NANS (N-acetylneuraminate synthase) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: NANS (N-acetylneuraminate synthase) Homo sapiens
Analyze
Symbol: NANS
Name: N-acetylneuraminate synthase
RGD ID: 1323660
HGNC Page HGNC:19237
Description: Predicted to enable N-acylneuraminate-9-phosphate synthase activity. Predicted to be involved in glycosylation. Located in extracellular exosome. Implicated in spondyloepimetaphyseal dysplasia, Genevieve-type.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: epididymis secretory protein Li 100; HEL-S-100; N-acetylneuraminate-9-phosphate synthase; N-acetylneuraminic acid phosphate synthase; N-acetylneuraminic acid synthase; SAS; SEMDCG; SEMDG; sialic acid phosphate synthase; sialic acid synthase
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
GRCh38998,056,732 - 98,083,077 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl998,056,732 - 98,083,077 (+)EnsemblGRCh38hg38GRCh38
GRCh379100,819,014 - 100,845,359 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36999,858,842 - 99,885,178 (+)NCBINCBI36Build 36hg18NCBI36
Build 34997,898,575 - 97,924,912NCBI
Celera971,333,236 - 71,359,642 (+)NCBICelera
Cytogenetic Map9q22.33NCBI
HuRef970,419,093 - 70,445,498 (+)NCBIHuRef
CHM1_19100,965,405 - 100,991,809 (+)NCBICHM1_1
T2T-CHM13v2.09110,228,674 - 110,255,020 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (NAS)
cytosol  (IEA,TAS)
extracellular exosome  (HDA)

Molecular Pathway 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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB 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
Additional References at PubMed
PMID:693772   PMID:10749855   PMID:10873658   PMID:12477932   PMID:14702039   PMID:15164053   PMID:15489334   PMID:16263121   PMID:16274664   PMID:16597820   PMID:20562859   PMID:20800603  
PMID:21873635   PMID:22658674   PMID:22863883   PMID:22939629   PMID:23376485   PMID:23533145   PMID:23824909   PMID:24412244   PMID:25921289   PMID:26344197   PMID:27173435   PMID:27213289  
PMID:27503909   PMID:28718761   PMID:29467282   PMID:30575818   PMID:32416067   PMID:33961781   PMID:35253629   PMID:35271311   PMID:35831314  


Genomics

Comparative Map Data
NANS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38998,056,732 - 98,083,077 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl998,056,732 - 98,083,077 (+)EnsemblGRCh38hg38GRCh38
GRCh379100,819,014 - 100,845,359 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36999,858,842 - 99,885,178 (+)NCBINCBI36Build 36hg18NCBI36
Build 34997,898,575 - 97,924,912NCBI
Celera971,333,236 - 71,359,642 (+)NCBICelera
Cytogenetic Map9q22.33NCBI
HuRef970,419,093 - 70,445,498 (+)NCBIHuRef
CHM1_19100,965,405 - 100,991,809 (+)NCBICHM1_1
T2T-CHM13v2.09110,228,674 - 110,255,020 (+)NCBIT2T-CHM13v2.0
Nans
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39446,489,255 - 46,503,440 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl446,489,248 - 46,503,632 (+)EnsemblGRCm39 Ensembl
GRCm38446,489,329 - 46,503,438 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl446,489,248 - 46,503,632 (+)EnsemblGRCm38mm10GRCm38
MGSCv37446,502,201 - 46,516,310 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36446,510,429 - 46,524,538 (+)NCBIMGSCv36mm8
Celera446,514,378 - 46,528,658 (+)NCBICelera
Cytogenetic Map4B1NCBI
Nans
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2560,780,441 - 60,797,583 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl560,780,392 - 60,814,950 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx562,751,649 - 62,768,600 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0564,571,024 - 64,587,971 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0564,540,435 - 64,557,380 (+)NCBIRnor_WKY
Rnor_6.0562,109,352 - 62,126,492 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl562,109,328 - 62,126,494 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0566,637,340 - 66,654,051 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4563,072,673 - 63,090,183 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1563,069,334 - 63,090,249 (+)NCBI
Celera559,342,273 - 59,359,222 (+)NCBICelera
Cytogenetic Map5q22NCBI
Nans
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541927,424,674 - 27,448,952 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541927,424,648 - 27,449,058 (-)NCBIChiLan1.0ChiLan1.0
NANS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1997,267,088 - 97,293,385 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl997,267,088 - 97,293,385 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0969,146,016 - 69,172,355 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
NANS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11155,286,290 - 55,310,904 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1155,243,854 - 55,350,194 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1153,719,899 - 53,744,431 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01156,398,348 - 56,422,901 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1156,398,269 - 56,425,087 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11154,894,201 - 54,918,744 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01154,924,876 - 54,949,416 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01155,621,300 - 55,645,840 (+)NCBIUU_Cfam_GSD_1.0
Nans
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947170,225,274 - 170,244,274 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365246,772,831 - 6,791,854 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NANS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1239,881,876 - 239,919,251 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11239,881,984 - 239,912,727 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21268,051,524 - 268,082,265 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NANS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11241,339,636 - 41,363,920 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1241,334,900 - 41,363,855 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603838,378,935 - 38,412,718 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nans
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248252,771,057 - 2,795,815 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248252,771,301 - 2,795,813 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
SHGC-148909  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379100,843,579 - 100,843,878UniSTSGRCh37
Build 36999,883,400 - 99,883,699RGDNCBI36
Celera971,357,856 - 71,358,155RGD
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map9q22.33UniSTS
HuRef970,443,712 - 70,444,011UniSTS
TNG Radiation Hybrid Map937713.0UniSTS
STS-N37069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379100,845,124 - 100,845,305UniSTSGRCh37
Build 36999,884,945 - 99,885,126RGDNCBI36
Celera971,359,401 - 71,359,582RGD
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map9q22.33UniSTS
HuRef970,445,257 - 70,445,438UniSTS
GeneMap99-GB4 RH Map9316.68UniSTS
NCBI RH Map9822.1UniSTS
A008O24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379100,839,675 - 100,839,865UniSTSGRCh37
Build 36999,879,496 - 99,879,686RGDNCBI36
Celera971,353,952 - 71,354,142RGD
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map9q22.33UniSTS
HuRef970,439,808 - 70,439,998UniSTS
GeneMap99-GB4 RH Map9314.77UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
D16S325  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q13.32UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map2p13-p12UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1p36.3-p34.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19q13.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1809
Count of miRNA genes:853
Interacting mature miRNAs:1008
Transcripts:ENST00000210444, ENST00000415280, ENST00000427646, ENST00000461452, ENST00000480925, ENST00000495319
Prediction methods:Microtar, Miranda, Rnahybrid
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.


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 1278 1174 934 383 1411 232 1609 279 847 279 1233 1283 164 671 852 3
Low 1157 1809 790 240 539 233 2747 1913 2864 140 219 328 7 533 1936 1 1
Below cutoff 2 5 2 5 15 4 1 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF161387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF257466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL526281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ446501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000210444   ⟹   ENSP00000210444
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl998,056,732 - 98,083,077 (+)Ensembl
RefSeq Acc Id: ENST00000415280   ⟹   ENSP00000404107
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl998,076,829 - 98,081,055 (+)Ensembl
RefSeq Acc Id: ENST00000427646   ⟹   ENSP00000404642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl998,078,321 - 98,082,166 (+)Ensembl
RefSeq Acc Id: ENST00000461452
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl998,074,643 - 98,083,075 (+)Ensembl
RefSeq Acc Id: ENST00000480925
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl998,056,770 - 98,061,259 (+)Ensembl
RefSeq Acc Id: ENST00000495319
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl998,056,768 - 98,078,304 (+)Ensembl
RefSeq Acc Id: NM_018946   ⟹   NP_061819
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38998,056,732 - 98,083,077 (+)NCBI
GRCh379100,818,959 - 100,845,365 (+)RGD
Build 36999,858,842 - 99,885,178 (+)NCBI Archive
Celera971,333,236 - 71,359,642 (+)RGD
HuRef970,419,093 - 70,445,498 (+)ENTREZGENE
CHM1_19100,965,405 - 100,991,809 (+)NCBI
T2T-CHM13v2.09110,228,674 - 110,255,020 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518787   ⟹   XP_011517089
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38998,060,917 - 98,083,077 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518788   ⟹   XP_011517090
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38998,076,932 - 98,083,077 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423476   ⟹   XP_047279432
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38998,069,649 - 98,083,077 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_061819   ⟸   NM_018946
- UniProtKB: Q9NVD4 (UniProtKB/Swiss-Prot),   Q9NR45 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011517089   ⟸   XM_011518787
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011517090   ⟸   XM_011518788
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000404642   ⟸   ENST00000427646
RefSeq Acc Id: ENSP00000404107   ⟸   ENST00000415280
RefSeq Acc Id: ENSP00000210444   ⟸   ENST00000210444
RefSeq Acc Id: XP_047279432   ⟸   XM_047423476
- Peptide Label: isoform X1
Protein Domains
AFP-like   NeuB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NR45-F1-model_v2 AlphaFold Q9NR45 1-359 view protein structure

Promoters
RGD ID:7215627
Promoter ID:EPDNEW_H13560
Type:initiation region
Name:NANS_1
Description:N-acetylneuraminate synthase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13559  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38998,056,739 - 98,056,799EPDNEW
RGD ID:6807897
Promoter ID:HG_KWN:64279
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:OTTHUMT00000053361,   OTTHUMT00000053363,   UC004AYC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36999,858,474 - 99,858,974 (+)MPROMDB
RGD ID:6807896
Promoter ID:HG_KWN:64280
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000053362,   OTTHUMT00000053364
Position:
Human AssemblyChrPosition (strand)Source
Build 36999,876,456 - 99,878,222 (+)MPROMDB
RGD ID:6807898
Promoter ID:HG_KWN:64281
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC004AYE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36999,879,984 - 99,880,484 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018946.4(NANS):c.1070del (p.Ile357fs) deletion Spondyloepimetaphyseal dysplasia, Genevieve type [RCV001332292] Chr9:98083045 [GRCh38]
Chr9:100845327 [GRCh37]
Chr9:9q22.33
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1 copy number loss See cases [RCV000134375] Chr9:95061030..108695569 [GRCh38]
Chr9:97823312..111457849 [GRCh37]
Chr9:96863133..110497670 [NCBI36]
Chr9:9q22.32-31.3
pathogenic
GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1 copy number loss See cases [RCV000135303] Chr9:94713892..98121186 [GRCh38]
Chr9:97476174..100883468 [GRCh37]
Chr9:96515995..99923289 [NCBI36]
Chr9:9q22.32-22.33
pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_018946.4(NANS):c.562T>C (p.Tyr188His) single nucleotide variant Spondyloepimetaphyseal dysplasia, Genevieve type [RCV000224249] Chr9:98078306 [GRCh38]
Chr9:100840588 [GRCh37]
Chr9:9q22.33
pathogenic
NM_018946.4(NANS):c.709C>T (p.Arg237Cys) single nucleotide variant Spondyloepimetaphyseal dysplasia, Genevieve type [RCV000224653] Chr9:98080921 [GRCh38]
Chr9:100843203 [GRCh37]
Chr9:9q22.33
pathogenic
NM_018946.4(NANS):c.398G>T (p.Gly133Val) single nucleotide variant Spondyloepimetaphyseal dysplasia, Genevieve type [RCV000224713] Chr9:98076967 [GRCh38]
Chr9:100839249 [GRCh37]
Chr9:9q22.33
pathogenic
NM_018946.4(NANS):c.389dup (p.Lys131fs) duplication Spondyloepimetaphyseal dysplasia, Genevieve type [RCV000224496] Chr9:98076953..98076954 [GRCh38]
Chr9:100839235..100839236 [GRCh37]
Chr9:9q22.33
pathogenic
NM_018946.4(NANS):c.979_981dup (p.Ile327dup) duplication Spondyloepimetaphyseal dysplasia, Genevieve type [RCV000224852]|not provided [RCV001854772] Chr9:98082952..98082953 [GRCh38]
Chr9:100845234..100845235 [GRCh37]
Chr9:9q22.33
pathogenic|uncertain significance
NM_018946.4(NANS):c.449-10_449-5delinsATGG indel Spondyloepimetaphyseal dysplasia, Genevieve type [RCV000224207] Chr9:98078183..98078188 [GRCh38]
Chr9:100840465..100840470 [GRCh37]
Chr9:9q22.33
pathogenic
NM_018946.4(NANS):c.448+1G>A single nucleotide variant Spondyloepimetaphyseal dysplasia, Genevieve type [RCV000224899] Chr9:98077018 [GRCh38]
Chr9:100839300 [GRCh37]
Chr9:9q22.33
pathogenic
NM_018946.4(NANS):c.452G>A (p.Arg151His) single nucleotide variant Spondyloepimetaphyseal dysplasia, Genevieve type [RCV000224301]|not specified [RCV001731533] Chr9:98078196 [GRCh38]
Chr9:100840478 [GRCh37]
Chr9:9q22.33
pathogenic|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_018946.4(NANS):c.304G>A (p.Ala102Thr) single nucleotide variant not provided [RCV000731753] Chr9:98060953 [GRCh38]
Chr9:100823235 [GRCh37]
Chr9:9q22.33
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q22.33(chr9:100822154-101304167)x3 copy number gain See cases [RCV000448883] Chr9:100822154..101304167 [GRCh37]
Chr9:9q22.33
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q22.33(chr9:100625192-102129138)x1 copy number loss See cases [RCV000510500] Chr9:100625192..102129138 [GRCh37]
Chr9:9q22.33
pathogenic
GRCh37/hg19 9q22.32-31.1(chr9:97553176-102919383)x3 copy number gain See cases [RCV000510672] Chr9:97553176..102919383 [GRCh37]
Chr9:9q22.32-31.1
likely pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_018946.4(NANS):c.870+296C>A single nucleotide variant not provided [RCV001678663] Chr9:98081378 [GRCh38]
Chr9:100843660 [GRCh37]
Chr9:9q22.33
benign
NM_018946.4(NANS):c.219G>A (p.Ser73=) single nucleotide variant not provided [RCV000928526] Chr9:98060868 [GRCh38]
Chr9:100823150 [GRCh37]
Chr9:9q22.33
likely benign
NM_018946.4(NANS):c.306C>T (p.Ala102=) single nucleotide variant not provided [RCV000900951] Chr9:98060955 [GRCh38]
Chr9:100823237 [GRCh37]
Chr9:9q22.33
likely benign
NM_018946.4(NANS):c.366G>C (p.Leu122=) single nucleotide variant not provided [RCV000937773] Chr9:98076935 [GRCh38]
Chr9:100839217 [GRCh37]
Chr9:9q22.33
likely benign
NM_018946.4(NANS):c.267G>A (p.Glu89=) single nucleotide variant not provided [RCV000983143] Chr9:98060916 [GRCh38]
Chr9:100823198 [GRCh37]
Chr9:9q22.33
likely benign
NM_018946.4(NANS):c.53C>T (p.Pro18Leu) single nucleotide variant not provided [RCV000903043] Chr9:98056861 [GRCh38]
Chr9:100819143 [GRCh37]
Chr9:9q22.33
likely benign
NM_018946.4(NANS):c.684G>A (p.Val228=) single nucleotide variant not provided [RCV000895147] Chr9:98080896 [GRCh38]
Chr9:100843178 [GRCh37]
Chr9:9q22.33
benign
NM_018946.4(NANS):c.744T>C (p.Ser248=) single nucleotide variant not provided [RCV000917562] Chr9:98080956 [GRCh38]
Chr9:100843238 [GRCh37]
Chr9:9q22.33
benign
NM_018946.4(NANS):c.129C>T (p.Ala43=) single nucleotide variant not provided [RCV000943113] Chr9:98056937 [GRCh38]
Chr9:100819219 [GRCh37]
Chr9:9q22.33
benign
NM_018946.4(NANS):c.963C>A (p.Gly321=) single nucleotide variant not provided [RCV000925882] Chr9:98082938 [GRCh38]
Chr9:100845220 [GRCh37]
Chr9:9q22.33
likely benign
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
GRCh37/hg19 9q22.33(chr9:100835906-100870528)x1 copy number loss not provided [RCV000846741] Chr9:100835906..100870528 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.1A>G (p.Met1Val) single nucleotide variant Spondyloepimetaphyseal dysplasia, Genevieve type [RCV002226750]|not provided [RCV000999186] Chr9:98056809 [GRCh38]
Chr9:100819091 [GRCh37]
Chr9:9q22.33
likely pathogenic
NM_018946.4(NANS):c.520C>T (p.Pro174Ser) single nucleotide variant not provided [RCV000896262] Chr9:98078264 [GRCh38]
Chr9:100840546 [GRCh37]
Chr9:9q22.33
benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_018946.4(NANS):c.449-9_449-5del deletion not provided [RCV001093090] Chr9:98078184..98078188 [GRCh38]
Chr9:100840466..100840470 [GRCh37]
Chr9:9q22.33
pathogenic
NM_018946.4(NANS):c.133-224T>A single nucleotide variant not provided [RCV001655178] Chr9:98060558 [GRCh38]
Chr9:100822840 [GRCh37]
Chr9:9q22.33
benign
NM_018946.4(NANS):c.348+81C>A single nucleotide variant not provided [RCV001539538] Chr9:98061078 [GRCh38]
Chr9:100823360 [GRCh37]
Chr9:9q22.33
benign
NM_018946.4(NANS):c.153T>C (p.Ala51=) single nucleotide variant Spondyloepimetaphyseal dysplasia, Genevieve type [RCV001779285]|not provided [RCV001652644] Chr9:98060802 [GRCh38]
Chr9:100823084 [GRCh37]
Chr9:9q22.33
benign
NM_018946.4(NANS):c.870+7C>G single nucleotide variant not provided [RCV000886734] Chr9:98081089 [GRCh38]
Chr9:100843371 [GRCh37]
Chr9:9q22.33
benign
NM_018946.4(NANS):c.871-4A>G single nucleotide variant not provided [RCV000977744] Chr9:98082842 [GRCh38]
Chr9:100845124 [GRCh37]
Chr9:9q22.33
likely benign
NM_018946.4(NANS):c.870+4T>C single nucleotide variant not provided [RCV000974252] Chr9:98081086 [GRCh38]
Chr9:100843368 [GRCh37]
Chr9:9q22.33
benign
NM_018946.4(NANS):c.351G>A (p.Met117Ile) single nucleotide variant not provided [RCV000909539] Chr9:98076920 [GRCh38]
Chr9:100839202 [GRCh37]
Chr9:9q22.33
benign
NM_018946.4(NANS):c.1045T>C (p.Leu349=) single nucleotide variant not provided [RCV000889036] Chr9:98083020 [GRCh38]
Chr9:100845302 [GRCh37]
Chr9:9q22.33
benign
NM_018946.4(NANS):c.-21T>G single nucleotide variant not provided [RCV001638827] Chr9:98056788 [GRCh38]
Chr9:100819070 [GRCh37]
Chr9:9q22.33
benign
NM_018946.4(NANS):c.133-124G>A single nucleotide variant not provided [RCV001649348] Chr9:98060658 [GRCh38]
Chr9:100822940 [GRCh37]
Chr9:9q22.33
benign
Single allele single nucleotide variant not provided [RCV001638513] Chr9:98056438 [GRCh38]
Chr9:100818720 [GRCh37]
Chr9:9q22.33
benign
NM_018946.4(NANS):c.871-121A>G single nucleotide variant not provided [RCV001678634] Chr9:98082725 [GRCh38]
Chr9:100845007 [GRCh37]
Chr9:9q22.33
benign
NM_018946.4(NANS):c.102C>T (p.Asp34=) single nucleotide variant Spondyloepimetaphyseal dysplasia, Genevieve type [RCV001779276]|not provided [RCV001645500] Chr9:98056910 [GRCh38]
Chr9:100819192 [GRCh37]
Chr9:9q22.33
benign
NC_000009.12:g.(?_97428446)_(98796511_?)dup duplication Epileptic encephalopathy [RCV001033232] Chr9:100190728..101558793 [GRCh37]
Chr9:9q22.33
uncertain significance
GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1 copy number loss See cases [RCV001194520] Chr9:96126075..108535272 [GRCh37]
Chr9:9q22.31-31.2
pathogenic
NC_000009.11:g.(?_100190728)_(101558793_?)dup duplication Epileptic encephalopathy [RCV001308947] Chr9:100190728..101558793 [GRCh37]
Chr9:9q22.33
uncertain significance
Single allele deletion Intellectual disability [RCV001293373] Chr9:97834573..107199088 [GRCh37]
Chr9:9q22.32-31.1
pathogenic
NM_018946.4(NANS):c.204G>C (p.Glu68Asp) single nucleotide variant not provided [RCV001684463] Chr9:98060853 [GRCh38]
Chr9:100823135 [GRCh37]
Chr9:9q22.33
benign
NM_018946.4(NANS):c.870+53A>G single nucleotide variant not provided [RCV001688039] Chr9:98081135 [GRCh38]
Chr9:100843417 [GRCh37]
Chr9:9q22.33
benign
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33
likely pathogenic
NM_018946.4(NANS):c.607T>C (p.Tyr203His) single nucleotide variant Spondyloepimetaphyseal dysplasia, Genevieve type [RCV002247147] Chr9:98080819 [GRCh38]
Chr9:100843101 [GRCh37]
Chr9:9q22.33
likely pathogenic
NM_018946.4(NANS):c.752C>T (p.Ser251Leu) single nucleotide variant not provided [RCV002044174] Chr9:98080964 [GRCh38]
Chr9:100843246 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.751T>C (p.Ser251Pro) single nucleotide variant not provided [RCV001896525] Chr9:98080963 [GRCh38]
Chr9:100843245 [GRCh37]
Chr9:9q22.33
uncertain significance
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2
likely pathogenic
NM_018946.4(NANS):c.635T>C (p.Ile212Thr) single nucleotide variant not provided [RCV002005885] Chr9:98080847 [GRCh38]
Chr9:100843129 [GRCh37]
Chr9:9q22.33
uncertain significance
GRCh37/hg19 9q22.33(chr9:100722910-100825500)x1 copy number loss not provided [RCV001827956] Chr9:100722910..100825500 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.791G>A (p.Arg264Gln) single nucleotide variant not provided [RCV001949059] Chr9:98081003 [GRCh38]
Chr9:100843285 [GRCh37]
Chr9:9q22.33
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_018946.4(NANS):c.940G>A (p.Val314Met) single nucleotide variant not provided [RCV001891658] Chr9:98082915 [GRCh38]
Chr9:100845197 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.244G>C (p.Gly82Arg) single nucleotide variant not provided [RCV001872699] Chr9:98060893 [GRCh38]
Chr9:100823175 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.182A>G (p.Lys61Arg) single nucleotide variant not provided [RCV001967157] Chr9:98060831 [GRCh38]
Chr9:100823113 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.476T>G (p.Met159Arg) single nucleotide variant Spondyloepimetaphyseal dysplasia, Genevieve type [RCV001836674] Chr9:98078220 [GRCh38]
Chr9:100840502 [GRCh37]
Chr9:9q22.33
likely pathogenic
GRCh37/hg19 9q22.33(chr9:100827089-101034447)x3 copy number gain not provided [RCV001827789] Chr9:100827089..101034447 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.218C>G (p.Ser73Trp) single nucleotide variant not provided [RCV001884738] Chr9:98060867 [GRCh38]
Chr9:100823149 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.452G>T (p.Arg151Leu) single nucleotide variant not provided [RCV001941276] Chr9:98078196 [GRCh38]
Chr9:100840478 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.464T>C (p.Ile155Thr) single nucleotide variant not provided [RCV002047408] Chr9:98078208 [GRCh38]
Chr9:100840490 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.755C>T (p.Ala252Val) single nucleotide variant not provided [RCV002047544] Chr9:98080967 [GRCh38]
Chr9:100843249 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.1073A>G (p.Lys358Arg) single nucleotide variant not provided [RCV001962248] Chr9:98083048 [GRCh38]
Chr9:100845330 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.356T>G (p.Val119Gly) single nucleotide variant not provided [RCV001922416] Chr9:98076925 [GRCh38]
Chr9:100839207 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.602C>T (p.Ser201Leu) single nucleotide variant not provided [RCV001876631] Chr9:98078346 [GRCh38]
Chr9:100840628 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.886G>C (p.Val296Leu) single nucleotide variant not provided [RCV001901278] Chr9:98082861 [GRCh38]
Chr9:100845143 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.811C>T (p.Arg271Cys) single nucleotide variant not provided [RCV001897267] Chr9:98081023 [GRCh38]
Chr9:100843305 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.314T>C (p.Val105Ala) single nucleotide variant not provided [RCV001954024] Chr9:98060963 [GRCh38]
Chr9:100823245 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.211T>C (p.Tyr71His) single nucleotide variant not provided [RCV001904511] Chr9:98060860 [GRCh38]
Chr9:100823142 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.451C>T (p.Arg151Cys) single nucleotide variant not provided [RCV001957565] Chr9:98078195 [GRCh38]
Chr9:100840477 [GRCh37]
Chr9:9q22.33
uncertain significance
NC_000009.11:g.(?_100190748)_(103062956_?)del deletion Nephronophthisis [RCV001959180] Chr9:100190748..103062956 [GRCh37]
Chr9:9q22.33-31.1
pathogenic
NM_018946.4(NANS):c.803T>C (p.Leu268Pro) single nucleotide variant not provided [RCV002030204] Chr9:98081015 [GRCh38]
Chr9:100843297 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.758C>T (p.Ser253Leu) single nucleotide variant not provided [RCV001906471] Chr9:98080970 [GRCh38]
Chr9:100843252 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.92del (p.Gly31fs) deletion not provided [RCV001958887] Chr9:98056898 [GRCh38]
Chr9:100819180 [GRCh37]
Chr9:9q22.33
pathogenic
NM_018946.4(NANS):c.903T>G (p.Ile301Met) single nucleotide variant not provided [RCV001939236] Chr9:98082878 [GRCh38]
Chr9:100845160 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.104T>C (p.Val35Ala) single nucleotide variant not provided [RCV002014332] Chr9:98056912 [GRCh38]
Chr9:100819194 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_018946.4(NANS):c.303C>T (p.Tyr101=) single nucleotide variant not provided [RCV002191948] Chr9:98060952 [GRCh38]
Chr9:100823234 [GRCh37]
Chr9:9q22.33
likely benign
NM_018946.4(NANS):c.1029C>T (p.Asp343=) single nucleotide variant not provided [RCV002168946] Chr9:98083004 [GRCh38]
Chr9:100845286 [GRCh37]
Chr9:9q22.33
likely benign
NM_018946.4(NANS):c.133-12T>A single nucleotide variant Spondyloepimetaphyseal dysplasia, Genevieve type [RCV002246188] Chr9:98060770 [GRCh38]
Chr9:100823052 [GRCh37]
Chr9:9q22.33
pathogenic
NM_018946.4(NANS):c.771A>G (p.Gly257=) single nucleotide variant not provided [RCV002210181] Chr9:98080983 [GRCh38]
Chr9:100843265 [GRCh37]
Chr9:9q22.33
likely benign
NM_018946.4(NANS):c.666G>A (p.Ala222=) single nucleotide variant not provided [RCV002153524] Chr9:98080878 [GRCh38]
Chr9:100843160 [GRCh37]
Chr9:9q22.33
likely benign
NM_018946.4(NANS):c.273C>T (p.Ser91=) single nucleotide variant not provided [RCV002080786] Chr9:98060922 [GRCh38]
Chr9:100823204 [GRCh37]
Chr9:9q22.33
likely benign
NM_018946.4(NANS):c.348+18C>T single nucleotide variant not provided [RCV002130970] Chr9:98061015 [GRCh38]
Chr9:100823297 [GRCh37]
Chr9:9q22.33
likely benign
NM_018946.4(NANS):c.348+7C>T single nucleotide variant not provided [RCV002130876] Chr9:98061004 [GRCh38]
Chr9:100823286 [GRCh37]
Chr9:9q22.33
likely benign
NM_018946.4(NANS):c.354A>G (p.Ala118=) single nucleotide variant not provided [RCV002214921] Chr9:98076923 [GRCh38]
Chr9:100839205 [GRCh37]
Chr9:9q22.33
likely benign
NM_018946.4(NANS):c.804T>G (p.Leu268=) single nucleotide variant not provided [RCV002105066] Chr9:98081016 [GRCh38]
Chr9:100843298 [GRCh37]
Chr9:9q22.33
likely benign
NM_018946.4(NANS):c.207del (p.Arg69fs) deletion Spondyloepimetaphyseal dysplasia, Genevieve type [RCV002246187] Chr9:98060855 [GRCh38]
Chr9:100823137 [GRCh37]
Chr9:9q22.33
likely pathogenic
NM_018946.4(NANS):c.700G>A (p.Val234Met) single nucleotide variant not provided [RCV002216631] Chr9:98080912 [GRCh38]
Chr9:100843194 [GRCh37]
Chr9:9q22.33
likely benign
NM_018946.4(NANS):c.558C>T (p.Ser186=) single nucleotide variant not provided [RCV002103221] Chr9:98078302 [GRCh38]
Chr9:100840584 [GRCh37]
Chr9:9q22.33
likely benign
NM_018946.4(NANS):c.240G>A (p.Thr80=) single nucleotide variant not provided [RCV002103621] Chr9:98060889 [GRCh38]
Chr9:100823171 [GRCh37]
Chr9:9q22.33
likely benign
NM_018946.4(NANS):c.567G>A (p.Pro189=) single nucleotide variant not provided [RCV002183702] Chr9:98078311 [GRCh38]
Chr9:100840593 [GRCh37]
Chr9:9q22.33
likely benign
GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1 copy number loss Gorlin syndrome [RCV002279743] Chr9:93864974..106661581 [GRCh37]
Chr9:9q22.2-31.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3 copy number gain See cases [RCV000053773] Chr9:92561720..98122580 [GRCh38]
Chr9:95324002..100884862 [GRCh37]
Chr9:94363823..99924683 [NCBI36]
Chr9:9q22.31-22.33
pathogenic
GRCh38/hg38 9q22.32-31.2(chr9:94184266-106730550)x3 copy number gain See cases [RCV000053774] Chr9:94184266..106730550 [GRCh38]
Chr9:96946548..109492831 [GRCh37]
Chr9:95986369..108532652 [NCBI36]
Chr9:9q22.32-31.2
pathogenic
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32
pathogenic
NM_018946.3(NANS):c.904C>T (p.Pro302Ser) single nucleotide variant Malignant melanoma [RCV000061974] Chr9:98082879 [GRCh38]
Chr9:100845161 [GRCh37]
Chr9:99884982 [NCBI36]
Chr9:9q22.33
not provided

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19237 AgrOrtholog
COSMIC NANS COSMIC
Ensembl Genes ENSG00000095380 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000210444 ENTREZGENE
  ENSP00000210444.5 UniProtKB/Swiss-Prot
  ENSP00000404107.1 UniProtKB/TrEMBL
  ENSP00000404642.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000210444 ENTREZGENE
  ENST00000210444.6 UniProtKB/Swiss-Prot
  ENST00000415280.1 UniProtKB/TrEMBL
  ENST00000427646.1 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000095380 GTEx
HGNC ID HGNC:19237 ENTREZGENE
Human Proteome Map NANS Human Proteome Map
InterPro AFP_Neu5c_C UniProtKB/Swiss-Prot
  AFP_Neu5c_C_sf UniProtKB/Swiss-Prot
  Aldolase_TIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Antifreeze_III UniProtKB/Swiss-Prot
  Neu5Ac_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAF UniProtKB/Swiss-Prot
KEGG Report hsa:54187 UniProtKB/Swiss-Prot
NCBI Gene 54187 ENTREZGENE
OMIM 605202 OMIM
  610442 OMIM
Pfam NeuB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134978885 PharmGKB
PRINTS ANTIFREEZIII UniProtKB/Swiss-Prot
PROSITE AFP_LIKE UniProtKB/Swiss-Prot
SMART SAF UniProtKB/Swiss-Prot
Superfamily-SCOP SSF51269 UniProtKB/Swiss-Prot
UniProt Q5TBR0_HUMAN UniProtKB/TrEMBL
  Q5TBR1_HUMAN UniProtKB/TrEMBL
  Q9NR45 ENTREZGENE
  Q9NVD4 ENTREZGENE
  SIAS_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RE98 UniProtKB/Swiss-Prot
  Q8WUV9 UniProtKB/Swiss-Prot
  Q9BWS6 UniProtKB/Swiss-Prot
  Q9NVD4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 NANS  N-acetylneuraminate synthase    N-acetylneuraminic acid synthase  Symbol and/or name change 5135510 APPROVED
2011-09-01 NANS  N-acetylneuraminic acid synthase  NANS  N-acetylneuraminic acid synthase  Symbol and/or name change 5135510 APPROVED