,867 - 225,450,080 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362225,043,113 - 225,158,358 (-)NCBINCBI36Build 36hg18NCBI36
Build 342225,160,373 - 225,275,619NCBI
Celera2219,099,731 - 219,215,637 (-)NCBICelera
Cytogenetic Map2q36.2NCBI
HuRef2217,186,560 - 217,301,844 (-)NCBIHuRef
CHM1_12225,341,500 - 225,456,770 (-)NCBICHM1_1
T2T-CHM13v2.02224,952,401 - 225,067,578 (-)NCBIT2T-CHM13v2.0
Cul3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39180,242,640 - 80,318,426 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl180,242,640 - 80,318,197 (-)EnsemblGRCm39 Ensembl
GRCm38180,264,923 - 80,340,690 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl180,264,923 - 80,340,480 (-)EnsemblGRCm38mm10GRCm38
MGSCv37180,263,393 - 80,337,005 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36180,145,842 - 80,219,467 (-)NCBIMGSCv36mm8
Celera180,291,823 - 80,365,420 (-)NCBICelera
Cytogenetic Map1C5NCBI
cM Map141.24NCBI
Cul3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8989,040,987 - 89,118,775 (-)NCBIGRCr8
mRatBN7.2981,592,641 - 81,670,428 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl981,592,641 - 81,670,462 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx990,022,642 - 90,100,355 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0995,151,541 - 95,229,253 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0993,534,067 - 93,611,783 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0986,044,485 - 86,129,066 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl986,044,485 - 86,129,329 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0985,794,367 - 85,853,471 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4979,574,062 - 79,634,396 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1979,757,935 - 79,837,198 (-)NCBI
Celera979,070,793 - 79,129,030 (-)NCBICelera
Cytogenetic Map9q34NCBI
Cul3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554539,564,522 - 9,629,976 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554539,546,554 - 9,629,976 (+)NCBIChiLan1.0ChiLan1.0
CUL3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213127,089,437 - 127,200,964 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B127,104,406 - 127,215,480 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B111,714,533 - 111,827,080 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B230,289,195 - 230,373,537 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B230,289,195 - 230,378,991 (-)Ensemblpanpan1.1panPan2
CUL3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12537,730,903 - 37,819,851 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2537,733,229 - 37,800,886 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2538,338,004 - 38,427,804 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02537,967,156 - 38,056,983 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2537,968,235 - 38,057,261 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12537,907,667 - 37,997,226 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02537,748,392 - 37,838,350 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02537,923,140 - 38,012,960 (-)NCBIUU_Cfam_GSD_1.0
Cul3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303179,724,396 - 179,788,614 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365696,065,367 - 6,132,316 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365696,067,230 - 6,131,467 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CUL3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15126,189,851 - 126,287,005 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115126,191,605 - 126,287,148 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215139,621,601 - 139,781,465 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CUL3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110110,425,895 - 110,541,431 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10110,425,076 - 110,541,538 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604088,866,367 - 88,980,363 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cul3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624823766,780 - 852,727 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624823767,347 - 854,065 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CUL3
360 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003590.5(CUL3):c.116dup (p.Asn39fs) duplication not provided [RCV000522638] Chr2:224557806..224557807 [GRCh38]
Chr2:225422523..225422524 [GRCh37]
Chr2:2q36.2
uncertain significance
CUL3, IVS8, A-G, -26 single nucleotide variant Pseudohypoaldosteronism type 2E [RCV000023252] Chr2:2q36 pathogenic
CUL3, IVS8, T-G, -28 single nucleotide variant Pseudohypoaldosteronism type 2E [RCV000023253] Chr2:2q36 pathogenic
CUL3, IVS8, T-G, -12 single nucleotide variant Pseudohypoaldosteronism type 2E [RCV000023254] Chr2:2q36 pathogenic
CUL3, IVS8, T-A, -5 single nucleotide variant Pseudohypoaldosteronism type 2E [RCV000023255] Chr2:2q36 pathogenic
CUL3, IVS8, C-T, -3 single nucleotide variant Pseudohypoaldosteronism type 2E [RCV000023256] Chr2:2q36 pathogenic
CUL3, IVS8, G-A, -1 single nucleotide variant Pseudohypoaldosteronism type 2E [RCV000023257] Chr2:2q36 pathogenic
NM_003590.5(CUL3):c.1238A>G (p.Asp413Gly) single nucleotide variant Pseudohypoaldosteronism type 2A [RCV000128493]|Pseudohypoaldosteronism type 2E [RCV000023258] Chr2:224503791 [GRCh38]
Chr2:225368508 [GRCh37]
Chr2:2q36.2
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1 copy number loss See cases [RCV000052634] Chr2:219081620..225430308 [GRCh38]
Chr2:219946342..226295024 [GRCh37]
Chr2:219654586..226003268 [NCBI36]
Chr2:2q35-36.3
pathogenic
GRCh38/hg38 2q36.1-36.2(chr2:221387419-224669350)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052635]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052635]|See cases [RCV000052635] Chr2:221387419..224669350 [GRCh38]
Chr2:222252139..225534067 [GRCh37]
Chr2:221960383..225242311 [NCBI36]
Chr2:2q36.1-36.2
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3
pathogenic
GRCh38/hg38 2q35-36.3(chr2:219547204-228287942)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|See cases [RCV000052965] Chr2:219547204..228287942 [GRCh38]
Chr2:220411926..229152658 [GRCh37]
Chr2:220120170..228860902 [NCBI36]
Chr2:2q35-36.3
pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3
pathogenic
NM_003590.4(CUL3):c.956C>T (p.Ser319Phe) single nucleotide variant Malignant melanoma [RCV000065430] Chr2:224506931 [GRCh38]
Chr2:225371648 [GRCh37]
Chr2:225079892 [NCBI36]
Chr2:2q36.2
not provided
NM_003590.5(CUL3):c.1376_1377+4del deletion Pseudohypoaldosteronism type 2A [RCV000128495] Chr2:224503648..224503653 [GRCh38]
Chr2:225368365..225368370 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1377G>A (p.Lys459=) single nucleotide variant Pseudohypoaldosteronism type 2A [RCV000256456] Chr2:224503652 [GRCh38]
Chr2:225368369 [GRCh37]
Chr2:2q36.2
pathogenic|likely pathogenic
NM_003590.5(CUL3):c.1207-12T>G single nucleotide variant Pseudohypoaldosteronism type 2A [RCV000128486]|Pseudohypoaldosteronism type 2E [RCV000023254] Chr2:224503834 [GRCh38]
Chr2:225368551 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1207-1G>A single nucleotide variant Pseudohypoaldosteronism type 2A [RCV000128487]|Pseudohypoaldosteronism type 2E [RCV000023257] Chr2:224503823 [GRCh38]
Chr2:225368540 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1207-26A>G single nucleotide variant Pseudohypoaldosteronism type 2A [RCV000128488]|Pseudohypoaldosteronism type 2E [RCV000023252] Chr2:224503848 [GRCh38]
Chr2:225368565 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1207-28T>G single nucleotide variant Pseudohypoaldosteronism type 2A [RCV000128489]|Pseudohypoaldosteronism type 2E [RCV000023253] Chr2:224503850 [GRCh38]
Chr2:225368567 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1207-3C>T single nucleotide variant Pseudohypoaldosteronism type 2A [RCV000128490]|Pseudohypoaldosteronism type 2E [RCV000023256] Chr2:224503825 [GRCh38]
Chr2:225368542 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1207-5T>A single nucleotide variant Pseudohypoaldosteronism type 2A [RCV000128491]|Pseudohypoaldosteronism type 2E [RCV000023255] Chr2:224503827 [GRCh38]
Chr2:225368544 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1236G>A (p.Leu412=) single nucleotide variant Pseudohypoaldosteronism type 2A [RCV000128492] Chr2:224503793 [GRCh38]
Chr2:225368510 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1376A>G (p.Lys459Arg) single nucleotide variant Pseudohypoaldosteronism type 2A [RCV000128494] Chr2:224503653 [GRCh38]
Chr2:225368370 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1377+1dup duplication Pseudohypoaldosteronism type 2A [RCV000128496] Chr2:224503650..224503651 [GRCh38]
Chr2:225368367..225368368 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1377+1G>C single nucleotide variant Pseudohypoaldosteronism type 2A [RCV000128497] Chr2:224503651 [GRCh38]
Chr2:225368368 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1377+3A>G single nucleotide variant Pseudohypoaldosteronism type 2A [RCV000128498] Chr2:224503649 [GRCh38]
Chr2:225368366 [GRCh37]
Chr2:2q36.2
pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q36.2-36.3(chr2:224415921-225227768)x1 copy number loss See cases [RCV000137705] Chr2:224415921..225227768 [GRCh38]
Chr2:225280638..226092485 [GRCh37]
Chr2:224988882..225800729 [NCBI36]
Chr2:2q36.2-36.3
uncertain significance
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3
pathogenic
NM_003590.5(CUL3):c.*2854A>G single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000261371]|Pseudohypoaldosteronism type 2E [RCV001139331] Chr2:224471391 [GRCh38]
Chr2:225336108 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*2653G>A single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000265321]|Pseudohypoaldosteronism type 2E [RCV001139336] Chr2:224471592 [GRCh38]
Chr2:225336309 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.*3531_*3532del deletion Autosomal dominant pseudohypoaldosteronism type 1 [RCV000262890] Chr2:224470713..224470714 [GRCh38]
Chr2:225335430..225335431 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.2029+14T>C single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000393848]|Pseudohypoaldosteronism type 2E [RCV001142070]|Pseudohypoaldosteronism type 2E [RCV002504131]|not provided [RCV002521403] Chr2:224481878 [GRCh38]
Chr2:225346595 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.883+13G>C single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000275661]|Pseudohypoaldosteronism type 2E [RCV001139549]|Pseudohypoaldosteronism type 2E [RCV002488719]|not provided [RCV002521405] Chr2:224511341 [GRCh38]
Chr2:225376058 [GRCh37]
Chr2:2q36.2
benign|likely benign
GRCh37/hg19 2q36.1-36.2(chr2:222902251-226084516) copy number loss Waardenburg syndrome type 1 [RCV002280673] Chr2:222902251..226084516 [GRCh37]
Chr2:2q36.1-36.2
pathogenic
NM_003590.5(CUL3):c.264+9C>T single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000374714]|Pseudohypoaldosteronism type 2E [RCV001139555]|Pseudohypoaldosteronism type 2E [RCV002502296]|not provided [RCV002523118] Chr2:224557650 [GRCh38]
Chr2:225422367 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.*3367T>C single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000283607]|Pseudohypoaldosteronism type 2E [RCV001143656] Chr2:224470878 [GRCh38]
Chr2:225335595 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.*265_*269del deletion Autosomal dominant pseudohypoaldosteronism type 1 [RCV000279462] Chr2:224473976..224473980 [GRCh38]
Chr2:225338693..225338697 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1699G>A (p.Val567Ile) single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000390540]|Pseudohypoaldosteronism type 2E [RCV001142074]|not provided [RCV001597008]|not specified [RCV000241718] Chr2:224497761 [GRCh38]
Chr2:225362478 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.1992A>G (p.Gln664=) single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000307194]|Pseudohypoaldosteronism type 2E [RCV001142071]|not provided [RCV001651178]|not specified [RCV000244884] Chr2:224481929 [GRCh38]
Chr2:225346646 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.1485+13G>A single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000367890]|Pseudohypoaldosteronism type 2E [RCV001137308]|not provided [RCV001618429]|not specified [RCV000249937] Chr2:224502952 [GRCh38]
Chr2:225367669 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.*3736del deletion Autosomal dominant pseudohypoaldosteronism type 1 [RCV000275691] Chr2:224470509 [GRCh38]
Chr2:225335226 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.*1483C>G single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000269017]|Pseudohypoaldosteronism type 2E [RCV001137207] Chr2:224472762 [GRCh38]
Chr2:225337479 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.*2431G>T single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000266548]|Pseudohypoaldosteronism type 2E [RCV001141955] Chr2:224471814 [GRCh38]
Chr2:225336531 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.*1245_*1249del deletion Autosomal dominant pseudohypoaldosteronism type 1 [RCV000272568] Chr2:224472996..224473000 [GRCh38]
Chr2:225337713..225337717 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.*2073A>G single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000298493]|Pseudohypoaldosteronism type 2E [RCV001143761] Chr2:224472172 [GRCh38]
Chr2:225336889 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.693A>C (p.Ser231=) single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000333053]|Pseudohypoaldosteronism type 2E [RCV001139550]|not provided [RCV002521406] Chr2:224511544 [GRCh38]
Chr2:225376261 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.*1872G>C single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000299744]|Pseudohypoaldosteronism type 2E [RCV001143765] Chr2:224472373 [GRCh38]
Chr2:225337090 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.*2037del deletion Autosomal dominant pseudohypoaldosteronism type 1 [RCV000334716] Chr2:224472208 [GRCh38]
Chr2:225336925 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*3672T>C single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000316845]|Pseudohypoaldosteronism type 2E [RCV001143651] Chr2:224470573 [GRCh38]
Chr2:225335290 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.*3463T>C single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000318905]|Pseudohypoaldosteronism type 2E [RCV001143654] Chr2:224470782 [GRCh38]
Chr2:225335499 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.*3148A>G single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000379445]|Pseudohypoaldosteronism type 2E [RCV001137088] Chr2:224471097 [GRCh38]
Chr2:225335814 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.*1934_*1937del deletion Autosomal dominant pseudohypoaldosteronism type 1 [RCV000402998]|not provided [RCV003437069] Chr2:224472308..224472311 [GRCh38]
Chr2:225337025..225337028 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.*1774G>T single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000359242]|Pseudohypoaldosteronism type 2E [RCV001137203] Chr2:224472471 [GRCh38]
Chr2:225337188 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.*2272T>C single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000380730]|Pseudohypoaldosteronism type 2E [RCV001141958]|not provided [RCV002274986] Chr2:224471973 [GRCh38]
Chr2:225336690 [GRCh37]
Chr2:2q36.2
benign|likely benign|uncertain significance
NM_003590.5(CUL3):c.*2912T>C single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000404662]|Pseudohypoaldosteronism type 2E [RCV001137093] Chr2:224471333 [GRCh38]
Chr2:225336050 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.*4088T>C single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000406275]|Pseudohypoaldosteronism type 2E [RCV001139237] Chr2:224470157 [GRCh38]
Chr2:225334874 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.2052C>T (p.Ser684=) single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000342236]|Pseudohypoaldosteronism type 2E [RCV001142069]|Pseudohypoaldosteronism type 2E [RCV002502294]|not provided [RCV000958595] Chr2:224478323 [GRCh38]
Chr2:225343040 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.*2130A>G single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000292532]|Pseudohypoaldosteronism type 2E [RCV001143759]|not provided [RCV002274987] Chr2:224472115 [GRCh38]
Chr2:225336832 [GRCh37]
Chr2:2q36.2
benign|likely benign|uncertain significance
NM_003590.5(CUL3):c.*3156A>G single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000343341]|Pseudohypoaldosteronism type 2E [RCV001137087] Chr2:224471089 [GRCh38]
Chr2:225335806 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.1708-14del deletion Autosomal dominant pseudohypoaldosteronism type 1 [RCV000364306]|not provided [RCV002521404] Chr2:224495980 [GRCh38]
Chr2:225360697 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.*1403A>C single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000364732]|Pseudohypoaldosteronism type 2E [RCV001137208] Chr2:224472842 [GRCh38]
Chr2:225337559 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.*3789C>T single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000364642]|Pseudohypoaldosteronism type 2E [RCV001141859] Chr2:224470456 [GRCh38]
Chr2:225335173 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.*905A>G single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000386608]|Pseudohypoaldosteronism type 2E [RCV001139449] Chr2:224473340 [GRCh38]
Chr2:225338057 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*2192T>C single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000386852]|Pseudohypoaldosteronism type 2E [RCV001143758] Chr2:224472053 [GRCh38]
Chr2:225336770 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.*3026G>A single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000344713]|Pseudohypoaldosteronism type 2E [RCV001137090] Chr2:224471219 [GRCh38]
Chr2:225335936 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*2945G>C single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000309164]|Pseudohypoaldosteronism type 2E [RCV001137091]|not provided [RCV003437068] Chr2:224471300 [GRCh38]
Chr2:225336017 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.*1451AAC[1] microsatellite Autosomal dominant pseudohypoaldosteronism type 1 [RCV000326482] Chr2:224472789..224472791 [GRCh38]
Chr2:225337506..225337508 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*2193G>A single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000346059]|Pseudohypoaldosteronism type 2E [RCV001141960] Chr2:224472052 [GRCh38]
Chr2:225336769 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.*896G>C single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000294725]|Pseudohypoaldosteronism type 2E [RCV001139450] Chr2:224473349 [GRCh38]
Chr2:225338066 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.*3991A>G single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000310083]|Pseudohypoaldosteronism type 2E [RCV001141854] Chr2:224470254 [GRCh38]
Chr2:225334971 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.1581A>T (p.Ala527=) single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000310815]|Pseudohypoaldosteronism type 2E [RCV001137307]|Pseudohypoaldosteronism type 2E [RCV002502295]|not provided [RCV002057672] Chr2:224500392 [GRCh38]
Chr2:225365109 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.*940C>T single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000329801]|Pseudohypoaldosteronism type 2E [RCV001137209] Chr2:224473305 [GRCh38]
Chr2:225338022 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.*3753T>C single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000370481]|Pseudohypoaldosteronism type 2E [RCV001143650] Chr2:224470492 [GRCh38]
Chr2:225335209 [GRCh37]
Chr2:2q36.2
likely benign|uncertain significance
NM_003590.5(CUL3):c.*2863T>G single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000370094]|Pseudohypoaldosteronism type 2E [RCV001139330] Chr2:224471382 [GRCh38]
Chr2:225336099 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.*2923A>C single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000350022]|Pseudohypoaldosteronism type 2E [RCV001137092] Chr2:224471322 [GRCh38]
Chr2:225336039 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.600C>G (p.Val200=) single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000371296]|Pseudohypoaldosteronism type 2E [RCV001139551]|not provided [RCV003765947] Chr2:224513578 [GRCh38]
Chr2:225378295 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.*294A>G single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000371433]|Pseudohypoaldosteronism type 2E [RCV001140225]|not provided [RCV003311765] Chr2:224473951 [GRCh38]
Chr2:225338668 [GRCh37]
Chr2:2q36.2
likely benign|uncertain significance
NM_003590.5(CUL3):c.*3665T>A single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000371517]|Pseudohypoaldosteronism type 2E [RCV001143652] Chr2:224470580 [GRCh38]
Chr2:225335297 [GRCh37]
Chr2:2q36.2
benign|uncertain significance
NM_003590.5(CUL3):c.*89A>T single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000393904]|Pseudohypoaldosteronism type 2E [RCV001140228] Chr2:224474156 [GRCh38]
Chr2:225338873 [GRCh37]
Chr2:2q36.2
likely benign|uncertain significance
NM_003590.5(CUL3):c.*2766G>C single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000297744]|Pseudohypoaldosteronism type 2E [RCV001139333] Chr2:224471479 [GRCh38]
Chr2:225336196 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.310A>T (p.Thr104Ser) single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000260274]|Pseudohypoaldosteronism type 2E [RCV001139553] Chr2:224535596 [GRCh38]
Chr2:225400313 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*3785dup duplication Autosomal dominant pseudohypoaldosteronism type 1 [RCV000274652] Chr2:224470459..224470460 [GRCh38]
Chr2:225335176..225335177 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*2117dup duplication Autosomal dominant pseudohypoaldosteronism type 1 [RCV000352000] Chr2:224472127..224472128 [GRCh38]
Chr2:225336844..225336845 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.*1518A>T single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000265652]|Pseudohypoaldosteronism type 2E [RCV001137204] Chr2:224472727 [GRCh38]
Chr2:225337444 [GRCh37]
Chr2:2q36.2
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_003590.5(CUL3):c.*2195A>G single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000291164]|Pseudohypoaldosteronism type 2E [RCV001141959] Chr2:224472050 [GRCh38]
Chr2:225336767 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*3766G>A single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000329885]|Pseudohypoaldosteronism type 2E [RCV001141860] Chr2:224470479 [GRCh38]
Chr2:225335196 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*1498C>G single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000361376]|Pseudohypoaldosteronism type 2E [RCV001137206] Chr2:224472747 [GRCh38]
Chr2:225337464 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*2469G>C single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000379779]|Pseudohypoaldosteronism type 2E [RCV001141954] Chr2:224471776 [GRCh38]
Chr2:225336493 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*2868T>C single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000315431]|Pseudohypoaldosteronism type 2E [RCV001137094] Chr2:224471377 [GRCh38]
Chr2:225336094 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*1506G>A single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000304374]|Pseudohypoaldosteronism type 2E [RCV001137205] Chr2:224472739 [GRCh38]
Chr2:225337456 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.304C>A (p.Leu102Ile) single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000317737]|Pseudohypoaldosteronism type 2E [RCV001139554] Chr2:224535602 [GRCh38]
Chr2:225400319 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*545A>G single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000333335]|Pseudohypoaldosteronism type 2E [RCV001139456] Chr2:224473700 [GRCh38]
Chr2:225338417 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*2584T>C single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000320410]|Pseudohypoaldosteronism type 2E [RCV001139337] Chr2:224471661 [GRCh38]
Chr2:225336378 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.2102A>T (p.His701Leu) single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000284873]|not provided [RCV002523117] Chr2:224478273 [GRCh38]
Chr2:225342990 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*207G>A single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000336791]|Pseudohypoaldosteronism type 2E [RCV001140226] Chr2:224474038 [GRCh38]
Chr2:225338755 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*2946_*2949del deletion Autosomal dominant pseudohypoaldosteronism type 1 [RCV000408438] Chr2:224471296..224471299 [GRCh38]
Chr2:225336013..225336016 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*2093A>G single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000391035]|Pseudohypoaldosteronism type 2E [RCV001143760] Chr2:224472152 [GRCh38]
Chr2:225336869 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*2424C>T single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000326059]|Pseudohypoaldosteronism type 2E [RCV001141956] Chr2:224471821 [GRCh38]
Chr2:225336538 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*2756G>A single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000357316]|Pseudohypoaldosteronism type 2E [RCV001139334] Chr2:224471489 [GRCh38]
Chr2:225336206 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*3096G>C single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000289627] Chr2:224471149 [GRCh38]
Chr2:225335866 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*3392A>G single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000378183]|Pseudohypoaldosteronism type 2E [RCV001143655] Chr2:224470853 [GRCh38]
Chr2:225335570 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*2851A>C single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001139332] Chr2:224471394 [GRCh38]
Chr2:225336111 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.67-11872T>C single nucleotide variant not provided [RCV001709673]|not specified [RCV000603364] Chr2:224569728 [GRCh38]
Chr2:225434445 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.739C>T (p.Arg247Ter) single nucleotide variant not provided [RCV000627335] Chr2:224511498 [GRCh38]
Chr2:225376215 [GRCh37]
Chr2:2q36.2
pathogenic|likely pathogenic
NM_003590.5(CUL3):c.493_494del (p.Leu165fs) microsatellite Inborn genetic diseases [RCV001266494]|Neurodevelopmental disorder with or without autism or seizures [RCV003147517]|Pseudohypoaldosteronism type 2E [RCV003147516]|not provided [RCV000598968] Chr2:224514657..224514658 [GRCh38]
Chr2:225379374..225379375 [GRCh37]
Chr2:2q36.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3
likely pathogenic
NM_003590.5(CUL3):c.2246T>C (p.Ile749Thr) single nucleotide variant not provided [RCV000722722] Chr2:224474306 [GRCh38]
Chr2:225339023 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1547_1548dup (p.Ala518fs) duplication not provided [RCV000731001] Chr2:224500424..224500425 [GRCh38]
Chr2:225365141..225365142 [GRCh37]
Chr2:2q36.2
uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)x1 copy number loss See cases [RCV000448773] Chr2:223378640..232061074 [GRCh37]
Chr2:2q36.1-37.1
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 copy number gain See cases [RCV000511816] Chr2:222077224..239394441 [GRCh37]
Chr2:2q36.1-37.3
pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_003590.5(CUL3):c.2044G>A (p.Gly682Ser) single nucleotide variant not provided [RCV003327831] Chr2:224478331 [GRCh38]
Chr2:225343048 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1651C>T (p.Gln551Ter) single nucleotide variant Inborn genetic diseases [RCV000624051]|Neurodevelopmental delay [RCV002274077] Chr2:224497809 [GRCh38]
Chr2:225362526 [GRCh37]
Chr2:2q36.2
pathogenic|uncertain significance
NM_003590.5(CUL3):c.428G>A (p.Gly143Glu) single nucleotide variant not provided [RCV003313624] Chr2:224514723 [GRCh38]
Chr2:225379440 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1349del (p.Ser450fs) deletion Neurodevelopmental disorder with or without autism or seizures [RCV003314516] Chr2:224503680 [GRCh38]
Chr2:225368397 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1349_1350del (p.Asp449_Ser450insTer) microsatellite Inborn genetic diseases [RCV000622486]|not provided [RCV002531880] Chr2:224503679..224503680 [GRCh38]
Chr2:225368396..225368397 [GRCh37]
Chr2:2q36.2
pathogenic
GRCh37/hg19 2q35-36.3(chr2:221439250-226170404)x1 copy number loss not provided [RCV000682155] Chr2:221439250..226170404 [GRCh37]
Chr2:2q35-36.3
pathogenic
GRCh37/hg19 2q35-36.2(chr2:220614743-225587770)x1 copy number loss not provided [RCV000682158] Chr2:220614743..225587770 [GRCh37]
Chr2:2q35-36.2
pathogenic
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3
pathogenic
NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys) single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000987041]|NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES [RCV001352922]|not provided [RCV000677281] Chr2:224557750 [GRCh38]
Chr2:225422467 [GRCh37]
Chr2:2q36.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 copy number loss not provided [RCV000682163] Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_003590.5(CUL3):c.532G>A (p.Val178Ile) single nucleotide variant Inborn genetic diseases [RCV003246977]|Pseudohypoaldosteronism type 2E [RCV002495859]|not provided [RCV001531349] Chr2:224514619 [GRCh38]
Chr2:225379336 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1378-206G>A single nucleotide variant not provided [RCV001666860] Chr2:224503278 [GRCh38]
Chr2:225367995 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.582T>C (p.Gly194=) single nucleotide variant not provided [RCV000938989] Chr2:224513596 [GRCh38]
Chr2:225378313 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1843-248A>T single nucleotide variant not provided [RCV001641584] Chr2:224482326 [GRCh38]
Chr2:225347043 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.1894C>T (p.Gln632Ter) single nucleotide variant not provided [RCV003312523] Chr2:224482027 [GRCh38]
Chr2:225346744 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1552G>A (p.Ala518Thr) single nucleotide variant not provided [RCV003312524] Chr2:224500421 [GRCh38]
Chr2:225365138 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1499G>A (p.Gly500Asp) single nucleotide variant NK-cell enteropathy [RCV000791308] Chr2:224500474 [GRCh38]
Chr2:225365191 [GRCh37]
Chr2:2q36.2
likely pathogenic
GRCh37/hg19 2q36.2(chr2:225324757-225458933)x3 copy number gain not provided [RCV000847947] Chr2:225324757..225458933 [GRCh37]
Chr2:2q36.2
uncertain significance
GRCh37/hg19 2q36.2(chr2:225324757-225458933)x3 copy number gain not provided [RCV000847949] Chr2:225324757..225458933 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1028A>G (p.Gln343Arg) single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001137313]|Pseudohypoaldosteronism type 2E [RCV002482260] Chr2:224506859 [GRCh38]
Chr2:225371576 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1462A>C (p.Arg488=) single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001137309] Chr2:224502988 [GRCh38]
Chr2:225367705 [GRCh37]
Chr2:2q36.2
uncertain significance
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787404] Chr2:225317517..226707110 [GRCh37]
Chr2:2q36.2-36.3
pathogenic
GRCh37/hg19 2q36.2(chr2:225376071-225379489)x1 copy number loss not provided [RCV000997727] Chr2:225376071..225379489 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*2689T>C single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001139335] Chr2:224471556 [GRCh38]
Chr2:225336273 [GRCh37]
Chr2:2q36.2
uncertain significance
GRCh37/hg19 2q36.1-36.3(chr2:225053410-227018472)x1 copy number loss not provided [RCV000845760] Chr2:225053410..227018472 [GRCh37]
Chr2:2q36.1-36.3
pathogenic
NM_003590.5(CUL3):c.*1943A>T single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001143763] Chr2:224472302 [GRCh38]
Chr2:225337019 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*1883T>C single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001143764] Chr2:224472362 [GRCh38]
Chr2:225337079 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*3973T>A single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001141855] Chr2:224470272 [GRCh38]
Chr2:225334989 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.*2553A>G single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001141953] Chr2:224471692 [GRCh38]
Chr2:225336409 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*84C>T single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001142068] Chr2:224474161 [GRCh38]
Chr2:225338878 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1647A>G (p.Thr549=) single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001142075]|not provided [RCV002559376] Chr2:224497813 [GRCh38]
Chr2:225362530 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.883+3_883+6del deletion Autism spectrum disorder [RCV003127302] Chr2:224511348..224511351 [GRCh38]
Chr2:225376065..225376068 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.391G>A (p.Val131Ile) single nucleotide variant not provided [RCV003234319] Chr2:224514760 [GRCh38]
Chr2:225379477 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.2214A>G (p.Pro738=) single nucleotide variant not provided [RCV003106674] Chr2:224474338 [GRCh38]
Chr2:225339055 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1289G>A (p.Arg430His) single nucleotide variant CUL3-related condition [RCV003393031] Chr2:224503740 [GRCh38]
Chr2:225368457 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1610+143A>G single nucleotide variant not provided [RCV001638638] Chr2:224500220 [GRCh38]
Chr2:225364937 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.265-157A>T single nucleotide variant not provided [RCV001713665] Chr2:224535798 [GRCh38]
Chr2:225400515 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.1611-107CA[11] microsatellite not provided [RCV001688452] Chr2:224497936..224497937 [GRCh38]
Chr2:225362653..225362654 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.1377+48T>C single nucleotide variant not provided [RCV001709027] Chr2:224503604 [GRCh38]
Chr2:225368321 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.264+136del deletion not provided [RCV001621351] Chr2:224557523 [GRCh38]
Chr2:225422240 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.433_436del (p.Ile145fs) microsatellite not provided [RCV001550997] Chr2:224514715..224514718 [GRCh38]
Chr2:225379432..225379435 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.883+39C>G single nucleotide variant not provided [RCV001685893] Chr2:224511315 [GRCh38]
Chr2:225376032 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.2030-155_2030-154insTAAA insertion not provided [RCV001670558] Chr2:224478499..224478500 [GRCh38]
Chr2:225343216..225343217 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.540-31_540-28del deletion not provided [RCV001686220] Chr2:224513666..224513669 [GRCh38]
Chr2:225378383..225378386 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.2176-99_2176-98insTTACT insertion not provided [RCV001695136] Chr2:224474474..224474475 [GRCh38]
Chr2:225339191..225339192 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.1843-9A>C single nucleotide variant not provided [RCV000955305] Chr2:224482087 [GRCh38]
Chr2:225346804 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.539+4A>G single nucleotide variant not provided [RCV000895232] Chr2:224514608 [GRCh38]
Chr2:225379325 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.*499T>C single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001140223] Chr2:224473746 [GRCh38]
Chr2:225338463 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*124C>T single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001140227] Chr2:224474121 [GRCh38]
Chr2:225338838 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.-7G>A single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001140313] Chr2:224585016 [GRCh38]
Chr2:225449733 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.-118C>G single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001140315] Chr2:224585127 [GRCh38]
Chr2:225449844 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.-289G>A single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001142164]|not provided [RCV003433030] Chr2:224585298 [GRCh38]
Chr2:225450015 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.*736A>G single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001139454] Chr2:224473509 [GRCh38]
Chr2:225338226 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1611-232T>C single nucleotide variant not provided [RCV001689203] Chr2:224498081 [GRCh38]
Chr2:225362798 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.17A>G (p.Lys6Arg) single nucleotide variant not provided [RCV002467086] Chr2:224584993 [GRCh38]
Chr2:225449710 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.2092G>A (p.Asp698Asn) single nucleotide variant Neurodevelopmental disorder with or without autism or seizures [RCV002471518]|not provided [RCV002571455] Chr2:224478283 [GRCh38]
Chr2:225343000 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1708-292A>G single nucleotide variant not provided [RCV001675012] Chr2:224496258 [GRCh38]
Chr2:225360975 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.2029+232T>C single nucleotide variant not provided [RCV001621646] Chr2:224481660 [GRCh38]
Chr2:225346377 [GRCh37]
Chr2:2q36.2
benign
NC_000002.12:g.224585652G>T single nucleotide variant not provided [RCV001657343] Chr2:224585652 [GRCh38]
Chr2:225450369 [GRCh37]
Chr2:2q36.2
benign
NC_000002.12:g.224585444G>C single nucleotide variant not provided [RCV001714950] Chr2:224585444 [GRCh38]
Chr2:225450161 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.1636C>T (p.Arg546Ter) single nucleotide variant Autism spectrum disorder [RCV003127994]|Neurodevelopmental disorder with or without autism or seizures [RCV002290728]|not provided [RCV001593457] Chr2:224497824 [GRCh38]
Chr2:225362541 [GRCh37]
Chr2:2q36.2
pathogenic|likely pathogenic
NM_003590.5(CUL3):c.1206+119G>T single nucleotide variant not provided [RCV001714955] Chr2:224505837 [GRCh38]
Chr2:225370554 [GRCh37]
Chr2:2q36.2
benign
NC_000002.12:g.224585651G>C single nucleotide variant not provided [RCV001635765] Chr2:224585651 [GRCh38]
Chr2:225450368 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.*3922A>G single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001141857] Chr2:224470323 [GRCh38]
Chr2:225335040 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*2341G>C single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001141957] Chr2:224471904 [GRCh38]
Chr2:225336621 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1902C>T (p.Leu634=) single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001142072] Chr2:224482019 [GRCh38]
Chr2:225346736 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.-220C>T single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001142161] Chr2:224585229 [GRCh38]
Chr2:225449946 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.*915A>G single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001137210] Chr2:224473330 [GRCh38]
Chr2:225338047 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*790T>G single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001139451] Chr2:224473455 [GRCh38]
Chr2:225338172 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*664T>G single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001139455] Chr2:224473581 [GRCh38]
Chr2:225338298 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.543C>T (p.Gly181=) single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001139552]|Pseudohypoaldosteronism type 2E [RCV002497550]|not provided [RCV003558703] Chr2:224513635 [GRCh38]
Chr2:225378352 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.-143G>A single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001140317] Chr2:224585152 [GRCh38]
Chr2:225449869 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.-143G>C single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001140316] Chr2:224585152 [GRCh38]
Chr2:225449869 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.-246C>T single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001142162]|not provided [RCV003433029] Chr2:224585255 [GRCh38]
Chr2:225449972 [GRCh37]
Chr2:2q36.2
likely benign|uncertain significance
NM_003590.5(CUL3):c.-317C>A single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001142166] Chr2:224585326 [GRCh38]
Chr2:225450043 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.-169C>T single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001140318] Chr2:224585178 [GRCh38]
Chr2:225449895 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.-173G>C single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001140319] Chr2:224585182 [GRCh38]
Chr2:225449899 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.264+295del deletion not provided [RCV001693183] Chr2:224557364 [GRCh38]
Chr2:225422081 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.2030-146C>T single nucleotide variant not provided [RCV001691129] Chr2:224478491 [GRCh38]
Chr2:225343208 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.883+177C>T single nucleotide variant not provided [RCV001695306] Chr2:224511177 [GRCh38]
Chr2:225375894 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.67-11683G>C single nucleotide variant not provided [RCV001649047] Chr2:224569539 [GRCh38]
Chr2:225434256 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.379-244A>G single nucleotide variant not provided [RCV001678645] Chr2:224515016 [GRCh38]
Chr2:225379733 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.378+54_378+59del microsatellite not provided [RCV001680940] Chr2:224535469..224535474 [GRCh38]
Chr2:225400186..225400191 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.1486-141del deletion not provided [RCV001725354] Chr2:224500628 [GRCh38]
Chr2:225365345 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.1377+275C>A single nucleotide variant not provided [RCV001666569] Chr2:224503377 [GRCh38]
Chr2:225368094 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.883+37C>T single nucleotide variant not provided [RCV001645573] Chr2:224511317 [GRCh38]
Chr2:225376034 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.*3134A>T single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001137089] Chr2:224471111 [GRCh38]
Chr2:225335828 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1293T>C (p.Tyr431=) single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001137311] Chr2:224503736 [GRCh38]
Chr2:225368453 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1036T>C (p.Leu346=) single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001137312]|not provided [RCV002556921] Chr2:224506126 [GRCh38]
Chr2:225370843 [GRCh37]
Chr2:2q36.2
likely benign|uncertain significance
NM_003590.5(CUL3):c.1401G>A (p.Thr467=) single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001137310]|not provided [RCV002556920] Chr2:224503049 [GRCh38]
Chr2:225367766 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.884-5T>C single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001137314] Chr2:224507008 [GRCh38]
Chr2:225371725 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*3958C>T single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001141856] Chr2:224470287 [GRCh38]
Chr2:225335004 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*3810C>T single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001141858] Chr2:224470435 [GRCh38]
Chr2:225335152 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.-291A>T single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001142165] Chr2:224585300 [GRCh38]
Chr2:225450017 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*784G>A single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001139452] Chr2:224473461 [GRCh38]
Chr2:225338178 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*3596A>G single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001143653] Chr2:224470649 [GRCh38]
Chr2:225335366 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1549_1552del (p.Ser517fs) microsatellite Abnormal cardiovascular system morphology [RCV002463785]|not provided [RCV001171551] Chr2:224500421..224500424 [GRCh38]
Chr2:225365138..225365141 [GRCh37]
Chr2:2q36.2
pathogenic|likely pathogenic
NM_003590.5(CUL3):c.-201C>G single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001142160] Chr2:224585210 [GRCh38]
Chr2:225449927 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.-270G>A single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001142163] Chr2:224585279 [GRCh38]
Chr2:225449996 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*540G>A single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001140221] Chr2:224473705 [GRCh38]
Chr2:225338422 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*527A>G single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001140222] Chr2:224473718 [GRCh38]
Chr2:225338435 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.*496A>T single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001140224] Chr2:224473749 [GRCh38]
Chr2:225338466 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.-51C>T single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001140314] Chr2:224585060 [GRCh38]
Chr2:225449777 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.-185G>C single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001140320] Chr2:224585194 [GRCh38]
Chr2:225449911 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1708-14T>A single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001142073]|not provided [RCV002557022] Chr2:224495980 [GRCh38]
Chr2:225360697 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.*782G>T single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001139453] Chr2:224473463 [GRCh38]
Chr2:225338180 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.21C>T (p.Gly7=) single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001139556]|not provided [RCV003565467] Chr2:224584989 [GRCh38]
Chr2:225449706 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.*2008G>T single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001143762] Chr2:224472237 [GRCh38]
Chr2:225336954 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1358dup (p.Asn453fs) duplication Neurodevelopmental disorder with or without autism or seizures [RCV003151844]|Pseudohypoaldosteronism type 2E [RCV001251184] Chr2:224503670..224503671 [GRCh38]
Chr2:225368387..225368388 [GRCh37]
Chr2:2q36.2
likely pathogenic|uncertain significance
NM_003590.5(CUL3):c.743_744dup (p.Met249Ter) duplication Intellectual disability [RCV001252214] Chr2:224511492..224511493 [GRCh38]
Chr2:225376209..225376210 [GRCh37]
Chr2:2q36.2
likely pathogenic
NM_003590.5(CUL3):c.641C>G (p.Ala214Gly) single nucleotide variant Pseudohypoaldosteronism type 2E [RCV001253061] Chr2:224513537 [GRCh38]
Chr2:225378254 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.602_603dup (p.Glu202fs) duplication Intellectual disability [RCV001260753] Chr2:224513574..224513575 [GRCh38]
Chr2:225378291..225378292 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1445_1446del (p.Thr482fs) microsatellite Intellectual disability [RCV001260629] Chr2:224503004..224503005 [GRCh38]
Chr2:225367721..225367722 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.827_828del (p.Ile276fs) microsatellite Neurodevelopmental abnormality [RCV001264679] Chr2:224511409..224511410 [GRCh38]
Chr2:225376126..225376127 [GRCh37]
Chr2:2q36.2
likely pathogenic
NM_003590.5(CUL3):c.883+1G>A single nucleotide variant not provided [RCV001268542] Chr2:224511353 [GRCh38]
Chr2:225376070 [GRCh37]
Chr2:2q36.2
likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
NM_003590.5(CUL3):c.805_850dup (p.Leu284fs) duplication not provided [RCV001268191] Chr2:224511386..224511387 [GRCh38]
Chr2:225376103..225376104 [GRCh37]
Chr2:2q36.2
likely pathogenic
NM_003590.5(CUL3):c.1386del (p.Cys462fs) deletion not provided [RCV001268449] Chr2:224503064 [GRCh38]
Chr2:225367781 [GRCh37]
Chr2:2q36.2
likely pathogenic
NM_003590.5(CUL3):c.2175+1G>C single nucleotide variant not provided [RCV001268756] Chr2:224478199 [GRCh38]
Chr2:225342916 [GRCh37]
Chr2:2q36.2
likely pathogenic
NM_003590.5(CUL3):c.854T>C (p.Val285Ala) single nucleotide variant Neurodevelopmental disorder without autism with seizures [RCV001352924] Chr2:224511383 [GRCh38]
Chr2:225376100 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.137del (p.Arg46fs) deletion Neurodevelopmental disorder without autism with seizures [RCV001352925] Chr2:224557786 [GRCh38]
Chr2:225422503 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1239del (p.Asp413fs) deletion NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES [RCV001352926] Chr2:224503790 [GRCh38]
Chr2:225368507 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1758_1759insTG (p.Thr587Ter) AND NEURODEVELOPMENTAL DISORDER WITH AUTISM insertion NEURODEVELOPMENTAL DISORDER WITH AUTISM AND SEIZURES [RCV001352927] Chr2:224495915..224495916 [GRCh38]
Chr2:225360632..225360633 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.67-11876C>G single nucleotide variant not provided [RCV001356186] Chr2:224569732 [GRCh38]
Chr2:225434449 [GRCh37]
Chr2:2q36.2
uncertain significance
GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1 copy number loss not provided [RCV001537914] Chr2:220056891..227164817 [GRCh37]
Chr2:2q35-36.3
pathogenic
NM_003590.5(CUL3):c.596C>G (p.Ser199Ter) single nucleotide variant NEURODEVELOPMENTAL DISORDER WITH AUTISM WITHOUT SEIZURES [RCV001352923] Chr2:224513582 [GRCh38]
Chr2:225378299 [GRCh37]
Chr2:2q36.2
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_003590.5(CUL3):c.264+1G>C single nucleotide variant not provided [RCV001780900] Chr2:224557658 [GRCh38]
Chr2:225422375 [GRCh37]
Chr2:2q36.2
likely pathogenic
NM_003590.5(CUL3):c.1708-297A>G single nucleotide variant not provided [RCV001535134] Chr2:224496263 [GRCh38]
Chr2:225360980 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.540-147del deletion not provided [RCV001654760] Chr2:224513785 [GRCh38]
Chr2:225378502 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.1708-302A>G single nucleotide variant not provided [RCV001684631] Chr2:224496268 [GRCh38]
Chr2:225360985 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.383G>A (p.Arg128His) single nucleotide variant Neurodevelopmental disorder with or without autism or seizures [RCV001779291]|not provided [RCV001665422] Chr2:224514768 [GRCh38]
Chr2:225379485 [GRCh37]
Chr2:2q36.2
pathogenic|likely pathogenic|uncertain significance
NM_003590.5(CUL3):c.2175+320T>A single nucleotide variant not provided [RCV001611777] Chr2:224477880 [GRCh38]
Chr2:225342597 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.1610+24T>C single nucleotide variant not provided [RCV001686935] Chr2:224500339 [GRCh38]
Chr2:225365056 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.1486-157dup duplication not provided [RCV001674303] Chr2:224500627..224500628 [GRCh38]
Chr2:225365344..225365345 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.1378-207G>C single nucleotide variant not provided [RCV001540989] Chr2:224503279 [GRCh38]
Chr2:225367996 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.998_1000del (p.Gly333del) deletion not provided [RCV001727185] Chr2:224506887..224506889 [GRCh38]
Chr2:225371604..225371606 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.396A>G (p.Gln132=) single nucleotide variant not provided [RCV003108726] Chr2:224514755 [GRCh38]
Chr2:225379472 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.223A>C (p.Thr75Pro) single nucleotide variant not provided [RCV001730440] Chr2:224557700 [GRCh38]
Chr2:225422417 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.477del (p.His160fs) deletion not provided [RCV001727186] Chr2:224514674 [GRCh38]
Chr2:225379391 [GRCh37]
Chr2:2q36.2
likely pathogenic
NM_003590.5(CUL3):c.562C>T (p.Gln188Ter) single nucleotide variant Neurodevelopmental disorder [RCV001780015] Chr2:224513616 [GRCh38]
Chr2:225378333 [GRCh37]
Chr2:2q36.2
likely pathogenic
NM_003590.5(CUL3):c.578T>G (p.Leu193Ter) single nucleotide variant Complex neurodevelopmental disorder [RCV002272969] Chr2:224513600 [GRCh38]
Chr2:225378317 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.2242del (p.Ile749fs) deletion not provided [RCV001772709] Chr2:224474310 [GRCh38]
Chr2:225339027 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1388G>A (p.Gly463Glu) single nucleotide variant not provided [RCV001771421] Chr2:224503062 [GRCh38]
Chr2:225367779 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1248G>A (p.Met416Ile) single nucleotide variant not provided [RCV001765672] Chr2:224503781 [GRCh38]
Chr2:225368498 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.964dup (p.Arg322fs) duplication not provided [RCV001752552] Chr2:224506922..224506923 [GRCh38]
Chr2:225371639..225371640 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1843-3C>A single nucleotide variant not provided [RCV001751847] Chr2:224482081 [GRCh38]
Chr2:225346798 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1559C>T (p.Pro520Leu) single nucleotide variant not provided [RCV001761241] Chr2:224500414 [GRCh38]
Chr2:225365131 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.655-2A>G single nucleotide variant not provided [RCV001752864] Chr2:224511584 [GRCh38]
Chr2:225376301 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1206+1G>T single nucleotide variant Neurodevelopmental disorder with or without autism or seizures [RCV003151873]|not provided [RCV001970030] Chr2:224505955 [GRCh38]
Chr2:225370672 [GRCh37]
Chr2:2q36.2
pathogenic|uncertain significance
GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074) copy number loss not specified [RCV002053287] Chr2:223378640..232061074 [GRCh37]
Chr2:2q36.1-37.1
pathogenic
NM_003590.5(CUL3):c.1108A>C (p.Ile370Leu) single nucleotide variant not provided [RCV001927334] Chr2:224506054 [GRCh38]
Chr2:225370771 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.74T>C (p.Met25Thr) single nucleotide variant not provided [RCV001847461] Chr2:224557849 [GRCh38]
Chr2:225422566 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.514dup (p.Glu172fs) duplication not provided [RCV002007336] Chr2:224514636..224514637 [GRCh38]
Chr2:225379353..225379354 [GRCh37]
Chr2:2q36.2
pathogenic
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3
pathogenic
NC_000002.11:g.(?_224623432)_(225449726_?)dup duplication not provided [RCV001962369] Chr2:224623432..225449726 [GRCh37]
Chr2:2q36.1-36.2
uncertain significance
NM_003590.5(CUL3):c.66+5_66+10del deletion not provided [RCV001884937] Chr2:224584934..224584939 [GRCh38]
Chr2:225449651..225449656 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.883+1G>T single nucleotide variant not provided [RCV001997333] Chr2:224511353 [GRCh38]
Chr2:225376070 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1030-6T>C single nucleotide variant Inborn genetic diseases [RCV003070586]|not provided [RCV002118735] Chr2:224506138 [GRCh38]
Chr2:225370855 [GRCh37]
Chr2:2q36.2
likely benign|uncertain significance
NC_000002.11:g.(?_225400225)_(225400378_?)del deletion not provided [RCV003113288] Chr2:225400225..225400378 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1209A>G (p.Leu403=) single nucleotide variant not provided [RCV003117952] Chr2:224503820 [GRCh38]
Chr2:225368537 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.531_533del (p.Val178del) deletion not provided [RCV003123309] Chr2:224514618..224514620 [GRCh38]
Chr2:225379335..225379337 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.483A>G (p.Leu161=) single nucleotide variant not provided [RCV003121068] Chr2:224514668 [GRCh38]
Chr2:225379385 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.2120T>C (p.Ile707Thr) single nucleotide variant not provided [RCV003149217] Chr2:224478255 [GRCh38]
Chr2:225342972 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1629_1630del (p.His543fs) microsatellite Neurodevelopmental disorder with or without autism or seizures [RCV003147920]|Pseudohypoaldosteronism type 2E [RCV003147919] Chr2:224497830..224497831 [GRCh38]
Chr2:225362547..225362548 [GRCh37]
Chr2:2q36.2
likely pathogenic
NM_003590.5(CUL3):c.185A>G (p.Tyr62Cys) single nucleotide variant not provided [RCV003129139] Chr2:224557738 [GRCh38]
Chr2:225422455 [GRCh37]
Chr2:2q36.2
likely pathogenic
NM_003590.5(CUL3):c.563A>G (p.Gln188Arg) single nucleotide variant Neurodevelopmental disorder with or without autism or seizures [RCV002227684]|Pseudohypoaldosteronism type 2E [RCV002505889]|not provided [RCV003089222] Chr2:224513615 [GRCh38]
Chr2:225378332 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1538G>A (p.Trp513Ter) single nucleotide variant Neurodevelopmental disorder with or without autism or seizures [RCV003151940] Chr2:224500435 [GRCh38]
Chr2:225365152 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.485G>C (p.Arg162Pro) single nucleotide variant not provided [RCV003235817] Chr2:224514666 [GRCh38]
Chr2:225379383 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1294T>G (p.Tyr432Asp) single nucleotide variant not provided [RCV002274777] Chr2:224503735 [GRCh38]
Chr2:225368452 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1035_1036dup (p.Leu346fs) duplication Neurodevelopmental disorder with or without autism or seizures [RCV002288285] Chr2:224506125..224506126 [GRCh38]
Chr2:225370842..225370843 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.*669T>C single nucleotide variant not provided [RCV002293043] Chr2:224473576 [GRCh38]
Chr2:225338293 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.909dup (p.Ser304Ter) duplication Neurodevelopmental disorder with or without autism or seizures [RCV002289085] Chr2:224506977..224506978 [GRCh38]
Chr2:225371694..225371695 [GRCh37]
Chr2:2q36.2
likely pathogenic
NM_003590.5(CUL3):c.475G>A (p.Asp159Asn) single nucleotide variant not provided [RCV003156712] Chr2:224514676 [GRCh38]
Chr2:225379393 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.652C>T (p.Gln218Ter) single nucleotide variant Neurodevelopmental disorder with or without autism or seizures [RCV002470226] Chr2:224513526 [GRCh38]
Chr2:225378243 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.264+2T>G single nucleotide variant Neurodevelopmental disorder with or without autism or seizures [RCV002468694] Chr2:224557657 [GRCh38]
Chr2:225422374 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.908T>G (p.Phe303Cys) single nucleotide variant not provided [RCV003128992] Chr2:224506979 [GRCh38]
Chr2:225371696 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1377+1G>A single nucleotide variant CUL3-Related Disorders [RCV002302501]|not provided [RCV003318717] Chr2:224503651 [GRCh38]
Chr2:225368368 [GRCh37]
Chr2:2q36.2
pathogenic|likely pathogenic
NM_003590.5(CUL3):c.1849C>G (p.Gln617Glu) single nucleotide variant Inborn genetic diseases [RCV002749519] Chr2:224482072 [GRCh38]
Chr2:225346789 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1058A>C (p.Asp353Ala) single nucleotide variant not provided [RCV002881365] Chr2:224506104 [GRCh38]
Chr2:225370821 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.2175+2_2175+3dup duplication not provided [RCV002462769] Chr2:224478196..224478197 [GRCh38]
Chr2:225342913..225342914 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.796A>C (p.Arg266=) single nucleotide variant not provided [RCV002967770] Chr2:224511441 [GRCh38]
Chr2:225376158 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.812A>G (p.Lys271Arg) single nucleotide variant not provided [RCV003095479] Chr2:224511425 [GRCh38]
Chr2:225376142 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.2138C>G (p.Ser713Cys) single nucleotide variant not provided [RCV002842018] Chr2:224478237 [GRCh38]
Chr2:225342954 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.622C>A (p.Pro208Thr) single nucleotide variant not provided [RCV002690367] Chr2:224513556 [GRCh38]
Chr2:225378273 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.443G>A (p.Arg148Gln) single nucleotide variant not provided [RCV003011767] Chr2:224514708 [GRCh38]
Chr2:225379425 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.312G>A (p.Thr104=) single nucleotide variant not provided [RCV002971693] Chr2:224535594 [GRCh38]
Chr2:225400311 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.458G>A (p.Arg153His) single nucleotide variant not provided [RCV003011948] Chr2:224514693 [GRCh38]
Chr2:225379410 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.442C>T (p.Arg148Ter) single nucleotide variant not provided [RCV002991360] Chr2:224514709 [GRCh38]
Chr2:225379426 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.768G>A (p.Thr256=) single nucleotide variant not provided [RCV003074632] Chr2:224511469 [GRCh38]
Chr2:225376186 [GRCh37]
Chr2:2q36.2
benign|likely benign
NM_003590.5(CUL3):c.76G>T (p.Asp26Tyr) single nucleotide variant not provided [RCV002880228] Chr2:224557847 [GRCh38]
Chr2:225422564 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1610+15G>C single nucleotide variant not provided [RCV002614252] Chr2:224500348 [GRCh38]
Chr2:225365065 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.117_118del (p.Ala40fs) deletion not provided [RCV003095838] Chr2:224557805..224557806 [GRCh38]
Chr2:225422522..225422523 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.696A>G (p.Val232=) single nucleotide variant not provided [RCV002512021] Chr2:224511541 [GRCh38]
Chr2:225376258 [GRCh37]
Chr2:2q36.2
conflicting interpretations of pathogenicity|uncertain significance
NM_003590.5(CUL3):c.1358del (p.Asn453fs) deletion not provided [RCV002618025] Chr2:224503671 [GRCh38]
Chr2:225368388 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.264+12dup duplication not provided [RCV002572110] Chr2:224557646..224557647 [GRCh38]
Chr2:225422363..225422364 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.2030-19G>A single nucleotide variant not provided [RCV002621846] Chr2:224478364 [GRCh38]
Chr2:225343081 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.44A>G (p.Lys15Arg) single nucleotide variant not provided [RCV003080110] Chr2:224584966 [GRCh38]
Chr2:225449683 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.24G>C (p.Thr8=) single nucleotide variant not provided [RCV002619626] Chr2:224584986 [GRCh38]
Chr2:225449703 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1206+3_1206+4insTAC insertion not provided [RCV002823968] Chr2:224505952..224505953 [GRCh38]
Chr2:225370669..225370670 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1708-13A>T single nucleotide variant not provided [RCV002569662] Chr2:224495979 [GRCh38]
Chr2:225360696 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1485+7T>G single nucleotide variant not provided [RCV002952502] Chr2:224502958 [GRCh38]
Chr2:225367675 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.1725T>A (p.Val575=) single nucleotide variant not provided [RCV003002078] Chr2:224495949 [GRCh38]
Chr2:225360666 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1056C>T (p.Phe352=) single nucleotide variant not provided [RCV002909966] Chr2:224506106 [GRCh38]
Chr2:225370823 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.540-5G>A single nucleotide variant Inborn genetic diseases [RCV002692403] Chr2:224513643 [GRCh38]
Chr2:225378360 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.268C>T (p.Arg90Ter) single nucleotide variant not provided [RCV002509922] Chr2:224535638 [GRCh38]
Chr2:225400355 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1043T>C (p.Leu348Pro) single nucleotide variant not provided [RCV002867894] Chr2:224506119 [GRCh38]
Chr2:225370836 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.480T>C (p.His160=) single nucleotide variant not provided [RCV002639249] Chr2:224514671 [GRCh38]
Chr2:225379388 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1630_1648dup (p.Leu550fs) duplication not provided [RCV002871038] Chr2:224497811..224497812 [GRCh38]
Chr2:225362528..225362529 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1740A>G (p.Ala580=) single nucleotide variant not provided [RCV002570897] Chr2:224495934 [GRCh38]
Chr2:225360651 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.2176-20C>G single nucleotide variant not provided [RCV002695742] Chr2:224474396 [GRCh38]
Chr2:225339113 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1637G>A (p.Arg546Gln) single nucleotide variant not provided [RCV002710326] Chr2:224497823 [GRCh38]
Chr2:225362540 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1609A>G (p.Arg537Gly) single nucleotide variant not provided [RCV003025532] Chr2:224500364 [GRCh38]
Chr2:225365081 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.826A>G (p.Ile276Val) single nucleotide variant not provided [RCV003085930] Chr2:224511411 [GRCh38]
Chr2:225376128 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1134C>T (p.Leu378=) single nucleotide variant not provided [RCV002786770] Chr2:224506028 [GRCh38]
Chr2:225370745 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.227G>C (p.Gly76Ala) single nucleotide variant not provided [RCV003055930] Chr2:224557696 [GRCh38]
Chr2:225422413 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1893dup (p.Gln632fs) duplication not provided [RCV002829797] Chr2:224482027..224482028 [GRCh38]
Chr2:225346744..225346745 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1864A>G (p.Ile622Val) single nucleotide variant Inborn genetic diseases [RCV002830296] Chr2:224482057 [GRCh38]
Chr2:225346774 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1061G>A (p.Arg354His) single nucleotide variant not provided [RCV002642312] Chr2:224506101 [GRCh38]
Chr2:225370818 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1207-5T>G single nucleotide variant not provided [RCV002852322] Chr2:224503827 [GRCh38]
Chr2:225368544 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.539+12_539+15del microsatellite not provided [RCV002790080] Chr2:224514597..224514600 [GRCh38]
Chr2:225379314..225379317 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.415G>A (p.Val139Ile) single nucleotide variant not provided [RCV003025720] Chr2:224514736 [GRCh38]
Chr2:225379453 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.696A>T (p.Val232=) single nucleotide variant not provided [RCV002574108] Chr2:224511541 [GRCh38]
Chr2:225376258 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1306T>G (p.Leu436Val) single nucleotide variant not provided [RCV002625535] Chr2:224503723 [GRCh38]
Chr2:225368440 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1146C>A (p.Ser382=) single nucleotide variant not provided [RCV002894130] Chr2:224506016 [GRCh38]
Chr2:225370733 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.423T>C (p.Asn141=) single nucleotide variant not provided [RCV002745392] Chr2:224514728 [GRCh38]
Chr2:225379445 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.66+16G>C single nucleotide variant not provided [RCV002596902] Chr2:224584928 [GRCh38]
Chr2:225449645 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.883+14A>G single nucleotide variant not provided [RCV002711971] Chr2:224511340 [GRCh38]
Chr2:225376057 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.379-11T>G single nucleotide variant not provided [RCV002631312] Chr2:224514783 [GRCh38]
Chr2:225379500 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1590T>G (p.His530Gln) single nucleotide variant Inborn genetic diseases [RCV002812552] Chr2:224500383 [GRCh38]
Chr2:225365100 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.539+5A>G single nucleotide variant not provided [RCV003047788] Chr2:224514607 [GRCh38]
Chr2:225379324 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1893A>G (p.Leu631=) single nucleotide variant not provided [RCV002599691] Chr2:224482028 [GRCh38]
Chr2:225346745 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1448C>T (p.Thr483Met) single nucleotide variant not provided [RCV002937595] Chr2:224503002 [GRCh38]
Chr2:225367719 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.115A>C (p.Asn39His) single nucleotide variant not provided [RCV003087072] Chr2:224557808 [GRCh38]
Chr2:225422525 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.2285A>G (p.Lys762Arg) single nucleotide variant not provided [RCV002630585] Chr2:224474267 [GRCh38]
Chr2:225338984 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.67-10G>A single nucleotide variant not provided [RCV002579338] Chr2:224557866 [GRCh38]
Chr2:225422583 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1486-3T>A single nucleotide variant not provided [RCV003089324] Chr2:224500490 [GRCh38]
Chr2:225365207 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.2030-3T>C single nucleotide variant not provided [RCV002577994] Chr2:224478348 [GRCh38]
Chr2:225343065 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.137G>A (p.Arg46His) single nucleotide variant not provided [RCV002598952] Chr2:224557786 [GRCh38]
Chr2:225422503 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1091G>A (p.Arg364His) single nucleotide variant not provided [RCV002627587] Chr2:224506071 [GRCh38]
Chr2:225370788 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.2196G>C (p.Ala732=) single nucleotide variant not provided [RCV003061176] Chr2:224474356 [GRCh38]
Chr2:225339073 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.668A>C (p.Lys223Thr) single nucleotide variant not provided [RCV002671622] Chr2:224511569 [GRCh38]
Chr2:225376286 [GRCh37]
Chr2:2q36.2
likely benign|uncertain significance
NM_003590.5(CUL3):c.67-16C>T single nucleotide variant not provided [RCV002580286] Chr2:224557872 [GRCh38]
Chr2:225422589 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.591A>C (p.Gly197=) single nucleotide variant not provided [RCV003089882] Chr2:224513587 [GRCh38]
Chr2:225378304 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.932A>G (p.Lys311Arg) single nucleotide variant not provided [RCV002675678] Chr2:224506955 [GRCh38]
Chr2:225371672 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.265G>A (p.Val89Met) single nucleotide variant Inborn genetic diseases [RCV002935391] Chr2:224535641 [GRCh38]
Chr2:225400358 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1024A>G (p.Ile342Val) single nucleotide variant not provided [RCV002577814] Chr2:224506863 [GRCh38]
Chr2:225371580 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.2088C>T (p.Asp696=) single nucleotide variant not provided [RCV002628851] Chr2:224478287 [GRCh38]
Chr2:225343004 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.2281C>T (p.Arg761Cys) single nucleotide variant CUL3-related condition [RCV003404025]|not provided [RCV003051521] Chr2:224474271 [GRCh38]
Chr2:225338988 [GRCh37]
Chr2:2q36.2
likely pathogenic|uncertain significance
NM_003590.5(CUL3):c.669A>G (p.Lys223=) single nucleotide variant not provided [RCV002725743] Chr2:224511568 [GRCh38]
Chr2:225376285 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.378+9A>C single nucleotide variant not provided [RCV002653822] Chr2:224535519 [GRCh38]
Chr2:225400236 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.778A>G (p.Ile260Val) single nucleotide variant Inborn genetic diseases [RCV002723489] Chr2:224511459 [GRCh38]
Chr2:225376176 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.382C>T (p.Arg128Cys) single nucleotide variant not provided [RCV003129281] Chr2:224514769 [GRCh38]
Chr2:225379486 [GRCh37]
Chr2:2q36.2
likely pathogenic
NM_003590.5(CUL3):c.655-15A>T single nucleotide variant not provided [RCV002586465] Chr2:224511597 [GRCh38]
Chr2:225376314 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1843-15C>A single nucleotide variant not provided [RCV002589759] Chr2:224482093 [GRCh38]
Chr2:225346810 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1419_1425delinsTAAAC (p.Met473fs) indel Neurodevelopmental disorder with or without autism or seizures [RCV003154829] Chr2:224503025..224503031 [GRCh38]
Chr2:225367742..225367748 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.567_574del (p.Met189fs) deletion Neurodevelopmental disorder with or without autism or seizures [RCV003222585] Chr2:224513604..224513611 [GRCh38]
Chr2:225378321..225378328 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1156_1159delinsTC (p.Glu386fs) indel Neurodevelopmental disorder with or without autism or seizures [RCV003225623] Chr2:224506003..224506006 [GRCh38]
Chr2:225370720..225370723 [GRCh37]
Chr2:2q36.2
likely pathogenic
NM_003590.5(CUL3):c.817A>G (p.Met273Val) single nucleotide variant not provided [RCV003145924] Chr2:224511420 [GRCh38]
Chr2:225376137 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1377+35_1377+38del deletion not provided [RCV003145922] Chr2:224503614..224503617 [GRCh38]
Chr2:225368331..225368334 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.2222T>C (p.Ile741Thr) single nucleotide variant not provided [RCV003145923] Chr2:224474330 [GRCh38]
Chr2:225339047 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1826A>G (p.Glu609Gly) single nucleotide variant Inborn genetic diseases [RCV003221110] Chr2:224495848 [GRCh38]
Chr2:225360565 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1880T>A (p.Leu627His) single nucleotide variant not provided [RCV003229302] Chr2:224482041 [GRCh38]
Chr2:225346758 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.2266C>T (p.Arg756Ter) single nucleotide variant not provided [RCV003227341] Chr2:224474286 [GRCh38]
Chr2:225339003 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1939G>T (p.Glu647Ter) single nucleotide variant not provided [RCV003145925] Chr2:224481982 [GRCh38]
Chr2:225346699 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.2267G>A (p.Arg756Gln) single nucleotide variant not provided [RCV003218950] Chr2:224474285 [GRCh38]
Chr2:225339002 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1643T>C (p.Leu548Pro) single nucleotide variant not provided [RCV003329909] Chr2:224497817 [GRCh38]
Chr2:225362534 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1314_1341delinsTCTCACA (p.Arg438_Ser447delinsSerLeuThr) indel not provided [RCV003325891] Chr2:224503688..224503715 [GRCh38]
Chr2:225368405..225368432 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1323C>T (p.Leu441=) single nucleotide variant not provided [RCV003327074] Chr2:224503706 [GRCh38]
Chr2:225368423 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1166C>T (p.Ser389Leu) single nucleotide variant not provided [RCV003334236] Chr2:224505996 [GRCh38]
Chr2:225370713 [GRCh37]
Chr2:2q36.2
likely pathogenic
NM_003590.5(CUL3):c.1720G>C (p.Glu574Gln) single nucleotide variant CUL3-related condition [RCV003420890] Chr2:224495954 [GRCh38]
Chr2:225360671 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.706_709del (p.Lys235_Lys236insTer) microsatellite not provided [RCV003332794] Chr2:224511528..224511531 [GRCh38]
Chr2:225376245..225376248 [GRCh37]
Chr2:2q36.2
likely pathogenic
NM_003590.5(CUL3):c.1549T>G (p.Ser517Ala) single nucleotide variant not provided [RCV003457091] Chr2:224500424 [GRCh38]
Chr2:225365141 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1155T>C (p.Pro385=) single nucleotide variant not provided [RCV003457320] Chr2:224506007 [GRCh38]
Chr2:225370724 [GRCh37]
Chr2:2q36.2
likely benign
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3
pathogenic
NM_003590.5(CUL3):c.1449G>A (p.Thr483=) single nucleotide variant not provided [RCV003429562] Chr2:224503001 [GRCh38]
Chr2:225367718 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.387G>T (p.Val129=) single nucleotide variant not provided [RCV003440199] Chr2:224514764 [GRCh38]
Chr2:225379481 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.-191GCC[10] microsatellite not provided [RCV003440200] Chr2:224585176..224585177 [GRCh38]
Chr2:225449893..225449894 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.1103_1106del (p.Gln368fs) microsatellite CUL3-related condition [RCV003391442] Chr2:224506056..224506059 [GRCh38]
Chr2:225370773..225370776 [GRCh37]
Chr2:2q36.2
likely pathogenic
NM_003590.5(CUL3):c.67-11915T>C single nucleotide variant CUL3-related condition [RCV003416828] Chr2:224569771 [GRCh38]
Chr2:225434488 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.966G>T (p.Arg322Ser) single nucleotide variant not provided [RCV003442273] Chr2:224506921 [GRCh38]
Chr2:225371638 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.65C>T (p.Pro22Leu) single nucleotide variant CUL3-related condition [RCV003402484] Chr2:224584945 [GRCh38]
Chr2:225449662 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1349C>T (p.Ser450Phe) single nucleotide variant CUL3-related condition [RCV003420947] Chr2:224503680 [GRCh38]
Chr2:225368397 [GRCh37]
Chr2:2q36.2
likely pathogenic
NM_003590.5(CUL3):c.590_593del (p.Gly197fs) microsatellite CUL3-related condition [RCV003402414] Chr2:224513585..224513588 [GRCh38]
Chr2:225378302..225378305 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.2033C>T (p.Ala678Val) single nucleotide variant not provided [RCV003694798] Chr2:224478342 [GRCh38]
Chr2:225343059 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1360del (p.Asn453_Met454insTer) deletion not provided [RCV003578596] Chr2:224503669 [GRCh38]
Chr2:225368386 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.607G>T (p.Glu203Ter) single nucleotide variant not provided [RCV003576688] Chr2:224513571 [GRCh38]
Chr2:225378288 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.2030-6T>C single nucleotide variant not provided [RCV003686693] Chr2:224478351 [GRCh38]
Chr2:225343068 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.639T>G (p.Ser213=) single nucleotide variant not provided [RCV003693684] Chr2:224513539 [GRCh38]
Chr2:225378256 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1485+12C>T single nucleotide variant not provided [RCV003880597] Chr2:224502953 [GRCh38]
Chr2:225367670 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1068C>G (p.Leu356=) single nucleotide variant not provided [RCV003572644] Chr2:224506094 [GRCh38]
Chr2:225370811 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1023T>C (p.Tyr341=) single nucleotide variant not provided [RCV003573375] Chr2:224506864 [GRCh38]
Chr2:225371581 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1611-11A>G single nucleotide variant not provided [RCV003715572] Chr2:224497860 [GRCh38]
Chr2:225362577 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.472del (p.Arg158fs) deletion not provided [RCV003693016] Chr2:224514679 [GRCh38]
Chr2:225379396 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.654+13A>G single nucleotide variant not provided [RCV003661348] Chr2:224513511 [GRCh38]
Chr2:225378228 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.419A>G (p.Tyr140Cys) single nucleotide variant not provided [RCV003577366] Chr2:224514732 [GRCh38]
Chr2:225379449 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1640A>C (p.Gln547Pro) single nucleotide variant not provided [RCV003694625] Chr2:224497820 [GRCh38]
Chr2:225362537 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.2030-9C>A single nucleotide variant not provided [RCV003659954] Chr2:224478354 [GRCh38]
Chr2:225343071 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1851G>A (p.Gln617=) single nucleotide variant not provided [RCV003714647] Chr2:224482070 [GRCh38]
Chr2:225346787 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1695A>G (p.Gly565=) single nucleotide variant not provided [RCV003878093] Chr2:224497765 [GRCh38]
Chr2:225362482 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1179T>C (p.Asp393=) single nucleotide variant not provided [RCV003878158] Chr2:224505983 [GRCh38]
Chr2:225370700 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.606AGA[1] (p.Glu203del) microsatellite not provided [RCV003575243] Chr2:224513567..224513569 [GRCh38]
Chr2:225378284..225378286 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.799G>C (p.Glu267Gln) single nucleotide variant not provided [RCV003665372] Chr2:224511438 [GRCh38]
Chr2:225376155 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.654+7C>T single nucleotide variant not provided [RCV003717303] Chr2:224513517 [GRCh38]
Chr2:225378234 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1610+8A>G single nucleotide variant not provided [RCV003580552] Chr2:224500355 [GRCh38]
Chr2:225365072 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1843-10G>A single nucleotide variant not provided [RCV003698232] Chr2:224482088 [GRCh38]
Chr2:225346805 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.620C>T (p.Ala207Val) single nucleotide variant not provided [RCV003814341] Chr2:224513558 [GRCh38]
Chr2:225378275 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1029+13A>G single nucleotide variant not provided [RCV003834590] Chr2:224506845 [GRCh38]
Chr2:225371562 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.828A>T (p.Ile276=) single nucleotide variant not provided [RCV003835882] Chr2:224511409 [GRCh38]
Chr2:225376126 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1823G>A (p.Arg608Lys) single nucleotide variant not provided [RCV003558352] Chr2:224495851 [GRCh38]
Chr2:225360568 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.198G>A (p.Leu66=) single nucleotide variant not provided [RCV003668426] Chr2:224557725 [GRCh38]
Chr2:225422442 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.996A>G (p.Glu332=) single nucleotide variant not provided [RCV003674163] Chr2:224506891 [GRCh38]
Chr2:225371608 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.539+14C>T single nucleotide variant not provided [RCV003663944] Chr2:224514598 [GRCh38]
Chr2:225379315 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.903G>A (p.Lys301=) single nucleotide variant not provided [RCV003817348] Chr2:224506984 [GRCh38]
Chr2:225371701 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.883+13G>T single nucleotide variant not provided [RCV003702047] Chr2:224511341 [GRCh38]
Chr2:225376058 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1754C>G (p.Ser585Cys) single nucleotide variant not provided [RCV003723590] Chr2:224495920 [GRCh38]
Chr2:225360637 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.2231G>A (p.Arg744His) single nucleotide variant not provided [RCV003659639] Chr2:224474321 [GRCh38]
Chr2:225339038 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.2208A>C (p.Pro736=) single nucleotide variant not provided [RCV003836512] Chr2:224474344 [GRCh38]
Chr2:225339061 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.254T>C (p.Leu85Pro) single nucleotide variant not provided [RCV003668754] Chr2:224557669 [GRCh38]
Chr2:225422386 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.992AAG[1] (p.Glu332del) microsatellite not provided [RCV003861335] Chr2:224506890..224506892 [GRCh38]
Chr2:225371607..225371609 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.495A>G (p.Leu165=) single nucleotide variant not provided [RCV003728825] Chr2:224514656 [GRCh38]
Chr2:225379373 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1998A>G (p.Thr666=) single nucleotide variant not provided [RCV003865187] Chr2:224481923 [GRCh38]
Chr2:225346640 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.67-4A>G single nucleotide variant not provided [RCV003728753] Chr2:224557860 [GRCh38]
Chr2:225422577 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.906A>G (p.Leu302=) single nucleotide variant not provided [RCV003705158] Chr2:224506981 [GRCh38]
Chr2:225371698 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.279A>G (p.Val93=) single nucleotide variant not provided [RCV003840940] Chr2:224535627 [GRCh38]
Chr2:225400344 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.2030-10T>C single nucleotide variant not provided [RCV003683131] Chr2:224478355 [GRCh38]
Chr2:225343072 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.2127del (p.Arg709_Ile710insTer) deletion not provided [RCV003703948] Chr2:224478248 [GRCh38]
Chr2:225342965 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.540-6C>T single nucleotide variant not provided [RCV003820634] Chr2:224513644 [GRCh38]
Chr2:225378361 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.883+12C>T single nucleotide variant not provided [RCV003709669] Chr2:224511342 [GRCh38]
Chr2:225376059 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1808T>C (p.Met603Thr) single nucleotide variant not provided [RCV003674685] Chr2:224495866 [GRCh38]
Chr2:225360583 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.2195C>T (p.Ala732Val) single nucleotide variant not provided [RCV003843581] Chr2:224474357 [GRCh38]
Chr2:225339074 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.168G>A (p.Glu56=) single nucleotide variant not provided [RCV003865861] Chr2:224557755 [GRCh38]
Chr2:225422472 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1610+11del deletion not provided [RCV003858673] Chr2:224500352 [GRCh38]
Chr2:225365069 [GRCh37]
Chr2:2q36.2
benign
NM_003590.5(CUL3):c.883+10A>C single nucleotide variant not provided [RCV003679506] Chr2:224511344 [GRCh38]
Chr2:225376061 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1433G>C (p.Ser478Thr) single nucleotide variant not provided [RCV003554664] Chr2:224503017 [GRCh38]
Chr2:225367734 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.2265A>G (p.Ala755=) single nucleotide variant not provided [RCV003710826] Chr2:224474287 [GRCh38]
Chr2:225339004 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1082A>G (p.Asn361Ser) single nucleotide variant not provided [RCV003680019] Chr2:224506080 [GRCh38]
Chr2:225370797 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.610G>A (p.Asp204Asn) single nucleotide variant not provided [RCV003684987] Chr2:224513568 [GRCh38]
Chr2:225378285 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.1450A>G (p.Met484Val) single nucleotide variant not provided [RCV003551870] Chr2:224503000 [GRCh38]
Chr2:225367717 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.2172G>A (p.Ala724=) single nucleotide variant not provided [RCV003818389] Chr2:224478203 [GRCh38]
Chr2:225342920 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1708-19T>A single nucleotide variant not provided [RCV003552076] Chr2:224495985 [GRCh38]
Chr2:225360702 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1584A>G (p.Pro528=) single nucleotide variant not provided [RCV003731774] Chr2:224500389 [GRCh38]
Chr2:225365106 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1378-20T>C single nucleotide variant not provided [RCV003853795] Chr2:224503092 [GRCh38]
Chr2:225367809 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.468T>C (p.Cys156=) single nucleotide variant not provided [RCV003867863] Chr2:224514683 [GRCh38]
Chr2:225379400 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1425G>A (p.Arg475=) single nucleotide variant not provided [RCV003706233] Chr2:224503025 [GRCh38]
Chr2:225367742 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1486-19C>T single nucleotide variant not provided [RCV003844927] Chr2:224500506 [GRCh38]
Chr2:225365223 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.414C>T (p.Asn138=) single nucleotide variant not provided [RCV003562484] Chr2:224514737 [GRCh38]
Chr2:225379454 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.1070T>G (p.Leu357Arg) single nucleotide variant not provided [RCV003858553] Chr2:224506092 [GRCh38]
Chr2:225370809 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.2196G>A (p.Ala732=) single nucleotide variant not provided [RCV003727473] Chr2:224474356 [GRCh38]
Chr2:225339073 [GRCh37]
Chr2:2q36.2
likely benign
NM_003590.5(CUL3):c.950dup (p.Met317fs) duplication not provided [RCV003706982] Chr2:224506936..224506937 [GRCh38]
Chr2:225371653..225371654 [GRCh37]
Chr2:2q36.2
pathogenic
NM_003590.5(CUL3):c.1264A>C (p.Met422Leu) single nucleotide variant not provided [RCV003553699] Chr2:224503765 [GRCh38]
Chr2:225368482 [GRCh37]
Chr2:2q36.2
uncertain significance
NM_003590.5(CUL3):c.539+13T>C single nucleotide variant not provided [RCV003818885] Chr2:224514599 [GRCh38]
Chr2:225379316 [GRCh37]
Chr2:2q36.2
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4664
Count of miRNA genes:1032
Interacting mature miRNAs:1272
Transcripts:ENST00000264414, ENST00000344951, ENST00000409096, ENST00000409777, ENST00000432260, ENST00000436172, ENST00000451538, ENST00000454323, ENST00000481135, ENST00000484081, ENST00000487558, ENST00000497715, ENST00000536702, ENST00000541548, ENST00000546102
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D2S2605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372225,338,668 - 225,339,001UniSTSGRCh37
Build 362225,046,912 - 225,047,245RGDNCBI36
Celera2219,103,530 - 219,103,863RGD
Cytogenetic Map2q36.2UniSTS
HuRef2217,190,354 - 217,190,687UniSTS
GeneMap99-GB4 RH Map2701.7UniSTS
Whitehead-RH Map21043.2UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map21833.7UniSTS
RH91730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372225,338,697 - 225,338,816UniSTSGRCh37
Build 362225,046,941 - 225,047,060RGDNCBI36
Celera2219,103,559 - 219,103,678RGD
Cytogenetic Map2q36.2UniSTS
HuRef2217,190,383 - 217,190,502UniSTS
GeneMap99-GB4 RH Map2700.28UniSTS
SHGC-80864  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372225,346,599 - 225,346,876UniSTSGRCh37
Build 362225,054,843 - 225,055,120RGDNCBI36
Celera2219,111,459 - 219,111,736RGD
Cytogenetic Map2q36.2UniSTS
HuRef2217,198,279 - 217,198,556UniSTS
TNG Radiation Hybrid Map2124813.0UniSTS
RH119703  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372225,439,960 - 225,440,241UniSTSGRCh37
Build 362225,148,204 - 225,148,485RGDNCBI36
Celera2219,204,802 - 219,205,083RGD
Cytogenetic Map2q36.2UniSTS
HuRef2217,291,552 - 217,291,833UniSTS
TNG Radiation Hybrid Map2124859.0UniSTS
D2S1630E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372225,338,712 - 225,338,817UniSTSGRCh37
Build 362225,046,956 - 225,047,061RGDNCBI36
Celera2219,103,574 - 219,103,679RGD
Cytogenetic Map2q36.2UniSTS
HuRef2217,190,398 - 217,190,503UniSTS
RH47436  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372225,337,581 - 225,337,676UniSTSGRCh37
Build 362225,045,825 - 225,045,920RGDNCBI36
Celera2219,102,443 - 219,102,538RGD
Cytogenetic Map2q36.2UniSTS
GeneMap99-GB4 RH Map2699.06UniSTS
NCBI RH Map21833.7UniSTS
CUL3_313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372225,337,335 - 225,338,203UniSTSGRCh37
Build 362225,045,579 - 225,046,447RGDNCBI36
Celera2219,102,197 - 219,103,065RGD
HuRef2217,189,021 - 217,189,889UniSTS
A009S22  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372225,416,362 - 225,416,526UniSTSGRCh37
Build 362225,124,606 - 225,124,770RGDNCBI36
Celera2219,181,222 - 219,181,386RGD
Cytogenetic Map2q36.2UniSTS
HuRef2217,267,975 - 217,268,139UniSTS
GeneMap99-GB4 RH Map2700.28UniSTS
D2S1988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372225,338,690 - 225,338,816UniSTSGRCh37
Build 362225,046,934 - 225,047,060RGDNCBI36
Celera2219,103,552 - 219,103,678RGD
Cytogenetic Map2q36.2UniSTS
HuRef2217,190,376 - 217,190,502UniSTS
Whitehead-YAC Contig Map2 UniSTS
G32809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372225,416,362 - 225,416,526UniSTSGRCh37
Celera2219,181,222 - 219,181,386UniSTS
Cytogenetic Map2q36.2UniSTS
HuRef2217,267,975 - 217,268,139UniSTS
CUL3-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372225,367,737 - 225,368,421UniSTSGRCh37
Celera2219,132,598 - 219,133,282UniSTS
HuRef2217,219,419 - 217,220,103UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1999 1750 1260 283 1405 136 4313 1694 2150 290 1366 1569 160 1116 2774 4
Low 436 1232 466 341 544 328 43 497 1576 128 88 41 13 1 88 14 2
Below cutoff 2 6 2 1 4 7 1 6 2 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB014517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF052147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF064087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY007151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY337761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC092409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ688156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U58089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000264414   ⟹   ENSP00000264414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,470,150 - 224,585,363 (-)Ensembl
RefSeq Acc Id: ENST00000344951   ⟹   ENSP00000343601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,470,150 - 224,585,397 (-)Ensembl
RefSeq Acc Id: ENST00000409096   ⟹   ENSP00000387200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,473,922 - 224,569,825 (-)Ensembl
RefSeq Acc Id: ENST00000409777   ⟹   ENSP00000386525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,473,939 - 224,563,299 (-)Ensembl
RefSeq Acc Id: ENST00000432260   ⟹   ENSP00000484410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,513,615 - 224,557,820 (-)Ensembl
RefSeq Acc Id: ENST00000436172   ⟹   ENSP00000400935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,514,636 - 224,563,320 (-)Ensembl
RefSeq Acc Id: ENST00000451538   ⟹   ENSP00000410575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,474,033 - 224,497,819 (-)Ensembl
RefSeq Acc Id: ENST00000454323   ⟹   ENSP00000400558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,473,910 - 224,495,906 (-)Ensembl
RefSeq Acc Id: ENST00000481135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,502,992 - 224,504,324 (-)Ensembl
RefSeq Acc Id: ENST00000484081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,505,749 - 224,511,411 (-)Ensembl
RefSeq Acc Id: ENST00000487558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,495,006 - 224,500,397 (-)Ensembl
RefSeq Acc Id: ENST00000497715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,473,902 - 224,480,124 (-)Ensembl
RefSeq Acc Id: ENST00000536702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,478,303 - 224,485,384 (-)Ensembl
RefSeq Acc Id: ENST00000541548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,511,438 - 224,533,094 (-)Ensembl
RefSeq Acc Id: ENST00000546102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,535,607 - 224,560,668 (-)Ensembl
RefSeq Acc Id: ENST00000617432   ⟹   ENSP00000477851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,473,934 - 224,505,971 (-)Ensembl
RefSeq Acc Id: NM_001257197   ⟹   NP_001244126
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,470,150 - 224,585,363 (-)NCBI
GRCh372225,334,867 - 225,450,114 (-)NCBI
HuRef2217,186,560 - 217,301,844 (-)NCBI
CHM1_12225,341,500 - 225,456,770 (-)NCBI
T2T-CHM13v2.02224,952,401 - 225,067,578 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001257198   ⟹   NP_001244127
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,470,150 - 224,569,955 (-)NCBI
GRCh372225,334,867 - 225,450,114 (-)NCBI
HuRef2217,186,560 - 217,301,844 (-)NCBI
CHM1_12225,341,500 - 225,441,198 (-)NCBI
T2T-CHM13v2.02224,952,401 - 225,052,174 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003590   ⟹   NP_003581
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,470,150 - 224,585,363 (-)NCBI
GRCh372225,334,867 - 225,450,114 (-)NCBI
Build 362225,043,113 - 225,158,358 (-)NCBI Archive
HuRef2217,186,560 - 217,301,844 (-)NCBI
CHM1_12225,341,500 - 225,456,770 (-)NCBI
T2T-CHM13v2.02224,952,401 - 225,067,578 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712800   ⟹   XP_006712863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,470,150 - 224,563,336 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511995   ⟹   XP_011510297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,470,150 - 224,560,478 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511996   ⟹   XP_011510298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,470,150 - 224,557,856 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047446024   ⟹   XP_047301980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,470,150 - 224,557,856 (-)NCBI
RefSeq Acc Id: XM_054344200   ⟹   XP_054200175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,952,401 - 225,045,555 (-)NCBI
RefSeq Acc Id: XM_054344201   ⟹   XP_054200176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,952,401 - 225,042,697 (-)NCBI
RefSeq Acc Id: XM_054344202   ⟹   XP_054200177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,952,401 - 225,040,085 (-)NCBI
RefSeq Acc Id: XM_054344203   ⟹   XP_054200178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,952,401 - 225,040,085 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001244126 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244127 (Get FASTA)   NCBI Sequence Viewer  
  NP_003581 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712863 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510297 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510298 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301980 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200175 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200176 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200177 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200178 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC28621 (Get FASTA)   NCBI Sequence Viewer  
  AAC36304 (Get FASTA)   NCBI Sequence Viewer  
  AAC36682 (Get FASTA)   NCBI Sequence Viewer  
  AAC50546 (Get FASTA)   NCBI Sequence Viewer  
  AAH31844 (Get FASTA)   NCBI Sequence Viewer  
  AAH39598 (Get FASTA)   NCBI Sequence Viewer  
  AAH92409 (Get FASTA)   NCBI Sequence Viewer  
  AAQ01660 (Get FASTA)   NCBI Sequence Viewer  
  AAX93287 (Get FASTA)   NCBI Sequence Viewer  
  AAY24157 (Get FASTA)   NCBI Sequence Viewer  
  BAA31592 (Get FASTA)   NCBI Sequence Viewer  
  BAF83840 (Get FASTA)   NCBI Sequence Viewer  
  BAH13086 (Get FASTA)   NCBI Sequence Viewer  
  EAW70828 (Get FASTA)   NCBI Sequence Viewer  
  EAW70829 (Get FASTA)   NCBI Sequence Viewer  
  EAW70830 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264414
  ENSP00000264414.4
  ENSP00000343601
  ENSP00000343601.4
  ENSP00000386525
  ENSP00000386525.1
  ENSP00000387200
  ENSP00000387200.1
  ENSP00000400558.1
  ENSP00000400935.1
  ENSP00000410575.1
  ENSP00000484410.1
GenBank Protein Q13618 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_003581   ⟸   NM_003590
- Peptide Label: isoform 1
- UniProtKB: Q9UBI8 (UniProtKB/Swiss-Prot),   Q569L3 (UniProtKB/Swiss-Prot),   O75415 (UniProtKB/Swiss-Prot),   B8ZZC3 (UniProtKB/Swiss-Prot),   A8K536 (UniProtKB/Swiss-Prot),   Q9UET7 (UniProtKB/Swiss-Prot),   Q13618 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001244127   ⟸   NM_001257198
- Peptide Label: isoform 3
- UniProtKB: Q13618 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001244126   ⟸   NM_001257197
- Peptide Label: isoform 2
- UniProtKB: Q13618 (UniProtKB/Swiss-Prot),   B7Z600 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006712863   ⟸   XM_006712800
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011510297   ⟸   XM_011511995
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011510298   ⟸   XM_011511996
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000410575   ⟸   ENST00000451538
RefSeq Acc Id: ENSP00000400558   ⟸   ENST00000454323
RefSeq Acc Id: ENSP00000477851   ⟸   ENST00000617432
RefSeq Acc Id: ENSP00000484410   ⟸   ENST00000432260
RefSeq Acc Id: ENSP00000386525   ⟸   ENST00000409777
RefSeq Acc Id: ENSP00000387200   ⟸   ENST00000409096
RefSeq Acc Id: ENSP00000264414   ⟸   ENST00000264414
RefSeq Acc Id: ENSP00000400935   ⟸   ENST00000436172
RefSeq Acc Id: ENSP00000343601   ⟸   ENST00000344951
RefSeq Acc Id: XP_047301980   ⟸   XM_047446024
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054200175   ⟸   XM_054344200
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200176   ⟸   XM_054344201
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054200177   ⟸   XM_054344202
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054200178   ⟸   XM_054344203
- Peptide Label: isoform X3
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13618-F1-model_v2 AlphaFold Q13618 1-768 view protein structure

Promoters
RGD ID:6862972
Promoter ID:EPDNEW_H4651
Type:initiation region
Name:CUL3_1
Description:cullin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4652  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,585,338 - 224,585,398EPDNEW
RGD ID:6862974
Promoter ID:EPDNEW_H4652
Type:initiation region
Name:CUL3_2
Description:cullin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4651  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,585,484 - 224,585,544EPDNEW
RGD ID:6797155
Promoter ID:HG_KWN:37503
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000409777,   OTTHUMT00000331090
Position:
Human AssemblyChrPosition (strand)Source
Build 362225,135,581 - 225,136,081 (-)MPROMDB
RGD ID:6797153
Promoter ID:HG_KWN:37505
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:ENST00000344951,   OTTHUMT00000256871
Position:
Human AssemblyChrPosition (strand)Source
Build 362225,157,921 - 225,158,932 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2553 AgrOrtholog
COSMIC CUL3 COSMIC
Ensembl Genes ENSG00000036257 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264414 ENTREZGENE
  ENST00000264414.9 UniProtKB/Swiss-Prot
  ENST00000344951 ENTREZGENE
  ENST00000344951.8 UniProtKB/Swiss-Prot
  ENST00000409096 ENTREZGENE
  ENST00000409096.5 UniProtKB/Swiss-Prot
  ENST00000409777 ENTREZGENE
  ENST00000409777.5 UniProtKB/Swiss-Prot
  ENST00000432260.2 UniProtKB/TrEMBL
  ENST00000436172.1 UniProtKB/TrEMBL
  ENST00000451538.1 UniProtKB/TrEMBL
  ENST00000454323.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cullin Repeats UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000036257 GTEx
HGNC ID HGNC:2553 ENTREZGENE
Human Proteome Map CUL3 Human Proteome Map
InterPro Cullin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cullin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cullin_homology UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cullin_homology_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cullin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cullin_neddylation_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cullin_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8452 UniProtKB/Swiss-Prot
NCBI Gene 8452 ENTREZGENE
OMIM 603136 OMIM
PANTHER CULLIN-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11932 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cullin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cullin_Nedd8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27049 PharmGKB
PROSITE CULLIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CULLIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CULLIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cullin_Nedd8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF74788 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF75632 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X1R9_HUMAN UniProtKB/TrEMBL
  A8K536 ENTREZGENE
  B7Z600 ENTREZGENE, UniProtKB/TrEMBL
  B8ZZC3 ENTREZGENE
  CUL3_HUMAN UniProtKB/Swiss-Prot
  H7C1J0_HUMAN UniProtKB/TrEMBL
  H7C1L6_HUMAN UniProtKB/TrEMBL
  H7C399_HUMAN UniProtKB/TrEMBL
  O75415 ENTREZGENE
  Q13618 ENTREZGENE
  Q53RD1_HUMAN UniProtKB/TrEMBL
  Q53S54_HUMAN UniProtKB/TrEMBL
  Q569L3 ENTREZGENE
  Q9UBI8 ENTREZGENE
  Q9UET7 ENTREZGENE
UniProt Secondary A8K536 UniProtKB/Swiss-Prot
  B8ZZC3 UniProtKB/Swiss-Prot
  O75415 UniProtKB/Swiss-Prot
  Q569L3 UniProtKB/Swiss-Prot
  Q9UBI8 UniProtKB/Swiss-Prot
  Q9UET7 UniProtKB/Swiss-Prot