NES (nestin) - Rat Genome Database

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Advanced Search (OLGA)
Gene: NES (nestin) Homo sapiens
Analyze
Symbol: NES
Name: nestin
RGD ID: 737242
HGNC Page HGNC:7756
Description: Predicted to enable CCR5 chemokine receptor binding activity and intermediate filament binding activity. Involved in G2/M transition of mitotic cell cycle; negative regulation of catalytic activity; and stem cell proliferation. Located in cytoplasm and intermediate filament cytoskeleton.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ21841; Nbla00170
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381156,668,763 - 156,677,407 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1156,668,763 - 156,677,407 (-)EnsemblGRCh38hg38GRCh38
GRCh371156,638,555 - 156,647,199 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361154,905,179 - 154,913,813 (-)NCBINCBI36Build 36hg18NCBI36
Build 341153,451,630 - 153,460,262NCBI
Celera1129,709,369 - 129,718,003 (-)NCBICelera
Cytogenetic Map1q23.1NCBI
HuRef1127,996,154 - 128,004,788 (-)NCBIHuRef
CHM1_11158,034,765 - 158,043,399 (-)NCBICHM1_1
T2T-CHM13v2.01155,805,165 - 155,813,809 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,3-dinitrobenzene  (ISO)
15-deoxy-Delta(12,14)-prostaglandin J2  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,6-dimethyl-4-tridecylmorpholine  (ISO)
2-butoxyethanol  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,5,6-trichloro-2-pyridinol  (ISO)
3,5,6-trichloropyridine-2-one  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-[3-(4-tert-butylphenyl)-2-methylpropyl]-2,6-dimethylmorpholine  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
5-fluorouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
9-cis-retinoic acid  (EXP)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
aluminium atom  (ISO)
aluminium(0)  (ISO)
ammonium chloride  (ISO)
Anatoxin a  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzylpenicillin  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (ISO)
bromobenzene  (ISO)
butanal  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
cannabidiol  (EXP)
carbofuran  (ISO)
carbon nanotube  (ISO)
carbonyl sulfide  (ISO)
carmustine  (ISO)
CHIR 99021  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
clozapine  (EXP)
cobalt dichloride  (EXP,ISO)
colforsin daropate hydrochloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
Cuprizon  (ISO)
curcumin  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
decabromodiphenyl ether  (EXP)
desferrioxamine B  (ISO)
desipramine  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dimethyl sulfoxide  (EXP)
dioxygen  (EXP)
disodium selenite  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
eckol  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
ethosuximide  (ISO)
fenamidone  (ISO)
fenpropidin  (ISO)
flusilazole  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
furan  (ISO)
gefitinib  (ISO)
geldanamycin  (EXP)
gentamycin  (ISO)
glyphosate  (EXP)
hydrogen peroxide  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
ketamine  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
lidocaine  (ISO)
lipopolysaccharide  (EXP)
lithium chloride  (ISO)
lupeol  (ISO)
LY294002  (ISO)
melatonin  (EXP,ISO)
methylmercury chloride  (EXP,ISO)
monocrotophos  (EXP)
morphine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N-nitrosourea  (EXP,ISO)
O-methyleugenol  (EXP)
ochratoxin A  (ISO)
paclitaxel  (EXP)
paracetamol  (ISO)
paraoxon  (ISO)
paraquat  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenytoin  (ISO)
progesterone  (EXP,ISO)
quercetin  (EXP,ISO)
resveratrol  (EXP,ISO)
rimonabant  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
saccharin  (ISO)
SB 431542  (EXP)
sildenafil citrate  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
sotorasib  (EXP)
streptozocin  (EXP,ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
Tanshinone I  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (ISO)
testosterone enanthate  (EXP)
thapsigargin  (EXP)
thimerosal  (EXP)
thioacetamide  (ISO)
thymoquinone  (EXP)
titanium dioxide  (ISO)
trametinib  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP,ISO)
triclosan  (EXP)
triphenyl phosphate  (ISO)
trovafloxacin  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Altered gene expression in leukocyte transendothelial migration and cell communication pathways in periodontitis-affected gingival tissues. Abe D, etal., J Periodontal Res. 2011 Jun;46(3):345-53. doi: 10.1111/j.1600-0765.2011.01349.x. Epub 2011 Mar 7.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. [EphB2-Fc promotes activation of endogenous neural stem cells after cerebral cortex infarction: experimental with hypertensive rats] He YD, etal., Zhonghua Yi Xue Za Zhi. 2005 Sep 7;85(34):2395-9.
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. [Neuroprotective effects of exogenous basic fibroblast growth factor on the hypoxic-ischemic brain damage of neonatal rats] Sun JQ, etal., Zhonghua Er Ke Za Zhi. 2007 May;45(5):354-9.
7. Identification of nestin as a urinary biomarker for acute kidney injury. Zhang W, etal., Am J Nephrol. 2014;39(2):110-21. doi: 10.1159/000358260. Epub 2014 Feb 6.
8. [Effect of electroacupuncture on expression of nestin protein after focal ischemia/reperfusion in rats] Zhao ZQ and Luo Y, Zhongguo Zhong Xi Yi Jie He Za Zhi. 2006 Jun;26 Suppl:20-4.
9. Time course of expression of intermediate filament protein vimentin, nestin and desmin in rat renal glomerular injury. Zou J, etal., Chin Med J (Engl). 2007 Jul 5;120(13):1203-5.
Additional References at PubMed
PMID:1478958   PMID:4078630   PMID:9104587   PMID:9917366   PMID:10595912   PMID:10686078   PMID:10912785   PMID:10915564   PMID:10931522   PMID:11161590   PMID:11278541   PMID:11947939  
PMID:12051722   PMID:12101039   PMID:12172785   PMID:12187925   PMID:12477932   PMID:12640742   PMID:12662433   PMID:12663072   PMID:12695551   PMID:12724646   PMID:12751206   PMID:12754281  
PMID:12786777   PMID:12816052   PMID:12832492   PMID:12836073   PMID:12928287   PMID:12966327   PMID:12966727   PMID:12971951   PMID:14514635   PMID:14613807   PMID:14625035   PMID:14648588  
PMID:14743441   PMID:14757413   PMID:14765974   PMID:14965830   PMID:15048922   PMID:15088413   PMID:15117961   PMID:15127288   PMID:15176089   PMID:15345747   PMID:15502861   PMID:15526158  
PMID:15684833   PMID:16136494   PMID:16159877   PMID:16186627   PMID:16275024   PMID:16487364   PMID:16538520   PMID:16616189   PMID:16713999   PMID:16736556   PMID:16826367   PMID:16874866  
PMID:17036052   PMID:17081983   PMID:17210924   PMID:17255215   PMID:17273760   PMID:17300669   PMID:17537965   PMID:17652163   PMID:17784648   PMID:17784840   PMID:17909025   PMID:17984177  
PMID:18029348   PMID:18265627   PMID:18546018   PMID:18618166   PMID:18724036   PMID:18724228   PMID:18799194   PMID:18923447   PMID:18925963   PMID:18998057   PMID:19012049   PMID:19170896  
PMID:19268442   PMID:19294612   PMID:19384922   PMID:19417621   PMID:19445653   PMID:19473053   PMID:19554024   PMID:19562035   PMID:19578047   PMID:19704967   PMID:19845757   PMID:19864043  
PMID:19956860   PMID:20017104   PMID:20044038   PMID:20132963   PMID:20337823   PMID:20426902   PMID:20518888   PMID:20520523   PMID:20536663   PMID:20649878   PMID:20669222   PMID:20700038  
PMID:20943257   PMID:21151388   PMID:21185309   PMID:21251041   PMID:21276080   PMID:21323603   PMID:21340483   PMID:21440298   PMID:21490921   PMID:21503585   PMID:21524985   PMID:21527990  
PMID:21672338   PMID:21873635   PMID:21915031   PMID:21985235   PMID:22113177   PMID:22135720   PMID:22156015   PMID:22178090   PMID:22187705   PMID:22207173   PMID:22246533   PMID:22296500  
PMID:22297445   PMID:22344865   PMID:22350668   PMID:22395498   PMID:22568867   PMID:22572237   PMID:22580387   PMID:22586326   PMID:22649953   PMID:22658674   PMID:22718289   PMID:22886682  
PMID:22899289   PMID:22985576   PMID:22993065   PMID:22999866   PMID:23072594   PMID:23131160   PMID:23291835   PMID:23417116   PMID:23552743   PMID:23706418   PMID:23757003   PMID:23776077  
PMID:23962157   PMID:23979707   PMID:24008823   PMID:24030749   PMID:24147430   PMID:24254558   PMID:24283983   PMID:24443256   PMID:24481417   PMID:24498263   PMID:24519516   PMID:24610946  
PMID:24657437   PMID:24711643   PMID:24755685   PMID:24785714   PMID:25056574   PMID:25083869   PMID:25118937   PMID:25120750   PMID:25164879   PMID:25178519   PMID:25242024   PMID:25322343  
PMID:25339000   PMID:25365206   PMID:25371063   PMID:25376607   PMID:25400792   PMID:25428542   PMID:25500739   PMID:25527454   PMID:25599268   PMID:25605182   PMID:25629269   PMID:25839093  
PMID:25843934   PMID:25854362   PMID:25921289   PMID:25940879   PMID:25963833   PMID:25967234   PMID:26186194   PMID:26242334   PMID:26261513   PMID:26335012   PMID:26414809   PMID:26421614  
PMID:26434586   PMID:26496610   PMID:26600525   PMID:26699726   PMID:26768429   PMID:26945442   PMID:26972711   PMID:27016413   PMID:27102770   PMID:27150062   PMID:27311769   PMID:27314299  
PMID:27402148   PMID:27412382   PMID:27450656   PMID:27479651   PMID:27626172   PMID:27837619   PMID:28002641   PMID:28189679   PMID:28347241   PMID:28358810   PMID:28389227   PMID:28397199  
PMID:28439082   PMID:28514442   PMID:28656248   PMID:28813667   PMID:28925561   PMID:29159761   PMID:29168665   PMID:29270750   PMID:29345290   PMID:29467282   PMID:29517198   PMID:29541793  
PMID:29654697   PMID:29697001   PMID:29901100   PMID:29970509   PMID:30021884   PMID:30096889   PMID:30190500   PMID:30232004   PMID:30232588   PMID:30251808   PMID:30279450   PMID:30411790  
PMID:30471916   PMID:30819139   PMID:30883593   PMID:30884312   PMID:30890564   PMID:30948508   PMID:31374137   PMID:31586073   PMID:31677196   PMID:31695040   PMID:31980649   PMID:32170669  
PMID:32197003   PMID:32203420   PMID:32687490   PMID:32780723   PMID:32950539   PMID:33111431   PMID:33112545   PMID:33397691   PMID:33644029   PMID:33734917   PMID:33961781   PMID:34079125  
PMID:34158391   PMID:34537242   PMID:34625478   PMID:34672954   PMID:34948016   PMID:35013218   PMID:35076959   PMID:35085579   PMID:35271311   PMID:35370458   PMID:35428952   PMID:35430343  
PMID:35439318   PMID:35446349   PMID:35474131   PMID:35821241   PMID:36168628   PMID:36215168   PMID:36217030   PMID:36382360   PMID:36413852   PMID:36424410   PMID:36634849   PMID:36649044  
PMID:36931259   PMID:37071682   PMID:37640791   PMID:38154357   PMID:38554317   PMID:38697112   PMID:38943005  


Genomics

Comparative Map Data
NES
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381156,668,763 - 156,677,407 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1156,668,763 - 156,677,407 (-)EnsemblGRCh38hg38GRCh38
GRCh371156,638,555 - 156,647,199 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361154,905,179 - 154,913,813 (-)NCBINCBI36Build 36hg18NCBI36
Build 341153,451,630 - 153,460,262NCBI
Celera1129,709,369 - 129,718,003 (-)NCBICelera
Cytogenetic Map1q23.1NCBI
HuRef1127,996,154 - 128,004,788 (-)NCBIHuRef
CHM1_11158,034,765 - 158,043,399 (-)NCBICHM1_1
T2T-CHM13v2.01155,805,165 - 155,813,809 (-)NCBIT2T-CHM13v2.0
Nes
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39387,878,400 - 87,887,758 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl387,878,385 - 87,887,758 (+)EnsemblGRCm39 Ensembl
GRCm38387,971,093 - 87,980,451 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl387,971,078 - 87,980,451 (+)EnsemblGRCm38mm10GRCm38
MGSCv37387,775,015 - 87,784,373 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36388,057,020 - 88,066,378 (+)NCBIMGSCv36mm8
Celera388,008,485 - 88,017,845 (+)NCBICelera
Cytogenetic Map3F1NCBI
cM Map338.78NCBI
Nes
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82175,735,715 - 175,745,631 (+)NCBIGRCr8
mRatBN7.22173,437,867 - 173,447,777 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2173,438,734 - 173,447,777 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2180,583,526 - 180,592,569 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02178,605,885 - 178,614,928 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02173,205,949 - 173,214,992 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02187,343,109 - 187,352,972 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2187,344,056 - 187,352,969 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02206,746,885 - 206,755,989 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42180,051,907 - 180,060,947 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12180,002,012 - 180,011,053 (+)NCBI
Celera2167,386,159 - 167,395,202 (+)NCBICelera
Cytogenetic Map2q34NCBI
Nes
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555452,748,078 - 2,756,301 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555452,748,132 - 2,756,595 (-)NCBIChiLan1.0ChiLan1.0
NES
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2193,167,229 - 93,175,869 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1192,901,730 - 92,910,368 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01132,012,273 - 132,020,907 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11135,835,456 - 135,844,094 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1135,835,456 - 135,844,094 (-)Ensemblpanpan1.1panPan2
NES
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1741,296,395 - 41,305,641 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl741,295,989 - 41,303,736 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha740,783,666 - 40,792,924 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0741,159,499 - 41,168,749 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl741,160,198 - 41,168,746 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1740,941,448 - 40,950,698 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0740,994,447 - 41,003,699 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0741,278,086 - 41,287,336 (+)NCBIUU_Cfam_GSD_1.0
Nes
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505826,807,567 - 26,817,174 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365805,837,936 - 5,847,020 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365805,837,949 - 5,847,499 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NES
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl493,412,247 - 93,421,893 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1493,412,660 - 93,421,899 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24101,984,527 - 101,993,772 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NES
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1207,185,208 - 7,193,964 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl207,185,390 - 7,193,983 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660386,480,916 - 6,489,509 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nes
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248851,837,926 - 1,844,895 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248851,837,614 - 1,845,029 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NES
115 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|See cases [RCV000051851] Chr1:156664483..160727411 [GRCh38]
Chr1:156634275..160697201 [GRCh37]
Chr1:154900899..158963825 [NCBI36]
Chr1:1q23.1-23.3		 pathogenic
NM_006617.1(NES):c.4146C>T (p.Val1382=) single nucleotide variant Malignant melanoma [RCV000064206] Chr1:156670042 [GRCh38]
Chr1:156639834 [GRCh37]
Chr1:154906458 [NCBI36]
Chr1:1q23.1		 not provided
NM_006617.2(NES):c.1825G>C (p.Glu609Gln) single nucleotide variant not provided [RCV000953157]|not specified [RCV000202897] Chr1:156672363 [GRCh38]
Chr1:156642155 [GRCh37]
Chr1:1q23.1		 benign
GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1 copy number loss See cases [RCV000138561] Chr1:156256495..156681863 [GRCh38]
Chr1:156226286..156651655 [GRCh37]
Chr1:154492910..154918279 [NCBI36]
Chr1:1q22-23.1		 likely pathogenic
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 copy number gain See cases [RCV000139902] Chr1:154566501..157624084 [GRCh38]
Chr1:154538977..157593874 [GRCh37]
Chr1:152805601..155860498 [NCBI36]
Chr1:1q21.3-23.1		 pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
NM_006617.2(NES):c.2296C>T (p.Arg766Trp) single nucleotide variant not specified [RCV004291527] Chr1:156671892 [GRCh38]
Chr1:156641684 [GRCh37]
Chr1:1q23.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
Single allele inversion Pediatric metastatic thyroid tumour [RCV000585807] Chr1:154130985..156843877 [GRCh37]
Chr1:1q21.3-23.1		 likely pathogenic
NM_006617.2(NES):c.3320G>C (p.Gly1107Ala) single nucleotide variant not specified [RCV004294292] Chr1:156670868 [GRCh38]
Chr1:156640660 [GRCh37]
Chr1:1q23.1		 uncertain significance
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3 copy number gain not provided [RCV000585385] Chr1:153751465..156660462 [GRCh37]
Chr1:1q21.3-23.1		 likely pathogenic
NM_006617.2(NES):c.2363T>C (p.Leu788Pro) single nucleotide variant not specified [RCV004304903] Chr1:156671825 [GRCh38]
Chr1:156641617 [GRCh37]
Chr1:1q23.1		 uncertain significance
GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1 copy number loss not provided [RCV000684658] Chr1:155636337..158024499 [GRCh37]
Chr1:1q22-23.1		 pathogenic
GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3 copy number gain not provided [RCV000684659] Chr1:155999570..156844432 [GRCh37]
Chr1:1q22-23.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
LMNA-NTRK1 fusion fusion Congenital fibrosarcoma [RCV000754610] Chr1:156100565..156844697 [GRCh37]
Chr1:1q22-23.1		 pathogenic
NM_006617.2(NES):c.2376C>T (p.Asp792=) single nucleotide variant not provided [RCV000936355] Chr1:156671812 [GRCh38]
Chr1:156641604 [GRCh37]
Chr1:1q23.1		 likely benign
NM_006617.2(NES):c.2973G>A (p.Lys991=) single nucleotide variant not provided [RCV000923998] Chr1:156671215 [GRCh38]
Chr1:156641007 [GRCh37]
Chr1:1q23.1		 likely benign
NM_006617.2(NES):c.1025G>A (p.Arg342Gln) single nucleotide variant not provided [RCV000879245] Chr1:156673163 [GRCh38]
Chr1:156642955 [GRCh37]
Chr1:1q23.1		 benign
NM_006617.2(NES):c.3313G>T (p.Val1105Leu) single nucleotide variant not provided [RCV000883960] Chr1:156670875 [GRCh38]
Chr1:156640667 [GRCh37]
Chr1:1q23.1		 likely benign
NM_006617.2(NES):c.2371C>A (p.Leu791Ile) single nucleotide variant not provided [RCV000904398] Chr1:156671817 [GRCh38]
Chr1:156641609 [GRCh37]
Chr1:1q23.1		 benign
NM_006617.2(NES):c.4722C>T (p.Asp1574=) single nucleotide variant not provided [RCV000915958] Chr1:156669466 [GRCh38]
Chr1:156639258 [GRCh37]
Chr1:1q23.1		 likely benign
NM_006617.2(NES):c.4219G>A (p.Gly1407Arg) single nucleotide variant not provided [RCV000963776] Chr1:156669969 [GRCh38]
Chr1:156639761 [GRCh37]
Chr1:1q23.1		 benign
NM_006617.2(NES):c.996G>C (p.Glu332Asp) single nucleotide variant not specified [RCV004317103] Chr1:156673192 [GRCh38]
Chr1:156642984 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1886A>C (p.Gln629Pro) single nucleotide variant not specified [RCV004298069] Chr1:156672302 [GRCh38]
Chr1:156642094 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.4435G>A (p.Gly1479Ser) single nucleotide variant not provided [RCV000894297] Chr1:156669753 [GRCh38]
Chr1:156639545 [GRCh37]
Chr1:1q23.1		 likely benign
GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3 copy number gain not provided [RCV000848811] Chr1:155770505..156652136 [GRCh37]
Chr1:1q22-23.1		 uncertain significance
NM_006617.2(NES):c.1980G>A (p.Leu660=) single nucleotide variant not provided [RCV000909012] Chr1:156672208 [GRCh38]
Chr1:156642000 [GRCh37]
Chr1:1q23.1		 benign
NM_006617.2(NES):c.2489A>G (p.Lys830Arg) single nucleotide variant not provided [RCV000974599] Chr1:156671699 [GRCh38]
Chr1:156641491 [GRCh37]
Chr1:1q23.1		 benign
NM_006617.2(NES):c.3498G>A (p.Glu1166=) single nucleotide variant not provided [RCV000925474] Chr1:156670690 [GRCh38]
Chr1:156640482 [GRCh37]
Chr1:1q23.1		 likely benign
NM_006617.2(NES):c.1236C>G (p.Leu412=) single nucleotide variant not provided [RCV000974862] Chr1:156672952 [GRCh38]
Chr1:156642744 [GRCh37]
Chr1:1q23.1		 benign
NM_006617.2(NES):c.2234G>C (p.Arg745Thr) single nucleotide variant not provided [RCV000909309] Chr1:156671954 [GRCh38]
Chr1:156641746 [GRCh37]
Chr1:1q23.1		 likely benign
NM_006617.2(NES):c.3475G>A (p.Gly1159Arg) single nucleotide variant not provided [RCV000974494] Chr1:156670713 [GRCh38]
Chr1:156640505 [GRCh37]
Chr1:1q23.1		 likely benign
NM_006617.2(NES):c.4396A>G (p.Ser1466Gly) single nucleotide variant not provided [RCV000963775] Chr1:156669792 [GRCh38]
Chr1:156639584 [GRCh37]
Chr1:1q23.1		 benign
NM_006617.2(NES):c.3186G>T (p.Ala1062=) single nucleotide variant not provided [RCV000903682] Chr1:156671002 [GRCh38]
Chr1:156640794 [GRCh37]
Chr1:1q23.1		 likely benign
NM_006617.2(NES):c.3824C>T (p.Pro1275Leu) single nucleotide variant not provided [RCV001637604] Chr1:156670364 [GRCh38]
Chr1:156640156 [GRCh37]
Chr1:1q23.1		 benign
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NC_000001.10:g.(?_155581953)_(156851434_?)del deletion Charcot-Marie-Tooth disease type 2 [RCV001983077] Chr1:155581953..156851434 [GRCh37]
Chr1:1q22-23.1		 pathogenic
NC_000001.10:g.(?_154141761)_(156851434_?)dup duplication Charcot-Marie-Tooth disease type 2 [RCV001990060] Chr1:154141761..156851434 [GRCh37]
Chr1:1q21.3-23.1		 uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1		 uncertain significance
NM_006617.2(NES):c.3751G>A (p.Gly1251Arg) single nucleotide variant not specified [RCV004329946] Chr1:156670437 [GRCh38]
Chr1:156640229 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.131G>A (p.Arg44Gln) single nucleotide variant not specified [RCV004329666] Chr1:156677134 [GRCh38]
Chr1:156646926 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.3686T>C (p.Leu1229Pro) single nucleotide variant not specified [RCV004196123] Chr1:156670502 [GRCh38]
Chr1:156640294 [GRCh37]
Chr1:1q23.1		 likely benign
NM_006617.2(NES):c.3398G>C (p.Arg1133Thr) single nucleotide variant not specified [RCV004069932] Chr1:156670790 [GRCh38]
Chr1:156640582 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.2220T>A (p.Asn740Lys) single nucleotide variant not specified [RCV004158883] Chr1:156671968 [GRCh38]
Chr1:156641760 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.4678T>C (p.Ser1560Pro) single nucleotide variant not specified [RCV004112564] Chr1:156669510 [GRCh38]
Chr1:156639302 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.4298G>C (p.Gly1433Ala) single nucleotide variant not specified [RCV004209886] Chr1:156669890 [GRCh38]
Chr1:156639682 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.449G>C (p.Gly150Ala) single nucleotide variant not specified [RCV004151940] Chr1:156676816 [GRCh38]
Chr1:156646608 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.217G>A (p.Glu73Lys) single nucleotide variant not specified [RCV004228937] Chr1:156677048 [GRCh38]
Chr1:156646840 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.4460C>T (p.Thr1487Met) single nucleotide variant not specified [RCV004162841] Chr1:156669728 [GRCh38]
Chr1:156639520 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.4780G>T (p.Ala1594Ser) single nucleotide variant not specified [RCV004111722] Chr1:156669408 [GRCh38]
Chr1:156639200 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.4363G>C (p.Gly1455Arg) single nucleotide variant not specified [RCV004127225] Chr1:156669825 [GRCh38]
Chr1:156639617 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1869G>T (p.Gln623His) single nucleotide variant not specified [RCV004100828] Chr1:156672319 [GRCh38]
Chr1:156642111 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.4582C>T (p.Pro1528Ser) single nucleotide variant not specified [RCV004153537] Chr1:156669606 [GRCh38]
Chr1:156639398 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.2387C>A (p.Ala796Asp) single nucleotide variant not specified [RCV004214458] Chr1:156671801 [GRCh38]
Chr1:156641593 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.232G>A (p.Glu78Lys) single nucleotide variant not specified [RCV004201421] Chr1:156677033 [GRCh38]
Chr1:156646825 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1231C>T (p.Pro411Ser) single nucleotide variant not specified [RCV004079614] Chr1:156672957 [GRCh38]
Chr1:156642749 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1412G>T (p.Ser471Ile) single nucleotide variant not specified [RCV004216318] Chr1:156672776 [GRCh38]
Chr1:156642568 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.29T>G (p.Phe10Cys) single nucleotide variant not specified [RCV004230473] Chr1:156677236 [GRCh38]
Chr1:156647028 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.4536A>C (p.Lys1512Asn) single nucleotide variant not specified [RCV004104739] Chr1:156669652 [GRCh38]
Chr1:156639444 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.587G>A (p.Arg196His) single nucleotide variant not specified [RCV004143976] Chr1:156676678 [GRCh38]
Chr1:156646470 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1691G>A (p.Ser564Asn) single nucleotide variant not specified [RCV004100744] Chr1:156672497 [GRCh38]
Chr1:156642289 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.4436G>A (p.Gly1479Asp) single nucleotide variant not specified [RCV004087100] Chr1:156669752 [GRCh38]
Chr1:156639544 [GRCh37]
Chr1:1q23.1		 likely benign
NM_006617.2(NES):c.3014A>T (p.Glu1005Val) single nucleotide variant not specified [RCV004195576] Chr1:156671174 [GRCh38]
Chr1:156640966 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.3926C>T (p.Thr1309Ile) single nucleotide variant not specified [RCV004100669] Chr1:156670262 [GRCh38]
Chr1:156640054 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.23A>T (p.Glu8Val) single nucleotide variant Congenital fibrosis of extraocular muscles [RCV003883208]|not specified [RCV004148332] Chr1:156677242 [GRCh38]
Chr1:156647034 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.31C>G (p.Gln11Glu) single nucleotide variant not specified [RCV004093613] Chr1:156677234 [GRCh38]
Chr1:156647026 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.2131T>C (p.Phe711Leu) single nucleotide variant not specified [RCV004142621] Chr1:156672057 [GRCh38]
Chr1:156641849 [GRCh37]
Chr1:1q23.1		 likely benign
NM_006617.2(NES):c.3482G>T (p.Ser1161Ile) single nucleotide variant not specified [RCV004162693] Chr1:156670706 [GRCh38]
Chr1:156640498 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.853C>T (p.Arg285Trp) single nucleotide variant not specified [RCV004172644] Chr1:156675271 [GRCh38]
Chr1:156645063 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.4141G>C (p.Gly1381Arg) single nucleotide variant not specified [RCV004160934] Chr1:156670047 [GRCh38]
Chr1:156639839 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1342G>A (p.Gly448Arg) single nucleotide variant not specified [RCV004215718] Chr1:156672846 [GRCh38]
Chr1:156642638 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.73C>T (p.Arg25Trp) single nucleotide variant not specified [RCV004124815] Chr1:156677192 [GRCh38]
Chr1:156646984 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.4213C>G (p.Arg1405Gly) single nucleotide variant not specified [RCV004153083] Chr1:156669975 [GRCh38]
Chr1:156639767 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.3583A>G (p.Thr1195Ala) single nucleotide variant not specified [RCV004175763] Chr1:156670605 [GRCh38]
Chr1:156640397 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1010G>A (p.Arg337Lys) single nucleotide variant not specified [RCV004213540] Chr1:156673178 [GRCh38]
Chr1:156642970 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.4262A>G (p.Glu1421Gly) single nucleotide variant not specified [RCV004168329] Chr1:156669926 [GRCh38]
Chr1:156639718 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.3733G>T (p.Ala1245Ser) single nucleotide variant not specified [RCV004116224] Chr1:156670455 [GRCh38]
Chr1:156640247 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.4609G>A (p.Gly1537Ser) single nucleotide variant not specified [RCV004168839] Chr1:156669579 [GRCh38]
Chr1:156639371 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.2861C>T (p.Thr954Met) single nucleotide variant not specified [RCV004080489] Chr1:156671327 [GRCh38]
Chr1:156641119 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.586C>A (p.Arg196Ser) single nucleotide variant not specified [RCV004313235] Chr1:156676679 [GRCh38]
Chr1:156646471 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.223C>T (p.His75Tyr) single nucleotide variant not specified [RCV004261501] Chr1:156677042 [GRCh38]
Chr1:156646834 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.3820G>A (p.Gly1274Ser) single nucleotide variant not specified [RCV004256739] Chr1:156670368 [GRCh38]
Chr1:156640160 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1479C>G (p.Cys493Trp) single nucleotide variant not specified [RCV004250047] Chr1:156672709 [GRCh38]
Chr1:156642501 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.3391G>A (p.Ala1131Thr) single nucleotide variant not specified [RCV004263436] Chr1:156670797 [GRCh38]
Chr1:156640589 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1283T>C (p.Leu428Pro) single nucleotide variant not specified [RCV004276317] Chr1:156672905 [GRCh38]
Chr1:156642697 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1906A>G (p.Met636Val) single nucleotide variant not specified [RCV004255428] Chr1:156672282 [GRCh38]
Chr1:156642074 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.3511G>A (p.Gly1171Ser) single nucleotide variant not specified [RCV004259324] Chr1:156670677 [GRCh38]
Chr1:156640469 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1862A>T (p.Asp621Val) single nucleotide variant not specified [RCV004279452] Chr1:156672326 [GRCh38]
Chr1:156642118 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.4082G>A (p.Arg1361His) single nucleotide variant not specified [RCV004267264] Chr1:156670106 [GRCh38]
Chr1:156639898 [GRCh37]
Chr1:1q23.1		 likely benign
NM_006617.2(NES):c.1061C>G (p.Thr354Ser) single nucleotide variant not specified [RCV004312762] Chr1:156673127 [GRCh38]
Chr1:156642919 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.2503G>A (p.Glu835Lys) single nucleotide variant not specified [RCV004250148] Chr1:156671685 [GRCh38]
Chr1:156641477 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.3031G>A (p.Glu1011Lys) single nucleotide variant not specified [RCV004256725] Chr1:156671157 [GRCh38]
Chr1:156640949 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1862A>G (p.Asp621Gly) single nucleotide variant not specified [RCV004267878] Chr1:156672326 [GRCh38]
Chr1:156642118 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.3418C>A (p.Pro1140Thr) single nucleotide variant not specified [RCV004264655] Chr1:156670770 [GRCh38]
Chr1:156640562 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.2048T>C (p.Val683Ala) single nucleotide variant not specified [RCV004330844] Chr1:156672140 [GRCh38]
Chr1:156641932 [GRCh37]
Chr1:1q23.1		 uncertain significance
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1		 pathogenic
NM_006617.2(NES):c.1285C>T (p.Arg429Trp) single nucleotide variant not specified [RCV004348397] Chr1:156672903 [GRCh38]
Chr1:156642695 [GRCh37]
Chr1:1q23.1		 likely benign
NM_006617.2(NES):c.1405C>G (p.Pro469Ala) single nucleotide variant not specified [RCV004358931] Chr1:156672783 [GRCh38]
Chr1:156642575 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.241C>T (p.Arg81Cys) single nucleotide variant not specified [RCV004343277] Chr1:156677024 [GRCh38]
Chr1:156646816 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1495G>C (p.Gly499Arg) single nucleotide variant not specified [RCV004356597] Chr1:156672693 [GRCh38]
Chr1:156642485 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.478C>A (p.Arg160Ser) single nucleotide variant not specified [RCV004350915] Chr1:156676787 [GRCh38]
Chr1:156646579 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.4608T>C (p.Asn1536=) single nucleotide variant not provided [RCV003409155] Chr1:156669580 [GRCh38]
Chr1:156639372 [GRCh37]
Chr1:1q23.1		 likely benign
NM_006617.2(NES):c.24G>A (p.Glu8=) single nucleotide variant not provided [RCV003409156] Chr1:156677241 [GRCh38]
Chr1:156647033 [GRCh37]
Chr1:1q23.1		 likely benign
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1 copy number loss not specified [RCV003986928] Chr1:154302443..156868186 [GRCh37]
Chr1:1q21.3-23.1		 pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
NM_006617.2(NES):c.3335G>T (p.Gly1112Val) single nucleotide variant not specified [RCV004489248] Chr1:156670853 [GRCh38]
Chr1:156640645 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.4054G>C (p.Gly1352Arg) single nucleotide variant not specified [RCV004489298] Chr1:156670134 [GRCh38]
Chr1:156639926 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1027C>T (p.Arg343Cys) single nucleotide variant not specified [RCV004489115] Chr1:156673161 [GRCh38]
Chr1:156642953 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1147C>T (p.Pro383Ser) single nucleotide variant not specified [RCV004489122] Chr1:156673041 [GRCh38]
Chr1:156642833 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1615G>A (p.Val539Ile) single nucleotide variant not specified [RCV004489151] Chr1:156672573 [GRCh38]
Chr1:156642365 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.3323T>G (p.Leu1108Arg) single nucleotide variant not specified [RCV004489243] Chr1:156670865 [GRCh38]
Chr1:156640657 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.2225A>C (p.Lys742Thr) single nucleotide variant not specified [RCV004489185] Chr1:156671963 [GRCh38]
Chr1:156641755 [GRCh37]
Chr1:1q23.1		 likely benign
NM_006617.2(NES):c.3370C>G (p.Leu1124Val) single nucleotide variant not specified [RCV004489253] Chr1:156670818 [GRCh38]
Chr1:156640610 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.3725G>C (p.Ser1242Thr) single nucleotide variant not specified [RCV004489280] Chr1:156670463 [GRCh38]
Chr1:156640255 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.3932C>G (p.Pro1311Arg) single nucleotide variant not specified [RCV004489294] Chr1:156670256 [GRCh38]
Chr1:156640048 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.4306C>T (p.Arg1436Trp) single nucleotide variant not specified [RCV004489315] Chr1:156669882 [GRCh38]
Chr1:156639674 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.4750G>A (p.Gly1584Arg) single nucleotide variant not specified [RCV004489335] Chr1:156669438 [GRCh38]
Chr1:156639230 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.496C>T (p.Arg166Cys) single nucleotide variant not specified [RCV004489343] Chr1:156676769 [GRCh38]
Chr1:156646561 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.902C>T (p.Thr301Met) single nucleotide variant not specified [RCV004491432] Chr1:156675222 [GRCh38]
Chr1:156645014 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.923C>A (p.Ala308Asp) single nucleotide variant not specified [RCV004491436] Chr1:156673513 [GRCh38]
Chr1:156643305 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.946C>G (p.Pro316Ala) single nucleotide variant not specified [RCV004491439] Chr1:156673490 [GRCh38]
Chr1:156643282 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.712C>G (p.Arg238Gly) single nucleotide variant not specified [RCV004491419] Chr1:156676553 [GRCh38]
Chr1:156646345 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.637C>T (p.Arg213Trp) single nucleotide variant not specified [RCV004491417] Chr1:156676628 [GRCh38]
Chr1:156646420 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.2002A>C (p.Thr668Pro) single nucleotide variant not specified [RCV004489170] Chr1:156672186 [GRCh38]
Chr1:156641978 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.2585C>T (p.Pro862Leu) single nucleotide variant not specified [RCV004489214] Chr1:156671603 [GRCh38]
Chr1:156641395 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.2923G>C (p.Glu975Gln) single nucleotide variant not specified [RCV004489220] Chr1:156671265 [GRCh38]
Chr1:156641057 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.368G>A (p.Arg123Gln) single nucleotide variant not specified [RCV004489276] Chr1:156676897 [GRCh38]
Chr1:156646689 [GRCh37]
Chr1:1q23.1		 likely benign
NM_006617.2(NES):c.1304C>T (p.Ala435Val) single nucleotide variant not specified [RCV004489129] Chr1:156672884 [GRCh38]
Chr1:156642676 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1388A>G (p.His463Arg) single nucleotide variant not specified [RCV004489138] Chr1:156672800 [GRCh38]
Chr1:156642592 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.758G>A (p.Arg253Gln) single nucleotide variant not specified [RCV004491425] Chr1:156676507 [GRCh38]
Chr1:156646299 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1646T>G (p.Leu549Arg) single nucleotide variant not specified [RCV004489155] Chr1:156672542 [GRCh38]
Chr1:156642334 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.3220G>C (p.Gly1074Arg) single nucleotide variant not specified [RCV004489237] Chr1:156670968 [GRCh38]
Chr1:156640760 [GRCh37]
Chr1:1q23.1		 likely benign
NM_006617.2(NES):c.4107T>G (p.Phe1369Leu) single nucleotide variant not specified [RCV004489303] Chr1:156670081 [GRCh38]
Chr1:156639873 [GRCh37]
Chr1:1q23.1		 uncertain significance
GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3 copy number gain not provided [RCV004577444] Chr1:155709113..159191078 [GRCh37]
Chr1:1q22-23.2		 likely pathogenic
NM_006617.2(NES):c.625G>A (p.Glu209Lys) single nucleotide variant not specified [RCV004641517] Chr1:156676640 [GRCh38]
Chr1:156646432 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.2828C>T (p.Pro943Leu) single nucleotide variant not specified [RCV004641519] Chr1:156671360 [GRCh38]
Chr1:156641152 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.2348T>G (p.Val783Gly) single nucleotide variant not specified [RCV004641518] Chr1:156671840 [GRCh38]
Chr1:156641632 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1502T>A (p.Ile501Asn) single nucleotide variant not specified [RCV004641514] Chr1:156672686 [GRCh38]
Chr1:156642478 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.3248T>C (p.Met1083Thr) single nucleotide variant not specified [RCV004641515] Chr1:156670940 [GRCh38]
Chr1:156640732 [GRCh37]
Chr1:1q23.1		 likely benign
NM_006617.2(NES):c.1828G>A (p.Ala610Thr) single nucleotide variant not specified [RCV004641520] Chr1:156672360 [GRCh38]
Chr1:156642152 [GRCh37]
Chr1:1q23.1		 likely benign
NM_006617.2(NES):c.2958T>G (p.Asp986Glu) single nucleotide variant not specified [RCV004654804] Chr1:156671230 [GRCh38]
Chr1:156641022 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.3142G>A (p.Val1048Met) single nucleotide variant not specified [RCV004654807] Chr1:156671046 [GRCh38]
Chr1:156640838 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1768G>A (p.Glu590Lys) single nucleotide variant not specified [RCV004654808] Chr1:156672420 [GRCh38]
Chr1:156642212 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.2938C>G (p.Leu980Val) single nucleotide variant not specified [RCV004654809] Chr1:156671250 [GRCh38]
Chr1:156641042 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.2417T>C (p.Phe806Ser) single nucleotide variant not specified [RCV004641521] Chr1:156671771 [GRCh38]
Chr1:156641563 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.479G>T (p.Arg160Leu) single nucleotide variant not specified [RCV004654802] Chr1:156676786 [GRCh38]
Chr1:156646578 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1528G>A (p.Ala510Thr) single nucleotide variant not specified [RCV004654803] Chr1:156672660 [GRCh38]
Chr1:156642452 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.3148G>A (p.Ala1050Thr) single nucleotide variant not specified [RCV004654805] Chr1:156671040 [GRCh38]
Chr1:156640832 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1771A>G (p.Lys591Glu) single nucleotide variant not specified [RCV004654806] Chr1:156672417 [GRCh38]
Chr1:156642209 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.1174C>G (p.Pro392Ala) single nucleotide variant not specified [RCV004641516] Chr1:156673014 [GRCh38]
Chr1:156642806 [GRCh37]
Chr1:1q23.1		 uncertain significance
NM_006617.2(NES):c.3037C>A (p.His1013Asn) single nucleotide variant not specified [RCV004641522] Chr1:156671151 [GRCh38]
Chr1:156640943 [GRCh37]
Chr1:1q23.1		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR125B1hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23016664
MIR125B2hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23016664

Predicted Target Of
Summary Value
Count of predictions:319
Count of miRNA genes:259
Interacting mature miRNAs:275
Transcripts:ENST00000368223
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357381BW57_HBody weight QTL 57 (human)10.0001Body weightfat free mass after exercise training1140630236166630236Human
406987623GWAS636599_HBMI-adjusted waist circumference QTL GWAS636599 (human)3e-08BMI-adjusted waist circumference1156670364156670365Human

Markers in Region
PMC19509P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371156,639,125 - 156,639,620UniSTSGRCh37
Build 361154,905,749 - 154,906,244RGDNCBI36
Celera1129,709,939 - 129,710,434RGD
Cytogenetic Map1q23.1UniSTS
HuRef1127,996,724 - 127,997,219UniSTS
NES_2469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371156,638,494 - 156,639,390UniSTSGRCh37
Build 361154,905,118 - 154,906,014RGDNCBI36
Celera1129,709,308 - 129,710,204RGD
HuRef1127,996,093 - 127,996,989UniSTS
WI-17762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371156,638,628 - 156,638,729UniSTSGRCh37
Build 361154,905,252 - 154,905,353RGDNCBI36
Celera1129,709,442 - 129,709,543RGD
Cytogenetic Map1q23.1UniSTS
HuRef1127,996,227 - 127,996,328UniSTS
GeneMap99-GB4 RH Map1562.17UniSTS
GeneMap99-GB4 RH Map1538.04UniSTS
Whitehead-RH Map1700.7UniSTS
RH69273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371156,642,332 - 156,642,519UniSTSGRCh37
Build 361154,908,956 - 154,909,143RGDNCBI36
Celera1129,713,146 - 129,713,333RGD
Cytogenetic Map1q23.1UniSTS
GeneMap99-GB4 RH Map1564.19UniSTS
NCBI RH Map11405.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2436 2788 2239 4972 1721 2340 4 624 1579 465 2269 6941 6111 50 3733 1 847 1742 1606 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB073350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF004335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL120767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF340882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG912782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ678387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU554136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X65964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000368223   ⟹   ENSP00000357206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,668,763 - 156,677,407 (-)Ensembl
RefSeq Acc Id: NM_006617   ⟹   NP_006608
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,668,763 - 156,677,407 (-)NCBI
GRCh371156,638,555 - 156,647,189 (-)ENTREZGENE
Build 361154,905,179 - 154,913,813 (-)NCBI Archive
HuRef1127,996,154 - 128,004,788 (-)ENTREZGENE
CHM1_11158,034,765 - 158,043,399 (-)NCBI
T2T-CHM13v2.01155,805,165 - 155,813,809 (-)NCBI
Sequence:
RefSeq Acc Id: NP_006608   ⟸   NM_006617
- UniProtKB: Q3LIF5 (UniProtKB/Swiss-Prot),   O00552 (UniProtKB/Swiss-Prot),   Q5SYZ6 (UniProtKB/Swiss-Prot),   P48681 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000357206   ⟸   ENST00000368223
Protein Domains
IF rod

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P48681-F1-model_v2 AlphaFold P48681 1-1621 view protein structure

Promoters
RGD ID:6786125
Promoter ID:HG_KWN:5554
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:ENST00000255024,   OTTHUMT00000082844
Position:
Human AssemblyChrPosition (strand)Source
Build 361154,913,564 - 154,914,064 (-)MPROMDB
RGD ID:6857608
Promoter ID:EPDNEW_H1969
Type:initiation region
Name:NES_1
Description:nestin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,677,407 - 156,677,467EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7756 AgrOrtholog
COSMIC NES COSMIC
Ensembl Genes ENSG00000132688 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000368223 ENTREZGENE
  ENST00000368223.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Vasodilator-stimulated phosphoprotein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000132688 GTEx
HGNC ID HGNC:7756 ENTREZGENE
Human Proteome Map NES Human Proteome Map
InterPro IF_conserved UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_rod_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nestin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10763 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10763 ENTREZGENE
OMIM 600915 OMIM
PANTHER NESTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR47051 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31556 PharmGKB
PROSITE IF_ROD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_ROD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Intermediate filament protein, coiled coil region UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5PKT9_HUMAN UniProtKB/TrEMBL
  NEST_HUMAN UniProtKB/Swiss-Prot
  O00552 ENTREZGENE
  P48681 ENTREZGENE
  Q05BW3_HUMAN UniProtKB/TrEMBL
  Q2YDX4_HUMAN UniProtKB/TrEMBL
  Q3LIF5 ENTREZGENE
  Q5SYZ6 ENTREZGENE
  Q9H6U9_HUMAN UniProtKB/TrEMBL
UniProt Secondary O00552 UniProtKB/Swiss-Prot
  Q3LIF5 UniProtKB/Swiss-Prot
  Q5SYZ6 UniProtKB/Swiss-Prot