NOL3 (nucleolar protein 3) - Rat Genome Database

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Gene: NOL3 (nucleolar protein 3) Homo sapiens
Analyze
Symbol: NOL3
Name: nucleolar protein 3
RGD ID: 1352407
HGNC Page HGNC:7869
Description: Enables several functions, including caspase binding activity; cysteine-type endopeptidase inhibitor activity involved in apoptotic process; and identical protein binding activity. Involved in negative regulation of apoptotic signaling pathway; protein-containing complex assembly; and release of sequestered calcium ion into cytosol by sarcoplasmic reticulum. Located in cytoplasm and nucleolus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ARC; CARD2; FCM; FLJ35304; muscle-enriched cytoplasmic protein; MYC; MYOCL1; MYP; NOP; NOP30; nucleolar protein 3 (apoptosis repressor with CARD domain); nucleolar protein of 30 kDa
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Green Monkey
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
GRCh381667,170,538 - 67,175,737 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1667,170,154 - 67,175,737 (+)EnsemblGRCh38hg38GRCh38
GRCh371667,204,441 - 67,209,640 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361665,765,371 - 65,767,127 (+)NCBINCBI36Build 36hg18NCBI36
Build 341665,765,370 - 65,767,125NCBI
Celera1651,712,649 - 51,717,887 (+)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1653,077,589 - 53,082,828 (+)NCBIHuRef
CHM1_11668,611,732 - 68,616,967 (+)NCBICHM1_1
T2T-CHM13v2.01672,964,831 - 72,970,031 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
1H-pyrazole  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (ISO)
aldosterone  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphotericin B  (EXP)
antimycin A  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (EXP)
arsenous acid  (EXP)
beauvericin  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
Brevetoxin B  (EXP)
butanal  (EXP)
caffeine  (EXP)
cantharidin  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt atom  (EXP)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP,ISO)
cyclosporin A  (EXP)
cypermethrin  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dioxygen  (EXP)
diquat  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
furosemide  (ISO)
glyphosate  (EXP)
GW 4064  (ISO)
hydrogen peroxide  (ISO)
indole-3-methanol  (ISO)
inulin  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lactacystin  (ISO)
lead(0)  (EXP)
mercury dibromide  (EXP)
Mesaconitine  (ISO)
methotrexate  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
methylphenidate  (ISO)
Mitotane  (ISO)
monosodium L-glutamate  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel dichloride  (ISO)
nitrofen  (ISO)
oxaliplatin  (ISO)
p-chloromercuribenzoic acid  (EXP)
p-menthan-3-ol  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phenylephrine  (ISO)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
razoxane  (ISO)
rotenone  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenite  (ISO)
Soman  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thimerosal  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
Tungsten carbide  (EXP)
valproic acid  (EXP)
vitamin E  (EXP)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
apoptotic process  (IEA)
blood vessel remodeling  (IEA)
cardiac muscle cell apoptotic process  (IEA)
cellular response to hydrogen peroxide  (ISO)
cellular response to hypoxia  (ISO)
intrinsic apoptotic signaling pathway  (IEA)
mRNA processing  (IEA)
mRNA splice site recognition  (IDA)
myoblast differentiation  (ISO)
negative regulation of apoptotic process  (IEA,IMP,TAS)
negative regulation of cardiac muscle cell apoptotic process  (IEA)
negative regulation of cytosolic calcium ion concentration  (ISO)
negative regulation of death-inducing signaling complex assembly  (ISO)
negative regulation of extrinsic apoptotic signaling pathway  (IBA,IDA,IEA)
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  (ISO)
negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway  (ISS)
negative regulation of intrinsic apoptotic signaling pathway  (IBA,IEA)
negative regulation of mitochondrial calcium ion concentration  (ISO)
negative regulation of mitochondrial membrane permeability involved in apoptotic process  (IEA)
negative regulation of muscle atrophy  (IEA)
negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  (IDA)
negative regulation of programmed necrotic cell death  (IEA)
negative regulation of protein targeting to mitochondrion  (ISO)
negative regulation of release of cytochrome c from mitochondria  (IBA,IDA,IEA)
negative regulation of striated muscle cell apoptotic process  (IEA)
negative regulation of tumor necrosis factor-mediated signaling pathway  (IEA)
protein complex oligomerization  (IDA)
regulation of apoptotic process  (IEA)
regulation of gene expression  (IEA,ISO)
regulation of non-canonical NF-kappaB signal transduction  (IEA)
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  (ISO)
release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  (IDA)
response to hypoxia  (IEA,ISO)
response to injury involved in regulation of muscle adaptation  (IEA,ISO)
response to ischemia  (IEA)
RNA splicing  (IEA,TAS)
smooth muscle cell proliferation  (ISO)

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (TAS)
membrane  (IEA)
mitochondrion  (IBA,IEA,ISS)
nucleolus  (IDA,IEA,TAS)
nucleus  (IEA)
sarcoplasm  (IEA)
sarcoplasmic reticulum  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:9560245   PMID:10196175   PMID:12191471   PMID:12477932   PMID:12734105   PMID:14702039   PMID:15004034   PMID:15342556   PMID:15383280   PMID:15489334   PMID:15509781   PMID:15848180  
PMID:15861191   PMID:16189514   PMID:16344560   PMID:16505176   PMID:17142452   PMID:17353931   PMID:18087040   PMID:18172857   PMID:18245485   PMID:18469522   PMID:18516683   PMID:18976975  
PMID:19490893   PMID:19773279   PMID:19913121   PMID:20392691   PMID:20628086   PMID:21041716   PMID:21044950   PMID:21873635   PMID:22037876   PMID:22082675   PMID:22475487   PMID:22863883  
PMID:22926851   PMID:22933109   PMID:23877130   PMID:24763054   PMID:25079338   PMID:25344068   PMID:25416956   PMID:25457551   PMID:26721253   PMID:26760575   PMID:27488634   PMID:28232469  
PMID:28464919   PMID:28986522   PMID:32296183   PMID:32771410   PMID:32814053   PMID:32816906   PMID:33579312   PMID:36215168   PMID:36724073  


Genomics

Comparative Map Data
NOL3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381667,170,538 - 67,175,737 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1667,170,154 - 67,175,737 (+)EnsemblGRCh38hg38GRCh38
GRCh371667,204,441 - 67,209,640 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361665,765,371 - 65,767,127 (+)NCBINCBI36Build 36hg18NCBI36
Build 341665,765,370 - 65,767,125NCBI
Celera1651,712,649 - 51,717,887 (+)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1653,077,589 - 53,082,828 (+)NCBIHuRef
CHM1_11668,611,732 - 68,616,967 (+)NCBICHM1_1
T2T-CHM13v2.01672,964,831 - 72,970,031 (+)NCBIT2T-CHM13v2.0
Nol3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398106,002,777 - 106,008,571 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8106,002,772 - 106,008,571 (+)EnsemblGRCm39 Ensembl
GRCm388105,276,145 - 105,281,939 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8105,276,140 - 105,281,939 (+)EnsemblGRCm38mm10GRCm38
MGSCv378107,800,347 - 107,805,839 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368108,165,576 - 108,171,068 (+)NCBIMGSCv36mm8
Celera8109,499,596 - 109,505,088 (+)NCBICelera
Cytogenetic Map8D3NCBI
cM Map853.04NCBI
Nol3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81950,066,493 - 50,068,175 (+)NCBIGRCr8
mRatBN7.21933,154,061 - 33,158,250 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1933,154,062 - 33,158,250 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1939,972,172 - 39,973,839 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01940,625,491 - 40,627,158 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01942,914,430 - 42,916,067 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01937,232,567 - 37,236,668 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1937,235,001 - 37,236,649 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01948,098,203 - 48,102,390 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41935,094,345 - 35,096,012 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11935,099,225 - 35,100,893 (+)NCBI
Celera1932,585,344 - 32,587,011 (+)NCBICelera
Cytogenetic Map19q11NCBI
Nol3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554849,443,090 - 9,447,095 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554849,443,090 - 9,447,142 (-)NCBIChiLan1.0ChiLan1.0
NOL3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21876,700,244 - 76,705,501 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11682,612,801 - 82,618,419 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01647,516,156 - 47,521,441 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11666,904,738 - 66,909,956 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1666,904,738 - 66,909,956 (+)Ensemblpanpan1.1panPan2
Nol3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934941,940,899 - 41,944,816 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647517,644,653 - 17,648,211 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647517,644,299 - 17,648,213 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NOL3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1560,281,492 - 60,286,865 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604723,033,169 - 23,039,019 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in NOL3
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001276309.3(NOL3):c.61G>C (p.Glu21Gln) single nucleotide variant Myoclonus, familial, 1 [RCV000033024] Chr16:67174230 [GRCh38]
Chr16:67208133 [GRCh37]
Chr16:16q22.1
pathogenic|uncertain significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2
pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 copy number gain See cases [RCV000052408] Chr16:58456122..74708723 [GRCh38]
Chr16:58490026..74742621 [GRCh37]
Chr16:57047527..73300122 [NCBI36]
Chr16:16q21-23.1
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1 copy number loss See cases [RCV000053333] Chr16:62179331..67770414 [GRCh38]
Chr16:62213235..67804317 [GRCh37]
Chr16:60770736..66361818 [NCBI36]
Chr16:16q21-22.1
pathogenic
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|See cases [RCV000053334] Chr16:63318997..70555249 [GRCh38]
Chr16:63352901..70589152 [GRCh37]
Chr16:61910402..69146653 [NCBI36]
Chr16:16q21-22.1
pathogenic
GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1 copy number loss See cases [RCV000053335] Chr16:64311275..68062011 [GRCh38]
Chr16:64345179..68095914 [GRCh37]
Chr16:62902680..66653415 [NCBI36]
Chr16:16q21-22.1
pathogenic
GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1 copy number loss See cases [RCV000053336] Chr16:66694180..67865445 [GRCh38]
Chr16:66728083..67899348 [GRCh37]
Chr16:65285584..66456849 [NCBI36]
Chr16:16q22.1
pathogenic
GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1 copy number loss See cases [RCV000134709] Chr16:66245888..67473023 [GRCh38]
Chr16:66279791..67506926 [GRCh37]
Chr16:64837292..66064427 [NCBI36]
Chr16:16q21-22.1
pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1
pathogenic
GRCh38/hg38 16q22.1(chr16:66893204-67357178)x3 copy number gain See cases [RCV000137368] Chr16:66893204..67357178 [GRCh38]
Chr16:66927107..67391081 [GRCh37]
Chr16:65484608..65948582 [NCBI36]
Chr16:16q22.1
likely pathogenic|uncertain significance
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q22.1(chr16:66921669-67312444)x3 copy number gain See cases [RCV000142764] Chr16:66921669..67312444 [GRCh38]
Chr16:66955572..67346347 [GRCh37]
Chr16:65513073..65903848 [NCBI36]
Chr16:16q22.1
uncertain significance
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1
pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Ductal breast carcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2
likely pathogenic|uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
NM_001276309.3(NOL3):c.333C>A (p.Gly111=) single nucleotide variant Inborn genetic diseases [RCV003267604] Chr16:67174658 [GRCh38]
Chr16:67208561 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3 copy number gain See cases [RCV000510388] Chr16:66537021..67369281 [GRCh37]
Chr16:16q21-22.1
uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q22.1(chr16:67132790-68166320) copy number loss not provided [RCV000767617] Chr16:67132790..68166320 [GRCh37]
Chr16:16q22.1
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3
pathogenic
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q22.1(chr16:67180171-67234134)x1 copy number loss not provided [RCV000739191] Chr16:67180171..67234134 [GRCh37]
Chr16:16q22.1
benign
GRCh37/hg19 16q22.1(chr16:67181999-67233266)x3 copy number gain not provided [RCV000739192] Chr16:67181999..67233266 [GRCh37]
Chr16:16q22.1
benign
NM_001276309.3(NOL3):c.453G>A (p.Glu151=) single nucleotide variant Inborn genetic diseases [RCV003267913] Chr16:67174778 [GRCh38]
Chr16:67208681 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001276309.3(NOL3):c.154C>A (p.Pro52Thr) single nucleotide variant Inborn genetic diseases [RCV003268157] Chr16:67174323 [GRCh38]
Chr16:67208226 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001276309.3(NOL3):c.342G>C (p.Thr114=) single nucleotide variant Inborn genetic diseases [RCV002539311]|not provided [RCV000882553] Chr16:67174667 [GRCh38]
Chr16:67208570 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_001276309.3(NOL3):c.555G>A (p.Pro185=) single nucleotide variant not provided [RCV000996284] Chr16:67174880 [GRCh38]
Chr16:67208783 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1 copy number loss not provided [RCV001006797] Chr16:65669673..70180183 [GRCh37]
Chr16:16q21-22.1
pathogenic
NC_000016.9:g.(?_65821800)_(67208957_?)del deletion Cataract 5 multiple types [RCV003107427]|not provided [RCV003122561] Chr16:65821800..67208957 [GRCh37]
Chr16:16q21-22.1
pathogenic|no classifications from unflagged records
NM_001276309.3(NOL3):c.331G>A (p.Gly111Ser) single nucleotide variant not provided [RCV000890108] Chr16:67174656 [GRCh38]
Chr16:67208559 [GRCh37]
Chr16:16q22.1
likely benign
NM_001276309.3(NOL3):c.585C>T (p.Pro195=) single nucleotide variant Inborn genetic diseases [RCV003295174] Chr16:67174910 [GRCh38]
Chr16:67208813 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3
not provided
NM_001276309.3(NOL3):c.383C>A (p.Pro128His) single nucleotide variant Myoclonus, familial, 1 [RCV001335800] Chr16:67174708 [GRCh38]
Chr16:67208611 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_003946.6(NOL3):c.449del (p.Pro150fs) deletion Myoclonus, familial 1 [RCV001335801] Chr16:67174771 [GRCh38]
Chr16:67208674 [GRCh37]
Chr16:16q22.1
pathogenic
NM_003946.6(NOL3):c.489dup (p.Glu164fs) duplication Myoclonus, familial 1 [RCV001335802] Chr16:67174811..67174812 [GRCh38]
Chr16:67208714..67208715 [GRCh37]
Chr16:16q22.1
pathogenic
NC_000016.9:g.(?_66545871)_(72146396_?)dup duplication Dyskeratosis congenita, autosomal dominant 6 [RCV001900384]|Immunodeficiency [RCV001900385]|not provided [RCV001900386] Chr16:66545871..72146396 [GRCh37]
Chr16:16q21-22.2
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
NC_000016.9:g.(?_65821800)_(72146396_?)del deletion Dyskeratosis congenita, autosomal dominant 6 [RCV003122496] Chr16:65821800..72146396 [GRCh37]
Chr16:16q21-22.2
uncertain significance
NM_001276309.3(NOL3):c.475_528del (p.Ala159_Glu176del) deletion not specified [RCV002470051] Chr16:67174778..67174831 [GRCh38]
Chr16:67208681..67208734 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001276309.3(NOL3):c.609C>A (p.Asp203Glu) single nucleotide variant Inborn genetic diseases [RCV002688163] Chr16:67174934 [GRCh38]
Chr16:67208837 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001276309.3(NOL3):c.350C>T (p.Ala117Val) single nucleotide variant Inborn genetic diseases [RCV002763440] Chr16:67174675 [GRCh38]
Chr16:67208578 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001276309.3(NOL3):c.95A>G (p.Asp32Gly) single nucleotide variant Inborn genetic diseases [RCV002986777] Chr16:67174264 [GRCh38]
Chr16:67208167 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001276309.3(NOL3):c.182T>C (p.Leu61Pro) single nucleotide variant Inborn genetic diseases [RCV002984229] Chr16:67174351 [GRCh38]
Chr16:67208254 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001276309.3(NOL3):c.297C>A (p.Gly99=) single nucleotide variant Inborn genetic diseases [RCV003344348] Chr16:67174622 [GRCh38]
Chr16:67208525 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001276309.3(NOL3):c.199G>A (p.Gly67Ser) single nucleotide variant not specified [RCV003331810] Chr16:67174368 [GRCh38]
Chr16:67208271 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001276309.3(NOL3):c.483C>T (p.Ala161=) single nucleotide variant Inborn genetic diseases [RCV003381666] Chr16:67174808 [GRCh38]
Chr16:67208711 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001276309.3(NOL3):c.-8-158C>T single nucleotide variant not specified [RCV003479554] Chr16:67174004 [GRCh38]
Chr16:67207907 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16q21-22.1(chr16:66110708-67240652)x3 copy number gain not provided [RCV003485115] Chr16:66110708..67240652 [GRCh37]
Chr16:16q21-22.1
uncertain significance
NM_001276309.3(NOL3):c.547C>T (p.Pro183Ser) single nucleotide variant NOL3-related condition [RCV003397715] Chr16:67174872 [GRCh38]
Chr16:67208775 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001276309.3(NOL3):c.-8-14C>T single nucleotide variant not specified [RCV003404921] Chr16:67174148 [GRCh38]
Chr16:67208051 [GRCh37]
Chr16:16q22.1
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3704
Count of miRNA genes:891
Interacting mature miRNAs:1094
Transcripts:ENST00000268605, ENST00000432069, ENST00000563258, ENST00000563439, ENST00000564053, ENST00000564860, ENST00000564992, ENST00000565560, ENST00000565645, ENST00000566871, ENST00000568086, ENST00000568146, ENST00000568199, ENST00000568503
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
NOL3_7932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,209,061 - 67,209,763UniSTSGRCh37
Build 361665,766,562 - 65,767,264RGDNCBI36
Celera1651,717,305 - 51,718,007RGD
HuRef1653,082,249 - 53,082,951UniSTS
WI-20202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371810,727,809 - 10,727,933UniSTSGRCh37
GRCh371667,209,527 - 67,209,801UniSTSGRCh37
Build 361665,767,028 - 65,767,302RGDNCBI36
Celera1810,609,686 - 10,609,810UniSTS
Celera1651,717,771 - 51,718,045RGD
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.22UniSTS
HuRef1653,082,715 - 53,082,989UniSTS
HuRef1810,681,852 - 10,681,976UniSTS
GeneMap99-GB4 RH Map16403.52UniSTS
Whitehead-RH Map16299.5UniSTS
NCBI RH Map16508.6UniSTS
RH47869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,208,819 - 67,209,040UniSTSGRCh37
Build 361665,766,320 - 65,766,541RGDNCBI36
Celera1651,717,063 - 51,717,284RGD
Cytogenetic Map16q22.1UniSTS
HuRef1653,082,007 - 53,082,228UniSTS
GeneMap99-GB4 RH Map16400.36UniSTS
NCBI RH Map16508.6UniSTS
D16S3308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,209,565 - 67,209,666UniSTSGRCh37
Build 361665,767,066 - 65,767,167RGDNCBI36
Celera1651,717,809 - 51,717,910RGD
Cytogenetic Map16q22.1UniSTS
HuRef1653,082,753 - 53,082,854UniSTS
TNG Radiation Hybrid Map1628869.0UniSTS
Stanford-G3 RH Map162519.0UniSTS
GeneMap99-G3 RH Map162963.0UniSTS
RH41857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,209,007 - 67,209,083UniSTSGRCh37
Build 361665,766,508 - 65,766,584RGDNCBI36
Celera1651,717,251 - 51,717,327RGD
Cytogenetic Map16q22.1UniSTS
HuRef1653,082,195 - 53,082,271UniSTS
GeneMap99-GB4 RH Map16401.72UniSTS
NCBI RH Map16508.6UniSTS
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS


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 2341 2150 1572 476 703 318 4150 2106 3312 306 1143 1596 169 1193 2784 3
Low 92 809 153 148 1168 147 206 90 416 113 313 16 5 1 11 4 1 2
Below cutoff 32 1 78 5 4 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001185057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC074143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF043244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF064598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF064599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF064600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF568452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP215200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ685512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB959673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA370107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA928396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000268605   ⟹   ENSP00000268605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,170,497 - 67,175,735 (+)Ensembl
RefSeq Acc Id: ENST00000563258   ⟹   ENSP00000463698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,173,984 - 67,175,453 (+)Ensembl
RefSeq Acc Id: ENST00000563439   ⟹   ENSP00000454256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,170,497 - 67,174,741 (+)Ensembl
RefSeq Acc Id: ENST00000564053   ⟹   ENSP00000457243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,170,540 - 67,175,485 (+)Ensembl
RefSeq Acc Id: ENST00000564860   ⟹   ENSP00000463685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,174,844 - 67,175,260 (+)Ensembl
RefSeq Acc Id: ENST00000564992   ⟹   ENSP00000457720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,170,538 - 67,175,737 (+)Ensembl
RefSeq Acc Id: ENST00000565560   ⟹   ENSP00000457732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,170,154 - 67,174,848 (+)Ensembl
RefSeq Acc Id: ENST00000565645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,170,542 - 67,173,929 (+)Ensembl
RefSeq Acc Id: ENST00000566871   ⟹   ENSP00000455808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,173,951 - 67,175,199 (+)Ensembl
RefSeq Acc Id: ENST00000568086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,170,502 - 67,171,656 (+)Ensembl
RefSeq Acc Id: ENST00000568146   ⟹   ENSP00000454598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,174,002 - 67,175,735 (+)Ensembl
RefSeq Acc Id: ENST00000568199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,171,634 - 67,173,003 (+)Ensembl
RefSeq Acc Id: ENST00000568503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,173,954 - 67,175,681 (+)Ensembl
RefSeq Acc Id: NM_001185057   ⟹   NP_001171986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,173,944 - 67,175,737 (+)NCBI
GRCh371667,204,400 - 67,209,640 (+)NCBI
HuRef1653,077,589 - 53,082,828 (+)NCBI
CHM1_11668,615,083 - 68,616,967 (+)NCBI
T2T-CHM13v2.01672,968,238 - 72,970,031 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001276307   ⟹   NP_001263236
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,170,538 - 67,175,737 (+)NCBI
GRCh371667,204,400 - 67,209,640 (+)NCBI
HuRef1653,077,589 - 53,082,828 (+)NCBI
CHM1_11668,611,732 - 68,616,967 (+)NCBI
T2T-CHM13v2.01672,964,831 - 72,970,031 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001276309   ⟹   NP_001263238
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,170,538 - 67,175,737 (+)NCBI
GRCh371667,204,400 - 67,209,640 (+)NCBI
HuRef1653,077,589 - 53,082,828 (+)NCBI
CHM1_11668,611,732 - 68,616,967 (+)NCBI
T2T-CHM13v2.01672,964,831 - 72,970,031 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001276311   ⟹   NP_001263240
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,173,944 - 67,175,737 (+)NCBI
GRCh371667,204,400 - 67,209,640 (+)NCBI
HuRef1653,077,589 - 53,082,828 (+)NCBI
CHM1_11668,615,083 - 68,616,967 (+)NCBI
T2T-CHM13v2.01672,968,238 - 72,970,031 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001276312   ⟹   NP_001263241
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,170,538 - 67,175,737 (+)NCBI
GRCh371667,204,400 - 67,209,640 (+)NCBI
HuRef1653,077,589 - 53,082,828 (+)NCBI
CHM1_11668,611,732 - 68,616,967 (+)NCBI
T2T-CHM13v2.01672,964,831 - 72,970,031 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394973   ⟹   NP_001381902
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,170,538 - 67,175,737 (+)NCBI
T2T-CHM13v2.01672,964,831 - 72,970,031 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394974   ⟹   NP_001381903
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,170,538 - 67,175,737 (+)NCBI
T2T-CHM13v2.01672,964,831 - 72,970,031 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394975   ⟹   NP_001381904
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,170,538 - 67,175,737 (+)NCBI
T2T-CHM13v2.01672,964,831 - 72,970,031 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394976   ⟹   NP_001381905
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,170,538 - 67,175,737 (+)NCBI
T2T-CHM13v2.01672,964,831 - 72,970,031 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394977   ⟹   NP_001381906
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,170,538 - 67,175,737 (+)NCBI
T2T-CHM13v2.01672,964,831 - 72,970,031 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394978   ⟹   NP_001381907
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,170,538 - 67,175,737 (+)NCBI
T2T-CHM13v2.01672,964,831 - 72,970,031 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394979   ⟹   NP_001381908
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,170,538 - 67,175,737 (+)NCBI
T2T-CHM13v2.01672,964,831 - 72,970,031 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003946   ⟹   NP_003937
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,173,944 - 67,175,737 (+)NCBI
GRCh371667,204,400 - 67,209,640 (+)NCBI
Build 361665,765,371 - 65,767,127 (+)NCBI Archive
HuRef1653,077,589 - 53,082,828 (+)NCBI
CHM1_11668,615,083 - 68,616,967 (+)NCBI
T2T-CHM13v2.01672,968,238 - 72,970,031 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434850   ⟹   XP_047290806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,173,944 - 67,175,737 (+)NCBI
RefSeq Acc Id: XM_047434851   ⟹   XP_047290807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,170,538 - 67,175,737 (+)NCBI
RefSeq Acc Id: XM_047434852   ⟹   XP_047290808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,170,538 - 67,175,737 (+)NCBI
RefSeq Acc Id: XM_054314288   ⟹   XP_054170263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01672,968,238 - 72,970,031 (+)NCBI
RefSeq Acc Id: XM_054314289   ⟹   XP_054170264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01672,964,831 - 72,970,031 (+)NCBI
RefSeq Acc Id: XM_054314290   ⟹   XP_054170265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01672,964,831 - 72,970,031 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001171986 (Get FASTA)   NCBI Sequence Viewer  
  NP_001263236 (Get FASTA)   NCBI Sequence Viewer  
  NP_001263238 (Get FASTA)   NCBI Sequence Viewer  
  NP_001263240 (Get FASTA)   NCBI Sequence Viewer  
  NP_001263241 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381902 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381903 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381904 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381905 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381906 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381907 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381908 (Get FASTA)   NCBI Sequence Viewer  
  NP_003937 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290806 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290807 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290808 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170263 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170264 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170265 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC18590 (Get FASTA)   NCBI Sequence Viewer  
  AAC18591 (Get FASTA)   NCBI Sequence Viewer  
  AAC18593 (Get FASTA)   NCBI Sequence Viewer  
  AAC18594 (Get FASTA)   NCBI Sequence Viewer  
  AAC34993 (Get FASTA)   NCBI Sequence Viewer  
  AAH12798 (Get FASTA)   NCBI Sequence Viewer  
  AAV38960 (Get FASTA)   NCBI Sequence Viewer  
  BAG37413 (Get FASTA)   NCBI Sequence Viewer  
  BAG57471 (Get FASTA)   NCBI Sequence Viewer  
  EAW83087 (Get FASTA)   NCBI Sequence Viewer  
  EAW83088 (Get FASTA)   NCBI Sequence Viewer  
  EAW83089 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000454256.1
  ENSP00000454598
  ENSP00000454598.1
  ENSP00000455808
  ENSP00000455808.1
  ENSP00000457243
  ENSP00000457243.2
  ENSP00000457720
  ENSP00000457720.2
  ENSP00000457732.1
  ENSP00000463685.1
  ENSP00000463698.1
GenBank Protein O60936 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_003937   ⟸   NM_003946
- Peptide Label: isoform MYP
- UniProtKB: B4DFL0 (UniProtKB/Swiss-Prot),   O60937 (UniProtKB/Swiss-Prot),   O60936 (UniProtKB/Swiss-Prot),   Q5TZN6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171986   ⟸   NM_001185057
- Peptide Label: isoform Nop30
- UniProtKB: H3BQJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001263241   ⟸   NM_001276312
- Peptide Label: isoform MYP
- UniProtKB: B4DFL0 (UniProtKB/Swiss-Prot),   O60937 (UniProtKB/Swiss-Prot),   O60936 (UniProtKB/Swiss-Prot),   Q5TZN6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001263236   ⟸   NM_001276307
- Peptide Label: isoform MYP
- UniProtKB: B4DFL0 (UniProtKB/Swiss-Prot),   O60937 (UniProtKB/Swiss-Prot),   O60936 (UniProtKB/Swiss-Prot),   Q5TZN6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001263238   ⟸   NM_001276309
- Peptide Label: isoform MYP
- UniProtKB: B4DFL0 (UniProtKB/Swiss-Prot),   O60937 (UniProtKB/Swiss-Prot),   O60936 (UniProtKB/Swiss-Prot),   Q5TZN6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001263240   ⟸   NM_001276311
- Peptide Label: isoform C
- UniProtKB: H3BQJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000268605   ⟸   ENST00000268605
RefSeq Acc Id: ENSP00000454256   ⟸   ENST00000563439
RefSeq Acc Id: ENSP00000463698   ⟸   ENST00000563258
RefSeq Acc Id: ENSP00000457243   ⟸   ENST00000564053
RefSeq Acc Id: ENSP00000457720   ⟸   ENST00000564992
RefSeq Acc Id: ENSP00000463685   ⟸   ENST00000564860
RefSeq Acc Id: ENSP00000457732   ⟸   ENST00000565560
RefSeq Acc Id: ENSP00000455808   ⟸   ENST00000566871
RefSeq Acc Id: ENSP00000454598   ⟸   ENST00000568146
RefSeq Acc Id: NP_001381902   ⟸   NM_001394973
- Peptide Label: isoform MYP
- UniProtKB: O60936 (UniProtKB/Swiss-Prot),   B4DFL0 (UniProtKB/Swiss-Prot),   O60937 (UniProtKB/Swiss-Prot),   Q5TZN6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381904   ⟸   NM_001394975
- Peptide Label: isoform C
- UniProtKB: H3BQJ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381907   ⟸   NM_001394978
- Peptide Label: isoform Nop30
- UniProtKB: H3BQJ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381905   ⟸   NM_001394976
- Peptide Label: isoform C
- UniProtKB: H3BQJ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381908   ⟸   NM_001394979
- Peptide Label: isoform E
RefSeq Acc Id: NP_001381906   ⟸   NM_001394977
- Peptide Label: isoform Nop30
- UniProtKB: H3BQJ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381903   ⟸   NM_001394974
- Peptide Label: isoform C
- UniProtKB: H3BQJ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047290807   ⟸   XM_047434851
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047290808   ⟸   XM_047434852
- Peptide Label: isoform X3
- UniProtKB: O60936 (UniProtKB/Swiss-Prot),   B4DFL0 (UniProtKB/Swiss-Prot),   O60937 (UniProtKB/Swiss-Prot),   Q5TZN6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047290806   ⟸   XM_047434850
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054170264   ⟸   XM_054314289
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054170265   ⟸   XM_054314290
- Peptide Label: isoform X3
- UniProtKB: O60937 (UniProtKB/Swiss-Prot),   O60936 (UniProtKB/Swiss-Prot),   B4DFL0 (UniProtKB/Swiss-Prot),   Q5TZN6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170263   ⟸   XM_054314288
- Peptide Label: isoform X1
Protein Domains
CARD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O60936-F1-model_v2 AlphaFold O60936 1-208 view protein structure

Promoters
RGD ID:6793331
Promoter ID:HG_KWN:24015
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   Lymphoblastoid,   NB4
Transcripts:NM_003946,   UC002ERQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361665,765,206 - 65,765,852 (+)MPROMDB
RGD ID:7232505
Promoter ID:EPDNEW_H21997
Type:initiation region
Name:NOL3_2
Description:nucleolar protein 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21998  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,170,093 - 67,170,153EPDNEW
RGD ID:7232503
Promoter ID:EPDNEW_H21998
Type:initiation region
Name:NOL3_1
Description:nucleolar protein 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21997  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,173,945 - 67,174,005EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7869 AgrOrtholog
COSMIC NOL3 COSMIC
Ensembl Genes ENSG00000140939 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000563258.1 UniProtKB/TrEMBL
  ENST00000563439.5 UniProtKB/TrEMBL
  ENST00000564053 ENTREZGENE
  ENST00000564053.5 UniProtKB/Swiss-Prot
  ENST00000564860.1 UniProtKB/TrEMBL
  ENST00000564992 ENTREZGENE
  ENST00000564992.2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000565560.5 UniProtKB/TrEMBL
  ENST00000566871 ENTREZGENE
  ENST00000566871.5 UniProtKB/TrEMBL
  ENST00000568146 ENTREZGENE
  ENST00000568146.1 UniProtKB/Swiss-Prot
  ENST00000568503 ENTREZGENE
Gene3D-CATH 1.10.533.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000140939 GTEx
HGNC ID HGNC:7869 ENTREZGENE
Human Proteome Map NOL3 Human Proteome Map
InterPro CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEATH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8996 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8996 ENTREZGENE
OMIM 605235 OMIM
PANTHER CARD6/NUCLEOLAR PROTEIN 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUCLEOLAR PROTEIN 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31673 PharmGKB
PROSITE CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47986 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DFL0 ENTREZGENE
  H3BM67_HUMAN UniProtKB/TrEMBL
  H3BQJ5 ENTREZGENE, UniProtKB/TrEMBL
  H3BUN4_HUMAN UniProtKB/TrEMBL
  H3BUP2_HUMAN UniProtKB/TrEMBL
  J3QLS5_HUMAN UniProtKB/TrEMBL
  J3QLT7_HUMAN UniProtKB/TrEMBL
  NOL3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  O60937 ENTREZGENE
  Q5TZN6 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B4DFL0 UniProtKB/Swiss-Prot
  O60937 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 NOL3  nucleolar protein 3    nucleolar protein 3 (apoptosis repressor with CARD domain)  Symbol and/or name change 5135510 APPROVED