NAGPA (N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase) - Rat Genome Database

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Gene: NAGPA (N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase) Homo sapiens
Analyze
Symbol: NAGPA
Name: N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
RGD ID: 1319056
HGNC Page HGNC:17378
Description: Predicted to enable N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity. Predicted to be involved in secretion of lysosomal enzymes. Predicted to be located in membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-N-acetylglucosaminyl phosphodiesterase; APAA; lysosomal alpha-N-acetylglucosaminidase; mannose 6-phosphate-uncovering enzyme; phosphodiester alpha-GlcNAcase; UCE
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38165,024,844 - 5,033,935 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl165,024,844 - 5,034,141 (-)EnsemblGRCh38hg38GRCh38
GRCh37165,074,845 - 5,083,936 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36165,014,846 - 5,023,937 (-)NCBINCBI36Build 36hg18NCBI36
Build 34165,014,847 - 5,023,916NCBI
Celera165,284,227 - 5,293,324 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef165,040,902 - 5,049,999 (-)NCBIHuRef
CHM1_1165,076,051 - 5,085,148 (-)NCBICHM1_1
T2T-CHM13v2.0165,054,343 - 5,063,428 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7786023   PMID:8619474   PMID:8922957   PMID:9110174   PMID:9722550   PMID:10551838   PMID:11408573   PMID:11723124   PMID:12058031   PMID:12477932   PMID:14702039   PMID:15489334  
PMID:15976452   PMID:16344560   PMID:20147709   PMID:21873635   PMID:21956109   PMID:21988832   PMID:22884963   PMID:23572527   PMID:25643770   PMID:26130485   PMID:26186194   PMID:26544806  
PMID:28298427   PMID:28514442   PMID:29289611   PMID:29987050   PMID:31003007   PMID:32109365   PMID:33961781   PMID:33993232   PMID:35696571  


Genomics

Comparative Map Data
NAGPA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38165,024,844 - 5,033,935 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl165,024,844 - 5,034,141 (-)EnsemblGRCh38hg38GRCh38
GRCh37165,074,845 - 5,083,936 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36165,014,846 - 5,023,937 (-)NCBINCBI36Build 36hg18NCBI36
Build 34165,014,847 - 5,023,916NCBI
Celera165,284,227 - 5,293,324 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef165,040,902 - 5,049,999 (-)NCBIHuRef
CHM1_1165,076,051 - 5,085,148 (-)NCBICHM1_1
T2T-CHM13v2.0165,054,343 - 5,063,428 (-)NCBIT2T-CHM13v2.0
Nagpa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39165,013,144 - 5,024,891 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl165,013,153 - 5,021,876 (-)EnsemblGRCm39 Ensembl
GRCm38165,195,280 - 5,204,032 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl165,195,289 - 5,204,012 (-)EnsemblGRCm38mm10GRCm38
MGSCv37165,195,373 - 5,204,105 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36165,110,614 - 5,119,333 (-)NCBIMGSCv36mm8
Celera165,828,302 - 5,837,030 (-)NCBICelera
Cytogenetic Map16A1NCBI
cM Map162.51NCBI
Nagpa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81010,886,723 - 10,895,066 (+)NCBIGRCr8
mRatBN7.21010,380,262 - 10,388,609 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1010,380,264 - 10,388,592 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1015,087,066 - 15,095,397 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01014,575,903 - 14,584,234 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01010,244,859 - 10,253,314 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01010,573,191 - 10,581,516 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1010,573,191 - 10,581,516 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0109,342,962 - 9,351,287 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41010,495,244 - 10,503,572 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11010,495,274 - 10,503,017 (+)NCBI
Celera109,346,383 - 9,354,711 (+)NCBICelera
Cytogenetic Map10q12NCBI
Nagpa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544212,513,643 - 12,520,713 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544212,513,993 - 12,520,604 (+)NCBIChiLan1.0ChiLan1.0
NAGPA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2185,552,112 - 5,561,198 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1169,342,453 - 9,351,545 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0163,948,043 - 3,957,156 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1165,112,351 - 5,121,544 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl165,112,982 - 5,121,437 (-)Ensemblpanpan1.1panPan2
NAGPA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1636,415,664 - 36,425,542 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl636,415,700 - 36,425,176 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha637,807,259 - 37,817,143 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0636,617,867 - 36,627,754 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl636,617,886 - 36,627,754 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1636,414,461 - 36,424,358 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0636,305,662 - 36,315,556 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0636,707,858 - 36,717,756 (+)NCBIUU_Cfam_GSD_1.0
Nagpa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344107,075,299 - 107,083,511 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365304,918,745 - 4,928,926 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365304,918,774 - 4,929,064 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NAGPA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl337,378,471 - 37,388,705 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1337,378,461 - 37,388,705 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2338,384,356 - 38,394,597 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NAGPA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.154,695,824 - 4,705,336 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl54,695,826 - 4,705,172 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606825,949,793 - 25,959,158 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nagpa
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248242,828,835 - 2,835,907 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248242,828,835 - 2,838,116 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NAGPA
75 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_016256.4(NAGPA):c.252C>G (p.His84Gln) single nucleotide variant Stuttering, familial persistent, 2 [RCV000023671] Chr16:5033563 [GRCh38]
Chr16:5083564 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.982C>T (p.Arg328Cys) single nucleotide variant Stuttering, familial persistent, 2 [RCV000023672]|not provided [RCV004691723] Chr16:5028124 [GRCh38]
Chr16:5078125 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_016256.4(NAGPA):c.1538_*5del (p.Phe513fs) deletion Variant of unknown significance [RCV000023673] Chr16:5025473..5025488 [GRCh38]
Chr16:5075474..5075489 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 copy number loss See cases [RCV000053270] Chr16:2850734..7110697 [GRCh38]
Chr16:2900735..7160698 [GRCh37]
Chr16:2840736..7100699 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:4536131-10852466)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|See cases [RCV000053274] Chr16:4536131..10852466 [GRCh38]
Chr16:4586132..10946323 [GRCh37]
Chr16:4526133..10853824 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:4926922-5824683)x3 copy number gain See cases [RCV000135677] Chr16:4926922..5824683 [GRCh38]
Chr16:4976923..5874684 [GRCh37]
Chr16:4916924..5814685 [NCBI36]
Chr16:16p13.3		 likely benign
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3(chr16:5028859-5255498)x1 copy number loss See cases [RCV000143281] Chr16:5028859..5255498 [GRCh38]
Chr16:5078860..5305499 [GRCh37]
Chr16:5018861..5245500 [NCBI36]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
NM_016256.4(NAGPA):c.1485C>T (p.Asn495=) single nucleotide variant not provided [RCV004715798]|not specified [RCV000250902] Chr16:5025541 [GRCh38]
Chr16:5075542 [GRCh37]
Chr16:16p13.3		 benign
NM_016256.4(NAGPA):c.1394C>T (p.Thr465Ile) single nucleotide variant not provided [RCV004714599]|not specified [RCV000246175] Chr16:5025632 [GRCh38]
Chr16:5025632..5025633 [GRCh38]
Chr16:5075633 [GRCh37]
Chr16:5075633..5075634 [GRCh37]
Chr16:16p13.3		 benign
NM_016256.4(NAGPA):c.333A>G (p.Gly111=) single nucleotide variant not provided [RCV004715799]|not specified [RCV000254046] Chr16:5033482 [GRCh38]
Chr16:5083483 [GRCh37]
Chr16:16p13.3		 benign
NM_016256.4(NAGPA):c.1175-36TCCTCCC[2] microsatellite not specified [RCV000254374] Chr16:5027395..5027401 [GRCh38]
Chr16:5077396..5077402 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016256.4(NAGPA):c.920+40A>G single nucleotide variant not provided [RCV004715801]|not specified [RCV000250682] Chr16:5028840 [GRCh38]
Chr16:5078841 [GRCh37]
Chr16:16p13.3		 benign
NM_016256.4(NAGPA):c.683-29G>A single nucleotide variant not provided [RCV004715800]|not specified [RCV000245866] Chr16:5030522 [GRCh38]
Chr16:5080523 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:5042610-6387873)x3 copy number gain See cases [RCV000446875] Chr16:5042610..6387873 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:4541805-5813911)x3 copy number gain See cases [RCV000448804] Chr16:4541805..5813911 [GRCh37]
Chr16:16p13.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_016256.4(NAGPA):c.710T>A (p.Ile237Lys) single nucleotide variant not specified [RCV004291672] Chr16:5030466 [GRCh38]
Chr16:5080467 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1 copy number loss See cases [RCV000511703] Chr16:3146027..6362229 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_016256.4(NAGPA):c.914A>G (p.Asp305Gly) single nucleotide variant not specified [RCV004305890] Chr16:5028886 [GRCh38]
Chr16:5078887 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
NM_016256.4(NAGPA):c.1030C>A (p.His344Asn) single nucleotide variant not specified [RCV004306209] Chr16:5028076 [GRCh38]
Chr16:5078077 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_016256.4(NAGPA):c.236G>A (p.Arg79His) single nucleotide variant not provided [RCV000896689] Chr16:5033579 [GRCh38]
Chr16:5083580 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:5023441-5080086)x1 copy number loss not provided [RCV001006749] Chr16:5023441..5080086 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.1203C>G (p.Gly401=) single nucleotide variant not provided [RCV000878982] Chr16:5027351 [GRCh38]
Chr16:5077352 [GRCh37]
Chr16:16p13.3		 benign
NM_016256.4(NAGPA):c.1122G>A (p.Thr374=) single nucleotide variant not provided [RCV000966341] Chr16:5027984 [GRCh38]
Chr16:5077985 [GRCh37]
Chr16:16p13.3		 benign
NM_016256.4(NAGPA):c.678G>A (p.Glu226=) single nucleotide variant not provided [RCV000976539] Chr16:5031749 [GRCh38]
Chr16:5081750 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016256.4(NAGPA):c.33C>A (p.Leu11=) single nucleotide variant not provided [RCV000976540] Chr16:5033882 [GRCh38]
Chr16:5083883 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:5080120-5201585)x1 copy number loss not provided [RCV001006750] Chr16:5080120..5201585 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3 copy number gain not provided [RCV000846351] Chr16:3731117..5325699 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_016256.4(NAGPA):c.381G>T (p.Ala127=) single nucleotide variant not provided [RCV000962387] Chr16:5033434 [GRCh38]
Chr16:5083435 [GRCh37]
Chr16:16p13.3		 benign
NM_016256.4(NAGPA):c.83C>T (p.Ser28Leu) single nucleotide variant not provided [RCV000890192] Chr16:5033832 [GRCh38]
Chr16:5083833 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:4541805-5813911) copy number gain not specified [RCV002052503] Chr16:4541805..5813911 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_3293141)_(5971108_?)dup duplication Rubinstein-Taybi syndrome [RCV003113465] Chr16:3293141..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_016256.4(NAGPA):c.1429G>A (p.Glu477Lys) single nucleotide variant not specified [RCV004321020] Chr16:5025597 [GRCh38]
Chr16:5075598 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.184G>A (p.Glu62Lys) single nucleotide variant not specified [RCV004164799] Chr16:5033631 [GRCh38]
Chr16:5083632 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.1021G>C (p.Val341Leu) single nucleotide variant not specified [RCV004110578] Chr16:5028085 [GRCh38]
Chr16:5078086 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.838G>C (p.Val280Leu) single nucleotide variant not specified [RCV004599536] Chr16:5028962 [GRCh38]
Chr16:5078963 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.199C>A (p.Pro67Thr) single nucleotide variant not specified [RCV004127351] Chr16:5033616 [GRCh38]
Chr16:5083617 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.386C>G (p.Ala129Gly) single nucleotide variant not specified [RCV004108378] Chr16:5033429 [GRCh38]
Chr16:5083430 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.361G>A (p.Ala121Thr) single nucleotide variant not specified [RCV004146067] Chr16:5033454 [GRCh38]
Chr16:5083455 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.992C>T (p.Pro331Leu) single nucleotide variant not specified [RCV004142286] Chr16:5028114 [GRCh38]
Chr16:5078115 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.1490A>C (p.Glu497Ala) single nucleotide variant not specified [RCV004143631] Chr16:5025536 [GRCh38]
Chr16:5075537 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.925G>A (p.Asp309Asn) single nucleotide variant not specified [RCV004093823] Chr16:5028181 [GRCh38]
Chr16:5078182 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.258G>C (p.Arg86Ser) single nucleotide variant not provided [RCV004695592]|not specified [RCV004191729] Chr16:5033557 [GRCh38]
Chr16:5083558 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.740G>A (p.Arg247Gln) single nucleotide variant not specified [RCV004216268] Chr16:5030436 [GRCh38]
Chr16:5080437 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.1294C>A (p.Pro432Thr) single nucleotide variant not specified [RCV004149295] Chr16:5027181 [GRCh38]
Chr16:5077182 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.812C>T (p.Ala271Val) single nucleotide variant not specified [RCV004235826] Chr16:5028988 [GRCh38]
Chr16:5078989 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.205G>T (p.Ala69Ser) single nucleotide variant not specified [RCV004191057] Chr16:5033610 [GRCh38]
Chr16:5083611 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.455T>C (p.Val152Ala) single nucleotide variant not specified [RCV004204734] Chr16:5033360 [GRCh38]
Chr16:5083361 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.1045G>A (p.Gly349Arg) single nucleotide variant not specified [RCV004191767] Chr16:5028061 [GRCh38]
Chr16:5078062 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.286C>T (p.Arg96Trp) single nucleotide variant not specified [RCV004241523] Chr16:5033529 [GRCh38]
Chr16:5083530 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.1543G>T (p.Asp515Tyr) single nucleotide variant not specified [RCV004195732] Chr16:5025483 [GRCh38]
Chr16:5075484 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.416G>T (p.Gly139Val) single nucleotide variant not specified [RCV004082382] Chr16:5033399 [GRCh38]
Chr16:5083400 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.248C>T (p.Ser83Leu) single nucleotide variant not specified [RCV004138550] Chr16:5033567 [GRCh38]
Chr16:5083568 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.1457A>C (p.Tyr486Ser) single nucleotide variant not specified [RCV004144561] Chr16:5025569 [GRCh38]
Chr16:5075570 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.1000T>C (p.Cys334Arg) single nucleotide variant not specified [RCV004077000] Chr16:5028106 [GRCh38]
Chr16:5078107 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.211C>A (p.Pro71Thr) single nucleotide variant not specified [RCV004222511] Chr16:5033604 [GRCh38]
Chr16:5083605 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.1267G>A (p.Val423Ile) single nucleotide variant not specified [RCV004220147] Chr16:5027287 [GRCh38]
Chr16:5077288 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016256.4(NAGPA):c.1439G>A (p.Arg480Gln) single nucleotide variant not specified [RCV004258073] Chr16:5025587 [GRCh38]
Chr16:5075588 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.1063C>G (p.Pro355Ala) single nucleotide variant not specified [RCV004265927] Chr16:5028043 [GRCh38]
Chr16:5078044 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016256.4(NAGPA):c.527G>C (p.Gly176Ala) single nucleotide variant not specified [RCV004274947] Chr16:5033288 [GRCh38]
Chr16:5083289 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.304C>A (p.Arg102Ser) single nucleotide variant not specified [RCV004314477] Chr16:5033511 [GRCh38]
Chr16:5083512 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.1123G>A (p.Glu375Lys) single nucleotide variant not specified [RCV004348488] Chr16:5027983 [GRCh38]
Chr16:5077984 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.1289T>C (p.Leu430Pro) single nucleotide variant not specified [RCV004352319] Chr16:5027186 [GRCh38]
Chr16:5077187 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.1513C>A (p.Gln505Lys) single nucleotide variant not specified [RCV004339420] Chr16:5025513 [GRCh38]
Chr16:5075514 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.188G>C (p.Ser63Thr) single nucleotide variant not specified [RCV004352519] Chr16:5033627 [GRCh38]
Chr16:5083628 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3 copy number gain not provided [RCV003485087] Chr16:4462897..5172225 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:4971768-5305499)x3 copy number gain not provided [RCV003485088] Chr16:4971768..5305499 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.1146C>T (p.Ala382=) single nucleotide variant not provided [RCV003411260] Chr16:5027874 [GRCh38]
Chr16:5077875 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016256.4(NAGPA):c.1266C>T (p.Ser422=) single nucleotide variant NAGPA-related disorder [RCV003912052] Chr16:5027288 [GRCh38]
Chr16:5077289 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016256.4(NAGPA):c.1476G>A (p.Gln492=) single nucleotide variant NAGPA-related disorder [RCV003912170] Chr16:5025550 [GRCh38]
Chr16:5075551 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016256.4(NAGPA):c.813G>A (p.Ala271=) single nucleotide variant NAGPA-related disorder [RCV003944391] Chr16:5028987 [GRCh38]
Chr16:5078988 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016256.4(NAGPA):c.641A>G (p.Asn214Ser) single nucleotide variant NAGPA-related disorder [RCV003914517] Chr16:5031786 [GRCh38]
Chr16:5081787 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016256.4(NAGPA):c.1501G>A (p.Ala501Thr) single nucleotide variant NAGPA-related disorder [RCV003973924] Chr16:5025525 [GRCh38]
Chr16:5075526 [GRCh37]
Chr16:16p13.3		 benign
NM_016256.4(NAGPA):c.549G>A (p.Leu183=) single nucleotide variant NAGPA-related disorder [RCV003969374] Chr16:5031878 [GRCh38]
Chr16:5081879 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016256.4(NAGPA):c.1533C>T (p.Asn511=) single nucleotide variant NAGPA-related disorder [RCV003964710] Chr16:5025493 [GRCh38]
Chr16:5075494 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016256.4(NAGPA):c.180G>A (p.Glu60=) single nucleotide variant NAGPA-related disorder [RCV003934780] Chr16:5033635 [GRCh38]
Chr16:5083636 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016256.4(NAGPA):c.174C>T (p.Asn58=) single nucleotide variant NAGPA-related disorder [RCV003962075] Chr16:5033641 [GRCh38]
Chr16:5083642 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016256.4(NAGPA):c.1319G>C (p.Gly440Ala) single nucleotide variant NAGPA-related disorder [RCV003931895] Chr16:5027156 [GRCh38]
Chr16:5077157 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016256.4(NAGPA):c.139C>T (p.Leu47Phe) single nucleotide variant NAGPA-related disorder [RCV003927303] Chr16:5033676 [GRCh38]
Chr16:5083677 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016256.4(NAGPA):c.19C>A (p.Arg7Ser) single nucleotide variant not specified [RCV004469116] Chr16:5033896 [GRCh38]
Chr16:5083897 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.1534C>A (p.Pro512Thr) single nucleotide variant not specified [RCV004469110] Chr16:5025492 [GRCh38]
Chr16:5075493 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.154A>C (p.Thr52Pro) single nucleotide variant not specified [RCV004469113] Chr16:5033661 [GRCh38]
Chr16:5083662 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.397C>A (p.Arg133Ser) single nucleotide variant not specified [RCV004469139] Chr16:5033418 [GRCh38]
Chr16:5083419 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.1027G>A (p.Gly343Arg) single nucleotide variant not specified [RCV004469073] Chr16:5028079 [GRCh38]
Chr16:5078080 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.1180C>T (p.Pro394Ser) single nucleotide variant not specified [RCV004469088] Chr16:5027374 [GRCh38]
Chr16:5077375 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.737A>G (p.Asp246Gly) single nucleotide variant not specified [RCV004469155] Chr16:5030439 [GRCh38]
Chr16:5080440 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.128C>T (p.Ala43Val) single nucleotide variant not specified [RCV004469093] Chr16:5033687 [GRCh38]
Chr16:5083688 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.620G>A (p.Arg207His) single nucleotide variant not specified [RCV004469150] Chr16:5031807 [GRCh38]
Chr16:5081808 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.738C>A (p.Asp246Glu) single nucleotide variant not specified [RCV004469158] Chr16:5030438 [GRCh38]
Chr16:5080439 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.487G>A (p.Gly163Arg) single nucleotide variant not specified [RCV004641166] Chr16:5033328 [GRCh38]
Chr16:5083329 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.607G>A (p.Val203Met) single nucleotide variant not specified [RCV004641164] Chr16:5031820 [GRCh38]
Chr16:5081821 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.602G>C (p.Gly201Ala) single nucleotide variant not specified [RCV004641165] Chr16:5031825 [GRCh38]
Chr16:5081826 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.1475A>G (p.Gln492Arg) single nucleotide variant not specified [RCV004652261] Chr16:5025551 [GRCh38]
Chr16:5075552 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016256.4(NAGPA):c.58T>C (p.Trp20Arg) single nucleotide variant not specified [RCV004652262] Chr16:5033857 [GRCh38]
Chr16:5083858 [GRCh37]
Chr16:16p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5839
Count of miRNA genes:1024
Interacting mature miRNAs:1291
Transcripts:ENST00000312251, ENST00000381955, ENST00000561580, ENST00000562037, ENST00000562346, ENST00000562746, ENST00000563578, ENST00000564397, ENST00000564922, ENST00000565876, ENST00000566137, ENST00000567739, ENST00000568202, ENST00000568528, ENST00000569296, ENST00000569793, ENST00000591478
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406892066GWAS541042_Hn-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase measurement QTL GWAS541042 (human)1e-39n-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase measurement1650294655029466Human
407177254GWAS826230_Hblood protein measurement QTL GWAS826230 (human)2e-18blood protein measurementblood protein measurement (CMO:0000028)1650294655029466Human
406969554GWAS618530_Hn-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase measurement QTL GWAS618530 (human)1e-74n-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase measurement1650294655029466Human
407213185GWAS862161_Hblood protein measurement QTL GWAS862161 (human)9e-32blood protein measurementblood protein measurement (CMO:0000028)1650256325025633Human
407210400GWAS859376_Hblood protein measurement QTL GWAS859376 (human)2e-37blood protein measurementblood protein measurement (CMO:0000028)1650252255025226Human
407275139GWAS924115_Hreaction time measurement QTL GWAS924115 (human)0.000005reaction time measurement1650334825033483Human
407251869GWAS900845_Hadolescent idiopathic scoliosis QTL GWAS900845 (human)0.000003adolescent idiopathic scoliosis1650249515024952Human
407235465GWAS884441_Hmucocutaneous lymph node syndrome, vasculitis QTL GWAS884441 (human)8e-10mucocutaneous lymph node syndrome, vasculitis1650300855030086Human
407047359GWAS696335_Hneuroticism measurement, cognitive function measurement QTL GWAS696335 (human)3e-09neuroticism measurement, cognitive function measurement1650334825033483Human
407213467GWAS862443_Hblood protein measurement QTL GWAS862443 (human)7e-50blood protein measurementblood protein measurement (CMO:0000028)1650294655029466Human

Markers in Region
RH64906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,074,858 - 5,074,979UniSTSGRCh37
Build 36165,014,859 - 5,014,980RGDNCBI36
Celera165,284,240 - 5,284,361RGD
Cytogenetic Map16p13.3UniSTS
HuRef165,040,915 - 5,041,036UniSTS
RH80883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,074,844 - 5,075,078UniSTSGRCh37
Build 36165,014,845 - 5,015,079RGDNCBI36
Celera165,284,226 - 5,284,460RGD
Cytogenetic Map16p13.3UniSTS
HuRef165,040,901 - 5,041,135UniSTS
GeneMap99-GB4 RH Map1677.15UniSTS
SHGC-67307  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map4q13.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map5q22.1UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p36.21UniSTS
TNG Radiation Hybrid Map41213.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7305 6471 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC026458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF052111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF187072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA879815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000312251   ⟹   ENSP00000310998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,024,844 - 5,033,935 (-)Ensembl
Ensembl Acc Id: ENST00000381955   ⟹   ENSP00000371381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,024,844 - 5,033,934 (-)Ensembl
Ensembl Acc Id: ENST00000561580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,031,028 - 5,033,939 (-)Ensembl
Ensembl Acc Id: ENST00000562037   ⟹   ENSP00000464994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,028,946 - 5,033,643 (-)Ensembl
Ensembl Acc Id: ENST00000562346   ⟹   ENSP00000468270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,028,120 - 5,033,636 (-)Ensembl
Ensembl Acc Id: ENST00000562746   ⟹   ENSP00000455900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,024,872 - 5,033,918 (-)Ensembl
Ensembl Acc Id: ENST00000563578   ⟹   ENSP00000467385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,024,930 - 5,033,632 (-)Ensembl
Ensembl Acc Id: ENST00000564397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,024,872 - 5,030,158 (-)Ensembl
Ensembl Acc Id: ENST00000564922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,031,843 - 5,034,141 (-)Ensembl
Ensembl Acc Id: ENST00000565876   ⟹   ENSP00000465523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,027,316 - 5,033,338 (-)Ensembl
Ensembl Acc Id: ENST00000566137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,027,278 - 5,028,403 (-)Ensembl
Ensembl Acc Id: ENST00000567739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,027,290 - 5,029,118 (-)Ensembl
Ensembl Acc Id: ENST00000568202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,024,910 - 5,033,926 (-)Ensembl
Ensembl Acc Id: ENST00000568528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,028,072 - 5,028,614 (-)Ensembl
Ensembl Acc Id: ENST00000569296   ⟹   ENSP00000465949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,027,301 - 5,033,358 (-)Ensembl
Ensembl Acc Id: ENST00000569793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,030,314 - 5,030,651 (-)Ensembl
Ensembl Acc Id: ENST00000591478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,030,442 - 5,033,628 (-)Ensembl
Ensembl Acc Id: ENST00000649828   ⟹   ENSP00000498032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,024,901 - 5,033,922 (-)Ensembl
RefSeq Acc Id: NM_016256   ⟹   NP_057340
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,024,844 - 5,033,935 (-)NCBI
GRCh37165,074,845 - 5,083,942 (-)ENTREZGENE
Build 36165,014,846 - 5,023,937 (-)NCBI Archive
HuRef165,040,902 - 5,049,999 (-)ENTREZGENE
CHM1_1165,076,051 - 5,085,148 (-)NCBI
T2T-CHM13v2.0165,054,343 - 5,063,428 (-)NCBI
Sequence:
RefSeq Acc Id: NP_057340   ⟸   NM_016256
- Peptide Label: precursor
- UniProtKB: B2RAS1 (UniProtKB/Swiss-Prot),   Q96EJ8 (UniProtKB/Swiss-Prot),   Q9UK23 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000498032   ⟸   ENST00000649828
Ensembl Acc Id: ENSP00000310998   ⟸   ENST00000312251
Ensembl Acc Id: ENSP00000468270   ⟸   ENST00000562346
Ensembl Acc Id: ENSP00000464994   ⟸   ENST00000562037
Ensembl Acc Id: ENSP00000455900   ⟸   ENST00000562746
Ensembl Acc Id: ENSP00000467385   ⟸   ENST00000563578
Ensembl Acc Id: ENSP00000465523   ⟸   ENST00000565876
Ensembl Acc Id: ENSP00000371381   ⟸   ENST00000381955
Ensembl Acc Id: ENSP00000465949   ⟸   ENST00000569296
Protein Domains
EGF-like   Phosphodiester glycosidase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UK23-F1-model_v2 AlphaFold Q9UK23 1-515 view protein structure

Promoters
RGD ID:6793305
Promoter ID:HG_KWN:22956
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000381955,   NM_016256,   UC002CYF.1,   UC002CYH.1,   UC002CYI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36165,023,636 - 5,024,136 (-)MPROMDB
RGD ID:7231249
Promoter ID:EPDNEW_H21371
Type:multiple initiation site
Name:NAGPA_1
Description:N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
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
GRCh38165,033,935 - 5,033,995EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17378 AgrOrtholog
COSMIC NAGPA COSMIC
Ensembl Genes ENSG00000103174 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000312251 ENTREZGENE
  ENST00000312251.8 UniProtKB/Swiss-Prot
  ENST00000381955.7 UniProtKB/Swiss-Prot
  ENST00000562037.1 UniProtKB/TrEMBL
  ENST00000562346.2 UniProtKB/TrEMBL
  ENST00000562746.5 UniProtKB/Swiss-Prot
  ENST00000563578.5 UniProtKB/TrEMBL
  ENST00000565876.5 UniProtKB/TrEMBL
  ENST00000569296.5 UniProtKB/TrEMBL
  ENST00000649828.1 UniProtKB/Swiss-Prot
Gene3D-CATH Tie2 ligand-binding domain superfamily UniProtKB/Swiss-Prot
GTEx ENSG00000103174 GTEx
HGNC ID HGNC:17378 ENTREZGENE
Human Proteome Map NAGPA Human Proteome Map
InterPro EGF-like_dom UniProtKB/Swiss-Prot
  NAGPA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51172 UniProtKB/Swiss-Prot
NCBI Gene 51172 ENTREZGENE
OMIM 607985 OMIM
PANTHER N-ACETYLGLUCOSAMINE-1-PHOSPHODIESTER ALPHA-N-ACETYLGLUCOSAMINIDASE UniProtKB/Swiss-Prot
  N-ACETYLGLUCOSAMINE-1-PHOSPHODIESTER ALPHA-N-ACETYLGLUCOSAMINIDASE UniProtKB/Swiss-Prot
  N-ACETYLGLUCOSAMINE-1-PHOSPHODIESTER ALPHA-N-ACETYLGLUCOSAMINIDASE UniProtKB/TrEMBL
  N-ACETYLGLUCOSAMINE-1-PHOSPHODIESTER ALPHA-N-ACETYLGLUCOSAMINIDASE UniProtKB/TrEMBL
Pfam NAGPA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134940049 PharmGKB
PROSITE EGF_1 UniProtKB/Swiss-Prot
  EGF_2 UniProtKB/Swiss-Prot
  EGF_3 UniProtKB/Swiss-Prot
UniProt B2RAS1 ENTREZGENE
  K7EJ25_HUMAN UniProtKB/TrEMBL
  K7EK96_HUMAN UniProtKB/TrEMBL
  K7EL75_HUMAN UniProtKB/TrEMBL
  K7EPH3_HUMAN UniProtKB/TrEMBL
  K7ERI4_HUMAN UniProtKB/TrEMBL
  NAGPA_HUMAN UniProtKB/Swiss-Prot
  Q96EJ8 ENTREZGENE
  Q9UK23 ENTREZGENE
UniProt Secondary B2RAS1 UniProtKB/Swiss-Prot
  Q96EJ8 UniProtKB/Swiss-Prot