NAV3 (neuron navigator 3) - Rat Genome Database

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Gene: NAV3 (neuron navigator 3) Homo sapiens
Analyze
Symbol: NAV3
Name: neuron navigator 3
RGD ID: 1314915
HGNC Page HGNC:15998
Description: Enables microtubule binding activity. Involved in negative regulation of cell migration; negative regulation of interleukin-2 production; and regulation of microtubule polymerization or depolymerization. Located in microtubule end. Implicated in opiate dependence.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: KIAA0938; POMFIL1; pore membrane and/or filament interacting like protein 1; pore membrane and/or filament-interacting-like protein 1; steerin 3; steerin-3; STEERIN3; unc-53 homolog 3; unc53H3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381277,571,862 - 78,213,010 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1277,324,641 - 78,213,010 (+)EnsemblGRCh38hg38GRCh38
GRCh371278,224,674 - 78,606,790 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361276,749,200 - 77,130,921 (+)NCBINCBI36Build 36hg18NCBI36
Build 341276,727,664 - 77,108,408NCBI
Celera1277,890,812 - 78,272,363 (+)NCBICelera
Cytogenetic Map12q21.2NCBI
HuRef1275,278,625 - 75,660,456 (+)NCBIHuRef
CHM1_11278,191,333 - 78,573,061 (+)NCBICHM1_1
T2T-CHM13v2.01277,549,793 - 78,191,344 (+)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)
1,1-dichloroethene  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-hydroxypropanoic acid  (EXP)
2-palmitoylglycerol  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
calcitriol  (EXP)
carbon nanotube  (EXP)
CGP 52608  (EXP)
chlordecone  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
folic acid  (EXP)
formaldehyde  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
gallic acid  (EXP)
genistein  (ISO)
ketamine  (ISO)
lipopolysaccharide  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
methapyrilene  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
nickel sulfate  (EXP)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
PD 0325901  (EXP)
pentanal  (EXP)
potassium dichromate  (ISO)
progesterone  (EXP)
propanal  (EXP)
rac-lactic acid  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sotorasib  (EXP)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thimerosal  (EXP)
trametinib  (EXP)
trichostatin A  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Substance dependence low-density whole genome association study in two distinct American populations. Yu Y, etal., Hum Genet. 2008 Jun;123(5):495-506. doi: 10.1007/s00439-008-0501-0. Epub 2008 Apr 26.
Additional References at PubMed
PMID:8889548   PMID:10231032   PMID:12062803   PMID:12079279   PMID:12477932   PMID:14702039   PMID:15158073   PMID:16166283   PMID:18337827   PMID:18509363   PMID:19247474   PMID:19490893  
PMID:19505873   PMID:19626031   PMID:19913121   PMID:20379614   PMID:20628086   PMID:20707712   PMID:20936779   PMID:21873635   PMID:21995814   PMID:22173670   PMID:23049088   PMID:23097141  
PMID:24057671   PMID:25065758   PMID:25678558   PMID:26210448   PMID:30021884   PMID:31586073   PMID:31903119   PMID:33961781   PMID:34732716   PMID:35914814   PMID:36883877  


Genomics

Comparative Map Data
NAV3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381277,571,862 - 78,213,010 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1277,324,641 - 78,213,010 (+)EnsemblGRCh38hg38GRCh38
GRCh371278,224,674 - 78,606,790 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361276,749,200 - 77,130,921 (+)NCBINCBI36Build 36hg18NCBI36
Build 341276,727,664 - 77,108,408NCBI
Celera1277,890,812 - 78,272,363 (+)NCBICelera
Cytogenetic Map12q21.2NCBI
HuRef1275,278,625 - 75,660,456 (+)NCBIHuRef
CHM1_11278,191,333 - 78,573,061 (+)NCBICHM1_1
T2T-CHM13v2.01277,549,793 - 78,191,344 (+)NCBIT2T-CHM13v2.0
Nav3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910109,517,121 - 110,292,148 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl10109,517,120 - 110,292,065 (-)EnsemblGRCm39 Ensembl
GRCm3810109,681,260 - 110,455,722 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10109,681,259 - 110,456,204 (-)EnsemblGRCm38mm10GRCm38
MGSCv3710109,120,495 - 109,437,275 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3610109,120,495 - 109,437,275 (-)NCBIMGSCv36mm8
Celera10111,625,829 - 111,937,317 (-)NCBICelera
Cytogenetic Map10D1NCBI
cM Map1057.18NCBI
Nav3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8746,938,577 - 47,726,839 (-)NCBIGRCr8
mRatBN7.2745,052,206 - 45,840,471 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl745,054,296 - 45,840,698 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx746,971,991 - 47,300,504 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0749,175,089 - 49,503,591 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0748,952,850 - 49,281,357 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0752,164,805 - 52,508,145 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl752,165,233 - 52,404,774 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0752,174,059 - 52,510,816 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4748,505,502 - 48,862,109 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1748,681,551 - 48,882,272 (-)NCBI
Celera741,897,661 - 42,222,850 (-)NCBICelera
Cytogenetic Map7q21NCBI
Nav3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540516,869,441 - 17,213,325 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540516,428,643 - 17,213,253 (+)NCBIChiLan1.0ChiLan1.0
NAV3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21085,351,778 - 86,244,699 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11285,348,180 - 86,241,091 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01274,835,566 - 75,724,859 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11277,934,165 - 78,576,240 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1278,192,076 - 78,573,746 (+)Ensemblpanpan1.1panPan2
NAV3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11519,931,037 - 20,937,244 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1520,581,709 - 20,935,007 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1520,600,910 - 21,419,035 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01520,456,514 - 21,275,505 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1520,919,569 - 21,274,597 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11520,518,315 - 20,874,199 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01520,113,721 - 20,933,335 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01520,983,885 - 21,173,307 (+)NCBIUU_Cfam_GSD_1.0
Nav3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494539,453,343 - 40,242,390 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365685,920,421 - 6,275,133 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365685,694,326 - 6,275,112 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NAV3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl5103,013,806 - 103,368,021 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.15103,013,798 - 103,863,222 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.25108,177,031 - 108,232,183 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NAV3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11172,891,767 - 73,780,924 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037171,659,909 - 172,574,616 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nav3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475019,964,847 - 20,313,424 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475019,963,321 - 20,792,249 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NAV3
123 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q21.2-21.31(chr12:75683698-80195649)x1 copy number loss See cases [RCV000050867] Chr12:75683698..80195649 [GRCh38]
Chr12:76077478..80589429 [GRCh37]
Chr12:74363745..79113560 [NCBI36]
Chr12:12q21.2-21.31		 pathogenic
GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1 copy number loss See cases [RCV000051313] Chr12:70337484..81761145 [GRCh38]
Chr12:70731264..82154924 [GRCh37]
Chr12:69017531..80679055 [NCBI36]
Chr12:12q15-21.31		 pathogenic
GRCh38/hg38 12q15-21.2(chr12:70390897-79214318)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051314]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051314]|See cases [RCV000051314] Chr12:70390897..79214318 [GRCh38]
Chr12:70784677..79608098 [GRCh37]
Chr12:69070944..78132229 [NCBI36]
Chr12:12q15-21.2		 pathogenic
GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3 copy number gain See cases [RCV000053684] Chr12:77564757..85370822 [GRCh38]
Chr12:77958537..85764600 [GRCh37]
Chr12:76482668..84288731 [NCBI36]
Chr12:12q21.2-21.31		 pathogenic
NM_014903.5(NAV3):c.1873C>T (p.Pro625Ser) single nucleotide variant Malignant melanoma [RCV000070219] Chr12:78007411 [GRCh38]
Chr12:78401191 [GRCh37]
Chr12:76925322 [NCBI36]
Chr12:12q21.2		 not provided
NM_014903.5(NAV3):c.2308C>T (p.Arg770Ter) single nucleotide variant Malignant melanoma [RCV000070221] Chr12:78050939 [GRCh38]
Chr12:78444719 [GRCh37]
Chr12:76968850 [NCBI36]
Chr12:12q21.2		 not provided
NM_014903.5(NAV3):c.2353C>T (p.Leu785Phe) single nucleotide variant Malignant melanoma [RCV000070222] Chr12:78050984 [GRCh38]
Chr12:78444764 [GRCh37]
Chr12:76968895 [NCBI36]
Chr12:12q21.2		 not provided
NM_014903.5(NAV3):c.6993C>T (p.Leu2331=) single nucleotide variant Malignant melanoma [RCV000070223] Chr12:78210418 [GRCh38]
Chr12:78604198 [GRCh37]
Chr12:77128329 [NCBI36]
Chr12:12q21.2		 not provided
NM_014903.5(NAV3):c.6158C>T (p.Thr2053Ile) single nucleotide variant Malignant melanoma [RCV000062607] Chr12:78190152 [GRCh38]
Chr12:78583932 [GRCh37]
Chr12:77108063 [NCBI36]
Chr12:12q21.2		 not provided
NC_000012.12:g.77612845G>T single nucleotide variant Lung cancer [RCV000111315] Chr12:77612845 [GRCh38]
Chr12:78006625 [GRCh37]
Chr12:12q21.2		 uncertain significance
NC_000012.12:g.77619749T>A single nucleotide variant Lung cancer [RCV000111316] Chr12:77619749 [GRCh38]
Chr12:78013529 [GRCh37]
Chr12:12q21.2		 uncertain significance
NC_000012.12:g.77719547C>G single nucleotide variant Lung cancer [RCV000111317] Chr12:77719547 [GRCh38]
Chr12:78113327 [GRCh37]
Chr12:12q21.2		 uncertain significance
NC_000012.12:g.77791045C>A single nucleotide variant Lung cancer [RCV000111318] Chr12:77791045 [GRCh38]
Chr12:78184825 [GRCh37]
Chr12:12q21.2		 uncertain significance
NC_000012.12:g.77811340T>A single nucleotide variant Lung cancer [RCV000111319] Chr12:77811340 [GRCh38]
Chr12:78205120 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.1(NAV3):c.244-45387T>C single nucleotide variant Lung cancer [RCV000111320] Chr12:77894932 [GRCh38]
Chr12:78288712 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.1(NAV3):c.244-31421C>G single nucleotide variant Lung cancer [RCV000111321] Chr12:77908898 [GRCh38]
Chr12:78302678 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.1(NAV3):c.672-2296T>G single nucleotide variant Lung cancer [RCV000111322] Chr12:77992507 [GRCh38]
Chr12:78386287 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.1(NAV3):c.2637-20417G>T single nucleotide variant Lung cancer [RCV000111323] Chr12:78096355 [GRCh38]
Chr12:78490135 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.1(NAV3):c.4441+2407G>T single nucleotide variant Lung cancer [RCV000111324] Chr12:78131273 [GRCh38]
Chr12:78525053 [GRCh37]
Chr12:12q21.2		 uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1 copy number loss See cases [RCV000141023] Chr12:76566873..82021089 [GRCh38]
Chr12:76960653..82414868 [GRCh37]
Chr12:75484784..80938999 [NCBI36]
Chr12:12q21.2-21.31		 likely pathogenic
GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1 copy number loss See cases [RCV000143099] Chr12:73485697..92795805 [GRCh38]
Chr12:73879477..93189581 [GRCh37]
Chr12:72165744..91713712 [NCBI36]
Chr12:12q21.1-22		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_001024383.2(NAV3):c.976C>G (p.Pro326Ala) single nucleotide variant Inborn genetic diseases [RCV003292184] Chr12:78006514 [GRCh38]
Chr12:78400294 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.4528G>A (p.Asp1510Asn) single nucleotide variant Inborn genetic diseases [RCV003252817] Chr12:78137263 [GRCh38]
Chr12:78531043 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.2588G>A (p.Arg863Gln) single nucleotide variant Inborn genetic diseases [RCV003254418] Chr12:78059067 [GRCh38]
Chr12:78452847 [GRCh37]
Chr12:12q21.2		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q15-21.33(chr12:69608090-89629345)x1 copy number loss not provided [RCV000737927] Chr12:69608090..89629345 [GRCh37]
Chr12:12q15-21.33		 pathogenic
GRCh37/hg19 12q21.2(chr12:78048374-78401485)x3 copy number gain not provided [RCV000750474] Chr12:78048374..78401485 [GRCh37]
Chr12:12q21.2		 benign
GRCh37/hg19 12q21.2(chr12:78208294-78259909)x4 copy number gain not provided [RCV000750475] Chr12:78208294..78259909 [GRCh37]
Chr12:12q21.2		 benign
GRCh37/hg19 12q21.2(chr12:78545386-79223955)x1 copy number loss not provided [RCV000750476] Chr12:78545386..79223955 [GRCh37]
Chr12:12q21.2		 benign
NM_001024383.2(NAV3):c.4265C>T (p.Pro1422Leu) single nucleotide variant Inborn genetic diseases [RCV003267625] Chr12:78127193 [GRCh38]
Chr12:78520973 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.7118A>G (p.His2373Arg) single nucleotide variant not provided [RCV000968480] Chr12:78210477 [GRCh38]
Chr12:78604257 [GRCh37]
Chr12:12q21.2		 benign
NM_001024383.2(NAV3):c.1038C>G (p.Thr346=) single nucleotide variant not provided [RCV000923478] Chr12:78006576 [GRCh38]
Chr12:78400356 [GRCh37]
Chr12:12q21.2		 benign
NM_001024383.2(NAV3):c.4890A>G (p.Leu1630=) single nucleotide variant not provided [RCV000971185] Chr12:78168775 [GRCh38]
Chr12:78562555 [GRCh37]
Chr12:12q21.2		 benign
NM_001024383.2(NAV3):c.4471C>A (p.Leu1491Ile) single nucleotide variant not provided [RCV000968257] Chr12:78137206 [GRCh38]
Chr12:78530986 [GRCh37]
Chr12:12q21.2		 benign
NM_001024383.2(NAV3):c.664C>T (p.Gln222Ter) single nucleotide variant Cardiac arrhythmia [RCV003313337] Chr12:77968695 [GRCh38]
Chr12:78362475 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.175A>C (p.Lys59Gln) single nucleotide variant Inborn genetic diseases [RCV003270666] Chr12:77831636 [GRCh38]
Chr12:78225416 [GRCh37]
Chr12:12q21.2		 uncertain significance
GRCh37/hg19 12q21.2(chr12:78338385-79198108)x1 copy number loss not provided [RCV000847728] Chr12:78338385..79198108 [GRCh37]
Chr12:12q21.2		 uncertain significance
GRCh37/hg19 12q21.2(chr12:78338797-79193396)x1 copy number loss not provided [RCV001006515] Chr12:78338797..79193396 [GRCh37]
Chr12:12q21.2		 uncertain significance
GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1 copy number loss not provided [RCV000848027] Chr12:77737623..94330526 [GRCh37]
Chr12:12q21.2-22		 pathogenic
NM_001024383.2(NAV3):c.2279G>A (p.Gly760Asp) single nucleotide variant Inborn genetic diseases [RCV003245511] Chr12:78050910 [GRCh38]
Chr12:78444690 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.5860G>T (p.Asp1954Tyr) single nucleotide variant Inborn genetic diseases [RCV003273037] Chr12:78188317 [GRCh38]
Chr12:78582097 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.4476C>T (p.Pro1492=) single nucleotide variant not provided [RCV000954469] Chr12:78137211 [GRCh38]
Chr12:78530991 [GRCh37]
Chr12:12q21.2		 benign
NM_001024383.2(NAV3):c.2940C>G (p.Ser980=) single nucleotide variant not provided [RCV000974270] Chr12:78118197 [GRCh38]
Chr12:78511977 [GRCh37]
Chr12:12q21.2		 benign
NM_001024383.2(NAV3):c.487+8A>G single nucleotide variant not provided [RCV000954871] Chr12:77966309 [GRCh38]
Chr12:78360089 [GRCh37]
Chr12:12q21.2		 benign
NM_001024383.2(NAV3):c.1248C>T (p.Ala416=) single nucleotide variant not provided [RCV000957098] Chr12:78006786 [GRCh38]
Chr12:78400566 [GRCh37]
Chr12:12q21.2		 benign
NM_001024383.2(NAV3):c.133A>G (p.Thr45Ala) single nucleotide variant not provided [RCV001618898] Chr12:77831594 [GRCh38]
Chr12:78225374 [GRCh37]
Chr12:12q21.2		 benign
NM_001024383.2(NAV3):c.4978A>G (p.Lys1660Glu) single nucleotide variant Inborn genetic diseases [RCV003263420] Chr12:78168863 [GRCh38]
Chr12:78562643 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.2564G>A (p.Arg855Gln) single nucleotide variant Inborn genetic diseases [RCV002817408] Chr12:78059043 [GRCh38]
Chr12:78452823 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.6467T>C (p.Met2156Thr) single nucleotide variant Inborn genetic diseases [RCV002837460] Chr12:78198625 [GRCh38]
Chr12:78592405 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.2258C>T (p.Ala753Val) single nucleotide variant Inborn genetic diseases [RCV002860105] Chr12:78050889 [GRCh38]
Chr12:78444669 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.5291C>T (p.Ala1764Val) single nucleotide variant Inborn genetic diseases [RCV002772714] Chr12:78177307 [GRCh38]
Chr12:78571087 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.605G>A (p.Arg202Gln) single nucleotide variant Inborn genetic diseases [RCV002864859] Chr12:77968636 [GRCh38]
Chr12:78362416 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.1274G>C (p.Gly425Ala) single nucleotide variant Inborn genetic diseases [RCV002778556] Chr12:78006812 [GRCh38]
Chr12:78400592 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.194G>T (p.Gly65Val) single nucleotide variant Inborn genetic diseases [RCV002845287] Chr12:77831655 [GRCh38]
Chr12:78225435 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.6509A>G (p.His2170Arg) single nucleotide variant Inborn genetic diseases [RCV002950570] Chr12:78198667 [GRCh38]
Chr12:78592447 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.1196C>T (p.Pro399Leu) single nucleotide variant Inborn genetic diseases [RCV002692220] Chr12:78006734 [GRCh38]
Chr12:78400514 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.5264C>T (p.Ser1755Leu) single nucleotide variant Inborn genetic diseases [RCV002659976] Chr12:78177280 [GRCh38]
Chr12:78571060 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.3530A>G (p.Lys1177Arg) single nucleotide variant Inborn genetic diseases [RCV002783038] Chr12:78119726 [GRCh38]
Chr12:78513506 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.925G>A (p.Val309Met) single nucleotide variant Inborn genetic diseases [RCV002977207] Chr12:78006463 [GRCh38]
Chr12:78400243 [GRCh37]
Chr12:12q21.2		 likely benign
NM_001024383.2(NAV3):c.1237G>A (p.Asp413Asn) single nucleotide variant Inborn genetic diseases [RCV002691848] Chr12:78006775 [GRCh38]
Chr12:78400555 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.2074T>A (p.Leu692Met) single nucleotide variant Inborn genetic diseases [RCV002707102] Chr12:78050043 [GRCh38]
Chr12:78443823 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.980G>C (p.Ser327Thr) single nucleotide variant Inborn genetic diseases [RCV002869741] Chr12:78006518 [GRCh38]
Chr12:78400298 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.1742C>A (p.Ala581Asp) single nucleotide variant Inborn genetic diseases [RCV002662026] Chr12:78007280 [GRCh38]
Chr12:78401060 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.2801C>T (p.Thr934Ile) single nucleotide variant Inborn genetic diseases [RCV002870256] Chr12:78118058 [GRCh38]
Chr12:78511838 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.2614G>A (p.Asp872Asn) single nucleotide variant Inborn genetic diseases [RCV002768638] Chr12:78059093 [GRCh38]
Chr12:78452873 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.2839C>A (p.Pro947Thr) single nucleotide variant Inborn genetic diseases [RCV002830937] Chr12:78118096 [GRCh38]
Chr12:78511876 [GRCh37]
Chr12:12q21.2		 likely benign
NM_001024383.2(NAV3):c.5072C>A (p.Ala1691Asp) single nucleotide variant Inborn genetic diseases [RCV002854021] Chr12:78175396 [GRCh38]
Chr12:78569176 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.2988A>T (p.Gln996His) single nucleotide variant Inborn genetic diseases [RCV002744049] Chr12:78118245 [GRCh38]
Chr12:78512025 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.3563G>A (p.Arg1188His) single nucleotide variant Inborn genetic diseases [RCV003004883] Chr12:78119759 [GRCh38]
Chr12:78513539 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.4492C>T (p.Arg1498Cys) single nucleotide variant Inborn genetic diseases [RCV002916770] Chr12:78137227 [GRCh38]
Chr12:78531007 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.415A>T (p.Ile139Phe) single nucleotide variant Inborn genetic diseases [RCV002929412] Chr12:77966229 [GRCh38]
Chr12:78360009 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.7015A>G (p.Thr2339Ala) single nucleotide variant Inborn genetic diseases [RCV002743884] Chr12:78205115 [GRCh38]
Chr12:78598895 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.6263C>T (p.Thr2088Ile) single nucleotide variant Inborn genetic diseases [RCV002764829] Chr12:78190191 [GRCh38]
Chr12:78583971 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.2539A>C (p.Asn847His) single nucleotide variant Inborn genetic diseases [RCV002835706] Chr12:78059018 [GRCh38]
Chr12:78452798 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.1373A>C (p.Asn458Thr) single nucleotide variant Inborn genetic diseases [RCV002935892] Chr12:78006911 [GRCh38]
Chr12:78400691 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.6263C>G (p.Thr2088Ser) single nucleotide variant Inborn genetic diseases [RCV002674260] Chr12:78190191 [GRCh38]
Chr12:78583971 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.1514T>G (p.Leu505Trp) single nucleotide variant Inborn genetic diseases [RCV002989418] Chr12:78007052 [GRCh38]
Chr12:78400832 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.3360G>C (p.Gln1120His) single nucleotide variant Inborn genetic diseases [RCV002919935] Chr12:78119556 [GRCh38]
Chr12:78513336 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.1961G>A (p.Ser654Asn) single nucleotide variant Inborn genetic diseases [RCV002832472] Chr12:78021800 [GRCh38]
Chr12:78415580 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.1933G>A (p.Ala645Thr) single nucleotide variant Inborn genetic diseases [RCV002936665] Chr12:78021772 [GRCh38]
Chr12:78415552 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.3608A>T (p.Lys1203Ile) single nucleotide variant Inborn genetic diseases [RCV003010660] Chr12:78119804 [GRCh38]
Chr12:78513584 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.595C>T (p.Leu199Phe) single nucleotide variant Inborn genetic diseases [RCV002748204] Chr12:77968626 [GRCh38]
Chr12:78362406 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.991C>A (p.Pro331Thr) single nucleotide variant Inborn genetic diseases [RCV002648404] Chr12:78006529 [GRCh38]
Chr12:78400309 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.857A>G (p.Asn286Ser) single nucleotide variant Inborn genetic diseases [RCV002812669] Chr12:77998453 [GRCh38]
Chr12:78392233 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.136G>C (p.Glu46Gln) single nucleotide variant Inborn genetic diseases [RCV002944734] Chr12:77831597 [GRCh38]
Chr12:78225377 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.3001T>C (p.Ser1001Pro) single nucleotide variant Inborn genetic diseases [RCV002722727] Chr12:78118258 [GRCh38]
Chr12:78512038 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.1955G>A (p.Cys652Tyr) single nucleotide variant Inborn genetic diseases [RCV003277716] Chr12:78021794 [GRCh38]
Chr12:78415574 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.1621A>G (p.Ile541Val) single nucleotide variant Inborn genetic diseases [RCV003295824] Chr12:78007159 [GRCh38]
Chr12:78400939 [GRCh37]
Chr12:12q21.2		 likely benign
NM_001024383.2(NAV3):c.1747T>G (p.Leu583Val) single nucleotide variant Inborn genetic diseases [RCV003279955] Chr12:78007285 [GRCh38]
Chr12:78401065 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.2942T>C (p.Leu981Pro) single nucleotide variant Inborn genetic diseases [RCV003181443] Chr12:78118199 [GRCh38]
Chr12:78511979 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.5989G>A (p.Val1997Met) single nucleotide variant Inborn genetic diseases [RCV003175391] Chr12:78188711 [GRCh38]
Chr12:78582491 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.4315G>C (p.Glu1439Gln) single nucleotide variant Inborn genetic diseases [RCV003221168] Chr12:78128740 [GRCh38]
Chr12:78522520 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.5281T>G (p.Ser1761Ala) single nucleotide variant Inborn genetic diseases [RCV003220946] Chr12:78177297 [GRCh38]
Chr12:78571077 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.2216C>G (p.Pro739Arg) single nucleotide variant Inborn genetic diseases [RCV003211249] Chr12:78050847 [GRCh38]
Chr12:78444627 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.5966T>C (p.Leu1989Ser) single nucleotide variant Inborn genetic diseases [RCV003209004] Chr12:78188688 [GRCh38]
Chr12:78582468 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.4286C>A (p.Thr1429Asn) single nucleotide variant Inborn genetic diseases [RCV003203058] Chr12:78128711 [GRCh38]
Chr12:78522491 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.5929A>G (p.Ser1977Gly) single nucleotide variant Inborn genetic diseases [RCV003198929] Chr12:78188651 [GRCh38]
Chr12:78582431 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.1181G>C (p.Arg394Pro) single nucleotide variant Inborn genetic diseases [RCV003200388] Chr12:78006719 [GRCh38]
Chr12:78400499 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.3916G>A (p.Gly1306Ser) single nucleotide variant Inborn genetic diseases [RCV003197910] Chr12:78122106 [GRCh38]
Chr12:78515886 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.1502A>G (p.Lys501Arg) single nucleotide variant Inborn genetic diseases [RCV003196868] Chr12:78007040 [GRCh38]
Chr12:78400820 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.4063G>A (p.Ala1355Thr) single nucleotide variant Inborn genetic diseases [RCV003202882] Chr12:78122253 [GRCh38]
Chr12:78516033 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.3248G>C (p.Gly1083Ala) single nucleotide variant Inborn genetic diseases [RCV003189089] Chr12:78119444 [GRCh38]
Chr12:78513224 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.1178C>G (p.Ala393Gly) single nucleotide variant Inborn genetic diseases [RCV003189156] Chr12:78006716 [GRCh38]
Chr12:78400496 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.2792G>C (p.Arg931Pro) single nucleotide variant Inborn genetic diseases [RCV003259978] Chr12:78118049 [GRCh38]
Chr12:78511829 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.5746G>A (p.Val1916Met) single nucleotide variant Inborn genetic diseases [RCV003308868] Chr12:78185654 [GRCh38]
Chr12:78579434 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.2753C>G (p.Ser918Cys) single nucleotide variant Inborn genetic diseases [RCV003378912] Chr12:78116888 [GRCh38]
Chr12:78510668 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.6517A>G (p.Arg2173Gly) single nucleotide variant Inborn genetic diseases [RCV003344223] Chr12:78198675 [GRCh38]
Chr12:78592455 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.232G>C (p.Glu78Gln) single nucleotide variant Inborn genetic diseases [RCV003358510] Chr12:77831693 [GRCh38]
Chr12:78225473 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.4600T>G (p.Ser1534Ala) single nucleotide variant See cases [RCV003330491] Chr12:78137335 [GRCh38]
Chr12:78531115 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.2828A>T (p.Glu943Val) single nucleotide variant Inborn genetic diseases [RCV003355317] Chr12:78118085 [GRCh38]
Chr12:78511865 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.3061G>A (p.Ala1021Thr) single nucleotide variant Inborn genetic diseases [RCV003374399] Chr12:78119257 [GRCh38]
Chr12:78513037 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.5590C>T (p.Arg1864Trp) single nucleotide variant Inborn genetic diseases [RCV003351161] Chr12:78180943 [GRCh38]
Chr12:78574723 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.3104A>G (p.Gln1035Arg) single nucleotide variant Inborn genetic diseases [RCV003354354] Chr12:78119300 [GRCh38]
Chr12:78513080 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.5168C>A (p.Thr1723Asn) single nucleotide variant Inborn genetic diseases [RCV003365951] Chr12:78177184 [GRCh38]
Chr12:78570964 [GRCh37]
Chr12:12q21.2		 uncertain significance
NM_001024383.2(NAV3):c.1077C>A (p.Pro359=) single nucleotide variant not provided [RCV003398194] Chr12:78006615 [GRCh38]
Chr12:78400395 [GRCh37]
Chr12:12q21.2		 likely benign
GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1 copy number loss not specified [RCV003986972] Chr12:74887087..90469800 [GRCh37]
Chr12:12q21.1-21.33		 pathogenic
GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1 copy number loss not specified [RCV003986983] Chr12:73466055..82398026 [GRCh37]
Chr12:12q21.1-21.31		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR29Ahsa-miR-29a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI20202123

Predicted Target Of
Summary Value
Count of predictions:6070
Count of miRNA genes:1042
Interacting mature miRNAs:1297
Transcripts:ENST00000228327, ENST00000266692, ENST00000397909, ENST00000536525, ENST00000541270, ENST00000547725, ENST00000547884, ENST00000548948, ENST00000549369, ENST00000549464, ENST00000550503, ENST00000550673, ENST00000550788, ENST00000551162, ENST00000551277, ENST00000552300, ENST00000552895
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
D12S2006  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371278,606,568 - 78,606,782UniSTSGRCh37
Build 361277,130,699 - 77,130,913RGDNCBI36
Celera1278,272,141 - 78,272,355RGD
Cytogenetic Map12q14.3UniSTS
HuRef1275,660,234 - 75,660,448UniSTS
Whitehead-YAC Contig Map12 UniSTS
RH103582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371278,605,474 - 78,605,624UniSTSGRCh37
Build 361277,129,605 - 77,129,755RGDNCBI36
Celera1278,271,047 - 78,271,197RGD
Cytogenetic Map12q14.3UniSTS
HuRef1275,659,140 - 75,659,290UniSTS
GeneMap99-GB4 RH Map12320.33UniSTS
G62498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371278,369,416 - 78,369,689UniSTSGRCh37
Build 361276,893,547 - 76,893,820RGDNCBI36
Celera1278,035,182 - 78,035,455RGD
Cytogenetic Map12q14.3UniSTS
HuRef1275,423,322 - 75,423,594UniSTS
TNG Radiation Hybrid Map1233998.0UniSTS
D19S653E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371278,606,629 - 78,606,708UniSTSGRCh37
Build 361277,130,760 - 77,130,839RGDNCBI36
Celera1278,272,202 - 78,272,281RGD
Cytogenetic Map12q14.3UniSTS
HuRef1275,660,295 - 75,660,374UniSTS
D12S1376E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371278,515,939 - 78,516,029UniSTSGRCh37
Build 361277,040,070 - 77,040,160RGDNCBI36
Celera1278,181,523 - 78,181,613RGD
Cytogenetic Map12q14.3UniSTS
HuRef1275,569,617 - 75,569,707UniSTS
SHGC-154971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371278,240,736 - 78,241,084UniSTSGRCh37
Build 361276,764,867 - 76,765,215RGDNCBI36
Celera1277,906,477 - 77,906,825RGD
Cytogenetic Map12q14.3UniSTS
HuRef1275,294,670 - 75,295,018UniSTS
TNG Radiation Hybrid Map1233948.0UniSTS
SHGC-155034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371278,238,994 - 78,239,281UniSTSGRCh37
Build 361276,763,125 - 76,763,412RGDNCBI36
Celera1277,904,735 - 77,905,022RGD
Cytogenetic Map12q14.3UniSTS
HuRef1275,292,929 - 75,293,216UniSTS
TNG Radiation Hybrid Map1233954.0UniSTS
SHGC-79622  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371278,479,101 - 78,479,405UniSTSGRCh37
Build 361277,003,232 - 77,003,536RGDNCBI36
Celera1278,144,650 - 78,144,954RGD
Cytogenetic Map12q14.3UniSTS
HuRef1275,532,725 - 75,533,029UniSTS
TNG Radiation Hybrid Map1234014.0UniSTS
D12S277E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371278,515,767 - 78,515,915UniSTSGRCh37
Build 361277,039,898 - 77,040,046RGDNCBI36
Celera1278,181,351 - 78,181,499RGD
Cytogenetic Map12q14.3UniSTS
HuRef1275,569,445 - 75,569,593UniSTS
RH46017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371278,516,485 - 78,516,668UniSTSGRCh37
Build 361277,040,616 - 77,040,799RGDNCBI36
Celera1278,182,069 - 78,182,252RGD
Cytogenetic Map12q14.3UniSTS
HuRef1275,570,163 - 75,570,346UniSTS
GeneMap99-GB4 RH Map12319.69UniSTS
NCBI RH Map12558.7UniSTS
L17987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371278,454,808 - 78,454,954UniSTSGRCh37
Build 361276,978,939 - 76,979,085RGDNCBI36
Celera1278,120,364 - 78,120,510RGD
Cytogenetic Map12q14.3UniSTS
HuRef1275,508,439 - 75,508,585UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 11 3 20 12 41 13 370 14 796 24 137 84 2 4 337
Low 1787 1724 1291 230 415 120 3407 1340 2885 142 1158 1362 119 1194 1913 2
Below cutoff 617 1210 400 371 1083 322 578 838 36 228 135 159 50 6 538 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001024383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB023155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC078822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF397731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ488201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV728995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM684673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR005268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000397909   ⟹   ENSP00000381007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1277,830,894 - 78,213,010 (+)Ensembl
RefSeq Acc Id: ENST00000536525   ⟹   ENSP00000446132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1277,831,289 - 78,210,638 (+)Ensembl
RefSeq Acc Id: ENST00000547725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1277,966,276 - 78,006,594 (+)Ensembl
RefSeq Acc Id: ENST00000547884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1278,199,159 - 78,200,562 (+)Ensembl
RefSeq Acc Id: ENST00000548948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1278,179,420 - 78,188,304 (+)Ensembl
RefSeq Acc Id: ENST00000549369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1277,940,267 - 77,950,895 (+)Ensembl
RefSeq Acc Id: ENST00000549464   ⟹   ENSP00000446628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1277,830,905 - 78,050,007 (+)Ensembl
RefSeq Acc Id: ENST00000550042   ⟹   ENSP00000489639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1277,324,641 - 78,007,031 (+)Ensembl
RefSeq Acc Id: ENST00000550503   ⟹   ENSP00000448037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1277,966,276 - 78,006,766 (+)Ensembl
RefSeq Acc Id: ENST00000550673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1278,007,178 - 78,010,897 (+)Ensembl
RefSeq Acc Id: ENST00000550788   ⟹   ENSP00000448303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1278,122,262 - 78,199,414 (+)Ensembl
RefSeq Acc Id: ENST00000551162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1278,199,076 - 78,210,983 (+)Ensembl
RefSeq Acc Id: ENST00000551277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1277,940,319 - 77,947,553 (+)Ensembl
RefSeq Acc Id: ENST00000552300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1278,180,877 - 78,190,190 (+)Ensembl
RefSeq Acc Id: ENST00000552895   ⟹   ENSP00000446644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1278,118,044 - 78,213,008 (+)Ensembl
RefSeq Acc Id: ENST00000644176   ⟹   ENSP00000495503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1278,036,257 - 78,211,465 (+)Ensembl
RefSeq Acc Id: NM_001024383   ⟹   NP_001019554
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,830,894 - 78,213,010 (+)NCBI
HuRef1275,278,625 - 75,660,458 (+)NCBI
CHM1_11278,191,333 - 78,573,063 (+)NCBI
T2T-CHM13v2.01277,808,906 - 78,191,344 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014903   ⟹   NP_055718
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,830,894 - 78,213,010 (+)NCBI
GRCh371278,224,685 - 78,606,790 (+)NCBI
Build 361276,749,200 - 77,130,921 (+)NCBI Archive
Celera1277,890,812 - 78,272,363 (+)RGD
HuRef1275,278,625 - 75,660,458 (+)NCBI
CHM1_11278,191,333 - 78,573,063 (+)NCBI
T2T-CHM13v2.01277,808,906 - 78,191,344 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005269215   ⟹   XP_005269272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,830,894 - 78,213,010 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538940   ⟹   XP_011537242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,830,894 - 78,213,010 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538941   ⟹   XP_011537243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,830,894 - 78,213,010 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538944   ⟹   XP_011537246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,830,894 - 78,213,010 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020164   ⟹   XP_016875653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,830,894 - 78,213,010 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020165   ⟹   XP_016875654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,830,894 - 78,213,010 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020166   ⟹   XP_016875655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,571,862 - 78,213,010 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020167   ⟹   XP_016875656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,571,862 - 78,213,010 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020168   ⟹   XP_016875657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,830,894 - 78,213,010 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020169   ⟹   XP_016875658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,830,894 - 78,213,010 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020170   ⟹   XP_016875659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,830,894 - 78,213,010 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020171   ⟹   XP_016875660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381278,035,962 - 78,213,010 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020172   ⟹   XP_016875661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381278,035,962 - 78,213,010 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020173   ⟹   XP_016875662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381278,035,962 - 78,213,010 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020175   ⟹   XP_016875664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381278,035,962 - 78,213,010 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047429812   ⟹   XP_047285768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,830,894 - 78,213,010 (+)NCBI
RefSeq Acc Id: XM_047429813   ⟹   XP_047285769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,830,894 - 78,213,010 (+)NCBI
RefSeq Acc Id: XM_047429814   ⟹   XP_047285770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,830,894 - 78,213,010 (+)NCBI
RefSeq Acc Id: XM_047429815   ⟹   XP_047285771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,830,894 - 78,213,010 (+)NCBI
RefSeq Acc Id: XM_047429816   ⟹   XP_047285772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,830,894 - 78,213,010 (+)NCBI
RefSeq Acc Id: XM_047429817   ⟹   XP_047285773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,571,862 - 78,213,010 (+)NCBI
RefSeq Acc Id: XM_047429818   ⟹   XP_047285774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,571,862 - 78,213,010 (+)NCBI
RefSeq Acc Id: XM_047429819   ⟹   XP_047285775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,571,862 - 78,213,010 (+)NCBI
RefSeq Acc Id: XM_047429820   ⟹   XP_047285776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,830,894 - 78,213,010 (+)NCBI
RefSeq Acc Id: XM_047429822   ⟹   XP_047285778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,830,894 - 78,213,010 (+)NCBI
RefSeq Acc Id: XM_047429823   ⟹   XP_047285779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,571,862 - 78,213,010 (+)NCBI
RefSeq Acc Id: XM_047429824   ⟹   XP_047285780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,830,894 - 78,213,010 (+)NCBI
RefSeq Acc Id: XM_047429825   ⟹   XP_047285781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,830,894 - 78,213,010 (+)NCBI
RefSeq Acc Id: XM_047429826   ⟹   XP_047285782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381277,571,862 - 78,213,010 (+)NCBI
RefSeq Acc Id: XM_054373726   ⟹   XP_054229701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,808,906 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373727   ⟹   XP_054229702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,808,906 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373728   ⟹   XP_054229703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,808,906 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373729   ⟹   XP_054229704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,808,906 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373730   ⟹   XP_054229705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,808,906 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373731   ⟹   XP_054229706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,808,906 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373732   ⟹   XP_054229707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,808,906 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373733   ⟹   XP_054229708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,808,906 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373734   ⟹   XP_054229709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,549,793 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373735   ⟹   XP_054229710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,808,906 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373736   ⟹   XP_054229711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,808,906 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373737   ⟹   XP_054229712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,549,793 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373738   ⟹   XP_054229713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,549,793 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373739   ⟹   XP_054229714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,549,793 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373740   ⟹   XP_054229715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,549,793 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373741   ⟹   XP_054229716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,808,906 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373742   ⟹   XP_054229717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,808,906 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373743   ⟹   XP_054229718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,808,906 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373744   ⟹   XP_054229719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,808,906 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373745   ⟹   XP_054229720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,808,906 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373746   ⟹   XP_054229721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,808,906 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373747   ⟹   XP_054229722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,549,793 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373748   ⟹   XP_054229723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,808,906 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373749   ⟹   XP_054229724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,808,906 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373750   ⟹   XP_054229725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01277,549,793 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373751   ⟹   XP_054229726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01278,006,503 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373752   ⟹   XP_054229727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01278,006,504 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373753   ⟹   XP_054229728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01278,006,504 - 78,191,344 (+)NCBI
RefSeq Acc Id: XM_054373754   ⟹   XP_054229729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01278,006,504 - 78,191,344 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001019554 (Get FASTA)   NCBI Sequence Viewer  
  NP_055718 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269272 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537242 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537243 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537246 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875653 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875654 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875655 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875656 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875657 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875658 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875659 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875660 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875661 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875662 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875664 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285768 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285769 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285770 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285771 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285772 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285773 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285774 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285775 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285776 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285778 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285779 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285780 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285781 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285782 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229701 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229702 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229703 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229704 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229705 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229706 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229707 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229708 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229709 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229710 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229711 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229712 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229713 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229714 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229715 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229716 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229717 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229718 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229719 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229720 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229721 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229722 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229723 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229724 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229725 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229726 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229727 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229728 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229729 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH17667 (Get FASTA)   NCBI Sequence Viewer  
  AAM73757 (Get FASTA)   NCBI Sequence Viewer  
  BAA76782 (Get FASTA)   NCBI Sequence Viewer  
  BAG58055 (Get FASTA)   NCBI Sequence Viewer  
  BAG60728 (Get FASTA)   NCBI Sequence Viewer  
  CAD32554 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43467 (Get FASTA)   NCBI Sequence Viewer  
  EAW97341 (Get FASTA)   NCBI Sequence Viewer  
  EAW97342 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000381007
  ENSP00000381007.2
  ENSP00000446132
  ENSP00000446132.2
  ENSP00000446628.1
  ENSP00000446644.1
  ENSP00000448037.1
  ENSP00000448303.1
  ENSP00000489639.1
  ENSP00000495503
  ENSP00000495503.1
GenBank Protein Q8IVL0 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_055718   ⟸   NM_014903
- Peptide Label: isoform 2
- UniProtKB: Q8IVL0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005269272   ⟸   XM_005269215
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001019554   ⟸   NM_001024383
- Peptide Label: isoform 1
- UniProtKB: Q8NFW7 (UniProtKB/Swiss-Prot),   Q9Y2E7 (UniProtKB/Swiss-Prot),   Q8IVL0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011537242   ⟸   XM_011538940
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011537243   ⟸   XM_011538941
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011537246   ⟸   XM_011538944
- Peptide Label: isoform X19
- UniProtKB: Q8IVL0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016875655   ⟸   XM_017020166
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016875656   ⟸   XM_017020167
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016875653   ⟸   XM_017020164
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016875654   ⟸   XM_017020165
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016875657   ⟸   XM_017020168
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: XP_016875658   ⟸   XM_017020169
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_016875659   ⟸   XM_017020170
- Peptide Label: isoform X20
- Sequence:
RefSeq Acc Id: XP_016875660   ⟸   XM_017020171
- Peptide Label: isoform X26
- Sequence:
RefSeq Acc Id: XP_016875662   ⟸   XM_017020173
- Peptide Label: isoform X28
- Sequence:
RefSeq Acc Id: XP_016875664   ⟸   XM_017020175
- Peptide Label: isoform X29
- Sequence:
RefSeq Acc Id: XP_016875661   ⟸   XM_017020172
- Peptide Label: isoform X27
- UniProtKB: A0A2R8YFX5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000446628   ⟸   ENST00000549464
RefSeq Acc Id: ENSP00000446132   ⟸   ENST00000536525
RefSeq Acc Id: ENSP00000489639   ⟸   ENST00000550042
RefSeq Acc Id: ENSP00000448303   ⟸   ENST00000550788
RefSeq Acc Id: ENSP00000448037   ⟸   ENST00000550503
RefSeq Acc Id: ENSP00000495503   ⟸   ENST00000644176
RefSeq Acc Id: ENSP00000446644   ⟸   ENST00000552895
RefSeq Acc Id: ENSP00000381007   ⟸   ENST00000397909
RefSeq Acc Id: XP_047285773   ⟸   XM_047429817
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047285779   ⟸   XM_047429823
- Peptide Label: isoform X22
RefSeq Acc Id: XP_047285774   ⟸   XM_047429818
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047285775   ⟸   XM_047429819
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047285782   ⟸   XM_047429826
- Peptide Label: isoform X25
RefSeq Acc Id: XP_047285776   ⟸   XM_047429820
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047285769   ⟸   XM_047429813
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047285768   ⟸   XM_047429812
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047285770   ⟸   XM_047429814
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047285771   ⟸   XM_047429815
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047285772   ⟸   XM_047429816
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047285778   ⟸   XM_047429822
- Peptide Label: isoform X21
RefSeq Acc Id: XP_047285780   ⟸   XM_047429824
- Peptide Label: isoform X23
RefSeq Acc Id: XP_047285781   ⟸   XM_047429825
- Peptide Label: isoform X24
RefSeq Acc Id: XP_054229709   ⟸   XM_054373734
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054229713   ⟸   XM_054373738
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054229722   ⟸   XM_054373747
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054229712   ⟸   XM_054373737
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054229714   ⟸   XM_054373739
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054229715   ⟸   XM_054373740
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054229725   ⟸   XM_054373750
- Peptide Label: isoform X25
RefSeq Acc Id: XP_054229701   ⟸   XM_054373726
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054229703   ⟸   XM_054373728
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054229705   ⟸   XM_054373730
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054229702   ⟸   XM_054373727
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054229706   ⟸   XM_054373731
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054229716   ⟸   XM_054373741
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054229718   ⟸   XM_054373743
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054229717   ⟸   XM_054373742
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054229719   ⟸   XM_054373744
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054229720   ⟸   XM_054373745
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054229707   ⟸   XM_054373732
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054229704   ⟸   XM_054373729
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054229708   ⟸   XM_054373733
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054229710   ⟸   XM_054373735
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054229711   ⟸   XM_054373736
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054229721   ⟸   XM_054373746
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054229723   ⟸   XM_054373748
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054229724   ⟸   XM_054373749
- Peptide Label: isoform X24
RefSeq Acc Id: XP_054229726   ⟸   XM_054373751
- Peptide Label: isoform X26
RefSeq Acc Id: XP_054229727   ⟸   XM_054373752
- Peptide Label: isoform X27
- UniProtKB: A0A2R8YFX5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229728   ⟸   XM_054373753
- Peptide Label: isoform X28
RefSeq Acc Id: XP_054229729   ⟸   XM_054373754
- Peptide Label: isoform X29
Protein Domains
AAA+ ATPase   Calponin-homology (CH)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IVL0-F1-model_v2 AlphaFold Q8IVL0 1-2385 view protein structure

Promoters
RGD ID:7224883
Promoter ID:EPDNEW_H18187
Type:initiation region
Name:NAV3_1
Description:neuron navigator 3
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
GRCh381277,831,239 - 77,831,299EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15998 AgrOrtholog
COSMIC NAV3 COSMIC
Ensembl Genes ENSG00000067798 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000397909 ENTREZGENE
  ENST00000397909.7 UniProtKB/Swiss-Prot
  ENST00000536525 ENTREZGENE
  ENST00000536525.6 UniProtKB/Swiss-Prot
  ENST00000549464.5 UniProtKB/TrEMBL
  ENST00000550042.2 UniProtKB/TrEMBL
  ENST00000550503.1 UniProtKB/TrEMBL
  ENST00000550788.1 UniProtKB/TrEMBL
  ENST00000552895.5 UniProtKB/TrEMBL
  ENST00000644176 ENTREZGENE
  ENST00000644176.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.418.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000067798 GTEx
HGNC ID HGNC:15998 ENTREZGENE
Human Proteome Map NAV3 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_AAA_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nav/unc-53 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:89795 UniProtKB/Swiss-Prot
NCBI Gene 89795 ENTREZGENE
OMIM 611629 OMIM
PANTHER NEURON NAVIGATOR 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12784 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00307 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31453 PharmGKB
PROSITE PS50021 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00033 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47576 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GTC4_HUMAN UniProtKB/TrEMBL
  A0A2R8YFX5 ENTREZGENE, UniProtKB/TrEMBL
  F8VZV4_HUMAN UniProtKB/TrEMBL
  H0YHA8_HUMAN UniProtKB/TrEMBL
  H0YHX7_HUMAN UniProtKB/TrEMBL
  H0YI14_HUMAN UniProtKB/TrEMBL
  L8ECF3_HUMAN UniProtKB/TrEMBL
  NAV3_HUMAN UniProtKB/Swiss-Prot
  Q6PJB7_HUMAN UniProtKB/TrEMBL
  Q8IVL0 ENTREZGENE
  Q8NFW7 ENTREZGENE
  Q9Y2E7 ENTREZGENE
UniProt Secondary Q8NFW7 UniProtKB/Swiss-Prot
  Q9Y2E7 UniProtKB/Swiss-Prot