NDST1 (N-deacetylase and N-sulfotransferase 1) - Rat Genome Database

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Gene: NDST1 (N-deacetylase and N-sulfotransferase 1) Homo sapiens
Analyze
Symbol: NDST1
Name: N-deacetylase and N-sulfotransferase 1
RGD ID: 733822
HGNC Page HGNC:7680
Description: Enables [heparan sulfate]-glucosamine N-sulfotransferase activity and heparan sulfate N-deacetylase activity. Predicted to be involved in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process. Predicted to act upstream of or within several processes, including circulatory system development; embryonic cranial skeleton morphogenesis; and positive regulation of signal transduction. Located in trans-Golgi network membrane. Implicated in autosomal recessive intellectual developmental disorder 46.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: [Heparan sulfate]-glucosamine N-sulfotransferase 1; bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1; glucosaminyl N-deacetylase/N-sulfotransferase 1; heparan sulfate-N-deacetylase/N-sulfotransferase; heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1; HSNST 1; HSST; MRT46; N-Deacetylase-N-sulfotransferase 1; N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1; N-deacetylase/N-sulfotransferase 1; N-heparan sulfate sulfotransferase 1; N-HSST 1; NDST-1; NST1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385150,497,779 - 150,558,211 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5150,485,818 - 150,558,211 (+)EnsemblGRCh38hg38GRCh38
GRCh375149,877,341 - 149,937,773 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365149,880,623 - 149,917,966 (+)NCBINCBI36Build 36hg18NCBI36
Build 345149,880,622 - 149,917,966NCBI
Celera5145,968,756 - 146,018,856 (+)NCBICelera
Cytogenetic Map5q33.1NCBI
HuRef5145,034,217 - 145,084,242 (+)NCBIHuRef
CHM1_15149,320,110 - 149,370,203 (+)NCBICHM1_1
T2T-CHM13v2.05151,034,321 - 151,094,757 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (ISO)
ammonium chloride  (ISO)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bromobenzene  (ISO)
bucladesine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cyclosporin A  (EXP)
cyproconazole  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
enalapril  (ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
flavonoids  (ISO)
folic acid  (EXP)
fulvestrant  (EXP)
gentamycin  (ISO)
heparan sulfate  (ISO)
losartan  (ISO)
medroxyprogesterone acetate  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
nitrofen  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
rotenone  (ISO)
sodium arsenite  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7601448   PMID:9230113   PMID:9744796   PMID:9915799   PMID:10196134   PMID:10758005   PMID:11792394   PMID:12477932   PMID:12590599   PMID:12634318   PMID:14966466   PMID:15489334  
PMID:18337501   PMID:19336475   PMID:19710461   PMID:19851296   PMID:19915053   PMID:20129923   PMID:20198315   PMID:21873635   PMID:21947487   PMID:22632162   PMID:22939629   PMID:23884416  
PMID:25125150   PMID:25156775   PMID:26109066   PMID:26186194   PMID:26496610   PMID:28211985   PMID:28404855   PMID:28514442   PMID:29507755   PMID:30232004   PMID:31364126   PMID:31741433  
PMID:32838362   PMID:32878022   PMID:33961781   PMID:35137078   PMID:35337019   PMID:35696571   PMID:35748872   PMID:35914814  


Genomics

Comparative Map Data
NDST1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385150,497,779 - 150,558,211 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5150,485,818 - 150,558,211 (+)EnsemblGRCh38hg38GRCh38
GRCh375149,877,341 - 149,937,773 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365149,880,623 - 149,917,966 (+)NCBINCBI36Build 36hg18NCBI36
Build 345149,880,622 - 149,917,966NCBI
Celera5145,968,756 - 146,018,856 (+)NCBICelera
Cytogenetic Map5q33.1NCBI
HuRef5145,034,217 - 145,084,242 (+)NCBIHuRef
CHM1_15149,320,110 - 149,370,203 (+)NCBICHM1_1
T2T-CHM13v2.05151,034,321 - 151,094,757 (+)NCBIT2T-CHM13v2.0
Ndst1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391860,817,566 - 60,907,465 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1860,817,566 - 60,881,722 (-)EnsemblGRCm39 Ensembl
GRCm381860,684,494 - 60,749,035 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1860,684,494 - 60,748,650 (-)EnsemblGRCm38mm10GRCm38
MGSCv371860,845,617 - 60,873,043 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361860,811,332 - 60,838,758 (-)NCBIMGSCv36mm8
Celera1861,969,670 - 61,997,089 (-)NCBICelera
Cytogenetic Map18E1NCBI
cM Map1834.38NCBI
Ndst1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81856,407,308 - 56,470,007 (-)NCBIGRCr8
mRatBN7.21854,136,887 - 54,199,545 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1854,140,779 - 54,178,191 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1856,229,512 - 56,266,941 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01856,944,111 - 56,981,540 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01854,764,697 - 54,802,107 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01855,951,497 - 56,014,107 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1855,955,389 - 55,992,885 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01855,189,496 - 55,226,905 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41856,638,891 - 56,677,831 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11856,711,122 - 56,750,063 (-)NCBI
Celera1852,295,217 - 52,332,793 (-)NCBICelera
Cytogenetic Map18q12.1NCBI
Ndst1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554153,999,473 - 4,060,998 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554154,017,142 - 4,078,927 (-)NCBIChiLan1.0ChiLan1.0
NDST1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24145,713,778 - 145,787,281 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15143,854,440 - 143,926,827 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05145,910,993 - 145,982,933 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15151,918,667 - 151,986,668 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5151,936,357 - 151,986,668 (+)Ensemblpanpan1.1panPan2
NDST1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1458,580,231 - 58,639,750 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl458,532,148 - 58,640,191 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha458,347,429 - 58,405,535 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0459,061,802 - 59,119,959 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl459,061,147 - 59,090,976 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1458,850,372 - 58,908,502 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0458,966,408 - 59,022,929 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0459,495,800 - 59,553,938 (-)NCBIUU_Cfam_GSD_1.0
Ndst1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213142,839,583 - 142,921,891 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365044,413,549 - 4,454,109 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365044,413,549 - 4,495,933 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NDST1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2151,489,521 - 151,522,749 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12151,433,925 - 151,525,909 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
NDST1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12353,109,806 - 53,159,880 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2353,123,222 - 53,155,016 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603424,554,718 - 24,627,309 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ndst1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247749,758,809 - 9,821,309 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247749,758,459 - 9,821,309 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NDST1
180 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001543.5(NDST1):c.39C>G (p.His13Gln) single nucleotide variant Intellectual disability, autosomal recessive 46 [RCV000678273]|not provided [RCV000519525] Chr5:150521293 [GRCh38]
Chr5:149900855 [GRCh37]
Chr5:5q33.1		 uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3		 pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2		 pathogenic
NM_001543.4(NDST1):c.507C>T (p.Phe169=) single nucleotide variant Malignant melanoma [RCV000066777] Chr5:150521761 [GRCh38]
Chr5:149901323 [GRCh37]
Chr5:149881516 [NCBI36]
Chr5:5q33.1		 not provided
NM_001543.4(NDST1):c.2580C>T (p.Ser860=) single nucleotide variant Malignant melanoma [RCV000061177] Chr5:150553263 [GRCh38]
Chr5:149932825 [GRCh37]
Chr5:149913018 [NCBI36]
Chr5:5q33.1		 not provided
NM_001543.5(NDST1):c.2401A>T (p.Thr801Ser) single nucleotide variant Intellectual disability, autosomal recessive 46 [RCV000660550] Chr5:150549762 [GRCh38]
Chr5:149929324 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1360C>T (p.Arg454Cys) single nucleotide variant Intellectual disability, autosomal recessive 46 [RCV000660596] Chr5:150535808 [GRCh38]
Chr5:149915370 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2126G>A (p.Arg709Gln) single nucleotide variant Intellectual disability, autosomal recessive 46 [RCV000148925] Chr5:150545467 [GRCh38]
Chr5:149925029 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_001543.5(NDST1):c.1926G>T (p.Glu642Asp) single nucleotide variant Intellectual disability, autosomal recessive 46 [RCV000148926] Chr5:150542927 [GRCh38]
Chr5:149922489 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu) single nucleotide variant Intellectual disability, autosomal recessive 46 [RCV000148927] Chr5:150542919 [GRCh38]
Chr5:149922481 [GRCh37]
Chr5:5q33.1		 pathogenic|likely pathogenic|not provided
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) single nucleotide variant Global developmental delay [RCV002463649]|Intellectual disability, autosomal recessive 46 [RCV000148928]|See cases [RCV003128390]|not provided [RCV002279948] Chr5:150541651 [GRCh38]
Chr5:149921213 [GRCh37]
Chr5:5q33.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
GRCh38/hg38 5q32-33.1(chr5:150356455-150688333)x3 copy number gain See cases [RCV000142762] Chr5:150356455..150688333 [GRCh38]
Chr5:149736018..150067895 [GRCh37]
Chr5:149716211..150048088 [NCBI36]
Chr5:5q32-33.1		 uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
NM_001543.5(NDST1):c.883G>A (p.Val295Met) single nucleotide variant Intellectual disability, autosomal recessive 46 [RCV001328850]|not provided [RCV000489709] Chr5:150528173 [GRCh38]
Chr5:149907735 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.340G>T (p.Glu114Ter) single nucleotide variant Intellectual disability, autosomal recessive 46 [RCV000490491] Chr5:150521594 [GRCh38]
Chr5:149901156 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1850C>T (p.Thr617Ile) single nucleotide variant not provided [RCV003239043] Chr5:150542851 [GRCh38]
Chr5:149922413 [GRCh37]
Chr5:5q33.1		 uncertain significance
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2		 pathogenic
NM_001543.5(NDST1):c.334C>T (p.Arg112Cys) single nucleotide variant Inborn genetic diseases [RCV000623829]|Intellectual disability, autosomal recessive 46 [RCV003492120]|not provided [RCV001860420] Chr5:150521588 [GRCh38]
Chr5:149901150 [GRCh37]
Chr5:5q33.1		 uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
GRCh37/hg19 5q33.1(chr5:149900698-149980709)x3 copy number gain See cases [RCV000446094] Chr5:149900698..149980709 [GRCh37]
Chr5:5q33.1		 likely benign
GRCh37/hg19 5q33.1(chr5:149900698-149997633)x3 copy number gain See cases [RCV000447319] Chr5:149900698..149997633 [GRCh37]
Chr5:5q33.1		 likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
NM_001543.5(NDST1):c.144G>A (p.Ser48=) single nucleotide variant NDST1-related condition [RCV003935296]|not specified [RCV000501191] Chr5:150521398 [GRCh38]
Chr5:149900960 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1749+8dup duplication Intellectual disability [RCV001252597]|NDST1-related condition [RCV003915385]|not provided [RCV000879561]|not specified [RCV000503414] Chr5:150540266..150540267 [GRCh38]
Chr5:149919828..149919829 [GRCh37]
Chr5:5q33.1		 benign|likely benign|uncertain significance
NM_001543.5(NDST1):c.2317-4C>G single nucleotide variant not provided [RCV000897434]|not specified [RCV000503473] Chr5:150549674 [GRCh38]
Chr5:149929236 [GRCh37]
Chr5:5q33.1		 benign|uncertain significance
NM_001543.5(NDST1):c.101C>G (p.Ser34Trp) single nucleotide variant not specified [RCV000503683] Chr5:150521355 [GRCh38]
Chr5:149900917 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1696T>C (p.Leu566=) single nucleotide variant not provided [RCV003424060]|not specified [RCV000501676] Chr5:150540211 [GRCh38]
Chr5:149919773 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.2146-7C>T single nucleotide variant not specified [RCV000501712] Chr5:150548211 [GRCh38]
Chr5:149927773 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.143C>G (p.Ser48Trp) single nucleotide variant not specified [RCV000503937] Chr5:150521397 [GRCh38]
Chr5:149900959 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.600C>T (p.Ile200=) single nucleotide variant not provided [RCV000915830]|not specified [RCV000504130] Chr5:150527890 [GRCh38]
Chr5:149907452 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001543.5(NDST1):c.1137G>A (p.Ser379=) single nucleotide variant not provided [RCV002524231]|not specified [RCV000499669] Chr5:150534907 [GRCh38]
Chr5:149914469 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.730C>T (p.Arg244Cys) single nucleotide variant Inborn genetic diseases [RCV003258834]|Intellectual disability, autosomal recessive 46 [RCV001334930]|not specified [RCV000502036] Chr5:150528020 [GRCh38]
Chr5:149907582 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1458C>T (p.Cys486=) single nucleotide variant NDST1-related condition [RCV003962390]|not provided [RCV000901938]|not specified [RCV000499871] Chr5:150539248 [GRCh38]
Chr5:149918810 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001543.5(NDST1):c.1800G>A (p.Thr600=) single nucleotide variant not provided [RCV000977877]|not specified [RCV000500012] Chr5:150541620 [GRCh38]
Chr5:149921182 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.2558G>A (p.Arg853Gln) single nucleotide variant Inborn genetic diseases [RCV003243157]|not specified [RCV000500065] Chr5:150553241 [GRCh38]
Chr5:149932803 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.239G>A (p.Arg80His) single nucleotide variant Inborn genetic diseases [RCV000622785]|Intellectual disability [RCV001252593]|Intellectual disability, autosomal recessive 46 [RCV000678274]|NDST1-related condition [RCV003915384]|not provided [RCV001764489]|not specified [RCV000502374] Chr5:150521493 [GRCh38]
Chr5:149901055 [GRCh37]
Chr5:5q33.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001543.5(NDST1):c.73A>G (p.Ile25Val) single nucleotide variant not provided [RCV000901600]|not specified [RCV000502179] Chr5:150521327 [GRCh38]
Chr5:149900889 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.2589G>A (p.Leu863=) single nucleotide variant not provided [RCV000883770]|not specified [RCV000502470] Chr5:150553272 [GRCh38]
Chr5:149932834 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001543.5(NDST1):c.323G>A (p.Arg108His) single nucleotide variant not specified [RCV000500299] Chr5:150521577 [GRCh38]
Chr5:149901139 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.629C>T (p.Thr210Met) single nucleotide variant not specified [RCV000500740] Chr5:150527919 [GRCh38]
Chr5:149907481 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1314C>T (p.Pro438=) single nucleotide variant not provided [RCV000920344]|not specified [RCV000500785] Chr5:150535762 [GRCh38]
Chr5:149915324 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.817C>T (p.His273Tyr) single nucleotide variant not specified [RCV000503071] Chr5:150528107 [GRCh38]
Chr5:149907669 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1332C>T (p.Tyr444=) single nucleotide variant not specified [RCV000503207] Chr5:150535780 [GRCh38]
Chr5:149915342 [GRCh37]
Chr5:5q33.1		 likely benign
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_001543.5(NDST1):c.1970+10C>T single nucleotide variant not provided [RCV000514842] Chr5:150542981 [GRCh38]
Chr5:149922543 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001543.5(NDST1):c.1690G>C (p.Val564Leu) single nucleotide variant Inborn genetic diseases [RCV002524969]|Intellectual disability, autosomal recessive 46 [RCV000765824]|not provided [RCV000513056]|not specified [RCV001821430] Chr5:150540205 [GRCh38]
Chr5:149919767 [GRCh37]
Chr5:5q33.1		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_001543.5(NDST1):c.2271C>T (p.Tyr757=) single nucleotide variant not provided [RCV000895709]|not specified [RCV001818706] Chr5:150548343 [GRCh38]
Chr5:149927905 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.-15G>T single nucleotide variant not provided [RCV001608808] Chr5:150521240 [GRCh38]
Chr5:149900802 [GRCh37]
Chr5:5q33.1		 benign
NM_001543.5(NDST1):c.2118C>T (p.Pro706=) single nucleotide variant not provided [RCV000893597] Chr5:150545459 [GRCh38]
Chr5:149925021 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.168C>T (p.Cys56=) single nucleotide variant not provided [RCV000897002] Chr5:150521422 [GRCh38]
Chr5:149900984 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.48G>A (p.Pro16=) single nucleotide variant not provided [RCV000895235] Chr5:150521302 [GRCh38]
Chr5:149900864 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.2102C>G (p.Thr701Ser) single nucleotide variant not provided [RCV000884557] Chr5:150545443 [GRCh38]
Chr5:149925005 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1530C>T (p.Asn510=) single nucleotide variant not provided [RCV000928893] Chr5:150539320 [GRCh38]
Chr5:149918882 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.444C>T (p.Asp148=) single nucleotide variant not provided [RCV000941910] Chr5:150521698 [GRCh38]
Chr5:149901260 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1584G>A (p.Thr528=) single nucleotide variant not provided [RCV000926315] Chr5:150540099 [GRCh38]
Chr5:149919661 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.822C>T (p.Asp274=) single nucleotide variant not provided [RCV000886134] Chr5:150528112 [GRCh38]
Chr5:149907674 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.870C>T (p.His290=) single nucleotide variant not provided [RCV000920796] Chr5:150528160 [GRCh38]
Chr5:149907722 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.777T>C (p.His259=) single nucleotide variant NDST1-related condition [RCV003922894]|not provided [RCV000897648] Chr5:150528067 [GRCh38]
Chr5:149907629 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001543.5(NDST1):c.2421C>T (p.Thr807=) single nucleotide variant not provided [RCV000961659] Chr5:150549782 [GRCh38]
Chr5:149929344 [GRCh37]
Chr5:5q33.1		 benign
NM_001543.5(NDST1):c.1764C>T (p.Asp588=) single nucleotide variant not provided [RCV000922951] Chr5:150541584 [GRCh38]
Chr5:149921146 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1392G>A (p.Leu464=) single nucleotide variant not provided [RCV000879082] Chr5:150535840 [GRCh38]
Chr5:149915402 [GRCh37]
Chr5:5q33.1		 benign
NM_001543.5(NDST1):c.2571C>T (p.Ile857=) single nucleotide variant not provided [RCV000902171] Chr5:150553254 [GRCh38]
Chr5:149932816 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.303G>A (p.Val101=) single nucleotide variant NDST1-related condition [RCV003933126]|not provided [RCV000924748] Chr5:150521557 [GRCh38]
Chr5:149901119 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.2577C>T (p.Leu859=) single nucleotide variant not provided [RCV000920810]|not specified [RCV001818871] Chr5:150553260 [GRCh38]
Chr5:149932822 [GRCh37]
Chr5:5q33.1		 benign
NM_001543.5(NDST1):c.624C>T (p.Tyr208=) single nucleotide variant NDST1-related condition [RCV003968338]|not provided [RCV000907104] Chr5:150527914 [GRCh38]
Chr5:149907476 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.834C>T (p.Arg278=) single nucleotide variant not provided [RCV000917472] Chr5:150528124 [GRCh38]
Chr5:149907686 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.2382G>A (p.Lys794=) single nucleotide variant not provided [RCV000931646] Chr5:150549743 [GRCh38]
Chr5:149929305 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1683G>A (p.Leu561=) single nucleotide variant not provided [RCV000905257] Chr5:150540198 [GRCh38]
Chr5:149919760 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.966C>T (p.Phe322=) single nucleotide variant NDST1-related condition [RCV003920705]|not provided [RCV000888103] Chr5:150528256 [GRCh38]
Chr5:149907818 [GRCh37]
Chr5:5q33.1		 benign
NM_001543.5(NDST1):c.276C>T (p.Leu92=) single nucleotide variant not provided [RCV000894165] Chr5:150521530 [GRCh38]
Chr5:149901092 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.760G>A (p.Ala254Thr) single nucleotide variant not provided [RCV000897647] Chr5:150528050 [GRCh38]
Chr5:149907612 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.2643C>T (p.Thr881=) single nucleotide variant not provided [RCV000917287] Chr5:150553326 [GRCh38]
Chr5:149932888 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1749+8G>A single nucleotide variant NDST1-related condition [RCV003950835]|not provided [RCV000916523] Chr5:150540272 [GRCh38]
Chr5:149919834 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1548C>T (p.Leu516=) single nucleotide variant not provided [RCV000962129] Chr5:150539338 [GRCh38]
Chr5:149918900 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1438-7del deletion not provided [RCV000954916] Chr5:150539221 [GRCh38]
Chr5:149918783 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1443C>T (p.Leu481=) single nucleotide variant not provided [RCV000920809] Chr5:150539233 [GRCh38]
Chr5:149918795 [GRCh37]
Chr5:5q33.1		 benign
NM_001543.5(NDST1):c.927A>G (p.Pro309=) single nucleotide variant Intellectual disability, autosomal recessive 46 [RCV002505271]|not provided [RCV000890531] Chr5:150528217 [GRCh38]
Chr5:149907779 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001543.5(NDST1):c.540G>A (p.Ala180=) single nucleotide variant not provided [RCV000889966] Chr5:150527830 [GRCh38]
Chr5:149907392 [GRCh37]
Chr5:5q33.1		 benign
NM_001543.5(NDST1):c.1662G>C (p.Thr554=) single nucleotide variant Intellectual disability, autosomal recessive 46 [RCV001779309]|not provided [RCV001670628] Chr5:150540177 [GRCh38]
Chr5:149919739 [GRCh37]
Chr5:5q33.1		 benign
NM_001543.5(NDST1):c.40G>A (p.Val14Met) single nucleotide variant Intellectual disability [RCV001252594] Chr5:150521294 [GRCh38]
Chr5:149900856 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.2515G>A (p.Glu839Lys) single nucleotide variant Inborn genetic diseases [RCV002570521]|Intellectual disability [RCV001252595] Chr5:150551841 [GRCh38]
Chr5:149931403 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001543.5(NDST1):c.176C>G (p.Pro59Arg) single nucleotide variant Intellectual disability [RCV001256142] Chr5:150521430 [GRCh38]
Chr5:149900992 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1438-7T>G single nucleotide variant Intellectual disability [RCV001252596] Chr5:150539221 [GRCh38]
Chr5:149918783 [GRCh37]
Chr5:5q33.1		 likely benign
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) copy number gain Hunter-McAlpine craniosynostosis [RCV002280612] Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3		 pathogenic
NM_001543.5(NDST1):c.249G>A (p.Pro83=) single nucleotide variant not provided [RCV001310534] Chr5:150521503 [GRCh38]
Chr5:149901065 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.2468G>C (p.Gly823Ala) single nucleotide variant Intellectual disability, autosomal recessive 46 [RCV001334929] Chr5:150551794 [GRCh38]
Chr5:149931356 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.389G>A (p.Arg130His) single nucleotide variant Intellectual disability, autosomal recessive 46 [RCV001328849] Chr5:150521643 [GRCh38]
Chr5:149901205 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.388C>T (p.Arg130Cys) single nucleotide variant Intellectual disability, autosomal recessive 46 [RCV001328848] Chr5:150521642 [GRCh38]
Chr5:149901204 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.161C>G (p.Pro54Arg) single nucleotide variant not provided [RCV002251676] Chr5:150521415 [GRCh38]
Chr5:149900977 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.188C>T (p.Ala63Val) single nucleotide variant not provided [RCV001763440] Chr5:150521442 [GRCh38]
Chr5:149901004 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.169G>A (p.Gly57Arg) single nucleotide variant not provided [RCV001771247]|not specified [RCV001821995] Chr5:150521423 [GRCh38]
Chr5:149900985 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2405T>C (p.Ile802Thr) single nucleotide variant not provided [RCV001771249] Chr5:150549766 [GRCh38]
Chr5:149929328 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1097-28T>C single nucleotide variant Intellectual disability, autosomal recessive 46 [RCV001779957] Chr5:150534839 [GRCh38]
Chr5:149914401 [GRCh37]
Chr5:5q33.1		 benign
NM_001543.5(NDST1):c.1726GAG[1] (p.Glu577del) microsatellite not provided [RCV001771075] Chr5:150540241..150540243 [GRCh38]
Chr5:149919803..149919805 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1846+23G>C single nucleotide variant Intellectual disability, autosomal recessive 46 [RCV001779958] Chr5:150541689 [GRCh38]
Chr5:149921251 [GRCh37]
Chr5:5q33.1		 benign
NM_001543.5(NDST1):c.1113C>T (p.Asp371=) single nucleotide variant not specified [RCV001817255] Chr5:150534883 [GRCh38]
Chr5:149914445 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.681T>G (p.Val227=) single nucleotide variant Intellectual disability, autosomal recessive 46 [RCV001779340]|not provided [RCV001762823] Chr5:150527971 [GRCh38]
Chr5:149907533 [GRCh37]
Chr5:5q33.1		 benign
NM_001543.5(NDST1):c.750A>G (p.Pro250=) single nucleotide variant Intellectual disability, autosomal recessive 46 [RCV001779341]|not provided [RCV001762824] Chr5:150528040 [GRCh38]
Chr5:149907602 [GRCh37]
Chr5:5q33.1		 benign
NM_001543.5(NDST1):c.1971-10C>G single nucleotide variant not specified [RCV001819260] Chr5:150545302 [GRCh38]
Chr5:149924864 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1661C>T (p.Thr554Met) single nucleotide variant not specified [RCV001819303] Chr5:150540176 [GRCh38]
Chr5:149919738 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2095G>C (p.Val699Leu) single nucleotide variant not specified [RCV001819674] Chr5:150545436 [GRCh38]
Chr5:149924998 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.882C>T (p.Phe294=) single nucleotide variant not specified [RCV001820241] Chr5:150528172 [GRCh38]
Chr5:149907734 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.828C>A (p.Ile276=) single nucleotide variant not specified [RCV001820265] Chr5:150528118 [GRCh38]
Chr5:149907680 [GRCh37]
Chr5:5q33.1		 uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
NM_001543.5(NDST1):c.1432A>G (p.Ile478Val) single nucleotide variant not provided [RCV001924601] Chr5:150535880 [GRCh38]
Chr5:149915442 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1690G>A (p.Val564Met) single nucleotide variant not provided [RCV001934908] Chr5:150540205 [GRCh38]
Chr5:149919767 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1057A>C (p.Thr353Pro) single nucleotide variant not provided [RCV001900914] Chr5:150532993 [GRCh38]
Chr5:149912555 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1736A>G (p.Asp579Gly) single nucleotide variant Inborn genetic diseases [RCV003348681]|not provided [RCV001989715] Chr5:150540251 [GRCh38]
Chr5:149919813 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2317-17C>T single nucleotide variant not provided [RCV002088522] Chr5:150549661 [GRCh38]
Chr5:149929223 [GRCh37]
Chr5:5q33.1		 benign
NM_001543.5(NDST1):c.514-15C>G single nucleotide variant not provided [RCV002090933] Chr5:150527789 [GRCh38]
Chr5:149907351 [GRCh37]
Chr5:5q33.1		 benign
NM_001543.5(NDST1):c.1252-16G>T single nucleotide variant not provided [RCV002126130] Chr5:150535684 [GRCh38]
Chr5:149915246 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1029C>T (p.Asn343=) single nucleotide variant NDST1-related condition [RCV003978619]|not provided [RCV002110967] Chr5:150532965 [GRCh38]
Chr5:149912527 [GRCh37]
Chr5:5q33.1		 benign
NM_001543.5(NDST1):c.765C>T (p.Asp255=) single nucleotide variant not provided [RCV002093113] Chr5:150528055 [GRCh38]
Chr5:149907617 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1039G>A (p.Ala347Thr) single nucleotide variant Inborn genetic diseases [RCV002562268]|not provided [RCV002194694] Chr5:150532975 [GRCh38]
Chr5:149912537 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1251+11T>C single nucleotide variant not provided [RCV002212496] Chr5:150535032 [GRCh38]
Chr5:149914594 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.891C>T (p.Ala297=) single nucleotide variant not provided [RCV002212839] Chr5:150528181 [GRCh38]
Chr5:149907743 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1096+20C>T single nucleotide variant not provided [RCV002117855] Chr5:150533052 [GRCh38]
Chr5:149912614 [GRCh37]
Chr5:5q33.1		 benign
NM_001543.5(NDST1):c.789C>T (p.His263=) single nucleotide variant not provided [RCV002118054] Chr5:150528079 [GRCh38]
Chr5:149907641 [GRCh37]
Chr5:5q33.1		 benign
NM_001543.5(NDST1):c.1749+7G>A single nucleotide variant not provided [RCV002082580] Chr5:150540271 [GRCh38]
Chr5:149919833 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.156C>T (p.Pro52=) single nucleotide variant not provided [RCV002180015] Chr5:150521410 [GRCh38]
Chr5:149900972 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.2573A>T (p.Glu858Val) single nucleotide variant Inborn genetic diseases [RCV003253359] Chr5:150553256 [GRCh38]
Chr5:149932818 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2060C>T (p.Pro687Leu) single nucleotide variant not provided [RCV002251657] Chr5:150545401 [GRCh38]
Chr5:149924963 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1951T>C (p.Tyr651His) single nucleotide variant not provided [RCV003129309] Chr5:150542952 [GRCh38]
Chr5:149922514 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.227C>T (p.Ala76Val) single nucleotide variant not provided [RCV002300973] Chr5:150521481 [GRCh38]
Chr5:149901043 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.23G>A (p.Arg8Gln) single nucleotide variant not provided [RCV002300945] Chr5:150521277 [GRCh38]
Chr5:149900839 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.348G>A (p.Ala116=) single nucleotide variant not provided [RCV002995189] Chr5:150521602 [GRCh38]
Chr5:149901164 [GRCh37]
Chr5:5q33.1		 benign
NM_001543.5(NDST1):c.2207C>T (p.Ala736Val) single nucleotide variant Inborn genetic diseases [RCV002992010] Chr5:150548279 [GRCh38]
Chr5:149927841 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.27G>C (p.Arg9Ser) single nucleotide variant Inborn genetic diseases [RCV002880172] Chr5:150521281 [GRCh38]
Chr5:149900843 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2534G>A (p.Arg845Gln) single nucleotide variant Inborn genetic diseases [RCV002882588] Chr5:150553217 [GRCh38]
Chr5:149932779 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2010C>T (p.Ser670=) single nucleotide variant not provided [RCV003034597] Chr5:150545351 [GRCh38]
Chr5:149924913 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1114G>T (p.Ala372Ser) single nucleotide variant Inborn genetic diseases [RCV002992009] Chr5:150534884 [GRCh38]
Chr5:149914446 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1252-4C>G single nucleotide variant Inborn genetic diseases [RCV002794408] Chr5:150535696 [GRCh38]
Chr5:149915258 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1427A>G (p.Asn476Ser) single nucleotide variant not provided [RCV002593338] Chr5:150535875 [GRCh38]
Chr5:149915437 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.914G>A (p.Arg305His) single nucleotide variant Inborn genetic diseases [RCV002785597]|not provided [RCV002785596] Chr5:150528204 [GRCh38]
Chr5:149907766 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1438-6C>T single nucleotide variant Inborn genetic diseases [RCV002798642] Chr5:150539222 [GRCh38]
Chr5:149918784 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.765C>A (p.Asp255Glu) single nucleotide variant not provided [RCV003035652] Chr5:150528055 [GRCh38]
Chr5:149907617 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.383A>G (p.Lys128Arg) single nucleotide variant Inborn genetic diseases [RCV002925538] Chr5:150521637 [GRCh38]
Chr5:149901199 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.905C>T (p.Thr302Met) single nucleotide variant not provided [RCV002510058] Chr5:150528195 [GRCh38]
Chr5:149907757 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2623C>T (p.Arg875Ter) single nucleotide variant Inborn genetic diseases [RCV002759936]|Intellectual disability, autosomal recessive 46 [RCV003135274] Chr5:150553306 [GRCh38]
Chr5:149932868 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.769G>A (p.Gly257Ser) single nucleotide variant Inborn genetic diseases [RCV002848725] Chr5:150528059 [GRCh38]
Chr5:149907621 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1750-4T>G single nucleotide variant not provided [RCV002690609] Chr5:150541566 [GRCh38]
Chr5:149921128 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1750-20C>G single nucleotide variant not provided [RCV002621724] Chr5:150541550 [GRCh38]
Chr5:149921112 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1666C>G (p.Leu556Val) single nucleotide variant not provided [RCV003040125] Chr5:150540181 [GRCh38]
Chr5:149919743 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2411A>T (p.Tyr804Phe) single nucleotide variant Inborn genetic diseases [RCV002850800] Chr5:150549772 [GRCh38]
Chr5:149929334 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2285A>G (p.Glu762Gly) single nucleotide variant Inborn genetic diseases [RCV002827712] Chr5:150548357 [GRCh38]
Chr5:149927919 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1008+4T>A single nucleotide variant Inborn genetic diseases [RCV002954432]|not provided [RCV002954431] Chr5:150528302 [GRCh38]
Chr5:149907864 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1523T>A (p.Ile508Asn) single nucleotide variant Inborn genetic diseases [RCV002985168] Chr5:150539313 [GRCh38]
Chr5:149918875 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2332G>A (p.Gly778Ser) single nucleotide variant Inborn genetic diseases [RCV002826635] Chr5:150549693 [GRCh38]
Chr5:149929255 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2062C>T (p.Arg688Trp) single nucleotide variant not provided [RCV002711680] Chr5:150545403 [GRCh38]
Chr5:149924965 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2225C>T (p.Ser742Leu) single nucleotide variant not provided [RCV002982161] Chr5:150548297 [GRCh38]
Chr5:149927859 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.684C>T (p.Phe228=) single nucleotide variant not provided [RCV002701207] Chr5:150527974 [GRCh38]
Chr5:149907536 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1614G>A (p.Leu538=) single nucleotide variant not provided [RCV002766912] Chr5:150540129 [GRCh38]
Chr5:149919691 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.2426C>T (p.Ala809Val) single nucleotide variant not provided [RCV003062256] Chr5:150549787 [GRCh38]
Chr5:149929349 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.197G>A (p.Arg66His) single nucleotide variant not provided [RCV003091808] Chr5:150521451 [GRCh38]
Chr5:149901013 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1701G>A (p.Ala567=) single nucleotide variant not provided [RCV003048689] Chr5:150540216 [GRCh38]
Chr5:149919778 [GRCh37]
Chr5:5q33.1		 benign
NM_001543.5(NDST1):c.967G>A (p.Val323Met) single nucleotide variant not provided [RCV002675796] Chr5:150528257 [GRCh38]
Chr5:149907819 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.790G>A (p.Ala264Thr) single nucleotide variant Inborn genetic diseases [RCV002669076] Chr5:150528080 [GRCh38]
Chr5:149907642 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2057C>T (p.Ala686Val) single nucleotide variant Inborn genetic diseases [RCV002792464] Chr5:150545398 [GRCh38]
Chr5:149924960 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2283C>G (p.Ile761Met) single nucleotide variant Inborn genetic diseases [RCV002835409] Chr5:150548355 [GRCh38]
Chr5:149927917 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1768C>T (p.Arg590Cys) single nucleotide variant Inborn genetic diseases [RCV002898184] Chr5:150541588 [GRCh38]
Chr5:149921150 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2427-13C>T single nucleotide variant not provided [RCV002646206] Chr5:150551740 [GRCh38]
Chr5:149931302 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.395G>A (p.Arg132His) single nucleotide variant Inborn genetic diseases [RCV002897446] Chr5:150521649 [GRCh38]
Chr5:149901211 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1361G>A (p.Arg454His) single nucleotide variant Inborn genetic diseases [RCV002722616] Chr5:150535809 [GRCh38]
Chr5:149915371 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1749+16G>A single nucleotide variant not provided [RCV002604908] Chr5:150540280 [GRCh38]
Chr5:149919842 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.2371A>G (p.Met791Val) single nucleotide variant not provided [RCV002584813] Chr5:150549732 [GRCh38]
Chr5:149929294 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1623C>T (p.Tyr541=) single nucleotide variant not provided [RCV002606546] Chr5:150540138 [GRCh38]
Chr5:149919700 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.513+4C>A single nucleotide variant NDST1-related condition [RCV003973700]|not provided [RCV002607041] Chr5:150521771 [GRCh38]
Chr5:149901333 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1062C>T (p.Phe354=) single nucleotide variant not provided [RCV002633340] Chr5:150532998 [GRCh38]
Chr5:149912560 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.766G>A (p.Ala256Thr) single nucleotide variant Inborn genetic diseases [RCV003299392]|not provided [RCV003443194] Chr5:150528056 [GRCh38]
Chr5:149907618 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.179C>T (p.Pro60Leu) single nucleotide variant Inborn genetic diseases [RCV003196562] Chr5:150521433 [GRCh38]
Chr5:149900995 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2624G>A (p.Arg875Gln) single nucleotide variant Inborn genetic diseases [RCV003198679] Chr5:150553307 [GRCh38]
Chr5:149932869 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.47C>T (p.Pro16Leu) single nucleotide variant Inborn genetic diseases [RCV003179266] Chr5:150521301 [GRCh38]
Chr5:149900863 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.142T>C (p.Ser48Pro) single nucleotide variant Inborn genetic diseases [RCV003309917] Chr5:150521396 [GRCh38]
Chr5:149900958 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1402C>T (p.Arg468Cys) single nucleotide variant Inborn genetic diseases [RCV003353294] Chr5:150535850 [GRCh38]
Chr5:149915412 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1383C>T (p.Tyr461=) single nucleotide variant not provided [RCV003429906] Chr5:150535831 [GRCh38]
Chr5:149915393 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1632G>A (p.Lys544=) single nucleotide variant not provided [RCV003429907] Chr5:150540147 [GRCh38]
Chr5:149919709 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.347C>T (p.Ala116Val) single nucleotide variant not provided [RCV003441367] Chr5:150521601 [GRCh38]
Chr5:149901163 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.486C>T (p.Tyr162=) single nucleotide variant not provided [RCV003429905] Chr5:150521740 [GRCh38]
Chr5:149901302 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1500C>T (p.Gly500=) single nucleotide variant not provided [RCV003428675] Chr5:150539290 [GRCh38]
Chr5:149918852 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.2634C>T (p.Leu878=) single nucleotide variant not provided [RCV003428676] Chr5:150553317 [GRCh38]
Chr5:149932879 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.2272G>A (p.Ala758Thr) single nucleotide variant Intellectual disability, autosomal recessive 46 [RCV003493099] Chr5:150548344 [GRCh38]
Chr5:149927906 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2063G>A (p.Arg688Gln) single nucleotide variant Intellectual disability, autosomal recessive 46 [RCV003493098] Chr5:150545404 [GRCh38]
Chr5:149924966 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2484T>C (p.Cys828=) single nucleotide variant not provided [RCV003739075] Chr5:150551810 [GRCh38]
Chr5:149931372 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.2345G>A (p.Arg782His) single nucleotide variant not provided [RCV003831126] Chr5:150549706 [GRCh38]
Chr5:149929268 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2206G>A (p.Ala736Thr) single nucleotide variant not provided [RCV003739333] Chr5:150548278 [GRCh38]
Chr5:149927840 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1323G>A (p.Val441=) single nucleotide variant not provided [RCV003824644] Chr5:150535771 [GRCh38]
Chr5:149915333 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.2090C>T (p.Ala697Val) single nucleotide variant not provided [RCV003579702] Chr5:150545431 [GRCh38]
Chr5:149924993 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.213G>A (p.Lys71=) single nucleotide variant not provided [RCV003724889] Chr5:150521467 [GRCh38]
Chr5:149901029 [GRCh37]
Chr5:5q33.1		 benign
NM_001543.5(NDST1):c.1438-14C>T single nucleotide variant not provided [RCV003816056] Chr5:150539214 [GRCh38]
Chr5:149918776 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1488C>T (p.Asn496=) single nucleotide variant not provided [RCV003558858] Chr5:150539278 [GRCh38]
Chr5:149918840 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.281C>T (p.Ser94Leu) single nucleotide variant not provided [RCV003725260] Chr5:150521535 [GRCh38]
Chr5:149901097 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2287C>T (p.Arg763Cys) single nucleotide variant not provided [RCV003845105] Chr5:150548359 [GRCh38]
Chr5:149927921 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.1097-14del deletion not provided [RCV003819714] Chr5:150534852 [GRCh38]
Chr5:149914414 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1438-10C>G single nucleotide variant not provided [RCV003737965] Chr5:150539218 [GRCh38]
Chr5:149918780 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.2317-17C>G single nucleotide variant not provided [RCV003684705] Chr5:150549661 [GRCh38]
Chr5:149929223 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1327C>T (p.Leu443=) single nucleotide variant not provided [RCV003848647] Chr5:150535775 [GRCh38]
Chr5:149915337 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.1306G>A (p.Val436Met) single nucleotide variant NDST1-related condition [RCV003971651] Chr5:150535754 [GRCh38]
Chr5:149915316 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.2395A>G (p.Thr799Ala) single nucleotide variant NDST1-related condition [RCV003894742] Chr5:150549756 [GRCh38]
Chr5:149929318 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001543.5(NDST1):c.633A>G (p.Arg211=) single nucleotide variant NDST1-related condition [RCV003901514] Chr5:150527923 [GRCh38]
Chr5:149907485 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.-3A>C single nucleotide variant NDST1-related condition [RCV003899667] Chr5:150521252 [GRCh38]
Chr5:149900814 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001543.5(NDST1):c.985C>T (p.Arg329Cys) single nucleotide variant Intellectual disability, autosomal recessive 46 [RCV003988762] Chr5:150528275 [GRCh38]
Chr5:149907837 [GRCh37]
Chr5:5q33.1		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR191hsa-miR-191-5pOncomiRDBexternal_infoNANA21947487

Predicted Target Of
Summary Value
Count of predictions:5097
Count of miRNA genes:1259
Interacting mature miRNAs:1672
Transcripts:ENST00000261797, ENST00000518299, ENST00000518346, ENST00000519157, ENST00000521752, ENST00000522491, ENST00000523767, ENST00000524161
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
D5S636  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,896,516 - 149,896,659UniSTSGRCh37
Build 365149,876,709 - 149,876,852RGDNCBI36
Celera5145,977,598 - 145,977,743RGD
Cytogenetic Map5q31-q33UniSTS
Cytogenetic Map5q33.1UniSTS
HuRef5145,043,061 - 145,043,208UniSTS
Marshfield Genetic Map5153.17UniSTS
Marshfield Genetic Map5153.17RGD
Genethon Genetic Map5152.8UniSTS
deCODE Assembly Map5154.82UniSTS
A007E23  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,937,530 - 149,937,717UniSTSGRCh37
Build 365149,917,723 - 149,917,910RGDNCBI36
Celera5146,018,613 - 146,018,800RGD
Cytogenetic Map5q33.1UniSTS
HuRef5145,083,999 - 145,084,186UniSTS
GeneMap99-GB4 RH Map5583.96UniSTS
HSC25B122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,919,075 - 149,919,279UniSTSGRCh37
Build 365149,899,268 - 149,899,472RGDNCBI36
Celera5146,000,158 - 146,000,362RGD
Cytogenetic Map5q33.1UniSTS
HuRef5145,065,542 - 145,065,746UniSTS
GeneMap99-GB4 RH Map5579.1UniSTS
Whitehead-RH Map5497.6UniSTS
NCBI RH Map5891.6UniSTS
RH79124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,933,650 - 149,933,812UniSTSGRCh37
Build 365149,913,843 - 149,914,005RGDNCBI36
Celera5146,014,733 - 146,014,895RGD
Cytogenetic Map5q33.1UniSTS
HuRef5145,080,116 - 145,080,278UniSTS
GeneMap99-GB4 RH Map5579.1UniSTS
NCBI RH Map5891.6UniSTS
D5S1887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,934,693 - 149,934,923UniSTSGRCh37
Build 365149,914,886 - 149,915,116RGDNCBI36
Celera5146,015,776 - 146,016,006RGD
Cytogenetic Map5q33.1UniSTS
HuRef5145,081,163 - 145,081,393UniSTS
WI-13830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,937,609 - 149,937,738UniSTSGRCh37
Build 365149,917,802 - 149,917,931RGDNCBI36
Celera5146,018,692 - 146,018,821RGD
Cytogenetic Map5q33.1UniSTS
HuRef5145,084,078 - 145,084,207UniSTS
GeneMap99-GB4 RH Map5583.24UniSTS
Whitehead-RH Map5499.3UniSTS
D5S2650  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,919,158 - 149,919,296UniSTSGRCh37
Build 365149,899,351 - 149,899,489RGDNCBI36
Celera5146,000,241 - 146,000,379RGD
Cytogenetic Map5q33.1UniSTS
HuRef5145,065,625 - 145,065,763UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2358 2284 1498 584 1343 428 3747 1415 3258 337 1430 1598 169 1197 2181 3
Low 73 693 224 39 589 36 609 779 468 81 21 11 5 7 607 2 1
Below cutoff 3 10 2 1 14 1 1 5 1 6 3 1 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_041806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ES315645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U17970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U18918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U18932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U36600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261797   ⟹   ENSP00000261797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,508,131 - 150,558,211 (+)Ensembl
RefSeq Acc Id: ENST00000518299   ⟹   ENSP00000430258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,497,927 - 150,521,323 (+)Ensembl
RefSeq Acc Id: ENST00000518346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,507,640 - 150,521,102 (+)Ensembl
RefSeq Acc Id: ENST00000519157   ⟹   ENSP00000427813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,486,294 - 150,521,731 (+)Ensembl
RefSeq Acc Id: ENST00000521752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,552,561 - 150,553,711 (+)Ensembl
RefSeq Acc Id: ENST00000522491   ⟹   ENSP00000429966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,485,818 - 150,521,458 (+)Ensembl
RefSeq Acc Id: ENST00000523767   ⟹   ENSP00000428604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,497,778 - 150,553,714 (+)Ensembl
RefSeq Acc Id: ENST00000524161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,486,331 - 150,521,227 (+)Ensembl
RefSeq Acc Id: ENST00000624156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,550,414 - 150,550,899 (+)Ensembl
RefSeq Acc Id: NM_001301063   ⟹   NP_001287992
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385150,497,779 - 150,558,211 (+)NCBI
CHM1_15149,309,776 - 149,370,203 (+)NCBI
T2T-CHM13v2.05151,034,321 - 151,094,757 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001543   ⟹   NP_001534
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385150,508,131 - 150,558,211 (+)NCBI
GRCh375149,865,365 - 149,937,773 (+)NCBI
Build 365149,880,623 - 149,917,966 (+)NCBI Archive
HuRef5145,034,217 - 145,084,242 (+)ENTREZGENE
CHM1_15149,320,110 - 149,370,203 (+)NCBI
T2T-CHM13v2.05151,044,673 - 151,094,757 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001534   ⟸   NM_001543
- Peptide Label: isoform 1
- UniProtKB: E7EVJ3 (UniProtKB/Swiss-Prot),   B7Z1Q0 (UniProtKB/Swiss-Prot),   Q96E57 (UniProtKB/Swiss-Prot),   P52848 (UniProtKB/Swiss-Prot),   A8K8T3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001287992   ⟸   NM_001301063
- Peptide Label: isoform 2
- UniProtKB: A8K8T3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000430258   ⟸   ENST00000518299
RefSeq Acc Id: ENSP00000427813   ⟸   ENST00000519157
RefSeq Acc Id: ENSP00000429966   ⟸   ENST00000522491
RefSeq Acc Id: ENSP00000428604   ⟸   ENST00000523767
RefSeq Acc Id: ENSP00000261797   ⟸   ENST00000261797
Protein Domains
Heparan sulphate-N-deacetylase   Sulfotransferase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P52848-F1-model_v2 AlphaFold P52848 1-882 view protein structure

Promoters
RGD ID:6815530
Promoter ID:HG_MRA:13103
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:BC015828
Position:
Human AssemblyChrPosition (strand)Source
Build 365149,915,246 - 149,915,746 (+)MPROMDB
RGD ID:6871266
Promoter ID:EPDNEW_H8798
Type:initiation region
Name:NDST1_1
Description:N-deacetylase and N-sulfotransferase 1
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
GRCh385150,508,131 - 150,508,191EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7680 AgrOrtholog
COSMIC NDST1 COSMIC
Ensembl Genes ENSG00000070614 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261797 ENTREZGENE
  ENST00000261797.7 UniProtKB/Swiss-Prot
  ENST00000518299.1 UniProtKB/TrEMBL
  ENST00000519157.1 UniProtKB/TrEMBL
  ENST00000522491.1 UniProtKB/TrEMBL
  ENST00000523767 ENTREZGENE
  ENST00000523767.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000070614 GTEx
HGNC ID HGNC:7680 ENTREZGENE
Human Proteome Map NDST1 Human Proteome Map
InterPro Heparan_SO4_deacetylase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NST/OST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sulfotransferase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3340 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3340 ENTREZGENE
OMIM 600853 OMIM
PANTHER BIFUNCTIONAL HEPARAN SULFATE N-DEACETYLASE/N-SULFOTRANSFERASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10605 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HSNSD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sulfotransfer_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31486 PharmGKB
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K8T3 ENTREZGENE, UniProtKB/TrEMBL
  B7Z1Q0 ENTREZGENE
  E5RG24_HUMAN UniProtKB/TrEMBL
  E5RG58_HUMAN UniProtKB/TrEMBL
  E5RGN9_HUMAN UniProtKB/TrEMBL
  E7EVJ3 ENTREZGENE
  L0R5C1_HUMAN UniProtKB/TrEMBL
  NDST1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96E57 ENTREZGENE
UniProt Secondary B7Z1Q0 UniProtKB/Swiss-Prot
  E7EVJ3 UniProtKB/Swiss-Prot
  Q96E57 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-19 NDST1  N-deacetylase and N-sulfotransferase 1    N-deacetylase/N-sulfotransferase 1  Symbol and/or name change 5135510 APPROVED
2016-02-02 NDST1  N-deacetylase/N-sulfotransferase 1    N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1  Symbol and/or name change 5135510 APPROVED