NUP160 (nucleoporin 160) - Rat Genome Database

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Gene: NUP160 (nucleoporin 160) Homo sapiens
Analyze
Symbol: NUP160
Name: nucleoporin 160
RGD ID: 1322303
HGNC Page HGNC:18017
Description: A structural constituent of nuclear pore. Involved in mRNA export from nucleus and nephron development. Located in kinetochore. Part of nuclear pore outer ring. Implicated in nephrotic syndrome type 19.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 160 kDa nucleoporin; DKFZp686M14102; MGC150678; MGC150679; NPHS19; nuclear pore complex protein Nup160; nucleoporin 160kD; nucleoporin 160kDa; nucleoporin Nup160
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
GRCh381147,778,118 - 47,848,544 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1147,778,087 - 47,848,555 (-)EnsemblGRCh38hg38GRCh38
GRCh371147,799,670 - 47,870,096 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361147,756,246 - 47,826,633 (-)NCBINCBI36Build 36hg18NCBI36
Build 341147,756,245 - 47,826,633NCBI
Celera1147,947,516 - 48,018,167 (-)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1147,505,182 - 47,575,824 (-)NCBIHuRef
CHM1_11147,798,918 - 47,869,361 (-)NCBICHM1_1
T2T-CHM13v2.01147,943,085 - 48,013,487 (-)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

Biological Process

Cellular Component
cytosol  (TAS)
kinetochore  (IDA)
nuclear envelope  (IDA,TAS)
nuclear pore  (IBA,IDA,IEA,NAS)
nuclear pore outer ring  (IDA,NAS)
nucleus  (IEA)

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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8724849   PMID:10601273   PMID:11564755   PMID:11684705   PMID:12228227   PMID:12477932   PMID:14702039   PMID:15146057   PMID:15146197   PMID:15231747   PMID:15489334   PMID:16565220  
PMID:16807356   PMID:17043677   PMID:17081983   PMID:17098863   PMID:17353931   PMID:17360435   PMID:17363900   PMID:18172010   PMID:18187620   PMID:19576787   PMID:19615732   PMID:19864462  
PMID:20081840   PMID:20360068   PMID:20676042   PMID:20974814   PMID:21145461   PMID:21873635   PMID:22031293   PMID:22586326   PMID:22863883   PMID:22955883   PMID:23858473   PMID:24255178  
PMID:24292684   PMID:24315095   PMID:24457600   PMID:24509916   PMID:24711643   PMID:24927568   PMID:24981860   PMID:24984263   PMID:25173106   PMID:25315684   PMID:25416956   PMID:25609649  
PMID:25693804   PMID:25904327   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26460568   PMID:26496610   PMID:26527604   PMID:26598607   PMID:26638075   PMID:26674342   PMID:26687681  
PMID:26831064   PMID:26972000   PMID:27016207   PMID:27173435   PMID:27609421   PMID:27634302   PMID:28192407   PMID:28514442   PMID:28675297   PMID:29180619   PMID:29229926   PMID:29467282  
PMID:29507755   PMID:29509190   PMID:29568061   PMID:29844126   PMID:29955894   PMID:30179222   PMID:30425250   PMID:30462309   PMID:30463901   PMID:30884312   PMID:30948266   PMID:31056421  
PMID:31091453   PMID:31413325   PMID:31586073   PMID:31620119   PMID:31980649   PMID:31995728   PMID:32344865   PMID:32687490   PMID:32707033   PMID:32780723   PMID:32786267   PMID:32807901  
PMID:32877691   PMID:33144569   PMID:33239621   PMID:33536335   PMID:33545068   PMID:33729478   PMID:33766124   PMID:33853758   PMID:33961781   PMID:34079125   PMID:34091597   PMID:34244565  
PMID:34373451   PMID:34436835   PMID:34901782   PMID:35007762   PMID:35032548   PMID:35182466   PMID:35198878   PMID:35241646   PMID:35271311   PMID:35337019   PMID:35439318   PMID:35559673  
PMID:35563538   PMID:35676246   PMID:35831314   PMID:35844135   PMID:35906200   PMID:35944360   PMID:36057605   PMID:36114006   PMID:36168628   PMID:36180527   PMID:36215168   PMID:36517590  
PMID:36526897   PMID:37071682   PMID:37167062   PMID:37317656   PMID:37516964   PMID:37689310   PMID:37827155   PMID:38043110   PMID:38334954   PMID:38650033   PMID:39147351   PMID:39358380  


Genomics

Comparative Map Data
NUP160
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381147,778,118 - 47,848,544 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1147,778,087 - 47,848,555 (-)EnsemblGRCh38hg38GRCh38
GRCh371147,799,670 - 47,870,096 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361147,756,246 - 47,826,633 (-)NCBINCBI36Build 36hg18NCBI36
Build 341147,756,245 - 47,826,633NCBI
Celera1147,947,516 - 48,018,167 (-)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1147,505,182 - 47,575,824 (-)NCBIHuRef
CHM1_11147,798,918 - 47,869,361 (-)NCBICHM1_1
T2T-CHM13v2.01147,943,085 - 48,013,487 (-)NCBIT2T-CHM13v2.0
Nup160
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39290,504,405 - 90,570,217 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl290,507,559 - 90,566,672 (+)EnsemblGRCm39 Ensembl
GRCm38290,677,215 - 90,739,327 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl290,677,215 - 90,736,328 (+)EnsemblGRCm38mm10GRCm38
MGSCv37290,517,372 - 90,576,485 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36290,478,054 - 90,537,167 (+)NCBIMGSCv36mm8
Celera292,062,066 - 92,121,100 (+)NCBICelera
Cytogenetic Map2E1NCBI
cM Map250.32NCBI
Nup160
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8397,120,723 - 97,183,227 (+)NCBIGRCr8
mRatBN7.2376,665,786 - 76,729,296 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl376,665,786 - 76,724,565 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx380,143,146 - 80,201,929 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0388,741,649 - 88,800,430 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0386,592,941 - 86,652,026 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0379,496,239 - 79,562,163 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl379,498,179 - 79,551,128 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0386,204,592 - 86,269,042 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4375,041,873 - 75,102,540 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1374,970,326 - 74,998,135 (+)NCBI
Celera375,875,233 - 75,933,741 (+)NCBICelera
Cytogenetic Map3q24NCBI
Nup160
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955422561,339 - 599,575 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955422561,339 - 598,598 (+)NCBIChiLan1.0ChiLan1.0
NUP160
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2949,987,480 - 50,062,376 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11150,007,198 - 50,081,343 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01147,732,678 - 47,805,906 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11148,281,953 - 48,352,998 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1148,281,972 - 48,352,998 (-)Ensemblpanpan1.1panPan2
NUP160
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11841,859,697 - 41,902,677 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1841,855,670 - 41,902,247 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1840,609,926 - 40,634,280 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01842,534,197 - 42,558,608 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11842,022,368 - 42,046,343 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01841,575,386 - 41,599,418 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01842,305,224 - 42,329,648 (+)NCBIUU_Cfam_GSD_1.0
Nup160
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494719,324,045 - 19,379,797 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365621,435,973 - 1,490,890 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365621,435,938 - 1,491,439 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NUP160
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl214,840,410 - 14,891,677 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1214,840,056 - 14,891,567 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2215,900,356 - 15,956,637 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NUP160
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1117,468,783 - 17,540,963 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl117,469,576 - 17,541,117 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038114,754,777 - 114,826,796 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nup160
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247671,099,760 - 1,141,914 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247671,099,824 - 1,139,179 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NUP160
268 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1 copy number loss See cases [RCV000051014] Chr11:46840454..48643003 [GRCh38]
Chr11:46862005..48664555 [GRCh37]
Chr11:46818581..48621131 [NCBI36]
Chr11:11p11.2		 pathogenic
GRCh38/hg38 11p11.2(chr11:47743903-48643003)x3 copy number gain See cases [RCV000051907] Chr11:47743903..48643003 [GRCh38]
Chr11:47765455..48664555 [GRCh37]
Chr11:47722031..48621131 [NCBI36]
Chr11:11p11.2		 uncertain significance
GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] Chr11:36508280..48643003 [GRCh38]
Chr11:36529830..48664555 [GRCh37]
Chr11:36486406..48621131 [NCBI36]
Chr11:11p12-11.2		 pathogenic
NM_015231.1(NUP160):c.2179C>T (p.Arg727Cys) single nucleotide variant Malignant melanoma [RCV000062226] Chr11:47812126 [GRCh38]
Chr11:47833678 [GRCh37]
Chr11:47790254 [NCBI36]
Chr11:11p11.2		 not provided
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 copy number loss See cases [RCV000135405] Chr11:41118322..48643003 [GRCh38]
Chr11:41139872..48664555 [GRCh37]
Chr11:41096448..48621131 [NCBI36]
Chr11:11p12-11.2		 pathogenic
GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 copy number loss See cases [RCV000137391] Chr11:39179252..49135735 [GRCh38]
Chr11:39200802..49157287 [GRCh37]
Chr11:39157378..49113863 [NCBI36]
Chr11:11p12-11.12		 pathogenic
GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 copy number gain See cases [RCV000139422] Chr11:42727555..49135735 [GRCh38]
Chr11:42749105..49157287 [GRCh37]
Chr11:42705681..49113863 [NCBI36]
Chr11:11p12-11.12		 likely pathogenic
GRCh37/hg19 11p11.2-11.12(chr11:47711244-48976284)x3 copy number gain See cases [RCV000449235] Chr11:47711244..48976284 [GRCh37]
Chr11:11p11.2-11.12		 uncertain significance
GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 copy number loss See cases [RCV000446383] Chr11:42475897..48372559 [GRCh37]
Chr11:11p12-11.2		 pathogenic
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12		 pathogenic
GRCh37/hg19 11p11.2-11.12(chr11:47748831-48985791)x3 copy number gain See cases [RCV000510265] Chr11:47748831..48985791 [GRCh37]
Chr11:11p11.2-11.12		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_015231.3(NUP160):c.2347T>C (p.Ser783Pro) single nucleotide variant not specified [RCV004300640] Chr11:47806310 [GRCh38]
Chr11:47827862 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.32T>C (p.Phe11Ser) single nucleotide variant not specified [RCV004322821] Chr11:47848287 [GRCh38]
Chr11:47869839 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1372A>C (p.Ser458Arg) single nucleotide variant not specified [RCV004295826] Chr11:47815987 [GRCh38]
Chr11:47837539 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3503C>T (p.Ser1168Leu) single nucleotide variant not specified [RCV004318472] Chr11:47788518 [GRCh38]
Chr11:47810070 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2305G>A (p.Glu769Lys) single nucleotide variant Nephrotic syndrome, type 19 [RCV000721161] Chr11:47807109 [GRCh38]
Chr11:47828661 [GRCh37]
Chr11:11p11.2		 pathogenic|uncertain significance
NM_015231.3(NUP160):c.2626C>T (p.Arg876Ter) single nucleotide variant Nephrotic syndrome, type 19 [RCV000721162] Chr11:47803485 [GRCh38]
Chr11:47825037 [GRCh37]
Chr11:11p11.2		 pathogenic|uncertain significance
GRCh37/hg19 11p11.2(chr11:47773563-48403235)x3 copy number gain not provided [RCV000683344] Chr11:47773563..48403235 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p11.2-11.12(chr11:47720039-48891877)x3 copy number gain not provided [RCV000683356] Chr11:47720039..48891877 [GRCh37]
Chr11:11p11.2-11.12		 likely benign
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p11.2(chr11:47760768-48518893)x3 copy number gain not provided [RCV000750031] Chr11:47760768..48518893 [GRCh37]
Chr11:11p11.2		 benign
GRCh37/hg19 11p11.2(chr11:47825128-48601837)x3 copy number gain not provided [RCV000750032] Chr11:47825128..48601837 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.3(NUP160):c.1255C>T (p.Pro419Ser) single nucleotide variant not specified [RCV004288358] Chr11:47819379 [GRCh38]
Chr11:47840931 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.4143A>G (p.Lys1381=) single nucleotide variant NUP160-related disorder [RCV003918511]|not provided [RCV000972824] Chr11:47779171 [GRCh38]
Chr11:47800723 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.3(NUP160):c.1881A>G (p.Lys627=) single nucleotide variant NUP160-related disorder [RCV003968213]|not provided [RCV000898530] Chr11:47812399 [GRCh38]
Chr11:47833951 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.3(NUP160):c.4056C>T (p.Tyr1352=) single nucleotide variant NUP160-related disorder [RCV003950636]|not provided [RCV000904741] Chr11:47780406 [GRCh38]
Chr11:47801958 [GRCh37]
Chr11:11p11.2		 benign|likely benign
GRCh37/hg19 11p11.2(chr11:47852329-48010053)x1 copy number loss not provided [RCV001006410] Chr11:47852329..48010053 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2344+15A>G single nucleotide variant not provided [RCV003106339] Chr11:47807055 [GRCh38]
Chr11:47828607 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.3(NUP160):c.702A>G (p.Thr234=) single nucleotide variant not provided [RCV003104259] Chr11:47837568 [GRCh38]
Chr11:47859120 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2574+11T>G single nucleotide variant Nephrotic syndrome, type 19 [RCV001788896]|not provided [RCV002074097] Chr11:47804538 [GRCh38]
Chr11:47826090 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.3(NUP160):c.2968A>G (p.Ile990Val) single nucleotide variant Nephrotic syndrome, type 19 [RCV001330629] Chr11:47798184 [GRCh38]
Chr11:47819736 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.9:g.(?_45827353)_(47804770_?)dup duplication Leukocyte adhesion deficiency type II [RCV001296459] Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.4148_4149del (p.Glu1383fs) deletion Nephrotic syndrome, type 19 [RCV001391129] Chr11:47779165..47779166 [GRCh38]
Chr11:47800717..47800718 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_015231.3(NUP160):c.949A>G (p.Thr317Ala) single nucleotide variant NUP160-related disorder [RCV003976181]|Nephrotic syndrome, type 19 [RCV001788897]|not provided [RCV002074098] Chr11:47835701 [GRCh38]
Chr11:47857253 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.3(NUP160):c.2861C>T (p.Thr954Ile) single nucleotide variant not provided [RCV002044186] Chr11:47798396 [GRCh38]
Chr11:47819948 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.902G>A (p.Arg301Gln) single nucleotide variant not provided [RCV001864646] Chr11:47835748 [GRCh38]
Chr11:47857300 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2000T>A (p.Met667Lys) single nucleotide variant not provided [RCV002014355] Chr11:47812203 [GRCh38]
Chr11:47833755 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1436A>G (p.Tyr479Cys) single nucleotide variant not provided [RCV002050384] Chr11:47815627 [GRCh38]
Chr11:47837179 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1077+5G>A single nucleotide variant Nephrotic syndrome, type 19 [RCV001844383] Chr11:47822082 [GRCh38]
Chr11:47843634 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_015231.3(NUP160):c.1243G>A (p.Asp415Asn) single nucleotide variant not provided [RCV002021995] Chr11:47819391 [GRCh38]
Chr11:47840943 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p11.2-11.12(chr11:47711244-48976284) copy number gain not specified [RCV002052928] Chr11:47711244..48976284 [GRCh37]
Chr11:11p11.2-11.12		 uncertain significance
NM_015231.3(NUP160):c.216G>T (p.Lys72Asn) single nucleotide variant not provided [RCV002000430] Chr11:47840585 [GRCh38]
Chr11:47862137 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.535A>G (p.Asn179Asp) single nucleotide variant NUP160-related disorder [RCV004752079]|not provided [RCV001894635] Chr11:47839954 [GRCh38]
Chr11:47861506 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3608T>A (p.Leu1203His) single nucleotide variant not provided [RCV001901025]|not specified [RCV004041537] Chr11:47788218 [GRCh38]
Chr11:47809770 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2018A>G (p.Tyr673Cys) single nucleotide variant not provided [RCV001989138]|not specified [RCV004045360] Chr11:47812185 [GRCh38]
Chr11:47833737 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2918A>G (p.His973Arg) single nucleotide variant not provided [RCV001932516] Chr11:47798234 [GRCh38]
Chr11:47819786 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.-6G>A single nucleotide variant not provided [RCV001941462] Chr11:47848324 [GRCh38]
Chr11:47869876 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2518C>T (p.Pro840Ser) single nucleotide variant not provided [RCV001893231]|not specified [RCV004041433] Chr11:47804605 [GRCh38]
Chr11:47826157 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1315T>C (p.Cys439Arg) single nucleotide variant not provided [RCV001897494] Chr11:47818070 [GRCh38]
Chr11:47839622 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1237A>G (p.Ile413Val) single nucleotide variant not provided [RCV001886049]|not specified [RCV004041079] Chr11:47819397 [GRCh38]
Chr11:47840949 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1169T>C (p.Phe390Ser) single nucleotide variant not provided [RCV001911285] Chr11:47821730 [GRCh38]
Chr11:47843282 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.927A>G (p.Lys309=) single nucleotide variant not provided [RCV002072449] Chr11:47835723 [GRCh38]
Chr11:47857275 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2869G>A (p.Gly957Ser) single nucleotide variant NUP160-related disorder [RCV003971048]|not provided [RCV002118515] Chr11:47798388 [GRCh38]
Chr11:47819940 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.3(NUP160):c.3644+15A>T single nucleotide variant not provided [RCV002137999] Chr11:47788167 [GRCh38]
Chr11:47809719 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.16G>T (p.Ala6Ser) single nucleotide variant not provided [RCV002132054] Chr11:47848303 [GRCh38]
Chr11:47869855 [GRCh37]
Chr11:11p11.2		 benign|likely benign
NM_015231.3(NUP160):c.3789G>A (p.Glu1263=) single nucleotide variant not provided [RCV002170179] Chr11:47785021 [GRCh38]
Chr11:47806573 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.1692= (p.Asp564=) variation not provided [RCV002087092] Chr11:47813040 [GRCh38]
Chr11:47834592 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.3(NUP160):c.1176-5T>C single nucleotide variant not provided [RCV002071291] Chr11:47819463 [GRCh38]
Chr11:47841015 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.841-16_841-15dup duplication not provided [RCV002201406] Chr11:47835823..47835824 [GRCh38]
Chr11:47857375..47857376 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.3(NUP160):c.657A>G (p.Ser219=) single nucleotide variant not provided [RCV002205945] Chr11:47837613 [GRCh38]
Chr11:47859165 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.101-9A>G single nucleotide variant not provided [RCV002148853] Chr11:47847968 [GRCh38]
Chr11:47869520 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.1896G>A (p.Arg632=) single nucleotide variant not provided [RCV002086838] Chr11:47812384 [GRCh38]
Chr11:47833936 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.3(NUP160):c.16G>A (p.Ala6Thr) single nucleotide variant not provided [RCV002159897] Chr11:47848303 [GRCh38]
Chr11:47869855 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.3(NUP160):c.725+12C>T single nucleotide variant not provided [RCV002201119] Chr11:47837533 [GRCh38]
Chr11:47859085 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.1692C>T (p.Asp564=) single nucleotide variant not provided [RCV002132321] Chr11:47813040 [GRCh38]
Chr11:47834592 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.3(NUP160):c.2740C>T (p.Arg914Cys) single nucleotide variant not provided [RCV003115677] Chr11:47801864 [GRCh38]
Chr11:47823416 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3747-5del deletion not provided [RCV003121356] Chr11:47785068 [GRCh38]
Chr11:47806620 [GRCh37]
Chr11:11p11.2		 benign
NC_000011.9:g.(?_45827353)_(47804770_?)del deletion Leukocyte adhesion deficiency type II [RCV003119908] Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_015231.3(NUP160):c.3891G>C (p.Lys1297Asn) single nucleotide variant Nephrotic syndrome, type 19 [RCV004785116] Chr11:47783196 [GRCh38]
Chr11:47804748 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 copy number gain See cases [RCV002286338] Chr11:51581311..54891247 [GRCh37]
Chr11:11p11.2-q12.2		 pathogenic
NM_015231.3(NUP160):c.3775T>C (p.Ser1259Pro) single nucleotide variant not specified [RCV004309853] Chr11:47785035 [GRCh38]
Chr11:47806587 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3272A>T (p.Tyr1091Phe) single nucleotide variant not specified [RCV004317510] Chr11:47792862 [GRCh38]
Chr11:47814414 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.647-16T>G single nucleotide variant not provided [RCV002776286] Chr11:47837639 [GRCh38]
Chr11:47859191 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.307G>A (p.Val103Ile) single nucleotide variant NUP160-related disorder [RCV003943800]|not provided [RCV003095662] Chr11:47840494 [GRCh38]
Chr11:47862046 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2273+19A>G single nucleotide variant not provided [RCV002771253] Chr11:47808377 [GRCh38]
Chr11:47829929 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.3(NUP160):c.1110G>A (p.Thr370=) single nucleotide variant not provided [RCV002614274] Chr11:47821789 [GRCh38]
Chr11:47843341 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1300A>G (p.Thr434Ala) single nucleotide variant not specified [RCV004160504] Chr11:47818085 [GRCh38]
Chr11:47839637 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2794-5G>A single nucleotide variant not provided [RCV002970755] Chr11:47798468 [GRCh38]
Chr11:47820020 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.3(NUP160):c.2761G>A (p.Val921Met) single nucleotide variant not specified [RCV004080995] Chr11:47801843 [GRCh38]
Chr11:47823395 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3002G>A (p.Arg1001Gln) single nucleotide variant NUP160-related disorder [RCV003396882]|not specified [RCV004228910] Chr11:47798057 [GRCh38]
Chr11:47819609 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1249C>G (p.Gln417Glu) single nucleotide variant not provided [RCV002975424]|not specified [RCV004068268] Chr11:47819385 [GRCh38]
Chr11:47840937 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3584T>C (p.Ile1195Thr) single nucleotide variant not specified [RCV004129806] Chr11:47788242 [GRCh38]
Chr11:47809794 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.110A>G (p.Asn37Ser) single nucleotide variant not provided [RCV002614467] Chr11:47847950 [GRCh38]
Chr11:47869502 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3554T>G (p.Leu1185Trp) single nucleotide variant not provided [RCV002615217] Chr11:47788272 [GRCh38]
Chr11:47809824 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2838T>G (p.Ile946Met) single nucleotide variant not provided [RCV002731537] Chr11:47798419 [GRCh38]
Chr11:47819971 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.460A>G (p.Thr154Ala) single nucleotide variant not provided [RCV002615237] Chr11:47840029 [GRCh38]
Chr11:47861581 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.4168G>C (p.Asp1390His) single nucleotide variant not provided [RCV003075131] Chr11:47779146 [GRCh38]
Chr11:47800698 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1802C>T (p.Pro601Leu) single nucleotide variant NUP160-related disorder [RCV003906309]|not provided [RCV002904120] Chr11:47812930 [GRCh38]
Chr11:47834482 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2183T>C (p.Leu728Pro) single nucleotide variant not provided [RCV002616952] Chr11:47808486 [GRCh38]
Chr11:47830038 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2296T>C (p.Ser766Pro) single nucleotide variant not provided [RCV002994043] Chr11:47807118 [GRCh38]
Chr11:47828670 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.183C>G (p.Phe61Leu) single nucleotide variant not specified [RCV004149457] Chr11:47847877 [GRCh38]
Chr11:47869429 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.579C>G (p.Ala193=) single nucleotide variant NUP160-related disorder [RCV003936429]|not provided [RCV002947944] Chr11:47839910 [GRCh38]
Chr11:47861462 [GRCh37]
Chr11:11p11.2		 benign|likely benign
NM_015231.3(NUP160):c.2771C>G (p.Pro924Arg) single nucleotide variant not specified [RCV004141621] Chr11:47801833 [GRCh38]
Chr11:47823385 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.347G>A (p.Arg116His) single nucleotide variant not provided [RCV002756409] Chr11:47840454 [GRCh38]
Chr11:47862006 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3717C>A (p.Leu1239=) single nucleotide variant not provided [RCV003055502] Chr11:47786482 [GRCh38]
Chr11:47808034 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.3747-19C>A single nucleotide variant not provided [RCV002571837] Chr11:47785082 [GRCh38]
Chr11:47806634 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.999+3A>G single nucleotide variant not provided [RCV003019863] Chr11:47835648 [GRCh38]
Chr11:47857200 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3132C>A (p.His1044Gln) single nucleotide variant not specified [RCV004157149] Chr11:47797834 [GRCh38]
Chr11:47819386 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3746+9C>G single nucleotide variant not provided [RCV002821054] Chr11:47786444 [GRCh38]
Chr11:47807996 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.4120-3T>C single nucleotide variant NUP160-related disorder [RCV003953932]|not provided [RCV002620545] Chr11:47779197 [GRCh38]
Chr11:47800749 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_015231.3(NUP160):c.2269A>G (p.Thr757Ala) single nucleotide variant not provided [RCV003053215]|not specified [RCV004070320] Chr11:47808400 [GRCh38]
Chr11:47829952 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1897A>G (p.Asn633Asp) single nucleotide variant not specified [RCV004192685] Chr11:47812383 [GRCh38]
Chr11:47833935 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1260+6_1260+7insTA insertion not provided [RCV002570155] Chr11:47819367..47819368 [GRCh38]
Chr11:47840919..47840920 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.548C>G (p.Ser183Cys) single nucleotide variant not specified [RCV004148407] Chr11:47839941 [GRCh38]
Chr11:47861493 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3748G>A (p.Ala1250Thr) single nucleotide variant not specified [RCV004106693] Chr11:47785062 [GRCh38]
Chr11:47806614 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2722T>C (p.Phe908Leu) single nucleotide variant not provided [RCV002637308] Chr11:47801882 [GRCh38]
Chr11:47823434 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1009T>G (p.Phe337Val) single nucleotide variant not specified [RCV004165169] Chr11:47822155 [GRCh38]
Chr11:47843707 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2569T>C (p.Leu857=) single nucleotide variant not provided [RCV002619330] Chr11:47804554 [GRCh38]
Chr11:47826106 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.932G>A (p.Arg311Gln) single nucleotide variant not specified [RCV004130692] Chr11:47835718 [GRCh38]
Chr11:47857270 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1696G>T (p.Ala566Ser) single nucleotide variant not provided [RCV002659430] Chr11:47813036 [GRCh38]
Chr11:47834588 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1718T>C (p.Ile573Thr) single nucleotide variant not specified [RCV004075995] Chr11:47813014 [GRCh38]
Chr11:47834566 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.127G>A (p.Val43Ile) single nucleotide variant not specified [RCV004240625] Chr11:47847933 [GRCh38]
Chr11:47869485 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2268C>T (p.Asp756=) single nucleotide variant not provided [RCV002913904] Chr11:47808401 [GRCh38]
Chr11:47829953 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.3(NUP160):c.3888+6C>T single nucleotide variant not provided [RCV002706505] Chr11:47784916 [GRCh38]
Chr11:47806468 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.283C>T (p.Arg95Cys) single nucleotide variant not provided [RCV002658473] Chr11:47840518 [GRCh38]
Chr11:47862070 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3856C>A (p.Pro1286Thr) single nucleotide variant not specified [RCV004077397] Chr11:47784954 [GRCh38]
Chr11:47806506 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.2(NUP160):c.64T>G (p.Cys22Gly) single nucleotide variant not specified [RCV004092911] Chr11:47848357 [GRCh38]
Chr11:47869909 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3813G>T (p.Leu1271Phe) single nucleotide variant not specified [RCV004157730] Chr11:47784997 [GRCh38]
Chr11:47806549 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3746+19A>G single nucleotide variant not provided [RCV002570131] Chr11:47786434 [GRCh38]
Chr11:47807986 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2574+11T>C single nucleotide variant not provided [RCV002571144] Chr11:47804538 [GRCh38]
Chr11:47826090 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2592A>G (p.Leu864=) single nucleotide variant not provided [RCV003080919] Chr11:47803519 [GRCh38]
Chr11:47825071 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2403T>G (p.Ile801Met) single nucleotide variant not specified [RCV004222812] Chr11:47806254 [GRCh38]
Chr11:47827806 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.185C>T (p.Ser62Phe) single nucleotide variant not provided [RCV003053869] Chr11:47847875 [GRCh38]
Chr11:47869427 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.4012G>A (p.Glu1338Lys) single nucleotide variant not provided [RCV002848096] Chr11:47783075 [GRCh38]
Chr11:47804627 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1515A>G (p.Gln505=) single nucleotide variant not provided [RCV003002601] Chr11:47815548 [GRCh38]
Chr11:47837100 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2889+17A>C single nucleotide variant not provided [RCV002590995] Chr11:47798351 [GRCh38]
Chr11:47819903 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.881T>A (p.Val294Asp) single nucleotide variant not provided [RCV002706118] Chr11:47835769 [GRCh38]
Chr11:47857321 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3404C>T (p.Ala1135Val) single nucleotide variant not provided [RCV002592828] Chr11:47791935 [GRCh38]
Chr11:47813487 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3092T>C (p.Ile1031Thr) single nucleotide variant not specified [RCV004171612] Chr11:47797874 [GRCh38]
Chr11:47819426 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.4117G>A (p.Ala1373Thr) single nucleotide variant not specified [RCV004070871] Chr11:47780345 [GRCh38]
Chr11:47801897 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.991C>T (p.Arg331Ter) single nucleotide variant not provided [RCV002643308] Chr11:47835659 [GRCh38]
Chr11:47857211 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_015231.3(NUP160):c.1199C>T (p.Pro400Leu) single nucleotide variant not provided [RCV002574430] Chr11:47819435 [GRCh38]
Chr11:47840987 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1850+10A>C single nucleotide variant NUP160-related disorder [RCV003936387]|not provided [RCV002932580] Chr11:47812872 [GRCh38]
Chr11:47834424 [GRCh37]
Chr11:11p11.2		 benign|likely benign
NM_015231.3(NUP160):c.1040A>G (p.Tyr347Cys) single nucleotide variant not specified [RCV004230682] Chr11:47822124 [GRCh38]
Chr11:47843676 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1479C>G (p.Phe493Leu) single nucleotide variant not provided [RCV002933376]|not specified [RCV004067072] Chr11:47815584 [GRCh38]
Chr11:47837136 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.4039A>G (p.Met1347Val) single nucleotide variant not specified [RCV004206052] Chr11:47780423 [GRCh38]
Chr11:47801975 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.212+17G>T single nucleotide variant not provided [RCV002790283] Chr11:47847831 [GRCh38]
Chr11:47869383 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.3(NUP160):c.4014+14A>G single nucleotide variant not provided [RCV002786480] Chr11:47783059 [GRCh38]
Chr11:47804611 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2674-11del deletion not provided [RCV002711392] Chr11:47801941 [GRCh38]
Chr11:47823493 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.3(NUP160):c.1901C>T (p.Pro634Leu) single nucleotide variant not specified [RCV004165736] Chr11:47812379 [GRCh38]
Chr11:47833931 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.235_249del (p.Glu79_Glu83del) deletion not provided [RCV002928209] Chr11:47840552..47840566 [GRCh38]
Chr11:47862104..47862118 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2576A>G (p.Asp859Gly) single nucleotide variant not specified [RCV004133455] Chr11:47803535 [GRCh38]
Chr11:47825087 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3644+15del deletion not provided [RCV002790527] Chr11:47788167 [GRCh38]
Chr11:47809719 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.3(NUP160):c.1201G>C (p.Val401Leu) single nucleotide variant not specified [RCV004130766] Chr11:47819433 [GRCh38]
Chr11:47840985 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2248G>A (p.Ala750Thr) single nucleotide variant NUP160-related disorder [RCV003936424]|not provided [RCV002957494] Chr11:47808421 [GRCh38]
Chr11:47829973 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_015231.3(NUP160):c.1949A>T (p.Glu650Val) single nucleotide variant not specified [RCV004154970] Chr11:47812331 [GRCh38]
Chr11:47833883 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2848A>G (p.Thr950Ala) single nucleotide variant not specified [RCV004152239] Chr11:47798409 [GRCh38]
Chr11:47819961 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.410G>A (p.Arg137Gln) single nucleotide variant not provided [RCV002766676] Chr11:47840391 [GRCh38]
Chr11:47861943 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.516A>G (p.Ala172=) single nucleotide variant not provided [RCV002918241] Chr11:47839973 [GRCh38]
Chr11:47861525 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2140-11A>G single nucleotide variant not provided [RCV002642194] Chr11:47808540 [GRCh38]
Chr11:47830092 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.3574G>C (p.Asp1192His) single nucleotide variant not provided [RCV003006399] Chr11:47788252 [GRCh38]
Chr11:47809804 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3821A>G (p.His1274Arg) single nucleotide variant not specified [RCV004136271] Chr11:47784989 [GRCh38]
Chr11:47806541 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3661T>C (p.Phe1221Leu) single nucleotide variant not specified [RCV004126227] Chr11:47786538 [GRCh38]
Chr11:47808090 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.4014+8_4014+9insATGT insertion not provided [RCV002631735] Chr11:47783064..47783065 [GRCh38]
Chr11:47804616..47804617 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.1406A>G (p.Glu469Gly) single nucleotide variant not specified [RCV004131907] Chr11:47815953 [GRCh38]
Chr11:47837505 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1729C>T (p.Arg577Trp) single nucleotide variant not provided [RCV002576855] Chr11:47813003 [GRCh38]
Chr11:47834555 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.439A>G (p.Ser147Gly) single nucleotide variant not specified [RCV004179596] Chr11:47840050 [GRCh38]
Chr11:47861602 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.45C>G (p.Ser15Arg) single nucleotide variant not provided [RCV002602110] Chr11:47848274 [GRCh38]
Chr11:47869826 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1993A>G (p.Ile665Val) single nucleotide variant not provided [RCV002632326]|not specified [RCV004069039] Chr11:47812210 [GRCh38]
Chr11:47833762 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_015231.3(NUP160):c.2270C>T (p.Thr757Ile) single nucleotide variant not provided [RCV002770943] Chr11:47808399 [GRCh38]
Chr11:47829951 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3521-15T>C single nucleotide variant not provided [RCV002650333] Chr11:47788320 [GRCh38]
Chr11:47809872 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.8C>T (p.Ala3Val) single nucleotide variant not provided [RCV002746046] Chr11:47848311 [GRCh38]
Chr11:47869863 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2544G>A (p.Leu848=) single nucleotide variant NUP160-related disorder [RCV003906551]|not provided [RCV002647498] Chr11:47804579 [GRCh38]
Chr11:47826131 [GRCh37]
Chr11:11p11.2		 benign|likely benign
NM_015231.3(NUP160):c.1791C>T (p.Asn597=) single nucleotide variant not provided [RCV002715334] Chr11:47812941 [GRCh38]
Chr11:47834493 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.1730G>A (p.Arg577Gln) single nucleotide variant not provided [RCV004790449]|not specified [RCV004203369] Chr11:47813002 [GRCh38]
Chr11:47834554 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1340G>A (p.Arg447Gln) single nucleotide variant not provided [RCV002628778]|not specified [RCV004070727] Chr11:47816019 [GRCh38]
Chr11:47837571 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.63G>C (p.Arg21Ser) single nucleotide variant not specified [RCV004114521] Chr11:47848256 [GRCh38]
Chr11:47869808 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2041A>G (p.Ile681Val) single nucleotide variant not specified [RCV004187277] Chr11:47812162 [GRCh38]
Chr11:47833714 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.2(NUP160):c.11T>G (p.Leu4Arg) single nucleotide variant not specified [RCV004140380] Chr11:47848410 [GRCh38]
Chr11:47869962 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.999+13T>C single nucleotide variant not provided [RCV002578229] Chr11:47835638 [GRCh38]
Chr11:47857190 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2465A>G (p.Glu822Gly) single nucleotide variant not provided [RCV002598398] Chr11:47806192 [GRCh38]
Chr11:47827744 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3325G>T (p.Val1109Leu) single nucleotide variant not specified [RCV004197959] Chr11:47792809 [GRCh38]
Chr11:47814361 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2793+16G>A single nucleotide variant not provided [RCV002647106] Chr11:47801795 [GRCh38]
Chr11:47823347 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.151G>A (p.Gly51Ser) single nucleotide variant not specified [RCV004192660] Chr11:47847909 [GRCh38]
Chr11:47869461 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.4036C>G (p.Pro1346Ala) single nucleotide variant not provided [RCV002714896] Chr11:47780426 [GRCh38]
Chr11:47801978 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3754G>A (p.Asp1252Asn) single nucleotide variant not provided [RCV002938492] Chr11:47785056 [GRCh38]
Chr11:47806608 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3499C>T (p.Pro1167Ser) single nucleotide variant not provided [RCV002900133] Chr11:47788522 [GRCh38]
Chr11:47810074 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2335A>C (p.Asn779His) single nucleotide variant not specified [RCV004070946] Chr11:47807079 [GRCh38]
Chr11:47828631 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.931C>T (p.Arg311Trp) single nucleotide variant not provided [RCV002811751] Chr11:47835719 [GRCh38]
Chr11:47857271 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2237G>T (p.Ser746Ile) single nucleotide variant not provided [RCV002671190] Chr11:47808432 [GRCh38]
Chr11:47829984 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2223C>T (p.Leu741=) single nucleotide variant not provided [RCV002675579] Chr11:47808446 [GRCh38]
Chr11:47829998 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.4063A>G (p.Ile1355Val) single nucleotide variant not provided [RCV003546932]|not specified [RCV004190091] Chr11:47780399 [GRCh38]
Chr11:47801951 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.108A>G (p.Ala36=) single nucleotide variant not provided [RCV003088527] Chr11:47847952 [GRCh38]
Chr11:47869504 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.1034A>C (p.Asn345Thr) single nucleotide variant not specified [RCV004095460] Chr11:47822130 [GRCh38]
Chr11:47843682 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.94A>C (p.Ser32Arg) single nucleotide variant not provided [RCV003046555] Chr11:47848225 [GRCh38]
Chr11:47869777 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3370C>T (p.Pro1124Ser) single nucleotide variant not specified [RCV004174293] Chr11:47791969 [GRCh38]
Chr11:47813521 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.4119+15del deletion not provided [RCV003047078] Chr11:47780328 [GRCh38]
Chr11:47801880 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.840+16A>G single nucleotide variant not provided [RCV002580733] Chr11:47836871 [GRCh38]
Chr11:47858423 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.4083T>C (p.Ala1361=) single nucleotide variant not provided [RCV002856835] Chr11:47780379 [GRCh38]
Chr11:47801931 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.3926A>C (p.Asn1309Thr) single nucleotide variant not specified [RCV004222731] Chr11:47783161 [GRCh38]
Chr11:47804713 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3617C>T (p.Thr1206Met) single nucleotide variant not provided [RCV002584318] Chr11:47788209 [GRCh38]
Chr11:47809761 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.725+3G>A single nucleotide variant not provided [RCV002943169] Chr11:47837542 [GRCh38]
Chr11:47859094 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2003A>C (p.Asn668Thr) single nucleotide variant not specified [RCV004094960] Chr11:47812200 [GRCh38]
Chr11:47833752 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1903A>G (p.Ile635Val) single nucleotide variant not provided [RCV002605976] Chr11:47812377 [GRCh38]
Chr11:47833929 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.-17_-1dup (p.Met1fs) duplication not provided [RCV003072522] Chr11:47848318..47848319 [GRCh38]
Chr11:47869870..47869871 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_015231.3(NUP160):c.2673+10A>G single nucleotide variant not provided [RCV002586684] Chr11:47803428 [GRCh38]
Chr11:47824980 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2345-9_2345-4del microsatellite not provided [RCV002607922] Chr11:47806316..47806321 [GRCh38]
Chr11:47827868..47827873 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.3(NUP160):c.2741G>A (p.Arg914His) single nucleotide variant not specified [RCV004218973] Chr11:47801863 [GRCh38]
Chr11:47823415 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2977T>A (p.Ser993Thr) single nucleotide variant not provided [RCV002585236] Chr11:47798175 [GRCh38]
Chr11:47819727 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3974A>G (p.Asp1325Gly) single nucleotide variant not provided [RCV002605337] Chr11:47783113 [GRCh38]
Chr11:47804665 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2732G>A (p.Arg911His) single nucleotide variant Nephrotic syndrome, type 19 [RCV003131841] Chr11:47801872 [GRCh38]
Chr11:47823424 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3197T>C (p.Val1066Ala) single nucleotide variant not specified [RCV004321644] Chr11:47792937 [GRCh38]
Chr11:47814489 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3170G>A (p.Arg1057His) single nucleotide variant not specified [RCV004267415] Chr11:47797796 [GRCh38]
Chr11:47819348 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3465G>C (p.Leu1155Phe) single nucleotide variant not specified [RCV004248219] Chr11:47788556 [GRCh38]
Chr11:47810108 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.550A>G (p.Thr184Ala) single nucleotide variant not specified [RCV004249266] Chr11:47839939 [GRCh38]
Chr11:47861491 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.3317C>T (p.Ala1106Val) single nucleotide variant not specified [RCV004261908] Chr11:47792817 [GRCh38]
Chr11:47814369 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2252C>T (p.Thr751Ile) single nucleotide variant not specified [RCV004334041] Chr11:47808417 [GRCh38]
Chr11:47829969 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3514G>C (p.Val1172Leu) single nucleotide variant not specified [RCV004348325] Chr11:47788507 [GRCh38]
Chr11:47810059 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3049G>C (p.Val1017Leu) single nucleotide variant not specified [RCV004354173] Chr11:47798010 [GRCh38]
Chr11:47819562 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.4061C>T (p.Ser1354Phe) single nucleotide variant not specified [RCV004359350] Chr11:47780401 [GRCh38]
Chr11:47801953 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.146C>T (p.Ala49Val) single nucleotide variant not specified [RCV004339342] Chr11:47847914 [GRCh38]
Chr11:47869466 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3054G>C (p.Glu1018Asp) single nucleotide variant not specified [RCV004357164] Chr11:47798005 [GRCh38]
Chr11:47819557 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3546C>A (p.Val1182=) single nucleotide variant not provided [RCV003395782] Chr11:47788280 [GRCh38]
Chr11:47809832 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.3169C>T (p.Arg1057Cys) single nucleotide variant not provided [RCV003482016] Chr11:47797797 [GRCh38]
Chr11:47819349 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.423+128T>G single nucleotide variant NUP160-related disorder [RCV003906731]|not provided [RCV003395783] Chr11:47840250 [GRCh38]
Chr11:47861802 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.740C>T (p.Pro247Leu) single nucleotide variant NUP160-related disorder [RCV003417050]|not provided [RCV003553911] Chr11:47836987 [GRCh38]
Chr11:47858539 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_015231.3(NUP160):c.1675A>T (p.Ile559Leu) single nucleotide variant NUP160-related disorder [RCV003402956] Chr11:47813325 [GRCh38]
Chr11:47834877 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3889-14C>T single nucleotide variant not provided [RCV003696727] Chr11:47783212 [GRCh38]
Chr11:47804764 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2491T>G (p.Leu831Val) single nucleotide variant not provided [RCV003576251] Chr11:47806166 [GRCh38]
Chr11:47827718 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.10:g.47848405C>A single nucleotide variant NUP160-related disorder [RCV003954300]|not provided [RCV003578106] Chr11:47848405 [GRCh38]
Chr11:47869957 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.1365T>G (p.Leu455=) single nucleotide variant not provided [RCV003879294] Chr11:47815994 [GRCh38]
Chr11:47837546 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2574+20T>G single nucleotide variant not provided [RCV003824955] Chr11:47804529 [GRCh38]
Chr11:47826081 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.126C>G (p.Ala42=) single nucleotide variant not provided [RCV003852423] Chr11:47847934 [GRCh38]
Chr11:47869486 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.4080A>G (p.Gln1360=) single nucleotide variant not provided [RCV003670368] Chr11:47780382 [GRCh38]
Chr11:47801934 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.1695C>T (p.Ile565=) single nucleotide variant not provided [RCV003839986] Chr11:47813037 [GRCh38]
Chr11:47834589 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.384C>T (p.His128=) single nucleotide variant not provided [RCV003668338] Chr11:47840417 [GRCh38]
Chr11:47861969 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.4053A>G (p.Pro1351=) single nucleotide variant not provided [RCV003811270] Chr11:47780409 [GRCh38]
Chr11:47801961 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.3888+7G>C single nucleotide variant not provided [RCV003850354] Chr11:47784915 [GRCh38]
Chr11:47806467 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.3219G>C (p.Arg1073=) single nucleotide variant not provided [RCV003559242] Chr11:47792915 [GRCh38]
Chr11:47814467 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.1098C>G (p.Ala366=) single nucleotide variant not provided [RCV003552968] Chr11:47821801 [GRCh38]
Chr11:47843353 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.3(NUP160):c.3273T>C (p.Tyr1091=) single nucleotide variant not provided [RCV003728771] Chr11:47792861 [GRCh38]
Chr11:47814413 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.3747-19C>G single nucleotide variant not provided [RCV003823708] Chr11:47785082 [GRCh38]
Chr11:47806634 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2793+14T>C single nucleotide variant not provided [RCV003859413] Chr11:47801797 [GRCh38]
Chr11:47823349 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.1979-19A>G single nucleotide variant not provided [RCV003685266] Chr11:47812243 [GRCh38]
Chr11:47833795 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.646+8T>G single nucleotide variant not provided [RCV003866926] Chr11:47839835 [GRCh38]
Chr11:47861387 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.3087G>A (p.Val1029=) single nucleotide variant not provided [RCV003719907] Chr11:47797879 [GRCh38]
Chr11:47819431 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.3305G>A (p.Arg1102His) single nucleotide variant not provided [RCV003722664] Chr11:47792829 [GRCh38]
Chr11:47814381 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3885C>T (p.Tyr1295=) single nucleotide variant NUP160-related disorder [RCV003893585]|not provided [RCV003884098] Chr11:47784925 [GRCh38]
Chr11:47806477 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.213-19A>G single nucleotide variant not provided [RCV003853755] Chr11:47840607 [GRCh38]
Chr11:47862159 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.3747-20T>G single nucleotide variant not provided [RCV003818745] Chr11:47785083 [GRCh38]
Chr11:47806635 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.3219G>T (p.Arg1073=) single nucleotide variant NUP160-related disorder [RCV003948911]|not provided [RCV003711533] Chr11:47792915 [GRCh38]
Chr11:47814467 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.3187+9T>C single nucleotide variant not provided [RCV003729685] Chr11:47797770 [GRCh38]
Chr11:47819322 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2277G>A (p.Glu759=) single nucleotide variant not provided [RCV003680221] Chr11:47807137 [GRCh38]
Chr11:47828689 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2554T>A (p.Cys852Ser) single nucleotide variant not specified [RCV004488393] Chr11:47804569 [GRCh38]
Chr11:47826121 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3529T>G (p.Ser1177Ala) single nucleotide variant not specified [RCV004488401] Chr11:47788297 [GRCh38]
Chr11:47809849 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3410-4A>G single nucleotide variant NUP160-related disorder [RCV003969767] Chr11:47788615 [GRCh38]
Chr11:47810167 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.3908T>G (p.Leu1303Trp) single nucleotide variant not provided [RCV003887272] Chr11:47783179 [GRCh38]
Chr11:47804731 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.2(NUP160):c.11T>C (p.Leu4Pro) single nucleotide variant NUP160-related disorder [RCV003893921] Chr11:47848410 [GRCh38]
Chr11:47869962 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.87A>G (p.Thr29=) single nucleotide variant NUP160-related disorder [RCV003971893] Chr11:47848232 [GRCh38]
Chr11:47869784 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2140-3T>C single nucleotide variant NUP160-related disorder [RCV003967032] Chr11:47808532 [GRCh38]
Chr11:47830084 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.1585G>A (p.Gly529Arg) single nucleotide variant not specified [RCV004488387] Chr11:47813415 [GRCh38]
Chr11:47834967 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2242T>A (p.Cys748Ser) single nucleotide variant not specified [RCV004488391] Chr11:47808427 [GRCh38]
Chr11:47829979 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2951A>G (p.Tyr984Cys) single nucleotide variant not specified [RCV004488395] Chr11:47798201 [GRCh38]
Chr11:47819753 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3359C>T (p.Pro1120Leu) single nucleotide variant not specified [RCV004488397] Chr11:47791980 [GRCh38]
Chr11:47813532 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3407C>G (p.Pro1136Arg) single nucleotide variant not specified [RCV004488398] Chr11:47791932 [GRCh38]
Chr11:47813484 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3649A>G (p.Ile1217Val) single nucleotide variant not specified [RCV004488402] Chr11:47786550 [GRCh38]
Chr11:47808102 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3946G>A (p.Ala1316Thr) single nucleotide variant not specified [RCV004488404] Chr11:47783141 [GRCh38]
Chr11:47804693 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.423+105C>T single nucleotide variant NUP160-related disorder [RCV003899277] Chr11:47840273 [GRCh38]
Chr11:47861825 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.1693A>C (p.Ile565Leu) single nucleotide variant not specified [RCV004488388] Chr11:47813039 [GRCh38]
Chr11:47834591 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1966G>A (p.Gly656Arg) single nucleotide variant not specified [RCV004488390] Chr11:47812314 [GRCh38]
Chr11:47833866 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3068A>C (p.Asn1023Thr) single nucleotide variant not specified [RCV004488396] Chr11:47797991 [GRCh38]
Chr11:47819543 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3739G>A (p.Glu1247Lys) single nucleotide variant not specified [RCV004488403] Chr11:47786460 [GRCh38]
Chr11:47808012 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.2(NUP160):c.49G>A (p.Ala17Thr) single nucleotide variant not specified [RCV004488407] Chr11:47848372 [GRCh38]
Chr11:47869924 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.638A>G (p.Asp213Gly) single nucleotide variant not specified [RCV004488411] Chr11:47839851 [GRCh38]
Chr11:47861403 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1851-3T>C single nucleotide variant NUP160-related disorder [RCV003951703] Chr11:47812432 [GRCh38]
Chr11:47833984 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.3510T>G (p.Val1170=) single nucleotide variant NUP160-related disorder [RCV003904508] Chr11:47788511 [GRCh38]
Chr11:47810063 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2840A>G (p.Gln947Arg) single nucleotide variant not specified [RCV004488394] Chr11:47798417 [GRCh38]
Chr11:47819969 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3415C>G (p.Arg1139Gly) single nucleotide variant not specified [RCV004488400] Chr11:47788606 [GRCh38]
Chr11:47810158 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.307G>T (p.Val103Phe) single nucleotide variant not specified [RCV004488405] Chr11:47840494 [GRCh38]
Chr11:47862046 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.586G>A (p.Ala196Thr) single nucleotide variant not specified [RCV004488408] Chr11:47839903 [GRCh38]
Chr11:47861455 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.587C>A (p.Ala196Asp) single nucleotide variant not specified [RCV004488409] Chr11:47839902 [GRCh38]
Chr11:47861454 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.608G>C (p.Gly203Ala) single nucleotide variant not specified [RCV004488410] Chr11:47839881 [GRCh38]
Chr11:47861433 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2505-6G>A single nucleotide variant NUP160-related disorder [RCV003961501] Chr11:47804624 [GRCh38]
Chr11:47826176 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.423+139C>T single nucleotide variant NUP160-related disorder [RCV003937115] Chr11:47840239 [GRCh38]
Chr11:47861791 [GRCh37]
Chr11:11p11.2		 benign
NM_015231.2(NUP160):c.9C>T (p.His3=) single nucleotide variant NUP160-related disorder [RCV003971382] Chr11:47848412 [GRCh38]
Chr11:47869964 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.18C>T (p.Ala6=) single nucleotide variant NUP160-related disorder [RCV003899379] Chr11:47848301 [GRCh38]
Chr11:47869853 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2755G>A (p.Glu919Lys) single nucleotide variant Nephrotic syndrome, type 19 [RCV003990741] Chr11:47801849 [GRCh38]
Chr11:47823401 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2205A>G (p.Leu735=) single nucleotide variant NUP160-related disorder [RCV003944562] Chr11:47808464 [GRCh38]
Chr11:47830016 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.853C>T (p.Leu285=) single nucleotide variant NUP160-related disorder [RCV003904564] Chr11:47835797 [GRCh38]
Chr11:47857349 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.4164A>C (p.Lys1388Asn) single nucleotide variant not specified [RCV004488406] Chr11:47779150 [GRCh38]
Chr11:47800702 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1928G>A (p.Arg643Gln) single nucleotide variant not specified [RCV004638862] Chr11:47812352 [GRCh38]
Chr11:47833904 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.3767G>A (p.Arg1256Gln) single nucleotide variant not specified [RCV004652699] Chr11:47785043 [GRCh38]
Chr11:47806595 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.544G>A (p.Ala182Thr) single nucleotide variant not specified [RCV004652700] Chr11:47839945 [GRCh38]
Chr11:47861497 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.1699C>T (p.Arg567Trp) single nucleotide variant not specified [RCV004652701] Chr11:47813033 [GRCh38]
Chr11:47834585 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1957A>G (p.Met653Val) single nucleotide variant not specified [RCV004652702] Chr11:47812323 [GRCh38]
Chr11:47833875 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.592C>T (p.Pro198Ser) single nucleotide variant not specified [RCV004652703] Chr11:47839897 [GRCh38]
Chr11:47861449 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.1777A>C (p.Met593Leu) single nucleotide variant not specified [RCV004652704] Chr11:47812955 [GRCh38]
Chr11:47834507 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.423+71G>C single nucleotide variant NUP160-related disorder [RCV004752270] Chr11:47840307 [GRCh38]
Chr11:47861859 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_015231.3(NUP160):c.2574+8C>G single nucleotide variant NUP160-related disorder [RCV004730443] Chr11:47804541 [GRCh38]
Chr11:47826093 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2457T>C (p.Asn819=) single nucleotide variant NUP160-related disorder [RCV004752474] Chr11:47806200 [GRCh38]
Chr11:47827752 [GRCh37]
Chr11:11p11.2		 likely benign
NM_015231.3(NUP160):c.2176C>T (p.Gln726Ter) single nucleotide variant NUP160-related disorder [RCV004751104] Chr11:47808493 [GRCh38]
Chr11:47830045 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_015231.3(NUP160):c.690A>G (p.Gln230=) single nucleotide variant NUP160-related disorder [RCV004752167] Chr11:47837580 [GRCh38]
Chr11:47859132 [GRCh37]
Chr11:11p11.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2485
Count of miRNA genes:1040
Interacting mature miRNAs:1262
Transcripts:ENST00000378460, ENST00000526569, ENST00000526870, ENST00000527126, ENST00000527750, ENST00000528071, ENST00000528501, ENST00000529863, ENST00000530326, ENST00000531016, ENST00000532747, ENST00000532773
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
406954289GWAS603265_Hplatelet crit QTL GWAS603265 (human)2e-12platelet critplateletcrit (CMO:0001349)114778994447789945Human
406929571GWAS578547_Hpulse pressure measurement QTL GWAS578547 (human)3e-11pulse pressure measurementpulse pressure (CMO:0000292)114783919447839195Human
406920594GWAS569570_Hunipolar depression, mood disorder QTL GWAS569570 (human)9e-10unipolar depression, mood disorder114781416947814170Human
407082505GWAS731481_Hnon-lobar intracerebral hemorrhage QTL GWAS731481 (human)0.0000003non-lobar intracerebral hemorrhage114781475047814751Human

Markers in Region
RH91838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371147,861,054 - 47,861,207UniSTSGRCh37
Build 361147,817,630 - 47,817,783RGDNCBI36
Celera1148,009,164 - 48,009,317RGD
Cytogenetic Map11p11.2UniSTS
HuRef1147,566,821 - 47,566,974UniSTS
RH71446  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,498,969 - 66,499,148UniSTSGRCh37
GRCh371147,799,848 - 47,800,027UniSTSGRCh37
Build 361147,756,424 - 47,756,603RGDNCBI36
Celera1147,947,694 - 47,947,873RGD
Celera1763,070,758 - 63,070,937UniSTS
Cytogenetic Map11p11.2UniSTS
HuRef1761,884,705 - 61,884,884UniSTS
HuRef1147,505,360 - 47,505,539UniSTS
RH25410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371147,800,305 - 47,800,489UniSTSGRCh37
Build 361147,756,881 - 47,757,065RGDNCBI36
Celera1147,948,151 - 47,948,335RGD
Cytogenetic Map11p11.2UniSTS
HuRef1147,505,817 - 47,506,001UniSTS
RH118738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371147,836,980 - 47,837,254UniSTSGRCh37
Build 361147,793,556 - 47,793,830RGDNCBI36
Celera1147,984,823 - 47,985,097RGD
Cytogenetic Map11p11.2UniSTS
HuRef1147,542,777 - 47,543,051UniSTS
TNG Radiation Hybrid Map1122825.0UniSTS
NUP160_3793  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371147,799,751 - 47,800,610UniSTSGRCh37
Build 361147,756,327 - 47,757,186RGDNCBI36
Celera1147,947,597 - 47,948,456RGD
HuRef1147,505,263 - 47,506,122UniSTS
STS-Z40067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,014,110 - 88,014,172UniSTSGRCh37
GRCh371147,818,757 - 47,819,734UniSTSGRCh37
Build 36588,049,866 - 88,049,928RGDNCBI36
Celera1147,966,593 - 47,967,570UniSTS
Celera583,907,075 - 83,907,137RGD
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map5q14UniSTS
HuRef583,219,041 - 83,219,103UniSTS
GeneMap99-GB4 RH Map5402.95UniSTS


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 2438 2788 2252 4972 1726 2351 6 624 1951 465 2269 7303 6470 53 3733 1 852 1743 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001318399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC021443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC023232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI559779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN420734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D83781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000378460   ⟹   ENSP00000367721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,778,118 - 47,848,350 (-)Ensembl
Ensembl Acc Id: ENST00000526569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,803,437 - 47,806,515 (-)Ensembl
Ensembl Acc Id: ENST00000526870   ⟹   ENSP00000431495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,839,501 - 47,848,555 (-)Ensembl
Ensembl Acc Id: ENST00000527126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,821,376 - 47,822,167 (-)Ensembl
Ensembl Acc Id: ENST00000527750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,804,354 - 47,806,240 (-)Ensembl
Ensembl Acc Id: ENST00000528071   ⟹   ENSP00000432367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,792,012 - 47,848,334 (-)Ensembl
Ensembl Acc Id: ENST00000528501   ⟹   ENSP00000433964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,808,483 - 47,848,330 (-)Ensembl
Ensembl Acc Id: ENST00000529863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,839,946 - 47,848,334 (-)Ensembl
Ensembl Acc Id: ENST00000530326   ⟹   ENSP00000433590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,778,237 - 47,848,313 (-)Ensembl
Ensembl Acc Id: ENST00000531016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,815,091 - 47,816,020 (-)Ensembl
Ensembl Acc Id: ENST00000532773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,784,664 - 47,787,079 (-)Ensembl
Ensembl Acc Id: ENST00000694866   ⟹   ENSP00000511549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,778,087 - 47,848,467 (-)Ensembl
Ensembl Acc Id: ENST00000694867   ⟹   ENSP00000511550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,839,501 - 47,848,350 (-)Ensembl
RefSeq Acc Id: NM_001318399   ⟹   NP_001305328
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,839,501 - 47,848,544 (-)NCBI
CHM1_11147,860,358 - 47,869,400 (-)NCBI
T2T-CHM13v2.01148,004,438 - 48,013,487 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015231   ⟹   NP_056046
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,778,118 - 47,848,350 (-)NCBI
GRCh371147,799,670 - 47,870,057 (-)RGD
Build 361147,756,246 - 47,826,633 (-)NCBI Archive
Celera1147,947,516 - 48,018,167 (-)RGD
HuRef1147,505,182 - 47,575,824 (-)ENTREZGENE
CHM1_11147,798,883 - 47,869,400 (-)NCBI
T2T-CHM13v2.01147,943,085 - 48,013,293 (-)NCBI
Sequence:
RefSeq Acc Id: NR_134636
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,778,118 - 47,848,350 (-)NCBI
CHM1_11147,798,883 - 47,869,400 (-)NCBI
T2T-CHM13v2.01147,943,085 - 48,013,293 (-)NCBI
Sequence:
RefSeq Acc Id: NP_056046   ⟸   NM_015231
- Peptide Label: isoform 1
- UniProtKB: Q9H660 (UniProtKB/Swiss-Prot),   Q96GB3 (UniProtKB/Swiss-Prot),   Q7Z5X6 (UniProtKB/Swiss-Prot),   Q12769 (UniProtKB/Swiss-Prot),   Q08AD3 (UniProtKB/Swiss-Prot),   B4E2J9 (UniProtKB/Swiss-Prot),   B4DYE8 (UniProtKB/Swiss-Prot),   A0A8V8NBT1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305328   ⟸   NM_001318399
- Peptide Label: isoform 2
- UniProtKB: A0A8Q3WK58 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000433590   ⟸   ENST00000530326
Ensembl Acc Id: ENSP00000367721   ⟸   ENST00000378460
Ensembl Acc Id: ENSP00000431495   ⟸   ENST00000526870
Ensembl Acc Id: ENSP00000432367   ⟸   ENST00000528071
Ensembl Acc Id: ENSP00000433964   ⟸   ENST00000528501
Ensembl Acc Id: ENSP00000511550   ⟸   ENST00000694867
Ensembl Acc Id: ENSP00000511549   ⟸   ENST00000694866

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q12769-F1-model_v2 AlphaFold Q12769 1-1436 view protein structure

Promoters
RGD ID:6788747
Promoter ID:HG_KWN:12826
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:ENST00000263764,   NM_015231,   UC001NGN.1,   UC009YLW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361147,826,231 - 47,826,731 (-)MPROMDB
RGD ID:7220283
Promoter ID:EPDNEW_H15887
Type:initiation region
Name:NUP160_1
Description:nucleoporin 160
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
GRCh381147,848,549 - 47,848,609EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18017 AgrOrtholog
COSMIC NUP160 COSMIC
Ensembl Genes ENSG00000030066 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000378460 ENTREZGENE
  ENST00000378460.7 UniProtKB/TrEMBL
  ENST00000526870 ENTREZGENE
  ENST00000526870.1 UniProtKB/Swiss-Prot
  ENST00000528071.5 UniProtKB/TrEMBL
  ENST00000528501.5 UniProtKB/TrEMBL
  ENST00000530326.5 UniProtKB/TrEMBL
  ENST00000694866.1 UniProtKB/Swiss-Prot
  ENST00000694867.1 UniProtKB/TrEMBL
GTEx ENSG00000030066 GTEx
HGNC ID HGNC:18017 ENTREZGENE
Human Proteome Map NUP160 Human Proteome Map
InterPro Nucleoporin_Nup160 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23279 UniProtKB/Swiss-Prot
NCBI Gene 23279 ENTREZGENE
OMIM 607614 OMIM
PANTHER NUCLEAR PORE COMPLEX PROTEIN NUP160 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21286 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Nup160 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31850 PharmGKB
UniProt A0A8Q3WK58 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8NBT1 ENTREZGENE, UniProtKB/TrEMBL
  B4DYE8 ENTREZGENE
  B4E2J9 ENTREZGENE
  E9PR16_HUMAN UniProtKB/TrEMBL
  E9PSI3_HUMAN UniProtKB/TrEMBL
  G3V198_HUMAN UniProtKB/TrEMBL
  NU160_HUMAN UniProtKB/Swiss-Prot
  Q08AD3 ENTREZGENE
  Q12769 ENTREZGENE
  Q7Z5X6 ENTREZGENE
  Q96GB3 ENTREZGENE
  Q9H660 ENTREZGENE
UniProt Secondary B4DYE8 UniProtKB/Swiss-Prot
  B4E2J9 UniProtKB/Swiss-Prot
  Q08AD3 UniProtKB/Swiss-Prot
  Q7Z5X6 UniProtKB/Swiss-Prot
  Q96GB3 UniProtKB/Swiss-Prot
  Q9H660 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 NUP160  nucleoporin 160  NUP160  nucleoporin 160kDa  Symbol and/or name change 5135510 APPROVED