NUP58 (nucleoporin 58) - Rat Genome Database

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Gene: NUP58 (nucleoporin 58) Homo sapiens
Analyze
Symbol: NUP58
Name: nucleoporin 58
RGD ID: 1353907
HGNC Page HGNC:20261
Description: Predicted to enable nuclear localization sequence binding activity. Predicted to be a structural constituent of nuclear pore. Predicted to be involved in nucleocytoplasmic transport. Part of nuclear envelope.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 58 kDa nucleoporin; KIAA0410; nucleoporin 58kDa; nucleoporin like 1; nucleoporin p58/p45; nucleoporin-like protein 1; NUP45; NUPL1; PRO2463
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: NUP58P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381325,301,625 - 25,349,800 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1325,301,524 - 25,365,390 (+)EnsemblGRCh38hg38GRCh38
GRCh371325,875,763 - 25,923,938 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361324,773,666 - 24,814,561 (+)NCBINCBI36Build 36hg18NCBI36
Build 341324,773,665 - 24,814,561NCBI
Celera136,939,918 - 6,980,809 (+)NCBICelera
Cytogenetic Map13q12.13NCBI
HuRef136,690,062 - 6,730,691 (+)NCBIHuRef
CHM1_11325,843,885 - 25,884,759 (+)NCBICHM1_1
T2T-CHM13v2.01324,511,318 - 24,559,471 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2-palmitoylglycerol  (EXP)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
caffeine  (EXP)
cisplatin  (EXP)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
dibenz[a,h]anthracene  (ISO)
dibenzo[a,l]pyrene  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
endosulfan  (EXP)
fenvalerate  (ISO)
flavonoids  (ISO)
fluoranthene  (ISO)
genistein  (EXP)
hydrogen peroxide  (EXP)
indometacin  (ISO)
ivermectin  (EXP)
ketamine  (ISO)
methotrexate  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
methylparaben  (EXP)
N(6)-dimethylallyladenine  (EXP)
N-nitrosodiethylamine  (ISO)
oxaliplatin  (ISO)
paracetamol  (EXP)
phenobarbital  (ISO)
pyrogallol  (ISO)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (EXP)
topotecan  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
membrane  (IEA)
nuclear envelope  (IDA,IEA,ISO,TAS)
nuclear membrane  (IEA)
nuclear pore  (IBA,IEA,NAS)
nucleus  (IEA)
protein-containing complex  (IEA,ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Regulation of mRNA trafficking by nuclear pore complexes. Bonnet A and Palancade B, Genes (Basel). 2014 Sep 2;5(3):767-91. doi: 10.3390/genes5030767.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7531196   PMID:8889548   PMID:9455477   PMID:10601273   PMID:11266456   PMID:12228227   PMID:12477932   PMID:14702039   PMID:15342556   PMID:15489334   PMID:17500595   PMID:20936779  
PMID:21516116   PMID:21873635   PMID:21900206   PMID:22939629   PMID:23275563   PMID:23383273   PMID:24315095   PMID:24711643   PMID:24927568   PMID:25416956   PMID:25693804   PMID:26186194  
PMID:26288249   PMID:26496610   PMID:26638075   PMID:27016207   PMID:27107012   PMID:28192407   PMID:28514442   PMID:28712289   PMID:29395067   PMID:29987050   PMID:30021884   PMID:30884312  
PMID:31391242   PMID:31515488   PMID:32296183   PMID:32344865   PMID:32353859   PMID:32780723   PMID:32814053   PMID:33001583   PMID:33060197   PMID:33961781   PMID:34079125   PMID:34373451  
PMID:34528284   PMID:34709727   PMID:35182466   PMID:35198878   PMID:35271311   PMID:35439318   PMID:35831314   PMID:35914814   PMID:35944360   PMID:36215168   PMID:37071682   PMID:37483225  
PMID:37516964   PMID:37827155   PMID:38297188   PMID:38580884   PMID:39358380  


Genomics

Comparative Map Data
NUP58
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381325,301,625 - 25,349,800 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1325,301,524 - 25,365,390 (+)EnsemblGRCh38hg38GRCh38
GRCh371325,875,763 - 25,923,938 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361324,773,666 - 24,814,561 (+)NCBINCBI36Build 36hg18NCBI36
Build 341324,773,665 - 24,814,561NCBI
Celera136,939,918 - 6,980,809 (+)NCBICelera
Cytogenetic Map13q12.13NCBI
HuRef136,690,062 - 6,730,691 (+)NCBIHuRef
CHM1_11325,843,885 - 25,884,759 (+)NCBICHM1_1
T2T-CHM13v2.01324,511,318 - 24,559,471 (+)NCBIT2T-CHM13v2.0
Nup58
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391460,442,733 - 60,488,951 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1460,442,731 - 60,488,956 (-)EnsemblGRCm39 Ensembl
GRCm39 Ensembl1460,422,061 - 60,488,880 (-)EnsemblGRCm39 Ensembl
GRCm381460,205,284 - 60,251,479 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1460,205,282 - 60,251,507 (-)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl1460,184,612 - 60,251,431 (-)EnsemblGRCm38mm10GRCm38
MGSCv371460,838,305 - 60,870,215 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361459,173,578 - 59,205,488 (-)NCBIMGSCv36mm8
Celera1458,009,157 - 58,041,065 (-)NCBICelera
Cytogenetic Map14D1NCBI
cM Map1431.62NCBI
Nup58
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81538,534,340 - 38,583,959 (-)NCBIGRCr8
mRatBN7.21534,358,170 - 34,407,160 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1534,358,277 - 34,407,060 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1536,229,670 - 36,261,919 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01537,380,301 - 37,412,551 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01535,835,892 - 35,868,141 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01540,496,754 - 40,545,933 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1540,513,342 - 40,545,824 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01544,308,883 - 44,358,084 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41539,317,826 - 39,350,075 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11539,332,153 - 39,365,788 (-)NCBI
Celera1534,076,434 - 34,108,683 (-)NCBICelera
Cytogenetic Map15p12NCBI
Nup58
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554974,762,316 - 4,830,547 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554974,762,316 - 4,830,320 (+)NCBIChiLan1.0ChiLan1.0
NUP58
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21424,896,010 - 24,946,435 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11316,006,071 - 16,056,478 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0136,593,682 - 6,634,397 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11324,944,910 - 24,985,657 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1324,948,081 - 24,992,854 (+)Ensemblpanpan1.1panPan2
NUP58
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12514,106,135 - 14,158,518 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2514,106,187 - 14,158,464 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2514,185,956 - 14,238,412 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02514,236,442 - 14,289,531 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2514,236,494 - 14,289,555 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12514,118,744 - 14,171,646 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02514,120,919 - 14,173,588 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02514,169,367 - 14,222,519 (-)NCBIUU_Cfam_GSD_1.0
Nup58
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945116,363,560 - 116,413,033 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936688985,746 - 1,025,407 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936688986,037 - 1,025,351 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NUP58
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl113,225,268 - 3,259,427 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1113,225,185 - 3,266,163 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2112,493,997 - 2,499,480 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NUP58
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.134,695,071 - 4,743,659 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl34,695,137 - 4,737,195 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605739,706,724 - 39,748,086 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nup58
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477613,149,019 - 13,219,370 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477613,149,918 - 13,219,571 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NUP58
33 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.12-12.13(chr13:24635449-25592788)x3 copy number gain See cases [RCV000051985] Chr13:24635449..25592788 [GRCh38]
Chr13:25209587..26166926 [GRCh37]
Chr13:24107587..25064926 [NCBI36]
Chr13:13q12.12-12.13
uncertain significance
GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3 copy number gain See cases [RCV000053729] Chr13:18958091..31090460 [GRCh38]
Chr13:19532231..31664597 [GRCh37]
Chr13:18430231..30562597 [NCBI36]
Chr13:13q12.11-12.3
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 copy number gain See cases [RCV000053721] Chr13:18676442..37656039 [GRCh38]
Chr13:19250582..38230176 [GRCh37]
Chr13:18148582..37128176 [NCBI36]
Chr13:13q11-13.3
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 copy number gain See cases [RCV000137892] Chr13:19671934..40914767 [GRCh38]
Chr13:20246074..41488903 [GRCh37]
Chr13:19144074..40386903 [NCBI36]
Chr13:13q12.11-14.11
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3 copy number gain See cases [RCV000141867] Chr13:18862146..33577351 [GRCh38]
Chr13:19436286..34151488 [GRCh37]
Chr13:18334286..33049488 [NCBI36]
Chr13:13q11-13.2
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
NM_014089.4(NUP58):c.538G>A (p.Gly180Ser) single nucleotide variant not specified [RCV004307486] Chr13:25313715 [GRCh38]
Chr13:25887853 [GRCh37]
Chr13:13q12.13
uncertain significance
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q12.12-12.13(chr13:23552966-27027909)x1 copy number loss See cases [RCV000511657] Chr13:23552966..27027909 [GRCh37]
Chr13:13q12.12-12.13
likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_014089.4(NUP58):c.866C>T (p.Ala289Val) single nucleotide variant not specified [RCV004300979] Chr13:25321008 [GRCh38]
Chr13:25895146 [GRCh37]
Chr13:13q12.13
uncertain significance
GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626443] Chr13:24080918..34361992 [GRCh37]
Chr13:13q12.12-13.2
drug response
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1
pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q12.13(chr13:25823451-25941178)x3 copy number gain not provided [RCV000750675] Chr13:25823451..25941178 [GRCh37]
Chr13:13q12.13
benign
NM_014089.4(NUP58):c.418C>G (p.Leu140Val) single nucleotide variant not specified [RCV004297639] Chr13:25313014 [GRCh38]
Chr13:25887152 [GRCh37]
Chr13:13q12.13
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3 copy number gain not provided [RCV000847640] Chr13:20069228..27474401 [GRCh37]
Chr13:13q12.11-12.13
pathogenic
NM_014089.4(NUP58):c.518G>A (p.Gly173Glu) single nucleotide variant not specified [RCV004316589] Chr13:25313695 [GRCh38]
Chr13:25887833 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.1143C>G (p.Thr381=) single nucleotide variant not provided [RCV000959094] Chr13:25327027 [GRCh38]
Chr13:25901165 [GRCh37]
Chr13:13q12.13
benign
GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3 copy number gain not provided [RCV001258538] Chr13:23775339..30534624 [GRCh37]
Chr13:13q12.12-12.3
likely pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34
pathogenic
NC_000013.10:g.(?_24293859)_(26594123_?)del deletion not provided [RCV003119915] Chr13:24293859..26594123 [GRCh37]
Chr13:13q12.12-12.13
pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34
pathogenic
NM_014089.4(NUP58):c.257C>T (p.Ala86Val) single nucleotide variant not specified [RCV004151719] Chr13:25309253 [GRCh38]
Chr13:25883391 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.689A>G (p.Asp230Gly) single nucleotide variant not specified [RCV004128889] Chr13:25319329 [GRCh38]
Chr13:25893467 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.271A>T (p.Thr91Ser) single nucleotide variant not specified [RCV004201304] Chr13:25309267 [GRCh38]
Chr13:25883405 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.1571C>G (p.Thr524Arg) single nucleotide variant not specified [RCV004130949] Chr13:25338672 [GRCh38]
Chr13:25912810 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.731A>G (p.Asp244Gly) single nucleotide variant not specified [RCV004155144] Chr13:25320550 [GRCh38]
Chr13:25894688 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.352T>A (p.Ser118Thr) single nucleotide variant not specified [RCV004214900] Chr13:25312948 [GRCh38]
Chr13:25887086 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.555T>A (p.Ser185Arg) single nucleotide variant not specified [RCV004219727] Chr13:25313732 [GRCh38]
Chr13:25887870 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.1346C>G (p.Thr449Ser) single nucleotide variant not specified [RCV004174111] Chr13:25331469 [GRCh38]
Chr13:25905607 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.521C>A (p.Ala174Asp) single nucleotide variant not specified [RCV004313377] Chr13:25313698 [GRCh38]
Chr13:25887836 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.623C>A (p.Thr208Asn) single nucleotide variant not specified [RCV004248304] Chr13:25315405 [GRCh38]
Chr13:25889543 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.1307G>A (p.Arg436Gln) single nucleotide variant not specified [RCV004251329] Chr13:25331430 [GRCh38]
Chr13:25905568 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.317C>G (p.Thr106Arg) single nucleotide variant not specified [RCV004327247] Chr13:25312913 [GRCh38]
Chr13:25887051 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.422C>G (p.Thr141Arg) single nucleotide variant not specified [RCV004343781] Chr13:25313018 [GRCh38]
Chr13:25887156 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.113C>A (p.Pro38His) single nucleotide variant not specified [RCV004361776] Chr13:25307811 [GRCh38]
Chr13:25881949 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.548T>G (p.Phe183Cys) single nucleotide variant not specified [RCV004338629] Chr13:25313725 [GRCh38]
Chr13:25887863 [GRCh37]
Chr13:13q12.13
uncertain significance
GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3 copy number gain not specified [RCV003987034] Chr13:23329180..28663294 [GRCh37]
Chr13:13q12.12-12.2
uncertain significance
NM_014089.4(NUP58):c.148A>C (p.Thr50Pro) single nucleotide variant not specified [RCV004488601] Chr13:25307846 [GRCh38]
Chr13:25881984 [GRCh37]
Chr13:13q12.13
uncertain significance
GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3 copy number gain not provided [RCV004442747] Chr13:19436287..36278224 [GRCh37]
Chr13:13q11-13.3
uncertain significance
NM_014089.4(NUP58):c.1138A>G (p.Ile380Val) single nucleotide variant not specified [RCV004488598] Chr13:25327022 [GRCh38]
Chr13:25901160 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.146G>A (p.Ser49Asn) single nucleotide variant not specified [RCV004488600] Chr13:25307844 [GRCh38]
Chr13:25881982 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.316A>G (p.Thr106Ala) single nucleotide variant not specified [RCV004488604] Chr13:25312912 [GRCh38]
Chr13:25887050 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.1234G>A (p.Val412Ile) single nucleotide variant not specified [RCV004488599] Chr13:25331357 [GRCh38]
Chr13:25905495 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.175C>G (p.Pro59Ala) single nucleotide variant not specified [RCV004488603] Chr13:25307873 [GRCh38]
Chr13:25882011 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.1751T>A (p.Leu584His) single nucleotide variant not specified [RCV004488602] Chr13:25340085 [GRCh38]
Chr13:25914223 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.445G>A (p.Gly149Arg) single nucleotide variant not specified [RCV004638905] Chr13:25313622 [GRCh38]
Chr13:25887760 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.1661A>G (p.Asn554Ser) single nucleotide variant not specified [RCV004638904] Chr13:25339995 [GRCh38]
Chr13:25914133 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.103T>C (p.Ser35Pro) single nucleotide variant not specified [RCV004638906] Chr13:25301876 [GRCh38]
Chr13:25876014 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.755G>T (p.Cys252Phe) single nucleotide variant not specified [RCV004638907] Chr13:25320574 [GRCh38]
Chr13:25894712 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_014089.4(NUP58):c.1526A>G (p.Asn509Ser) single nucleotide variant not specified [RCV004652754] Chr13:25337026 [GRCh38]
Chr13:25911164 [GRCh37]
Chr13:13q12.13
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3951
Count of miRNA genes:1224
Interacting mature miRNAs:1541
Transcripts:ENST00000381718, ENST00000381736, ENST00000381747, ENST00000394327, ENST00000460326, ENST00000463407, ENST00000465068, ENST00000466694, ENST00000476553, ENST00000477876, ENST00000480187, ENST00000481980, ENST00000490231, ENST00000495460
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597249647GWAS1345721_Hfasting blood insulin measurement QTL GWAS1345721 (human)0.000002fasting blood insulin measurementblood insulin level (CMO:0000349)132533151325331514Human
597441707GWAS1537781_Hserum metabolite measurement QTL GWAS1537781 (human)0.000004serum metabolite measurement132534585825345859Human
596951834GWAS1071353_Hfasting blood insulin measurement QTL GWAS1071353 (human)0.000002fasting blood insulin measurementblood insulin level (CMO:0000349)132533151325331514Human

Markers in Region
SHGC-36370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371325,916,254 - 25,916,378UniSTSGRCh37
Build 361324,814,254 - 24,814,378RGDNCBI36
Celera136,980,502 - 6,980,626RGD
Cytogenetic Map13q12.13UniSTS
HuRef136,730,384 - 6,730,508UniSTS
Stanford-G3 RH Map13171.0UniSTS
GeneMap99-G3 RH Map13167.0UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001008564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB007870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF113020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL646102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG330006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM976542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP249090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000381718   ⟹   ENSP00000371137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,301,633 - 25,342,409 (+)Ensembl
Ensembl Acc Id: ENST00000381736   ⟹   ENSP00000371155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,301,625 - 25,342,421 (+)Ensembl
Ensembl Acc Id: ENST00000381747   ⟹   ENSP00000371166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,301,647 - 25,336,309 (+)Ensembl
Ensembl Acc Id: ENST00000394327   ⟹   ENSP00000408147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,307,822 - 25,336,344 (+)Ensembl
Ensembl Acc Id: ENST00000460326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,301,625 - 25,309,429 (+)Ensembl
Ensembl Acc Id: ENST00000463407   ⟹   ENSP00000418555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,301,524 - 25,336,340 (+)Ensembl
Ensembl Acc Id: ENST00000465068   ⟹   ENSP00000418904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,301,625 - 25,312,942 (+)Ensembl
Ensembl Acc Id: ENST00000466694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,301,631 - 25,338,878 (+)Ensembl
Ensembl Acc Id: ENST00000476553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,317,877 - 25,342,409 (+)Ensembl
Ensembl Acc Id: ENST00000477876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,301,572 - 25,349,963 (+)Ensembl
Ensembl Acc Id: ENST00000480187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,301,625 - 25,308,137 (+)Ensembl
Ensembl Acc Id: ENST00000481980   ⟹   ENSP00000418341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,301,556 - 25,309,268 (+)Ensembl
Ensembl Acc Id: ENST00000490231   ⟹   ENSP00000418244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,301,625 - 25,312,956 (+)Ensembl
Ensembl Acc Id: ENST00000495460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,301,645 - 25,320,595 (+)Ensembl
Ensembl Acc Id: ENST00000695571   ⟹   ENSP00000512028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,312,905 - 25,342,409 (+)Ensembl
Ensembl Acc Id: ENST00000695572   ⟹   ENSP00000512029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,301,637 - 25,342,175 (+)Ensembl
Ensembl Acc Id: ENST00000695573   ⟹   ENSP00000512031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,301,574 - 25,342,407 (+)Ensembl
Ensembl Acc Id: ENST00000695574   ⟹   ENSP00000512033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,301,637 - 25,341,827 (+)Ensembl
Ensembl Acc Id: ENST00000695575   ⟹   ENSP00000512034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,301,637 - 25,342,409 (+)Ensembl
Ensembl Acc Id: ENST00000695576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,307,234 - 25,342,407 (+)Ensembl
Ensembl Acc Id: ENST00000695577   ⟹   ENSP00000512036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,313,738 - 25,365,390 (+)Ensembl
Ensembl Acc Id: ENST00000695578   ⟹   ENSP00000512037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,338,636 - 25,341,831 (+)Ensembl
Ensembl Acc Id: ENST00000695583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,301,625 - 25,326,232 (+)Ensembl
Ensembl Acc Id: ENST00000695584   ⟹   ENSP00000512041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,315,383 - 25,336,344 (+)Ensembl
Ensembl Acc Id: ENST00000695585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1325,324,971 - 25,336,344 (+)Ensembl
RefSeq Acc Id: NM_001008564   ⟹   NP_001008564
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,301,625 - 25,342,421 (+)NCBI
GRCh371325,875,222 - 25,916,561 (+)NCBI
Build 361324,773,666 - 24,814,561 (+)NCBI Archive
Celera136,939,918 - 6,980,809 (+)RGD
HuRef136,690,062 - 6,730,691 (+)RGD
CHM1_11325,843,885 - 25,884,759 (+)NCBI
T2T-CHM13v2.01324,511,318 - 24,552,093 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001411001   ⟹   NP_001397930
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,301,625 - 25,349,800 (+)NCBI
T2T-CHM13v2.01324,511,318 - 24,559,471 (+)NCBI
RefSeq Acc Id: NM_001411002   ⟹   NP_001397931
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,301,625 - 25,342,421 (+)NCBI
T2T-CHM13v2.01324,511,318 - 24,552,093 (+)NCBI
RefSeq Acc Id: NM_014089   ⟹   NP_054808
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,301,625 - 25,342,421 (+)NCBI
GRCh371325,875,222 - 25,916,561 (+)NCBI
Build 361324,773,666 - 24,814,561 (+)NCBI Archive
Celera136,939,918 - 6,980,809 (+)RGD
HuRef136,690,062 - 6,730,691 (+)RGD
CHM1_11325,843,885 - 25,884,759 (+)NCBI
T2T-CHM13v2.01324,511,318 - 24,552,093 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535329   ⟹   XP_011533631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,301,625 - 25,342,421 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047430804   ⟹   XP_047286760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,301,625 - 25,342,421 (+)NCBI
RefSeq Acc Id: XM_047430805   ⟹   XP_047286761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,301,625 - 25,342,421 (+)NCBI
RefSeq Acc Id: XM_047430806   ⟹   XP_047286762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,301,625 - 25,342,421 (+)NCBI
RefSeq Acc Id: XM_047430807   ⟹   XP_047286763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,301,625 - 25,342,421 (+)NCBI
RefSeq Acc Id: XM_054375225   ⟹   XP_054231200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01324,511,318 - 24,552,093 (+)NCBI
RefSeq Acc Id: XM_054375226   ⟹   XP_054231201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01324,511,318 - 24,552,093 (+)NCBI
RefSeq Acc Id: XM_054375227   ⟹   XP_054231202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01324,511,318 - 24,552,093 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001008564 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397930 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397931 (Get FASTA)   NCBI Sequence Viewer  
  NP_054808 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533631 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286760 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286761 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286762 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286763 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231200 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231201 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231202 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH01104 (Get FASTA)   NCBI Sequence Viewer  
  BAA23706 (Get FASTA)   NCBI Sequence Viewer  
  BAG53985 (Get FASTA)   NCBI Sequence Viewer  
  BAG64103 (Get FASTA)   NCBI Sequence Viewer  
  BAG64462 (Get FASTA)   NCBI Sequence Viewer  
  EAX08368 (Get FASTA)   NCBI Sequence Viewer  
  EAX08369 (Get FASTA)   NCBI Sequence Viewer  
  EAX08370 (Get FASTA)   NCBI Sequence Viewer  
  EAX08371 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000371137
  ENSP00000371137.3
  ENSP00000371155
  ENSP00000371155.3
  ENSP00000371166.3
  ENSP00000408147.1
  ENSP00000418244.1
  ENSP00000418341.1
  ENSP00000418555.1
  ENSP00000512028.2
  ENSP00000512029
  ENSP00000512029.1
  ENSP00000512030
  ENSP00000512030.1
  ENSP00000512032.1
  ENSP00000512034.1
  ENSP00000512035.1
  ENSP00000512036.1
  ENSP00000512037.1
GenBank Protein Q9BVL2 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_054808   ⟸   NM_014089
- Peptide Label: isoform a
- UniProtKB: Q5JRG2 (UniProtKB/Swiss-Prot),   O43160 (UniProtKB/Swiss-Prot),   B4DZJ1 (UniProtKB/Swiss-Prot),   A6NI12 (UniProtKB/Swiss-Prot),   Q5JRG5 (UniProtKB/Swiss-Prot),   Q9BVL2 (UniProtKB/Swiss-Prot),   B3KW23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001008564   ⟸   NM_001008564
- Peptide Label: isoform b
- UniProtKB: A0A8Q3WKQ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011533631   ⟸   XM_011535329
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000418555   ⟸   ENST00000463407
Ensembl Acc Id: ENSP00000418904   ⟸   ENST00000465068
Ensembl Acc Id: ENSP00000418244   ⟸   ENST00000490231
Ensembl Acc Id: ENSP00000418341   ⟸   ENST00000481980
Ensembl Acc Id: ENSP00000408147   ⟸   ENST00000394327
Ensembl Acc Id: ENSP00000371155   ⟸   ENST00000381736
Ensembl Acc Id: ENSP00000371166   ⟸   ENST00000381747
Ensembl Acc Id: ENSP00000371137   ⟸   ENST00000381718
Ensembl Acc Id: ENSP00000512028   ⟸   ENST00000695571
Ensembl Acc Id: ENSP00000512037   ⟸   ENST00000695578
Ensembl Acc Id: ENSP00000512033   ⟸   ENST00000695574
Ensembl Acc Id: ENSP00000512029   ⟸   ENST00000695572
Ensembl Acc Id: ENSP00000512036   ⟸   ENST00000695577
Ensembl Acc Id: ENSP00000512031   ⟸   ENST00000695573
Ensembl Acc Id: ENSP00000512041   ⟸   ENST00000695584
Ensembl Acc Id: ENSP00000512034   ⟸   ENST00000695575
RefSeq Acc Id: XP_047286761   ⟸   XM_047430805
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047286762   ⟸   XM_047430806
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047286763   ⟸   XM_047430807
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047286760   ⟸   XM_047430804
- Peptide Label: isoform X1
- UniProtKB: A0A8Q3WKQ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397930   ⟸   NM_001411001
- Peptide Label: isoform c
- UniProtKB: A0A8Q3WKK5 (UniProtKB/TrEMBL),   A0A8Q3WKK3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397931   ⟸   NM_001411002
- Peptide Label: isoform d
- UniProtKB: A0A8Q3WKL7 (UniProtKB/TrEMBL),   B3KW23 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054231201   ⟸   XM_054375226
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054231202   ⟸   XM_054375227
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054231200   ⟸   XM_054375225
- Peptide Label: isoform X1
- UniProtKB: A0A8Q3WKQ7 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BVL2-F1-model_v2 AlphaFold Q9BVL2 1-599 view protein structure

Promoters
RGD ID:6790988
Promoter ID:HG_KWN:17334
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001008564,   OTTHUMT00000044228,   OTTHUMT00000044229,   OTTHUMT00000044233,   UC001UQG.1,   UC001UQH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361324,772,986 - 24,773,857 (+)MPROMDB
RGD ID:6790989
Promoter ID:HG_KWN:17336
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000044230
Position:
Human AssemblyChrPosition (strand)Source
Build 361324,803,196 - 24,803,696 (+)MPROMDB
RGD ID:7226061
Promoter ID:EPDNEW_H18776
Type:initiation region
Name:NUP58_1
Description:nucleoporin 58
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
GRCh381325,301,625 - 25,301,685EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20261 AgrOrtholog
COSMIC NUP58 COSMIC
Ensembl Genes ENSG00000139496 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000381718 ENTREZGENE
  ENST00000381718.8 UniProtKB/Swiss-Prot
  ENST00000381736 ENTREZGENE
  ENST00000381736.8 UniProtKB/Swiss-Prot
  ENST00000381747.7 UniProtKB/TrEMBL
  ENST00000394327.2 UniProtKB/TrEMBL
  ENST00000463407.6 UniProtKB/Swiss-Prot
  ENST00000466694.6 UniProtKB/TrEMBL
  ENST00000477876 ENTREZGENE
  ENST00000477876.3 UniProtKB/TrEMBL
  ENST00000481980.3 UniProtKB/TrEMBL
  ENST00000490231.7 UniProtKB/TrEMBL
  ENST00000495460.2 UniProtKB/TrEMBL
  ENST00000695571.2 UniProtKB/TrEMBL
  ENST00000695572 ENTREZGENE
  ENST00000695572.2 UniProtKB/TrEMBL
  ENST00000695575.1 UniProtKB/TrEMBL
  ENST00000695577.1 UniProtKB/TrEMBL
  ENST00000695578.1 UniProtKB/TrEMBL
Gene3D-CATH 6.10.140.1350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000139496 GTEx
HGNC ID HGNC:20261 ENTREZGENE
Human Proteome Map NUP58 Human Proteome Map
InterPro Nucleoporin_p58/p45 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9818 UniProtKB/Swiss-Prot
NCBI Gene 9818 ENTREZGENE
OMIM 607615 OMIM
PANTHER NUCLEOPORIN P58/P45 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13437 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Nucleoporin_FG2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134981903 PharmGKB
UniProt A0A8Q3WKK3 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3WKK5 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3WKL0_HUMAN UniProtKB/TrEMBL
  A0A8Q3WKL7 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3WKL9_HUMAN UniProtKB/TrEMBL
  A0A8Q3WKM2_HUMAN UniProtKB/TrEMBL
  A0A8Q3WKQ7 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3WLQ2_HUMAN UniProtKB/TrEMBL
  A6NI12 ENTREZGENE
  B3KW23 ENTREZGENE, UniProtKB/TrEMBL
  B4DZJ1 ENTREZGENE
  F8WBZ1_HUMAN UniProtKB/TrEMBL
  F8WCJ8_HUMAN UniProtKB/TrEMBL
  H7BYF2_HUMAN UniProtKB/TrEMBL
  NUP58_HUMAN UniProtKB/Swiss-Prot
  O43160 ENTREZGENE
  Q5JRG1_HUMAN UniProtKB/TrEMBL
  Q5JRG2 ENTREZGENE
  Q5JRG5 ENTREZGENE
  Q9BVL2 ENTREZGENE
UniProt Secondary A6NI12 UniProtKB/Swiss-Prot
  B4DZJ1 UniProtKB/Swiss-Prot
  O43160 UniProtKB/Swiss-Prot
  Q5JRG2 UniProtKB/Swiss-Prot
  Q5JRG5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 NUP58  nucleoporin 58  NUP58  nucleoporin 58kDa  Symbol and/or name change 5135510 APPROVED
2015-08-18 NUP58  nucleoporin 58kDa  NUPL1  nucleoporin like 1  Symbol and/or name change 5135510 APPROVED