ASPG (asparaginase) - Rat Genome Database

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Gene: ASPG (asparaginase) Homo sapiens
Analyze
Symbol: ASPG
Name: asparaginase
RGD ID: 1344860
HGNC Page HGNC:20123
Description: Predicted to enable acyltransferase activity, transferring groups other than amino-acyl groups; asparaginase activity; and lysophospholipase activity. Predicted to be involved in asparagine metabolic process and phospholipid metabolic process. Predicted to be located in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 60 kDa lysophospholipase; 60-kDa-lysophospholipase; asparaginase homolog; C14orf76; GPA/WT; hASNase1; LYSOLP; lysophospholipase-transacylase; PAF acetylhydrolase; wild-type L-asparaginase
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
GRCh3814104,085,700 - 104,115,582 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14104,085,686 - 104,115,582 (+)EnsemblGRCh38hg38GRCh38
GRCh3714104,552,037 - 104,581,919 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3614103,621,801 - 103,648,678 (+)NCBINCBI36Build 36hg18NCBI36
Celera1484,606,252 - 84,633,128 (+)NCBICelera
Cytogenetic Map14q32.33NCBI
HuRef1484,732,013 - 84,758,881 (+)NCBIHuRef
CHM1_114104,490,428 - 104,517,504 (+)NCBICHM1_1
T2T-CHM13v2.01498,322,937 - 98,352,910 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,4,7,8-Pentachlorodibenzofuran  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-D  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buspirone  (ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
cisplatin  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
D-glucose  (ISO)
endosulfan  (ISO)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fructose  (ISO)
furan  (ISO)
glucose  (ISO)
icariin  (ISO)
indole-3-methanol  (ISO)
leflunomide  (ISO)
lidocaine  (ISO)
methapyrilene  (EXP)
methimazole  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
obeticholic acid  (EXP)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
propiconazole  (ISO)
resveratrol  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (ISO)
Soman  (ISO)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (TAS)

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:21063096   PMID:21873635   PMID:22861376   PMID:24657844   PMID:24768817   PMID:24816252   PMID:28542249   PMID:29554021   PMID:30652415   PMID:32296183   PMID:34461521  
PMID:35979719   PMID:37169557  


Genomics

Comparative Map Data
ASPG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814104,085,700 - 104,115,582 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14104,085,686 - 104,115,582 (+)EnsemblGRCh38hg38GRCh38
GRCh3714104,552,037 - 104,581,919 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3614103,621,801 - 103,648,678 (+)NCBINCBI36Build 36hg18NCBI36
Celera1484,606,252 - 84,633,128 (+)NCBICelera
Cytogenetic Map14q32.33NCBI
HuRef1484,732,013 - 84,758,881 (+)NCBIHuRef
CHM1_114104,490,428 - 104,517,504 (+)NCBICHM1_1
T2T-CHM13v2.01498,322,937 - 98,352,910 (+)NCBIT2T-CHM13v2.0
Aspg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912112,073,117 - 112,094,007 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12112,073,113 - 112,093,993 (+)EnsemblGRCm39 Ensembl
GRCm3812112,106,683 - 112,127,573 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12112,106,679 - 112,127,559 (+)EnsemblGRCm38mm10GRCm38
MGSCv3712113,344,894 - 113,365,784 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612112,554,487 - 112,575,381 (+)NCBIMGSCv36mm8
Celera12113,303,837 - 113,329,491 (+)NCBICelera
Cytogenetic Map12F1NCBI
cM Map1261.14NCBI
Aspg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86136,997,832 - 137,017,417 (+)NCBIGRCr8
mRatBN7.26131,176,727 - 131,196,268 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6131,176,874 - 131,196,268 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6131,349,885 - 131,369,265 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06131,646,851 - 131,666,231 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06131,006,402 - 131,025,782 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06136,682,279 - 136,701,673 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6136,682,126 - 136,701,628 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06145,692,075 - 145,711,786 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46136,909,407 - 136,928,801 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16136,915,593 - 136,934,988 (+)NCBI
Celera6128,729,464 - 128,748,858 (+)NCBICelera
Cytogenetic Map6q32NCBI
Aspg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555382,765,104 - 2,785,526 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555382,765,215 - 2,785,390 (+)NCBIChiLan1.0ChiLan1.0
ASPG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v215105,244,431 - 105,272,292 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan114104,460,933 - 104,488,793 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01484,711,400 - 84,739,769 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.114104,517,278 - 104,544,589 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl14104,517,278 - 104,544,589 (+)Ensemblpanpan1.1panPan2
ASPG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1871,747,319 - 71,764,570 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl871,753,164 - 71,765,349 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha871,256,632 - 71,279,134 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0872,022,962 - 72,051,699 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1871,711,394 - 71,740,236 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0871,752,029 - 71,780,930 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0872,150,669 - 72,179,628 (+)NCBIUU_Cfam_GSD_1.0
Aspg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244086402,312,411 - 2,334,699 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366211,140,658 - 1,163,589 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366211,140,651 - 1,163,608 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASPG
(Sus scrofa - pig)
No map positions available.
ASPG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12482,021,590 - 82,049,281 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2482,021,726 - 82,049,355 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605369,348,460 - 69,375,985 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aspg
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624734931,946 - 950,553 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624734932,877 - 950,509 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ASPG
51 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 copy number loss See cases [RCV000050938] Chr14:100309382..106855263 [GRCh38]
Chr14:100775719..107263478 [GRCh37]
Chr14:99845472..106334523 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 copy number loss See cases [RCV000050696] Chr14:97938637..106855263 [GRCh38]
Chr14:98404974..107263478 [GRCh37]
Chr14:97474727..106334523 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1 copy number loss See cases [RCV000051578] Chr14:101994084..106855405 [GRCh38]
Chr14:102460421..107263620 [GRCh37]
Chr14:101530174..106334665 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1 copy number loss See cases [RCV000051579] Chr14:102210395..104449321 [GRCh38]
Chr14:102676732..104926965 [GRCh37]
Chr14:101746485..103998010 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1 copy number loss See cases [RCV000051580] Chr14:102584963..104898605 [GRCh38]
Chr14:103051300..105364942 [GRCh37]
Chr14:102121053..104435987 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1 copy number loss See cases [RCV000051581] Chr14:103784758..106870558 [GRCh38]
Chr14:104251095..107278770 [GRCh37]
Chr14:103320848..106349815 [NCBI36]
Chr14:14q32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|See cases [RCV000051553] Chr14:100590353..106855264 [GRCh38]
Chr14:101056690..107263479 [GRCh37]
Chr14:100126443..106334524 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1 copy number loss See cases [RCV000051113] Chr14:100808300..106855263 [GRCh38]
Chr14:101274637..107263478 [GRCh37]
Chr14:100344390..106334523 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33
pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] Chr14:94628219..106451054 [GRCh38]
Chr14:95094556..106906960 [GRCh37]
Chr14:94164309..105978005 [NCBI36]
Chr14:14q32.13-32.33
pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33
pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33
pathogenic
NM_001080464.2(ASPG):c.1050+251C>A single nucleotide variant Lung cancer [RCV000098530] Chr14:104104986 [GRCh38]
Chr14:104571323 [GRCh37]
Chr14:14q32.33
uncertain significance
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1 copy number loss See cases [RCV000133831] Chr14:99831655..106855263 [GRCh38]
Chr14:100297992..107263478 [GRCh37]
Chr14:99367745..106334523 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3 copy number gain See cases [RCV000135410] Chr14:100309382..105987610 [GRCh38]
Chr14:100775719..106453697 [GRCh37]
Chr14:99845472..105524742 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3 copy number gain See cases [RCV000135400] Chr14:97638520..106855263 [GRCh38]
Chr14:98104857..107263478 [GRCh37]
Chr14:97174610..106334523 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3 copy number gain See cases [RCV000135875] Chr14:99448012..106850609 [GRCh38]
Chr14:99914349..107258824 [GRCh37]
Chr14:98984102..106329869 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 copy number gain See cases [RCV000135896] Chr14:92540983..104863658 [GRCh38]
Chr14:93007328..105329995 [GRCh37]
Chr14:92077081..104401040 [NCBI36]
Chr14:14q32.12-32.33
pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 copy number loss See cases [RCV000136032] Chr14:95524407..106879501 [GRCh38]
Chr14:95990744..107287708 [GRCh37]
Chr14:95060497..106358753 [NCBI36]
Chr14:14q32.13-32.33
pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1 copy number loss See cases [RCV000139633] Chr14:101925670..106876323 [GRCh38]
Chr14:102392007..107284531 [GRCh37]
Chr14:101461760..106355576 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1 copy number loss See cases [RCV000141932] Chr14:102239422..106877229 [GRCh38]
Chr14:102705759..107285437 [GRCh37]
Chr14:101775512..106356482 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1 copy number loss See cases [RCV000142453] Chr14:101665602..106855263 [GRCh38]
Chr14:102131939..107263478 [GRCh37]
Chr14:101201692..106334523 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1 copy number loss See cases [RCV000142333] Chr14:104051258..106877229 [GRCh38]
Chr14:104517595..107285437 [GRCh37]
Chr14:103587348..106356482 [NCBI36]
Chr14:14q32.33
pathogenic
GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1 copy number loss See cases [RCV000142803] Chr14:103823600..106879298 [GRCh38]
Chr14:104289937..107287505 [GRCh37]
Chr14:103359690..106358550 [NCBI36]
Chr14:14q32.33
pathogenic
GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3 copy number gain See cases [RCV000142593] Chr14:103322414..106855263 [GRCh38]
Chr14:103788751..107263478 [GRCh37]
Chr14:102858504..106334523 [NCBI36]
Chr14:14q32.32-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1 copy number loss See cases [RCV000143154] Chr14:102605096..106879298 [GRCh38]
Chr14:103071433..107287505 [GRCh37]
Chr14:102141186..106358550 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q32.32-32.33(chr14:103332197-104435594)x3 copy number gain See cases [RCV000143756] Chr14:103332197..104435594 [GRCh38]
Chr14:103798534..104901931 [GRCh37]
Chr14:102868287..103972976 [NCBI36]
Chr14:14q32.32-32.33
uncertain significance
GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1 copy number loss See cases [RCV000143662] Chr14:100582059..106877229 [GRCh38]
Chr14:101048396..107285437 [GRCh37]
Chr14:100118149..106356482 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934) copy number gain not provided [RCV000767752] Chr14:100575917..107281934 [GRCh37]
Chr14:14q32.2-32.33
pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103711336-107285437)x1 copy number loss See cases [RCV000446081] Chr14:103711336..107285437 [GRCh37]
Chr14:14q32.32-32.33
pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3 copy number gain See cases [RCV000446497] Chr14:98051841..107285437 [GRCh37]
Chr14:14q32.2-32.33
likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q32.33(chr14:104436909-104575537)x3 copy number gain See cases [RCV000448134] Chr14:104436909..104575537 [GRCh37]
Chr14:14q32.33
uncertain significance
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss See cases [RCV000510629] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103965059-107285437)x1 copy number loss See cases [RCV000511801] Chr14:103965059..107285437 [GRCh37]
Chr14:14q32.32-32.33
pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1 copy number loss See cases [RCV000511171] Chr14:100661319..107285437 [GRCh37]
Chr14:14q32.2-32.33
pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1 copy number loss See cases [RCV000511173] Chr14:102670706..107285437 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33
pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3 copy number gain not provided [RCV000683623] Chr14:102191861..106019451 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q32.33(chr14:104554921-104566119)x0 copy number loss not provided [RCV000751129] Chr14:104554921..104566119 [GRCh37]
Chr14:14q32.33
benign
GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1 copy number loss not provided [RCV000848417] Chr14:101627916..107147698 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
NM_001080464.3(ASPG):c.669C>T (p.Asp223=) single nucleotide variant not provided [RCV000968709] Chr14:104103591 [GRCh38]
Chr14:104569928 [GRCh37]
Chr14:14q32.33
benign
NM_001080464.3(ASPG):c.161G>A (p.Arg54His) single nucleotide variant not provided [RCV000899870] Chr14:104092711 [GRCh38]
Chr14:104559048 [GRCh37]
Chr14:14q32.33
likely benign
GRCh37/hg19 14q32.32-32.33(chr14:103804791-105677579) copy number loss not provided [RCV000767716] Chr14:103804791..105677579 [GRCh37]
Chr14:14q32.32-32.33
likely pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1 copy number loss not provided [RCV000847188] Chr14:102931119..107285437 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1 copy number loss See cases [RCV001195078] Chr14:96829290..107287663 [GRCh37]
Chr14:14q32.2-32.33
pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3 copy number gain not provided [RCV000849272] Chr14:99794230..107285437 [GRCh37]
Chr14:14q32.2-32.33
pathogenic
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 copy number gain not provided [RCV000848687] Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33
pathogenic
NM_001080464.3(ASPG):c.884A>G (p.Asn295Ser) single nucleotide variant not specified [RCV004291640] Chr14:104104434 [GRCh38]
Chr14:104570771 [GRCh37]
Chr14:14q32.33
uncertain significance
NC_000014.8:g.(?_102228231)_(105861009_?)dup duplication Charcot-Marie-Tooth disease axonal type 2O [RCV003107389]|Herpes simplex encephalitis, susceptibility to, 3 [RCV004579596] Chr14:102228231..105861009 [GRCh37]
Chr14:14q32.31-32.33
uncertain significance
NM_001080464.3(ASPG):c.1140G>A (p.Gly380=) single nucleotide variant not provided [RCV000907570] Chr14:104105417 [GRCh38]
Chr14:104571754 [GRCh37]
Chr14:14q32.33
likely benign
NM_001080464.3(ASPG):c.244C>G (p.Leu82Val) single nucleotide variant not specified [RCV004109089] Chr14:104093543 [GRCh38]
Chr14:104559880 [GRCh37]
Chr14:14q32.33
uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss not provided [RCV001006656] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
GRCh37/hg19 14q32.33(chr14:104461553-105232775)x4 copy number gain not provided [RCV001006657] Chr14:104461553..105232775 [GRCh37]
Chr14:14q32.33
uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1 copy number loss not provided [RCV001259801] Chr14:102615953..107285437 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
NC_000014.8:g.(?_102442029)_(105861009_?)del deletion Charcot-Marie-Tooth disease axonal type 2O [RCV003107388] Chr14:102442029..105861009 [GRCh37]
Chr14:14q32.31-32.33
uncertain significance
NC_000014.8:g.(?_103336539)_(105861009_?)dup duplication not provided [RCV002239722] Chr14:103336539..105861009 [GRCh37]
Chr14:14q32.32-32.33
uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1 copy number loss not provided [RCV001829204] Chr14:101593860..106160500 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437) copy number loss not specified [RCV002052456] Chr14:101732158..107285437 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
NC_000014.8:g.(?_103148212)_(105861009_?)del deletion not provided [RCV002000609] Chr14:103148212..105861009 [GRCh37]
Chr14:14q32.31-32.33
uncertain significance
NC_000014.8:g.(?_102229222)_(105861009_?)dup duplication not provided [RCV003120748] Chr14:102229222..105861009 [GRCh37]
Chr14:14q32.31-32.33
uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33
pathogenic
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 copy number gain not provided [RCV002472581] Chr14:84537502..107285437 [GRCh37]
Chr14:14q31.2-32.33
pathogenic
NM_001080464.3(ASPG):c.163G>A (p.Gly55Ser) single nucleotide variant not specified [RCV004082924] Chr14:104092713 [GRCh38]
Chr14:104559050 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.530A>G (p.Gln177Arg) single nucleotide variant not specified [RCV004191153] Chr14:104098869 [GRCh38]
Chr14:104565206 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.1385C>T (p.Thr462Ile) single nucleotide variant not specified [RCV004169399] Chr14:104107297 [GRCh38]
Chr14:104573634 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.1189C>T (p.Arg397Trp) single nucleotide variant not specified [RCV004212104] Chr14:104106814 [GRCh38]
Chr14:104573151 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.944C>T (p.Ala315Val) single nucleotide variant not specified [RCV004210060] Chr14:104104629 [GRCh38]
Chr14:104570966 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.862G>A (p.Glu288Lys) single nucleotide variant not specified [RCV004116133] Chr14:104104412 [GRCh38]
Chr14:104570749 [GRCh37]
Chr14:14q32.33
likely benign
NM_001080464.3(ASPG):c.757C>T (p.Arg253Trp) single nucleotide variant not specified [RCV004233710] Chr14:104104307 [GRCh38]
Chr14:104570644 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.313G>A (p.Glu105Lys) single nucleotide variant not specified [RCV004235647] Chr14:104095540 [GRCh38]
Chr14:104561877 [GRCh37]
Chr14:14q32.33
likely benign
NM_001080464.3(ASPG):c.371C>T (p.Ser124Leu) single nucleotide variant not specified [RCV004080629] Chr14:104095598 [GRCh38]
Chr14:104561935 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.1123A>C (p.Asn375His) single nucleotide variant not specified [RCV004148377] Chr14:104105400 [GRCh38]
Chr14:104571737 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.451A>C (p.Ser151Arg) single nucleotide variant not specified [RCV004111281] Chr14:104097575 [GRCh38]
Chr14:104563912 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.886T>C (p.Cys296Arg) single nucleotide variant not specified [RCV004133972] Chr14:104104436 [GRCh38]
Chr14:104570773 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.461G>A (p.Arg154His) single nucleotide variant not specified [RCV004105240] Chr14:104097585 [GRCh38]
Chr14:104563922 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.144G>C (p.Glu48Asp) single nucleotide variant not specified [RCV004144264] Chr14:104092694 [GRCh38]
Chr14:104559031 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.1676C>T (p.Ala559Val) single nucleotide variant not specified [RCV004115095] Chr14:104111975 [GRCh38]
Chr14:104578312 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.1537G>A (p.Asp513Asn) single nucleotide variant not specified [RCV004089121] Chr14:104111518 [GRCh38]
Chr14:104577855 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.944C>G (p.Ala315Gly) single nucleotide variant not specified [RCV004173418] Chr14:104104629 [GRCh38]
Chr14:104570966 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.19C>T (p.Pro7Ser) single nucleotide variant not specified [RCV004099085] Chr14:104085789 [GRCh38]
Chr14:104552126 [GRCh37]
Chr14:14q32.33
likely benign
NM_001080464.3(ASPG):c.574C>T (p.Arg192Trp) single nucleotide variant not specified [RCV004188665] Chr14:104098913 [GRCh38]
Chr14:104565250 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.134T>A (p.Phe45Tyr) single nucleotide variant not specified [RCV004275591] Chr14:104092684 [GRCh38]
Chr14:104559021 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.1103G>T (p.Arg368Leu) single nucleotide variant not specified [RCV004263198] Chr14:104105380 [GRCh38]
Chr14:104571717 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.1142T>C (p.Val381Ala) single nucleotide variant not specified [RCV004253144] Chr14:104105419 [GRCh38]
Chr14:104571756 [GRCh37]
Chr14:14q32.33
uncertain significance
GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1 copy number loss not provided [RCV003323337] Chr14:103636647..107285437 [GRCh37]
Chr14:14q32.32-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1 copy number loss Neurodevelopmental disorder [RCV003327606] Chr14:102263440..106874929 [GRCh38]
Chr14:14q32.31-32.33
pathogenic
NM_001080464.3(ASPG):c.313G>C (p.Glu105Gln) single nucleotide variant not specified [RCV004340080] Chr14:104095540 [GRCh38]
Chr14:104561877 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.658C>T (p.Arg220Trp) single nucleotide variant not specified [RCV004350027] Chr14:104103580 [GRCh38]
Chr14:104569917 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.1594T>C (p.Tyr532His) single nucleotide variant not specified [RCV004366173] Chr14:104111575 [GRCh38]
Chr14:104577912 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.1378G>A (p.Val460Met) single nucleotide variant not specified [RCV004339836] Chr14:104107290 [GRCh38]
Chr14:104573627 [GRCh37]
Chr14:14q32.33
uncertain significance
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 copy number gain not provided [RCV003485051] Chr14:88580184..107285437 [GRCh37]
Chr14:14q31.3-32.33
pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1 copy number loss not provided [RCV003483217] Chr14:101024609..107285437 [GRCh37]
Chr14:14q32.2-32.33
pathogenic
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33
pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1 copy number loss not specified [RCV003987056] Chr14:102098959..107285437 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
NM_001080464.3(ASPG):c.1327C>T (p.Arg443Trp) single nucleotide variant not specified [RCV004420842] Chr14:104107239 [GRCh38]
Chr14:104573576 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.323A>G (p.His108Arg) single nucleotide variant not specified [RCV004420845] Chr14:104095550 [GRCh38]
Chr14:104561887 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.1342G>C (p.Glu448Gln) single nucleotide variant not specified [RCV004420843] Chr14:104107254 [GRCh38]
Chr14:104573591 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.614T>C (p.Leu205Pro) single nucleotide variant not specified [RCV004420848] Chr14:104098953 [GRCh38]
Chr14:104565290 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.593G>C (p.Cys198Ser) single nucleotide variant not specified [RCV004420847] Chr14:104098932 [GRCh38]
Chr14:104565269 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.1114C>A (p.Leu372Met) single nucleotide variant not specified [RCV004420841] Chr14:104105391 [GRCh38]
Chr14:104571728 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.851G>A (p.Arg284Gln) single nucleotide variant not specified [RCV004420849] Chr14:104104401 [GRCh38]
Chr14:104570738 [GRCh37]
Chr14:14q32.33
likely benign
GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1 copy number loss not provided [RCV004577487] Chr14:101522804..107289470 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
NC_000014.8:g.(?_102873655)_(105861009_?)del deletion Herpes simplex encephalitis, susceptibility to, 3 [RCV004578149] Chr14:102873655..105861009 [GRCh37]
Chr14:14q32.31-32.33
uncertain significance
NM_001080464.3(ASPG):c.1661A>G (p.Gln554Arg) single nucleotide variant not specified [RCV004669744] Chr14:104111960 [GRCh38]
Chr14:104578297 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.202C>T (p.Arg68Cys) single nucleotide variant not specified [RCV004669755] Chr14:104093501 [GRCh38]
Chr14:104559838 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.155G>A (p.Arg52Gln) single nucleotide variant not specified [RCV004669765] Chr14:104092705 [GRCh38]
Chr14:104559042 [GRCh37]
Chr14:14q32.33
likely benign
NM_001080464.3(ASPG):c.454G>A (p.Asp152Asn) single nucleotide variant not specified [RCV004669773] Chr14:104097578 [GRCh38]
Chr14:104563915 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.773C>G (p.Pro258Arg) single nucleotide variant not specified [RCV004669776] Chr14:104104323 [GRCh38]
Chr14:104570660 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001080464.3(ASPG):c.262A>G (p.Met88Val) single nucleotide variant not specified [RCV004669735] Chr14:104093561 [GRCh38]
Chr14:104559898 [GRCh37]
Chr14:14q32.33
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3484
Count of miRNA genes:782
Interacting mature miRNAs:928
Transcripts:ENST00000455920, ENST00000546892, ENST00000548372, ENST00000549809, ENST00000550583, ENST00000551170, ENST00000551177, ENST00000551871, ENST00000552126, ENST00000556267
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
597091030GWAS1187104_Hserum metabolite measurement QTL GWAS1187104 (human)3e-15serum metabolite measurement14104104717104104718Human
597091031GWAS1187105_Hserum metabolite measurement QTL GWAS1187105 (human)9e-30serum metabolite measurement14104110111104110112Human
597091029GWAS1187103_Hserum metabolite measurement QTL GWAS1187103 (human)5e-69serum metabolite measurement14104104717104104718Human
597184347GWAS1280421_Hblood N-acetylasparagine measurement QTL GWAS1280421 (human)1e-30blood N-acetylasparagine measurement14104104717104104718Human
597312670GWAS1408744_HX-23739 measurement QTL GWAS1408744 (human)2e-20X-23739 measurement14104108793104108794Human
597329567GWAS1425641_Hasparagine measurement QTL GWAS1425641 (human)4e-120asparagine measurementblood amino acid measurement (CMO:0003730)14104104717104104718Human
597142737GWAS1238811_Hasparagine measurement QTL GWAS1238811 (human)3e-16asparagine measurementblood amino acid measurement (CMO:0003730)14104108793104108794Human
597136799GWAS1232873_Hasparagine measurement QTL GWAS1232873 (human)2e-178asparagine measurementblood amino acid measurement (CMO:0003730)14104108793104108794Human
597270544GWAS1366618_Hasparagine measurement QTL GWAS1366618 (human)4e-29asparagine measurementblood amino acid measurement (CMO:0003730)14104104717104104718Human
597121564GWAS1217638_Hasparagine measurement, response to acamprosate QTL GWAS1217638 (human)0.000005asparagine measurement, response to acamprosateblood amino acid measurement (CMO:0003730)14104115423104115424Human
597041498GWAS1137572_Hglutamine measurement, amino acid measurement QTL GWAS1137572 (human)1e-11serine measurement, amino acid measurementblood amino acid measurement (CMO:0003730)14104102135104102136Human
597275029GWAS1371103_Hasparagine measurement QTL GWAS1371103 (human)7e-180asparagine measurementblood amino acid measurement (CMO:0003730)14104104717104104718Human
597184532GWAS1280606_HX-25422 measurement QTL GWAS1280606 (human)1e-20X-25422 measurement14104105483104105484Human
597436556GWAS1532630_Hasparagine measurement, cerebrospinal fluid biomarker measurement QTL GWAS1532630 (human)8e-20asparagine measurement, cerebrospinal fluid biomarker measurementcerebrospinal fluid chemistry measurement (CMO:0001241)14104108953104108954Human
597319310GWAS1415384_HX-23739 measurement QTL GWAS1415384 (human)2e-105X-23739 measurement14104104717104104718Human
597078031GWAS1174105_Hserum metabolite measurement QTL GWAS1174105 (human)1e-11serum metabolite measurement14104105483104105484Human
597140813GWAS1236887_HX-23739 measurement QTL GWAS1236887 (human)8e-72X-23739 measurement14104105483104105484Human
597263171GWAS1359245_Hasparagine measurement QTL GWAS1359245 (human)9e-105asparagine measurementblood amino acid measurement (CMO:0003730)14104110111104110112Human
597140812GWAS1236886_HX-23739 measurement QTL GWAS1236886 (human)8e-60X-23739 measurement14104102135104102136Human
597140811GWAS1236885_HX-23739 measurement QTL GWAS1236885 (human)2e-72X-23739 measurement14104108793104108794Human
597187397GWAS1283471_Hasparagine measurement QTL GWAS1283471 (human)2e-181asparagine measurementblood amino acid measurement (CMO:0003730)14104104717104104718Human
597041335GWAS1137409_Hamino acid measurement, threonine measurement QTL GWAS1137409 (human)0.000005proline measurement, amino acid measurementblood amino acid measurement (CMO:0003730)14104102135104102136Human
597041781GWAS1137855_Hamino acid measurement, threonine measurement QTL GWAS1137855 (human)8e-27amino acid measurement, threonine measurementblood amino acid measurement (CMO:0003730)14104102135104102136Human
597267900GWAS1363974_Hmetabolite measurement QTL GWAS1363974 (human)2e-20metabolite measurement14104108989104108990Human
597041456GWAS1137530_Hamino acid measurement, citrulline measurement QTL GWAS1137530 (human)0.000002amino acid measurement, citrulline measurementblood amino acid measurement (CMO:0003730)14104102135104102136Human
597276158GWAS1372232_HX-23739 measurement QTL GWAS1372232 (human)1e-70X-23739 measurement14104108989104108990Human
597041278GWAS1137352_Hasparagine measurement, amino acid measurement QTL GWAS1137352 (human)3e-107asparagine measurement, amino acid measurementblood amino acid measurement (CMO:0003730)14104102135104102136Human
597312560GWAS1408634_Hasparagine measurement QTL GWAS1408634 (human)4e-43asparagine measurementblood amino acid measurement (CMO:0003730)14104108953104108954Human
597101181GWAS1197255_Hsex hormone-binding globulin measurement QTL GWAS1197255 (human)4e-11sex hormone-binding globulin measurement14104115423104115424Human
597058301GWAS1154375_Hhair colour measurement QTL GWAS1154375 (human)1e-08coat/hair pigmentation trait (VT:0010463)coat/hair color measurement (CMO:0001808)14104102135104102136Human
597041338GWAS1137412_Halanine measurement, amino acid measurement QTL GWAS1137412 (human)2e-08tryptophan measurement, amino acid measurementblood amino acid measurement (CMO:0003730)14104102135104102136Human
597187637GWAS1283711_HX-23739 measurement QTL GWAS1283711 (human)1e-68X-23739 measurement14104105483104105484Human
597041446GWAS1137520_Hphenylalanine measurement, amino acid measurement QTL GWAS1137520 (human)5e-08phenylalanine measurement, amino acid measurement14104102135104102136Human
597041383GWAS1137457_Hamino acid measurement QTL GWAS1137457 (human)9e-63amino acid measurement14104102135104102136Human
597041829GWAS1137903_Hasparagine measurement QTL GWAS1137903 (human)1e-74asparagine measurementblood amino acid measurement (CMO:0003730)14104102135104102136Human
597328937GWAS1425011_Hblood N-acetylasparagine measurement QTL GWAS1425011 (human)3e-25blood N-acetylasparagine measurement14104104717104104718Human
597141410GWAS1237484_Hasparagine measurement QTL GWAS1237484 (human)2e-202asparagine measurementblood amino acid measurement (CMO:0003730)14104104717104104718Human
597041824GWAS1137898_Htyrosine measurement, amino acid measurement QTL GWAS1137898 (human)9e-11tyrosine measurement, amino acid measurement14104102135104102136Human
597041454GWAS1137528_Hamino acid measurement QTL GWAS1137528 (human)2e-57amino acid measurement14104102135104102136Human
597295266GWAS1391340_Hasparagine measurement QTL GWAS1391340 (human)9e-294asparagine measurementblood amino acid measurement (CMO:0003730)14104108793104108794Human
597041455GWAS1137529_Hamino acid measurement QTL GWAS1137529 (human)8e-56amino acid measurement14104102135104102136Human
597041391GWAS1137465_Hamino acid measurement QTL GWAS1137465 (human)1e-12histidine measurement, amino acid measurementblood amino acid measurement (CMO:0003730)14104102135104102136Human
597041388GWAS1137462_Hmethionine measurement, amino acid measurement QTL GWAS1137462 (human)9e-24methionine measurement, amino acid measurementblood amino acid measurement (CMO:0003730)14104102135104102136Human
597041453GWAS1137527_Hamino acid measurement QTL GWAS1137527 (human)2e-60amino acid measurement14104102135104102136Human
597279397GWAS1375471_HX-25422 measurement QTL GWAS1375471 (human)3e-11X-25422 measurement14104104717104104718Human
597041387GWAS1137461_Hlysine measurement, amino acid measurement QTL GWAS1137461 (human)2e-14lysine measurement, amino acid measurement14104102135104102136Human
597041384GWAS1137458_Hamino acid measurement QTL GWAS1137458 (human)3e-62amino acid measurement14104102135104102136Human


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
renal system
reproductive system
respiratory system
sensory system
visual system
1199 2371 2751 2213 4754 1687 2182 2 599 1211 438 2185 6386 5698 9 3586 791 1666 1480 170 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001080464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005267590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001750304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AL136001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW024833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX781433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX781435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM544197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX247999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX280385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX407951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000546892   ⟹   ENSP00000448911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,085,691 - 104,112,633 (+)Ensembl
Ensembl Acc Id: ENST00000548372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,085,686 - 104,107,235 (+)Ensembl
Ensembl Acc Id: ENST00000549809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,104,929 - 104,107,233 (+)Ensembl
Ensembl Acc Id: ENST00000550583   ⟹   ENSP00000446856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,107,230 - 104,112,588 (+)Ensembl
Ensembl Acc Id: ENST00000551170   ⟹   ENSP00000447032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,093,491 - 104,105,382 (+)Ensembl
Ensembl Acc Id: ENST00000551177   ⟹   ENSP00000450040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,085,700 - 104,115,582 (+)Ensembl
Ensembl Acc Id: ENST00000551871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,111,621 - 104,112,708 (+)Ensembl
Ensembl Acc Id: ENST00000552126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,104,962 - 104,107,219 (+)Ensembl
Ensembl Acc Id: ENST00000556267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,104,983 - 104,105,344 (+)Ensembl
RefSeq Acc Id: NM_001080464   ⟹   NP_001073933
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,085,700 - 104,115,582 (+)NCBI
GRCh3714104,552,019 - 104,579,100 (+)NCBI
Build 3614103,621,801 - 103,648,678 (+)NCBI Archive
Celera1484,606,252 - 84,633,128 (+)RGD
HuRef1484,732,013 - 84,758,881 (+)ENTREZGENE
CHM1_114104,490,428 - 104,517,504 (+)NCBI
T2T-CHM13v2.01498,322,937 - 98,352,910 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001411060   ⟹   NP_001397989
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,085,700 - 104,112,709 (+)NCBI
T2T-CHM13v2.01498,322,937 - 98,350,037 (+)NCBI
RefSeq Acc Id: XM_005267590   ⟹   XP_005267647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,085,700 - 104,112,709 (+)NCBI
GRCh3714104,552,019 - 104,579,100 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021265   ⟹   XP_016876754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,092,748 - 104,111,191 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021266   ⟹   XP_016876755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,092,748 - 104,112,709 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021267   ⟹   XP_016876756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,092,748 - 104,113,295 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021268   ⟹   XP_016876757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,085,700 - 104,111,191 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021269   ⟹   XP_016876758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,092,748 - 104,111,191 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021270   ⟹   XP_016876759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,092,748 - 104,111,191 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021271   ⟹   XP_016876760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,092,748 - 104,111,191 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021272   ⟹   XP_016876761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,092,748 - 104,112,709 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021273   ⟹   XP_016876762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,092,748 - 104,113,295 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021274   ⟹   XP_016876763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,091,102 - 104,111,191 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021275   ⟹   XP_016876764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,092,748 - 104,112,709 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021276   ⟹   XP_016876765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,092,748 - 104,113,295 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047431355   ⟹   XP_047287311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,092,748 - 104,112,000 (+)NCBI
RefSeq Acc Id: XM_047431356   ⟹   XP_047287312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,085,700 - 104,113,295 (+)NCBI
RefSeq Acc Id: XM_054376005   ⟹   XP_054231980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01498,329,986 - 98,348,519 (+)NCBI
RefSeq Acc Id: XM_054376006   ⟹   XP_054231981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01498,329,986 - 98,350,037 (+)NCBI
RefSeq Acc Id: XM_054376007   ⟹   XP_054231982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01498,329,986 - 98,350,623 (+)NCBI
RefSeq Acc Id: XM_054376008   ⟹   XP_054231983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01498,322,937 - 98,348,519 (+)NCBI
RefSeq Acc Id: XM_054376009   ⟹   XP_054231984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01498,329,986 - 98,348,519 (+)NCBI
RefSeq Acc Id: XM_054376010   ⟹   XP_054231985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01498,329,986 - 98,349,328 (+)NCBI
RefSeq Acc Id: XM_054376011   ⟹   XP_054231986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01498,329,986 - 98,348,519 (+)NCBI
RefSeq Acc Id: XM_054376012   ⟹   XP_054231987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01498,329,986 - 98,348,519 (+)NCBI
RefSeq Acc Id: XM_054376013   ⟹   XP_054231988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01498,329,986 - 98,350,037 (+)NCBI
RefSeq Acc Id: XM_054376014   ⟹   XP_054231989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01498,329,986 - 98,350,623 (+)NCBI
RefSeq Acc Id: XM_054376015   ⟹   XP_054231990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01498,328,339 - 98,348,519 (+)NCBI
RefSeq Acc Id: XM_054376016   ⟹   XP_054231991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01498,329,986 - 98,350,037 (+)NCBI
RefSeq Acc Id: XM_054376017   ⟹   XP_054231992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01498,329,986 - 98,350,623 (+)NCBI
RefSeq Acc Id: XM_054376018   ⟹   XP_054231993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01498,322,937 - 98,350,037 (+)NCBI
RefSeq Acc Id: XM_054376019   ⟹   XP_054231994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01498,322,937 - 98,350,623 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001073933 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397989 (Get FASTA)   NCBI Sequence Viewer  
  XP_005267647 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876754 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876755 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876756 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876757 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876758 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876759 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876760 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876761 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876762 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876763 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876764 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876765 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287311 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287312 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231980 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231981 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231982 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231983 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231984 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231985 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231986 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231987 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231988 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231989 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231990 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231991 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231992 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231993 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231994 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH35836 (Get FASTA)   NCBI Sequence Viewer  
  AAI36638 (Get FASTA)   NCBI Sequence Viewer  
  CAD62331 (Get FASTA)   NCBI Sequence Viewer  
  CAE11776 (Get FASTA)   NCBI Sequence Viewer  
  CAE11778 (Get FASTA)   NCBI Sequence Viewer  
  EAW81857 (Get FASTA)   NCBI Sequence Viewer  
  EAW81859 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000446856.1
  ENSP00000447032.1
  ENSP00000448911
  ENSP00000448911.2
  ENSP00000450040
  ENSP00000450040.1
GenBank Protein Q86U10 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001073933   ⟸   NM_001080464
- Peptide Label: isoform 1
- UniProtKB: Q8IV80 (UniProtKB/Swiss-Prot),   Q86U10 (UniProtKB/Swiss-Prot),   B9EGQ2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005267647   ⟸   XM_005267590
- Peptide Label: isoform X14
- UniProtKB: Q86U10 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016876757   ⟸   XM_017021268
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016876763   ⟸   XM_017021274
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016876755   ⟸   XM_017021266
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016876756   ⟸   XM_017021267
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016876761   ⟸   XM_017021272
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016876762   ⟸   XM_017021273
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016876764   ⟸   XM_017021275
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016876765   ⟸   XM_017021276
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016876754   ⟸   XM_017021265
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016876759   ⟸   XM_017021270
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016876760   ⟸   XM_017021271
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016876758   ⟸   XM_017021269
- Peptide Label: isoform X5
- Sequence:
Ensembl Acc Id: ENSP00000448911   ⟸   ENST00000546892
Ensembl Acc Id: ENSP00000446856   ⟸   ENST00000550583
Ensembl Acc Id: ENSP00000450040   ⟸   ENST00000551177
Ensembl Acc Id: ENSP00000447032   ⟸   ENST00000551170
RefSeq Acc Id: XP_047287312   ⟸   XM_047431356
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047287311   ⟸   XM_047431355
- Peptide Label: isoform X6
RefSeq Acc Id: NP_001397989   ⟸   NM_001411060
- Peptide Label: isoform 2
- UniProtKB: G3V1Y8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054231994   ⟸   XM_054376019
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054231993   ⟸   XM_054376018
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054231983   ⟸   XM_054376008
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054231990   ⟸   XM_054376015
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054231982   ⟸   XM_054376007
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054231989   ⟸   XM_054376014
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054231992   ⟸   XM_054376017
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054231981   ⟸   XM_054376006
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054231988   ⟸   XM_054376013
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054231991   ⟸   XM_054376016
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054231985   ⟸   XM_054376010
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054231980   ⟸   XM_054376005
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054231986   ⟸   XM_054376011
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054231987   ⟸   XM_054376012
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054231984   ⟸   XM_054376009
- Peptide Label: isoform X5
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86U10-F1-model_v2 AlphaFold Q86U10 1-573 view protein structure

Promoters
RGD ID:7228745
Promoter ID:EPDNEW_H20117
Type:initiation region
Name:ASPG_1
Description:asparaginase
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
GRCh3814104,085,700 - 104,085,760EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20123 AgrOrtholog
COSMIC ASPG COSMIC
Ensembl Genes ENSG00000166183 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000546892 ENTREZGENE
  ENST00000546892.6 UniProtKB/TrEMBL
  ENST00000550583.1 UniProtKB/TrEMBL
  ENST00000551170.1 UniProtKB/TrEMBL
  ENST00000551177 ENTREZGENE
  ENST00000551177.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1170 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166183 GTEx
HGNC ID HGNC:20123 ENTREZGENE
Human Proteome Map ASPG Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AsnA_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asp/glu_Ase-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asparaginase/glutaminase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asparaginase/glutaminase_AS2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asparaginase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L-asparaginase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L-asparaginase_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L-asparaginase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L-asparaginase_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:374569 UniProtKB/Swiss-Prot
NCBI Gene ASPG ENTREZGENE
OMIM 618472 OMIM
PANTHER 60 KDA LYSOPHOSPHOLIPASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 39-RELATED UniProtKB/TrEMBL
  BRCA1-ASSOCIATED RING DOMAIN PROTEIN 1 UniProtKB/TrEMBL
  L-ASPARAGINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ank_4 UniProtKB/TrEMBL
  Asparaginase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asparaginase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA166180563 PharmGKB
PIRSF L-ASNase_gatD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L_ASNase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS ANKYRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASNGLNASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASN_GLN_ASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASN_GLN_ASE_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asparaginase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53774 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B9EGQ2 ENTREZGENE
  G3V1Y8 ENTREZGENE, UniProtKB/TrEMBL
  H0YHD3_HUMAN UniProtKB/TrEMBL
  H0YHG5_HUMAN UniProtKB/TrEMBL
  LPP60_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8IV80 ENTREZGENE
UniProt Secondary B9EGQ2 UniProtKB/Swiss-Prot
  Q8IV80 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-03-26 ASPG  asparaginase    asparaginase homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED