NUP54 (nucleoporin 54) - Rat Genome Database

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Gene: NUP54 (nucleoporin 54) Homo sapiens
Analyze
Symbol: NUP54
Name: nucleoporin 54
RGD ID: 732578
HGNC Page HGNC:17359
Description: Predicted to be a structural constituent of nuclear pore. Predicted to be involved in NLS-bearing protein import into nucleus; nuclear pore organization; and protein localization to nuclear inner membrane. Part of nuclear envelope. Implicated in dystonia 37, early-onset with striatal lesions.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 54 kDa nucleoporin; DYT37; MGC13407; nucleoporin 54kD; nucleoporin 54kDa; nucleoporin p54
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38476,114,664 - 76,148,397 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl476,107,562 - 76,148,485 (-)EnsemblGRCh38hg38GRCh38
GRCh37477,035,817 - 77,069,550 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36477,254,841 - 77,288,679 (-)NCBINCBI36Build 36hg18NCBI36
Build 34477,392,996 - 77,426,834NCBI
Celera474,336,017 - 74,369,792 (-)NCBICelera
Cytogenetic Map4q21.1NCBI
HuRef472,788,244 - 72,821,694 (-)NCBIHuRef
CHM1_1477,012,297 - 77,046,159 (-)NCBICHM1_1
T2T-CHM13v2.0479,455,330 - 79,489,069 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype 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. Molecular and functional characterization of the p62 complex, an assembly of nuclear pore complex glycoproteins. Hu T, etal., J Cell Biol 1996 Aug;134(3):589-601.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2050741   PMID:7531196   PMID:8045926   PMID:8125298   PMID:8589458   PMID:9582382   PMID:10395558   PMID:10546895   PMID:10601273   PMID:10931946   PMID:11266456   PMID:12228227  
PMID:12477932   PMID:14702039   PMID:15489334   PMID:16189514   PMID:16344560   PMID:16651408   PMID:19275582   PMID:19458171   PMID:20012529   PMID:20936779   PMID:21489275   PMID:21516116  
PMID:21873635   PMID:21994455   PMID:22939629   PMID:23443559   PMID:24315095   PMID:24711643   PMID:24722188   PMID:24927568   PMID:25416956   PMID:25693804   PMID:25921289   PMID:26186194  
PMID:26344197   PMID:26496610   PMID:26638075   PMID:27016207   PMID:27107014   PMID:27194810   PMID:27803151   PMID:28069952   PMID:28514442   PMID:29395067   PMID:29986057   PMID:30021884  
PMID:30033366   PMID:30884312   PMID:31091453   PMID:31391242   PMID:31413325   PMID:31515488   PMID:31586073   PMID:32296183   PMID:32344865   PMID:32353859   PMID:32780723   PMID:32814053  
PMID:32994395   PMID:33060197   PMID:33660365   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34597346   PMID:34709727   PMID:34901782   PMID:35140242   PMID:35182466   PMID:35241646  
PMID:35256949   PMID:35271311   PMID:35384245   PMID:35439318   PMID:35509820   PMID:35575683   PMID:35831314   PMID:36215168   PMID:36217030   PMID:36333996   PMID:36424410   PMID:36526897  
PMID:37071682   PMID:37450367   PMID:37483225   PMID:37516964   PMID:37689310   PMID:38297188   PMID:38443362   PMID:39358380  


Genomics

Comparative Map Data
NUP54
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38476,114,664 - 76,148,397 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl476,107,562 - 76,148,485 (-)EnsemblGRCh38hg38GRCh38
GRCh37477,035,817 - 77,069,550 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36477,254,841 - 77,288,679 (-)NCBINCBI36Build 36hg18NCBI36
Build 34477,392,996 - 77,426,834NCBI
Celera474,336,017 - 74,369,792 (-)NCBICelera
Cytogenetic Map4q21.1NCBI
HuRef472,788,244 - 72,821,694 (-)NCBIHuRef
CHM1_1477,012,297 - 77,046,159 (-)NCBICHM1_1
T2T-CHM13v2.0479,455,330 - 79,489,069 (-)NCBIT2T-CHM13v2.0
Nup54
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39592,563,399 - 92,583,117 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl592,563,399 - 92,583,078 (-)EnsemblGRCm39 Ensembl
GRCm38592,415,540 - 92,435,259 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl592,415,540 - 92,435,219 (-)EnsemblGRCm38mm10GRCm38
MGSCv37592,844,566 - 92,864,225 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36593,490,746 - 93,510,323 (-)NCBIMGSCv36mm8
Celera590,564,003 - 90,583,663 (-)NCBICelera
Cytogenetic Map5E2NCBI
cM Map546.75NCBI
Nup54
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81415,901,936 - 15,920,335 (+)NCBIGRCr8
mRatBN7.21415,617,630 - 15,636,029 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1415,617,679 - 15,636,028 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1415,625,954 - 15,644,122 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01416,944,808 - 16,962,972 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01415,640,226 - 15,658,388 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01417,123,434 - 17,141,832 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1417,123,360 - 17,141,767 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01417,039,514 - 17,057,924 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41417,178,761 - 17,197,062 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11417,178,760 - 17,197,061 (+)NCBI
Celera1415,012,204 - 15,030,485 (+)NCBICelera
Cytogenetic Map14p22NCBI
Nup54
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955433853,921 - 879,861 (-)NCBIChiLan1.0ChiLan1.0
NUP54
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2353,924,149 - 53,958,784 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1454,113,869 - 54,150,174 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0448,057,553 - 48,091,471 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1453,896,058 - 53,929,596 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl453,896,058 - 53,929,596 (+)Ensemblpanpan1.1panPan2
NUP54
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.132751,568 - 782,342 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl32751,982 - 782,314 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3241,100,154 - 41,131,148 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.032777,963 - 808,974 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl32777,883 - 808,921 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.132776,011 - 807,023 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.032730,301 - 761,292 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03239,408,219 - 39,439,234 (+)NCBIUU_Cfam_GSD_1.0
Nup54
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528511,345,313 - 11,377,591 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936676133,782 - 161,938 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936676130,877 - 161,914 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NUP54
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl871,792,155 - 71,833,157 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1871,792,153 - 71,833,180 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2875,992,615 - 76,028,904 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NUP54
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1724,616,645 - 24,649,595 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl724,613,767 - 24,650,359 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660372,964,814 - 2,997,872 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nup54
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475714,800,780 - 14,840,115 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NUP54
22 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1 copy number loss See cases [RCV000050786] Chr4:75453111..84094295 [GRCh38]
Chr4:76378321..85015448 [GRCh37]
Chr4:76597345..85234472 [NCBI36]
Chr4:4q21.1-21.23		 pathogenic
GRCh38/hg38 4q21.1(chr4:75729757-76160423)x1 copy number loss See cases [RCV000051054] Chr4:75729757..76160423 [GRCh38]
Chr4:76654941..77081576 [GRCh37]
Chr4:76873965..77300600 [NCBI36]
Chr4:4q21.1		 uncertain significance
GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3 copy number gain See cases [RCV000051774] Chr4:71128874..78099088 [GRCh38]
Chr4:71994591..79020242 [GRCh37]
Chr4:72213455..79239266 [NCBI36]
Chr4:4q13.3-21.21		 pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3		 pathogenic
GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|See cases [RCV000053294] Chr4:67869564..85517308 [GRCh38]
Chr4:68735282..86438461 [GRCh37]
Chr4:68417877..86657485 [NCBI36]
Chr4:4q13.2-21.23		 pathogenic
GRCh38/hg38 4q13.3-21.22(chr4:71079179-81802208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]|See cases [RCV000053295] Chr4:71079179..81802208 [GRCh38]
Chr4:71944896..82723361 [GRCh37]
Chr4:72163760..82942385 [NCBI36]
Chr4:4q13.3-21.22		 pathogenic
GRCh38/hg38 4q13.3-22.1(chr4:74031395-90421127)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|See cases [RCV000053296] Chr4:74031395..90421127 [GRCh38]
Chr4:74897112..91342278 [GRCh37]
Chr4:75115976..91561301 [NCBI36]
Chr4:4q13.3-22.1		 pathogenic
GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3 copy number gain See cases [RCV000138312] Chr4:72262258..86002147 [GRCh38]
Chr4:73127975..86923300 [GRCh37]
Chr4:73346839..87142324 [NCBI36]
Chr4:4q13.3-21.3		 pathogenic
GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3 copy number gain See cases [RCV000141486] Chr4:75801143..79005805 [GRCh38]
Chr4:76722296..79926959 [GRCh37]
Chr4:76941320..80145983 [NCBI36]
Chr4:4q21.1-21.21		 pathogenic
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 copy number gain See cases [RCV000143458] Chr4:68686088..95294456 [GRCh38]
Chr4:69551806..96215607 [GRCh37]
Chr4:69234401..96434630 [NCBI36]
Chr4:4q13.2-22.3		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_017426.4(NUP54):c.22C>T (p.Pro8Ser) single nucleotide variant not specified [RCV004315331] Chr4:76148353 [GRCh38]
Chr4:77069506 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_017426.4(NUP54):c.423G>C (p.Trp141Cys) single nucleotide variant not specified [RCV004293815] Chr4:76136285 [GRCh38]
Chr4:77057438 [GRCh37]
Chr4:4q21.1		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q13.3-21.1(chr4:74890695-77318961)x1 copy number loss not provided [RCV000682421] Chr4:74890695..77318961 [GRCh37]
Chr4:4q13.3-21.1		 uncertain significance
GRCh37/hg19 4q13.3-21.1(chr4:75353931-77183033)x1 copy number loss not provided [RCV000682422] Chr4:75353931..77183033 [GRCh37]
Chr4:4q13.3-21.1		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1 copy number loss not provided [RCV001005556] Chr4:72680879..86426232 [GRCh37]
Chr4:4q13.3-21.23		 pathogenic
GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1 copy number loss not provided [RCV000846231] Chr4:71561780..78304341 [GRCh37]
Chr4:4q13.3-21.1		 pathogenic
GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3 copy number gain not provided [RCV000845944] Chr4:68242784..82991431 [GRCh37]
Chr4:4q13.2-21.22		 pathogenic
GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1 copy number loss not provided [RCV001005553] Chr4:68950363..79738598 [GRCh37]
Chr4:4q13.2-21.21		 pathogenic
NM_017426.4(NUP54):c.1404ACA[2] (p.Gln471del) microsatellite Dystonia 37, early-onset, with striatal lesions [RCV003236962] Chr4:76115478..76115480 [GRCh38]
Chr4:77036631..77036633 [GRCh37]
Chr4:4q21.1		 pathogenic
GRCh37/hg19 4q21.1(chr4:76872306-77038327)x1 copy number loss not provided [RCV002473463] Chr4:76872306..77038327 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_017426.4(NUP54):c.1073T>G (p.Ile358Ser) single nucleotide variant Dystonia 37, early-onset, with striatal lesions [RCV003236960] Chr4:76124740 [GRCh38]
Chr4:77045893 [GRCh37]
Chr4:4q21.1		 pathogenic
GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1 copy number loss See cases [RCV001263040] Chr4:71412409..87920784 [GRCh37]
Chr4:4q13.3-21.3		 pathogenic
GRCh37/hg19 4q21.1(chr4:77029893-77105624)x1 copy number loss not provided [RCV001259271] Chr4:77029893..77105624 [GRCh37]
Chr4:4q21.1		 uncertain significance
GRCh37/hg19 4q21.1(chr4:76998519-77433888)x3 copy number gain not provided [RCV001259272] Chr4:76998519..77433888 [GRCh37]
Chr4:4q21.1		 uncertain significance
GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156) copy number gain not specified [RCV002053429] Chr4:75737340..91131156 [GRCh37]
Chr4:4q13.3-22.1		 pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154) copy number loss not specified [RCV002053427] Chr4:73055313..80083154 [GRCh37]
Chr4:4q13.3-21.21		 pathogenic
NC_000004.12:g.67833055_82716065del deletion See cases [RCV003313802] Chr4:67833055..82716065 [GRCh38]
Chr4:4q13.2-21.22		 pathogenic
NM_017426.4(NUP54):c.1126A>G (p.Lys376Glu) single nucleotide variant Dystonia 37, early-onset, with striatal lesions [RCV003236961] Chr4:76124687 [GRCh38]
Chr4:77045840 [GRCh37]
Chr4:4q21.1		 pathogenic
NM_017426.4(NUP54):c.595G>A (p.Glu199Lys) single nucleotide variant not specified [RCV004218653] Chr4:76134290 [GRCh38]
Chr4:77055443 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_017426.4(NUP54):c.1510G>A (p.Gly504Ser) single nucleotide variant not specified [RCV004224263] Chr4:76115380 [GRCh38]
Chr4:77036533 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_017426.4(NUP54):c.209C>G (p.Thr70Arg) single nucleotide variant not specified [RCV004157689] Chr4:76144235 [GRCh38]
Chr4:77065388 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_017426.4(NUP54):c.59C>A (p.Ala20Asp) single nucleotide variant not specified [RCV004167975] Chr4:76148316 [GRCh38]
Chr4:77069469 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_017426.4(NUP54):c.86G>A (p.Gly29Glu) single nucleotide variant not specified [RCV004178050] Chr4:76144455 [GRCh38]
Chr4:77065608 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_017426.4(NUP54):c.1072A>G (p.Ile358Val) single nucleotide variant not specified [RCV004353783] Chr4:76124741 [GRCh38]
Chr4:77045894 [GRCh37]
Chr4:4q21.1		 uncertain significance
GRCh37/hg19 4q13.3-21.21(chr4:74822261-79345650)x1 copy number loss not specified [RCV003986507] Chr4:74822261..79345650 [GRCh37]
Chr4:4q13.3-21.21		 uncertain significance
NM_017426.4(NUP54):c.17G>T (p.Gly6Val) single nucleotide variant Dystonia 37, early-onset, with striatal lesions [RCV003993623] Chr4:76148358 [GRCh38]
Chr4:77069511 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_017426.4(NUP54):c.146C>G (p.Thr49Ser) single nucleotide variant not specified [RCV004488593] Chr4:76144395 [GRCh38]
Chr4:77065548 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_017426.4(NUP54):c.40A>G (p.Thr14Ala) single nucleotide variant not specified [RCV004488594] Chr4:76148335 [GRCh38]
Chr4:77069488 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_017426.4(NUP54):c.558T>G (p.Asp186Glu) single nucleotide variant not specified [RCV004488595] Chr4:76134327 [GRCh38]
Chr4:77055480 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_017426.4(NUP54):c.979A>G (p.Met327Val) single nucleotide variant not specified [RCV004488597] Chr4:76130733 [GRCh38]
Chr4:77051886 [GRCh37]
Chr4:4q21.1		 uncertain significance
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_017426.4(NUP54):c.1112A>G (p.Lys371Arg) single nucleotide variant not specified [RCV004488592] Chr4:76124701 [GRCh38]
Chr4:77045854 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_017426.4(NUP54):c.810A>G (p.Ile270Met) single nucleotide variant not specified [RCV004488596] Chr4:76132620 [GRCh38]
Chr4:77053773 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_017426.4(NUP54):c.806A>G (p.Asn269Ser) single nucleotide variant not specified [RCV004652753] Chr4:76132624 [GRCh38]
Chr4:77053777 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_017426.4(NUP54):c.802G>A (p.Ala268Thr) single nucleotide variant not specified [RCV004154541] Chr4:76132628 [GRCh38]
Chr4:77053781 [GRCh37]
Chr4:4q21.1		 likely benign
NC_000004.11:g.(?_76481293)_(77700330_?)del deletion Progressive myoclonic epilepsy [RCV001950969] Chr4:76481293..77700330 [GRCh37]
Chr4:4q21.1		 pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR484hsa-miR-484Tarbaseexternal_infoSequencingPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:3256
Count of miRNA genes:826
Interacting mature miRNAs:956
Transcripts:ENST00000264883, ENST00000342467, ENST00000458189, ENST00000502850, ENST00000504173, ENST00000506098, ENST00000507257, ENST00000508465, ENST00000508583, ENST00000508604, ENST00000510569, ENST00000510884, ENST00000512151, ENST00000513248, ENST00000513352, ENST00000514307, ENST00000514313, ENST00000514901, ENST00000514987, ENST00000515460
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
RH93766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37477,036,172 - 77,036,347UniSTSGRCh37
Build 36477,255,196 - 77,255,371RGDNCBI36
Celera474,336,372 - 74,336,547RGD
Cytogenetic Map4q21.1UniSTS
HuRef472,788,604 - 72,788,779UniSTS
GeneMap99-GB4 RH Map4435.5UniSTS
SHGC-78854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37477,066,594 - 77,066,864UniSTSGRCh37
Build 36477,285,618 - 77,285,888RGDNCBI36
Celera474,366,731 - 74,367,001RGD
Cytogenetic Map4q21.1UniSTS
HuRef472,818,620 - 72,818,890UniSTS
TNG Radiation Hybrid Map444092.0UniSTS
RH103869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37477,040,842 - 77,040,972UniSTSGRCh37
Build 36477,259,866 - 77,259,996RGDNCBI36
Celera474,341,040 - 74,341,170RGD
Cytogenetic Map4q21.1UniSTS
HuRef472,793,263 - 72,793,393UniSTS
GeneMap99-GB4 RH Map4436.73UniSTS
G54048  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37477,036,041 - 77,036,191UniSTSGRCh37
Build 36477,255,065 - 77,255,215RGDNCBI36
Celera474,336,241 - 74,336,391RGD
Cytogenetic Map4q21.1UniSTS
HuRef472,788,473 - 72,788,623UniSTS
R71204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37477,036,042 - 77,036,205UniSTSGRCh37
Build 36477,255,066 - 77,255,229RGDNCBI36
Celera474,336,242 - 74,336,405RGD
Cytogenetic Map4q21.1UniSTS
HuRef472,788,474 - 72,788,637UniSTS
TNG Radiation Hybrid Map444053.0UniSTS
GeneMap99-GB4 RH Map4435.5UniSTS
NCBI RH Map4903.2UniSTS
NUP54_3830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37477,035,725 - 77,036,531UniSTSGRCh37
Build 36477,254,749 - 77,255,555RGDNCBI36
Celera474,335,925 - 74,336,731RGD
HuRef472,788,157 - 72,788,963UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS


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 NM_001278603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_103780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_103781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_103782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC110795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF157322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI580839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP420577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA577078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000264883   ⟹   ENSP00000264883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,114,664 - 76,148,397 (-)Ensembl
Ensembl Acc Id: ENST00000502850   ⟹   ENSP00000426609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,115,087 - 76,148,405 (-)Ensembl
Ensembl Acc Id: ENST00000504173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,124,580 - 76,148,444 (-)Ensembl
Ensembl Acc Id: ENST00000506098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,136,321 - 76,147,821 (-)Ensembl
Ensembl Acc Id: ENST00000507257   ⟹   ENSP00000425243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,114,664 - 76,148,485 (-)Ensembl
Ensembl Acc Id: ENST00000508465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,115,104 - 76,148,429 (-)Ensembl
Ensembl Acc Id: ENST00000508583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,136,282 - 76,148,434 (-)Ensembl
Ensembl Acc Id: ENST00000508604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,114,659 - 76,130,851 (-)Ensembl
Ensembl Acc Id: ENST00000510569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,114,664 - 76,146,149 (-)Ensembl
Ensembl Acc Id: ENST00000510884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,144,184 - 76,148,200 (-)Ensembl
Ensembl Acc Id: ENST00000512151   ⟹   ENSP00000424172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,115,301 - 76,148,397 (-)Ensembl
Ensembl Acc Id: ENST00000513248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,115,438 - 76,118,437 (-)Ensembl
Ensembl Acc Id: ENST00000513352   ⟹   ENSP00000424389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,144,197 - 76,148,397 (-)Ensembl
Ensembl Acc Id: ENST00000514307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,136,188 - 76,148,202 (-)Ensembl
Ensembl Acc Id: ENST00000514313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,114,744 - 76,145,223 (-)Ensembl
Ensembl Acc Id: ENST00000514901   ⟹   ENSP00000421932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,144,130 - 76,148,398 (-)Ensembl
Ensembl Acc Id: ENST00000514987   ⟹   ENSP00000421304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,114,868 - 76,148,445 (-)Ensembl
Ensembl Acc Id: ENST00000515460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,114,679 - 76,148,439 (-)Ensembl
Ensembl Acc Id: ENST00000695546   ⟹   ENSP00000512003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,107,562 - 76,148,397 (-)Ensembl
Ensembl Acc Id: ENST00000695547   ⟹   ENSP00000512004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,112,792 - 76,148,434 (-)Ensembl
Ensembl Acc Id: ENST00000695548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,114,708 - 76,145,311 (-)Ensembl
Ensembl Acc Id: ENST00000695549   ⟹   ENSP00000512005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,114,744 - 76,148,434 (-)Ensembl
Ensembl Acc Id: ENST00000695550   ⟹   ENSP00000512006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,114,744 - 76,148,429 (-)Ensembl
Ensembl Acc Id: ENST00000695551   ⟹   ENSP00000512007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,114,744 - 76,148,439 (-)Ensembl
Ensembl Acc Id: ENST00000695552   ⟹   ENSP00000512010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,114,898 - 76,148,439 (-)Ensembl
Ensembl Acc Id: ENST00000695553   ⟹   ENSP00000512011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,114,692 - 76,148,429 (-)Ensembl
Ensembl Acc Id: ENST00000695554   ⟹   ENSP00000512012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,114,692 - 76,148,439 (-)Ensembl
Ensembl Acc Id: ENST00000695555   ⟹   ENSP00000512013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,114,744 - 76,148,434 (-)Ensembl
Ensembl Acc Id: ENST00000695556   ⟹   ENSP00000512014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,114,744 - 76,148,439 (-)Ensembl
Ensembl Acc Id: ENST00000695557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,114,744 - 76,148,228 (-)Ensembl
RefSeq Acc Id: NM_001278603   ⟹   NP_001265532
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38476,114,664 - 76,148,397 (-)NCBI
GRCh37477,035,812 - 77,069,668 (-)NCBI
HuRef472,788,244 - 72,821,694 (-)NCBI
CHM1_1477,012,297 - 77,046,159 (-)NCBI
T2T-CHM13v2.0479,455,330 - 79,489,069 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017426   ⟹   NP_059122
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38476,114,664 - 76,148,397 (-)NCBI
GRCh37477,035,812 - 77,069,668 (-)NCBI
Build 36477,254,841 - 77,288,679 (-)NCBI Archive
Celera474,336,017 - 74,369,792 (-)RGD
HuRef472,788,244 - 72,821,694 (-)NCBI
CHM1_1477,012,297 - 77,046,159 (-)NCBI
T2T-CHM13v2.0479,455,330 - 79,489,069 (-)NCBI
Sequence:
RefSeq Acc Id: NR_103780
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38476,114,664 - 76,148,397 (-)NCBI
GRCh37477,035,812 - 77,069,668 (-)NCBI
HuRef472,788,244 - 72,821,694 (-)NCBI
CHM1_1477,012,297 - 77,046,159 (-)NCBI
T2T-CHM13v2.0479,455,330 - 79,489,069 (-)NCBI
Sequence:
RefSeq Acc Id: NR_103781
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38476,114,664 - 76,148,397 (-)NCBI
GRCh37477,035,812 - 77,069,668 (-)NCBI
HuRef472,788,244 - 72,821,694 (-)NCBI
CHM1_1477,012,297 - 77,046,159 (-)NCBI
T2T-CHM13v2.0479,455,330 - 79,489,069 (-)NCBI
Sequence:
RefSeq Acc Id: NR_103782
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38476,114,664 - 76,148,397 (-)NCBI
GRCh37477,035,812 - 77,069,668 (-)NCBI
HuRef472,788,244 - 72,821,694 (-)NCBI
CHM1_1477,012,297 - 77,046,159 (-)NCBI
T2T-CHM13v2.0479,455,330 - 79,489,069 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532033   ⟹   XP_011530335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38476,114,664 - 76,148,397 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047415783   ⟹   XP_047271739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38476,114,664 - 76,148,397 (-)NCBI
RefSeq Acc Id: XM_047415784   ⟹   XP_047271740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38476,114,664 - 76,148,397 (-)NCBI
RefSeq Acc Id: XM_047415785   ⟹   XP_047271741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38476,114,664 - 76,148,397 (-)NCBI
RefSeq Acc Id: XM_047415786   ⟹   XP_047271742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38476,130,676 - 76,148,397 (-)NCBI
RefSeq Acc Id: XM_054350191   ⟹   XP_054206166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0479,455,330 - 79,489,069 (-)NCBI
RefSeq Acc Id: XM_054350192   ⟹   XP_054206167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0479,455,330 - 79,489,069 (-)NCBI
RefSeq Acc Id: XM_054350193   ⟹   XP_054206168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0479,455,330 - 79,488,916 (-)NCBI
RefSeq Acc Id: XM_054350194   ⟹   XP_054206169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0479,471,348 - 79,489,069 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001265532 (Get FASTA)   NCBI Sequence Viewer  
  NP_059122 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530335 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271739 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271740 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271741 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271742 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206166 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206167 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206168 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206169 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF67488 (Get FASTA)   NCBI Sequence Viewer  
  BAA91735 (Get FASTA)   NCBI Sequence Viewer  
  BAD96472 (Get FASTA)   NCBI Sequence Viewer  
  BAD97072 (Get FASTA)   NCBI Sequence Viewer  
  BAG37604 (Get FASTA)   NCBI Sequence Viewer  
  BAG61417 (Get FASTA)   NCBI Sequence Viewer  
  BAG61847 (Get FASTA)   NCBI Sequence Viewer  
  CAB70859 (Get FASTA)   NCBI Sequence Viewer  
  CAD97957 (Get FASTA)   NCBI Sequence Viewer  
  EAX05775 (Get FASTA)   NCBI Sequence Viewer  
  EAX05776 (Get FASTA)   NCBI Sequence Viewer  
  EAX05777 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264883
  ENSP00000264883.3
  ENSP00000421304
  ENSP00000421304.1
  ENSP00000424172.1
  ENSP00000424389.1
  ENSP00000425243.1
  ENSP00000426609.1
  ENSP00000512003.1
  ENSP00000512004.1
  ENSP00000512005.1
  ENSP00000512006.2
  ENSP00000512007.1
  ENSP00000512008.1
  ENSP00000512009
  ENSP00000512009.1
  ENSP00000512010.2
  ENSP00000512011.1
  ENSP00000512012.1
  ENSP00000512013.1
  ENSP00000512014
  ENSP00000512014.1
GenBank Protein Q7Z3B4 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_059122   ⟸   NM_017426
- Peptide Label: isoform 1
- UniProtKB: Q9NVL5 (UniProtKB/Swiss-Prot),   Q96EA7 (UniProtKB/Swiss-Prot),   B4DT35 (UniProtKB/Swiss-Prot),   B2RCK7 (UniProtKB/Swiss-Prot),   Q9P0I1 (UniProtKB/Swiss-Prot),   Q7Z3B4 (UniProtKB/Swiss-Prot),   Q53FD7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265532   ⟸   NM_001278603
- Peptide Label: isoform 2
- UniProtKB: Q53FD7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530335   ⟸   XM_011532033
- Peptide Label: isoform X1
- UniProtKB: Q53FD7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000426609   ⟸   ENST00000502850
Ensembl Acc Id: ENSP00000425243   ⟸   ENST00000507257
Ensembl Acc Id: ENSP00000424172   ⟸   ENST00000512151
Ensembl Acc Id: ENSP00000424389   ⟸   ENST00000513352
Ensembl Acc Id: ENSP00000264883   ⟸   ENST00000264883
Ensembl Acc Id: ENSP00000421932   ⟸   ENST00000514901
Ensembl Acc Id: ENSP00000421304   ⟸   ENST00000514987
Ensembl Acc Id: ENSP00000512003   ⟸   ENST00000695546
Ensembl Acc Id: ENSP00000512010   ⟸   ENST00000695552
Ensembl Acc Id: ENSP00000512006   ⟸   ENST00000695550
Ensembl Acc Id: ENSP00000512012   ⟸   ENST00000695554
Ensembl Acc Id: ENSP00000512011   ⟸   ENST00000695553
Ensembl Acc Id: ENSP00000512004   ⟸   ENST00000695547
Ensembl Acc Id: ENSP00000512013   ⟸   ENST00000695555
Ensembl Acc Id: ENSP00000512014   ⟸   ENST00000695556
Ensembl Acc Id: ENSP00000512007   ⟸   ENST00000695551
Ensembl Acc Id: ENSP00000512005   ⟸   ENST00000695549
RefSeq Acc Id: XP_047271739   ⟸   XM_047415783
- Peptide Label: isoform X2
- UniProtKB: Q53FD7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047271741   ⟸   XM_047415785
- Peptide Label: isoform X3
- UniProtKB: A0A8Q3WLP2 (UniProtKB/TrEMBL),   B4DRV5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047271740   ⟸   XM_047415784
- Peptide Label: isoform X3
- UniProtKB: A0A8Q3WLP2 (UniProtKB/TrEMBL),   B4DRV5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047271742   ⟸   XM_047415786
- Peptide Label: isoform X4
- UniProtKB: A0A8Q3SHX2 (UniProtKB/TrEMBL),   A0A8Q3WLY5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054206167   ⟸   XM_054350192
- Peptide Label: isoform X2
- UniProtKB: Q53FD7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054206166   ⟸   XM_054350191
- Peptide Label: isoform X1
- UniProtKB: Q53FD7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054206168   ⟸   XM_054350193
- Peptide Label: isoform X3
- UniProtKB: A0A8Q3WLP2 (UniProtKB/TrEMBL),   B4DRV5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054206169   ⟸   XM_054350194
- Peptide Label: isoform X4
- UniProtKB: A0A8Q3SHX2 (UniProtKB/TrEMBL),   A0A8Q3WLY5 (UniProtKB/TrEMBL)
Protein Domains
Nucleoporin Nup54 alpha-helical   Nup54 C-terminal interacting

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7Z3B4-F1-model_v2 AlphaFold Q7Z3B4 1-507 view protein structure

Promoters
RGD ID:6867772
Promoter ID:EPDNEW_H7051
Type:initiation region
Name:NUP54_1
Description:nucleoporin 54
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
GRCh38476,148,397 - 76,148,457EPDNEW
RGD ID:6802504
Promoter ID:HG_KWN:48521
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:ENST00000342467,   NM_017426,   UC003HJT.1,   UC010IJE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36477,288,324 - 77,288,824 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17359 AgrOrtholog
COSMIC NUP54 COSMIC
Ensembl Genes ENSG00000138750 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264883 ENTREZGENE
  ENST00000264883.8 UniProtKB/Swiss-Prot
  ENST00000502850.5 UniProtKB/TrEMBL
  ENST00000507257 ENTREZGENE
  ENST00000507257.6 UniProtKB/TrEMBL
  ENST00000508465.6 UniProtKB/TrEMBL
  ENST00000512151.5 UniProtKB/TrEMBL
  ENST00000513352.1 UniProtKB/TrEMBL
  ENST00000514987 ENTREZGENE
  ENST00000514987.6 UniProtKB/Swiss-Prot
  ENST00000515460 ENTREZGENE
  ENST00000515460.6 UniProtKB/TrEMBL
  ENST00000695546.1 UniProtKB/TrEMBL
  ENST00000695547.1 UniProtKB/TrEMBL
  ENST00000695549.1 UniProtKB/TrEMBL
  ENST00000695550 ENTREZGENE
  ENST00000695550.2 UniProtKB/TrEMBL
  ENST00000695551.1 UniProtKB/TrEMBL
  ENST00000695552.2 UniProtKB/TrEMBL
  ENST00000695553.2 UniProtKB/TrEMBL
  ENST00000695554.1 UniProtKB/TrEMBL
  ENST00000695555.2 UniProtKB/TrEMBL
  ENST00000695556 ENTREZGENE
  ENST00000695556.1 UniProtKB/TrEMBL
  ENST00000695557 ENTREZGENE
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Single helix bin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138750 GTEx
HGNC ID HGNC:17359 ENTREZGENE
Human Proteome Map NUP54 Human Proteome Map
InterPro Nup54/Nup57/Nup44 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nup54_alpha-helical_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nup54_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:53371 UniProtKB/Swiss-Prot
NCBI Gene 53371 ENTREZGENE
OMIM 607607 OMIM
PANTHER NUCLEOPORIN P54 UniProtKB/Swiss-Prot
  NUCLEOPORIN P54 UniProtKB/TrEMBL
  NUCLEOPORIN P54 UniProtKB/TrEMBL
  PTHR13000 UniProtKB/Swiss-Prot
Pfam Nup54 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nup54_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31853 PharmGKB
UniProt A0A8Q3SHX2 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3SI16_HUMAN UniProtKB/TrEMBL
  A0A8Q3WKJ4_HUMAN UniProtKB/TrEMBL
  A0A8Q3WKK2_HUMAN UniProtKB/TrEMBL
  A0A8Q3WKL3_HUMAN UniProtKB/TrEMBL
  A0A8Q3WKP8_HUMAN UniProtKB/TrEMBL
  A0A8Q3WL42_HUMAN UniProtKB/TrEMBL
  A0A8Q3WLP2 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3WLY5 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Z5F6C8_HUMAN UniProtKB/TrEMBL
  B2RCK7 ENTREZGENE
  B4DRV5 ENTREZGENE, UniProtKB/TrEMBL
  B4DT35 ENTREZGENE
  D6RB65_HUMAN UniProtKB/TrEMBL
  D6RBF7_HUMAN UniProtKB/TrEMBL
  D6RFI8_HUMAN UniProtKB/TrEMBL
  NUP54_HUMAN UniProtKB/Swiss-Prot
  Q53FD7 ENTREZGENE, UniProtKB/TrEMBL
  Q7Z3B4 ENTREZGENE
  Q96EA7 ENTREZGENE
  Q9NVL5 ENTREZGENE
  Q9P0I1 ENTREZGENE
UniProt Secondary A0A8Q3WKJ3 UniProtKB/TrEMBL
  B2RCK7 UniProtKB/Swiss-Prot
  B4DT35 UniProtKB/Swiss-Prot
  Q96EA7 UniProtKB/Swiss-Prot
  Q9NVL5 UniProtKB/Swiss-Prot
  Q9P0I1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 NUP54  nucleoporin 54    nucleoporin 54kDa  Symbol and/or name change 5135510 APPROVED