ADK (adenosine kinase) - Rat Genome Database

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Gene: ADK (adenosine kinase) Homo sapiens
Analyze
Symbol: ADK
Name: adenosine kinase
RGD ID: 737582
HGNC Page HGNC:257
Description: Enables RNA binding activity. Predicted to be involved in purine nucleobase metabolic process. Predicted to act upstream of or within dATP biosynthetic process and purine ribonucleoside salvage. Located in cytosol; nucleoplasm; and plasma membrane. Implicated in hypermethioninemia due to adenosine kinase deficiency. Biomarker of temporal lobe epilepsy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adenosine 5'-phosphotransferase; AK; testicular tissue protein Li 14
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
GRCh381074,151,221 - 74,709,290 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1074,151,202 - 74,709,963 (+)EnsemblGRCh38hg38GRCh38
GRCh371075,910,979 - 76,469,048 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361075,580,971 - 76,139,066 (+)NCBINCBI36Build 36hg18NCBI36
Build 341075,606,449 - 76,139,066NCBI
Celera1069,196,280 - 69,755,359 (+)NCBICelera
Cytogenetic Map10q22.2NCBI
HuRef1069,906,246 - 70,465,523 (+)NCBIHuRef
CHM1_11076,192,927 - 76,750,970 (+)NCBICHM1_1
T2T-CHM13v2.01075,022,606 - 75,580,765 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methylcholine  (EXP)
3-phenylprop-2-enal  (EXP)
4'-hydroxyacetophenone  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (ISO)
beta-lapachone  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
cadmium sulfate  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP,ISO)
dicrotophos  (EXP)
diuron  (EXP)
dorsomorphin  (EXP)
endosulfan  (ISO)
enilconazole  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
glafenine  (ISO)
irinotecan  (ISO)
ivermectin  (EXP)
kainic acid  (ISO)
lead diacetate  (ISO)
lead(II) chloride  (EXP)
lithium atom  (ISO)
lithium hydride  (ISO)
menadione  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-Acetyl-S-(1,2-dichlorovinyl)-cysteine  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nickel atom  (EXP)
nicotine  (ISO)
O-methyleugenol  (EXP)
oxaliplatin  (ISO)
paracetamol  (ISO)
perfluorododecanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
Propiverine  (ISO)
protein kinase inhibitor  (EXP)
quercitrin  (EXP)
rac-lactic acid  (EXP)
ritodrine  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (ISO)
sodium dichromate  (EXP,ISO)
sodium fluoride  (ISO)
Soman  (ISO)
T-2 toxin  (EXP)
tauroursodeoxycholic acid  (ISO)
temozolomide  (EXP)
testosterone  (EXP,ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
tungsten  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
cytosol  (IBA,IDA,IEA,TAS)
nucleoplasm  (IDA)
nucleus  (IBA,IEA)
plasma membrane  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Upregulation of adenosine kinase in astrocytes in experimental and human temporal lobe epilepsy. Aronica E, etal., Epilepsia. 2011 Sep;52(9):1645-55. doi: 10.1111/j.1528-1167.2011.03115.x. Epub 2011 Jun 2.
2. Adenosine kinase inhibitor GP515 attenuates hepatic leukocyte adhesion after hemorrhagic hypotension. Bauer C, etal., Am J Physiol. 1997 Dec;273(6 Pt 1):G1297-303.
3. Neonatal hepatic steatosis by disruption of the adenosine kinase gene. Boison D, etal., Proc Natl Acad Sci U S A 2002 May 14;99(10):6985-90. Epub 2002 May 7.
4. Anti-inflammatory effects of ABT-702, a novel non-nucleoside adenosine kinase inhibitor, in rat adjuvant arthritis. Boyle DL, etal., J Pharmacol Exp Ther. 2001 Feb;296(2):495-500.
5. Protective effect of an adenosine kinase inhibitor in septic shock. Firestein GS, etal., J Immunol. 1994 Jun 15;152(12):5853-9.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
8. Local disruption of glial adenosine homeostasis in mice associates with focal electrographic seizures: a first step in epileptogenesis? Li T, etal., Glia. 2012 Jan;60(1):83-95. doi: 10.1002/glia.21250. Epub 2011 Sep 30.
9. An adenosine kinase inhibitor attenuates tactile allodynia in a rat model of diabetic neuropathic pain. Lynch JJ 3rd, etal., Eur J Pharmacol. 1999 Jan 8;364(2-3):141-6.
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. Insulin induces expression of adenosine kinase gene in rat lymphocytes by signaling through the mitogen-activated protein kinase pathway. Pawelczyk T, etal., Exp Cell Res. 2003 May 15;286(1):152-63.
12. Transgenic overexpression of adenosine kinase aggravates cell death in ischemia. Pignataro G, etal., J Cereb Blood Flow Metab. 2007 Jan;27(1):1-5. Epub 2006 May 10.
13. Downregulation of hippocampal adenosine kinase after focal ischemia as potential endogenous neuroprotective mechanism. Pignataro G, etal., J Cereb Blood Flow Metab. 2008 Jan;28(1):17-23. Epub 2007 Apr 25.
14. Neuroinflammation after neonatal hypoxia-ischemia is associated with alterations in the purinergic system: adenosine deaminase 1 isoenzyme is the most predominant after insult. Pimentel VC, etal., Mol Cell Biochem. 2015 May;403(1-2):169-77. doi: 10.1007/s11010-015-2347-9. Epub 2015 Feb 27.
15. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
16. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
17. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
18. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
19. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
20. Diabetes-induced decrease of adenosine kinase expression impairs the proliferation potential of diabetic rat T lymphocytes. Sakowicz-Burkiewicz M, etal., Immunology. 2006 Jul;118(3):402-12.
21. Adenosine kinase determines the degree of brain injury after ischemic stroke in mice. Shen HY, etal., J Cereb Blood Flow Metab. 2011 Jul;31(7):1648-59. doi: 10.1038/jcbfm.2011.30. Epub 2011 Mar 23.
22. Adenosine kinase inhibitor GP515 improves experimental colitis in mice. Siegmund B, etal., J Pharmacol Exp Ther. 2001 Jan;296(1):99-105.
23. Working memory and the homeostatic control of brain adenosine by adenosine kinase. Singer P, etal., Neuroscience. 2012 Apr 18.
24. Delayed treatment with an adenosine kinase inhibitor, GP683, attenuates infarct size in rats with temporary middle cerebral artery occlusion. Tatlisumak T, etal., Stroke. 1998 Sep;29(9):1952-8.
25. A-134974: a novel adenosine kinase inhibitor, relieves tactile allodynia via spinal sites of action in peripheral nerve injured rats. Zhu CZ, etal., Brain Res. 2001 Jun 29;905(1-2):104-10.
Additional References at PubMed
PMID:185014   PMID:227870   PMID:2999129   PMID:8577746   PMID:8917457   PMID:9070863   PMID:9843365   PMID:10215863   PMID:11242543   PMID:12112843   PMID:12477932   PMID:12820662  
PMID:15489334   PMID:16344560   PMID:16385451   PMID:16712791   PMID:18309031   PMID:18600536   PMID:18600545   PMID:19635462   PMID:19913121   PMID:20379614   PMID:20392501   PMID:20698827  
PMID:21873635   PMID:21931568   PMID:21988832   PMID:22092111   PMID:22658674   PMID:23704328   PMID:24128682   PMID:25108383   PMID:25575137   PMID:26040919   PMID:26329539   PMID:26344197  
PMID:26389662   PMID:28514442   PMID:28789481   PMID:29987050   PMID:30575818   PMID:31470122   PMID:31980649   PMID:32344865   PMID:32416067   PMID:33309011   PMID:33961781   PMID:34349018  
PMID:34479194   PMID:35831314   PMID:35944360   PMID:36181835   PMID:36215168   PMID:36634849   PMID:37059927   PMID:37223481   PMID:37827155   PMID:38113892   PMID:38699782  


Genomics

Comparative Map Data
ADK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381074,151,221 - 74,709,290 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1074,151,202 - 74,709,963 (+)EnsemblGRCh38hg38GRCh38
GRCh371075,910,979 - 76,469,048 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361075,580,971 - 76,139,066 (+)NCBINCBI36Build 36hg18NCBI36
Build 341075,606,449 - 76,139,066NCBI
Celera1069,196,280 - 69,755,359 (+)NCBICelera
Cytogenetic Map10q22.2NCBI
HuRef1069,906,246 - 70,465,523 (+)NCBIHuRef
CHM1_11076,192,927 - 76,750,970 (+)NCBICHM1_1
T2T-CHM13v2.01075,022,606 - 75,580,765 (+)NCBIT2T-CHM13v2.0
Adk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391421,102,622 - 21,498,637 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1421,102,642 - 21,498,637 (+)EnsemblGRCm39 Ensembl
GRCm381421,052,574 - 21,448,569 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1421,052,574 - 21,448,569 (+)EnsemblGRCm38mm10GRCm38
MGSCv371421,871,855 - 22,267,769 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361419,841,183 - 20,237,099 (+)NCBIMGSCv36mm8
Celera1417,431,873 - 17,830,302 (+)NCBICelera
Cytogenetic Map14A3NCBI
cM Map1411.58NCBI
Adk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8152,912,543 - 3,295,745 (-)NCBIGRCr8
mRatBN7.2152,863,241 - 3,246,453 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl152,863,244 - 3,246,510 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx152,875,460 - 3,256,674 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0154,261,930 - 4,643,162 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0152,874,259 - 3,255,479 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0153,033,535 - 3,435,888 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl153,033,495 - 3,435,888 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0153,011,935 - 3,414,198 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4153,071,412 - 3,458,891 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1153,071,412 - 3,458,891 (-)NCBI
Celera151,344,739 - 1,727,570 (+)NCBICelera
RH 3.4 Map1549.2RGD
Cytogenetic Map15p16NCBI
Adk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543717,279,240 - 17,786,079 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543717,279,541 - 17,786,140 (-)NCBIChiLan1.0ChiLan1.0
ADK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2886,300,855 - 86,864,826 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11086,306,238 - 86,877,875 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01070,672,967 - 71,236,950 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11073,342,806 - 73,903,071 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1073,342,900 - 73,902,490 (+)Ensemblpanpan1.1panPan2
ADK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1424,540,626 - 25,047,032 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl424,540,659 - 25,046,464 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha424,676,998 - 25,182,573 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0424,822,917 - 25,329,840 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl424,822,951 - 25,330,373 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1424,739,155 - 25,224,845 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0424,918,225 - 25,425,716 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0425,272,740 - 25,780,743 (+)NCBIUU_Cfam_GSD_1.0
Adk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721356,067,293 - 56,531,032 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365214,557,971 - 5,023,800 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365214,560,078 - 5,023,780 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1476,836,095 - 77,322,416 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11476,836,072 - 77,320,586 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21482,962,349 - 83,442,121 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ADK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1956,659,284 - 57,222,279 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl956,660,129 - 57,222,147 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604817,181,604 - 17,794,628 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Adk
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247547,612,881 - 8,156,681 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247547,612,817 - 8,156,038 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADK
138 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006721.4(ADK):c.953C>A (p.Ala318Glu) single nucleotide variant Adenosine kinase deficiency [RCV000022443] Chr10:74670258 [GRCh38]
Chr10:76430016 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_006721.4(ADK):c.704A>C (p.Asp235Ala) single nucleotide variant Adenosine kinase deficiency [RCV000022444] Chr10:74525404 [GRCh38]
Chr10:76285162 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_006721.4(ADK):c.89G>A (p.Gly30Glu) single nucleotide variant Adenosine kinase deficiency [RCV000022445] Chr10:74200787 [GRCh38]
Chr10:75960545 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_006721.4(ADK):c.878-71T>C single nucleotide variant Adenosine kinase deficiency [RCV001549249]|not provided [RCV001673193] Chr10:74670112 [GRCh38]
Chr10:76429870 [GRCh37]
Chr10:10q22.2		 benign
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2		 pathogenic
GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1 copy number loss See cases [RCV000052531] Chr10:72720628..75612374 [GRCh38]
Chr10:74480386..77372132 [GRCh37]
Chr10:74150392..77042138 [NCBI36]
Chr10:10q22.1-22.2		 pathogenic
GRCh38/hg38 10q22.2(chr10:74263235-74468002)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052532]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052532]|See cases [RCV000052532] Chr10:74263235..74468002 [GRCh38]
Chr10:76022993..76227760 [GRCh37]
Chr10:75692999..75897766 [NCBI36]
Chr10:10q22.2		 pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2		 pathogenic
NM_006721.4(ADK):c.741T>A (p.Phe247Leu) single nucleotide variant Adenosine kinase deficiency [RCV001332841]|not provided [RCV000171178] Chr10:74589296 [GRCh38]
Chr10:76349054 [GRCh37]
Chr10:10q22.2		 likely pathogenic|uncertain significance
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3		 pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2		 pathogenic|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2		 pathogenic
GRCh38/hg38 10q22.2(chr10:74195087-74468002)x1 copy number loss See cases [RCV000138293] Chr10:74195087..74468002 [GRCh38]
Chr10:75954845..76227760 [GRCh37]
Chr10:75624851..75897766 [NCBI36]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.1022A>G (p.His341Arg) single nucleotide variant not provided [RCV000256208] Chr10:74708378 [GRCh38]
Chr10:76468136 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.*648C>T single nucleotide variant Adenosine kinase deficiency [RCV000307240]|not provided [RCV004718312] Chr10:74709093 [GRCh38]
Chr10:74709093..74709094 [GRCh38]
Chr10:76468851 [GRCh37]
Chr10:76468851..76468852 [GRCh37]
Chr10:10q22.2		 benign
NM_006721.4(ADK):c.220A>G (p.Lys74Glu) single nucleotide variant Adenosine kinase deficiency [RCV000331708]|not provided [RCV002520630] Chr10:74314692 [GRCh38]
Chr10:76074450 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.*375A>G single nucleotide variant Adenosine kinase deficiency [RCV000402780] Chr10:74708820 [GRCh38]
Chr10:76468578 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_006721.4(ADK):c.66-23911C>T single nucleotide variant Adenosine kinase deficiency [RCV000293153]|not provided [RCV001709579] Chr10:74176853 [GRCh38]
Chr10:75936611 [GRCh37]
Chr10:10q22.2		 benign
NM_006721.4(ADK):c.705T>C (p.Asp235=) single nucleotide variant Adenosine kinase deficiency [RCV000335386]|not provided [RCV001516925] Chr10:74525405 [GRCh38]
Chr10:76285163 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_006721.4(ADK):c.763-9T>C single nucleotide variant Adenosine kinase deficiency [RCV000338869] Chr10:74600370 [GRCh38]
Chr10:76360128 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.66-24106T>C single nucleotide variant Adenosine kinase deficiency [RCV000362746] Chr10:74176658 [GRCh38]
Chr10:75936416 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_006721.4(ADK):c.259A>G (p.Ile87Val) single nucleotide variant Adenosine kinase deficiency [RCV000388548]|not provided [RCV001850589] Chr10:74314731 [GRCh38]
Chr10:76074489 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.727-11T>C single nucleotide variant Adenosine kinase deficiency [RCV000281516]|not provided [RCV001518922] Chr10:74589271 [GRCh38]
Chr10:76349029 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_006721.4(ADK):c.*740C>T single nucleotide variant Adenosine kinase deficiency [RCV000364193] Chr10:74709185 [GRCh38]
Chr10:76468943 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_006721.4(ADK):c.726+11T>G single nucleotide variant Adenosine kinase deficiency [RCV000391986]|not provided [RCV002056131] Chr10:74525437 [GRCh38]
Chr10:76285195 [GRCh37]
Chr10:10q22.2		 benign|likely benign|uncertain significance
NM_006721.4(ADK):c.1088G>A (p.Ter363=) single nucleotide variant Adenosine kinase deficiency [RCV000391987]|not provided [RCV000963506] Chr10:74708444 [GRCh38]
Chr10:76468202 [GRCh37]
Chr10:10q22.2		 benign|likely benign|uncertain significance
NM_006721.4(ADK):c.66-24083G>C single nucleotide variant Adenosine kinase deficiency [RCV000270477] Chr10:74176681 [GRCh38]
Chr10:75936439 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.*157G>A single nucleotide variant Adenosine kinase deficiency [RCV000302761] Chr10:74708602 [GRCh38]
Chr10:76468360 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.66-23966T>C single nucleotide variant Adenosine kinase deficiency [RCV000384839] Chr10:74176798 [GRCh38]
Chr10:75936556 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.441C>T (p.Asp147=) single nucleotide variant Adenosine kinase deficiency [RCV000296601] Chr10:74394308 [GRCh38]
Chr10:76154066 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.66-24151A>T single nucleotide variant Adenosine kinase deficiency [RCV000324623] Chr10:74176613 [GRCh38]
Chr10:75936371 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.66-24009G>T single nucleotide variant Adenosine kinase deficiency [RCV000327935] Chr10:74176755 [GRCh38]
Chr10:75936513 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.*337T>G single nucleotide variant Adenosine kinase deficiency [RCV000359874] Chr10:74708782 [GRCh38]
Chr10:76468540 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.71A>T (p.Asn24Ile) single nucleotide variant Adenosine kinase deficiency [RCV001170034] Chr10:74200769 [GRCh38]
Chr10:75960527 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10q22.2-22.3(chr10:75542067-79428995)x1 copy number loss See cases [RCV000447510] Chr10:75542067..79428995 [GRCh37]
Chr10:10q22.2-22.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q22.2(chr10:75890021-76356834)x1 copy number loss See cases [RCV000510259] Chr10:75890021..76356834 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q22.2(chr10:75179409-76009153)x3 copy number gain See cases [RCV000511191] Chr10:75179409..76009153 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NM_006721.4(ADK):c.719A>G (p.Asn240Ser) single nucleotide variant Inborn genetic diseases [RCV003282622] Chr10:74525419 [GRCh38]
Chr10:76285177 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.195-18A>G single nucleotide variant Adenosine kinase deficiency [RCV002227173]|not provided [RCV000514007] Chr10:74314649 [GRCh38]
Chr10:76074407 [GRCh37]
Chr10:10q22.2		 benign|likely benign
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32		 pathogenic
GRCh37/hg19 10q22.2(chr10:75922676-76611753)x3 copy number gain not provided [RCV000737188] Chr10:75922676..76611753 [GRCh37]
Chr10:10q22.2		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_006721.4(ADK):c.410_412dup (p.Thr137_Gly138insAla) duplication not provided [RCV000994453] Chr10:74394276..74394277 [GRCh38]
Chr10:76154034..76154035 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.813dup (p.Asn272fs) duplication Adenosine kinase deficiency [RCV000985064] Chr10:74600428..74600429 [GRCh38]
Chr10:76360186..76360187 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_006721.4(ADK):c.141-5T>C single nucleotide variant not provided [RCV000914477] Chr10:74224533 [GRCh38]
Chr10:75984291 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.66-24133G>A single nucleotide variant Adenosine kinase deficiency [RCV001106869] Chr10:74176631 [GRCh38]
Chr10:75936389 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.*296G>A single nucleotide variant Adenosine kinase deficiency [RCV001104199] Chr10:74708741 [GRCh38]
Chr10:76468499 [GRCh37]
Chr10:10q22.2		 uncertain significance
NC_000010.10:g.(?_75936631)_(75936664_?)del deletion not provided [RCV003105425] Chr10:75936631..75936664 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.1048C>T (p.Arg350Trp) single nucleotide variant not provided [RCV003106762] Chr10:74708404 [GRCh38]
Chr10:76468162 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.726+114G>A single nucleotide variant not provided [RCV001682609] Chr10:74525540 [GRCh38]
Chr10:76285298 [GRCh37]
Chr10:10q22.2		 benign
NM_006721.4(ADK):c.65+175C>A single nucleotide variant not provided [RCV001650148] Chr10:74151518 [GRCh38]
Chr10:75911276 [GRCh37]
Chr10:10q22.2		 benign
NM_006721.4(ADK):c.965-9G>T single nucleotide variant not provided [RCV000949545] Chr10:74708312 [GRCh38]
Chr10:76468070 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.965-7G>T single nucleotide variant not provided [RCV000949546] Chr10:74708314 [GRCh38]
Chr10:76468072 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.66-23967G>T single nucleotide variant Adenosine kinase deficiency [RCV001107539] Chr10:74176797 [GRCh38]
Chr10:75936555 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.927T>C (p.Ile309=) single nucleotide variant not provided [RCV000933801] Chr10:74670232 [GRCh38]
Chr10:76429990 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.274-9G>T single nucleotide variant not provided [RCV000911305] Chr10:74394132 [GRCh38]
Chr10:76153890 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.987T>C (p.Ser329=) single nucleotide variant Adenosine kinase deficiency [RCV001104197]|not provided [RCV000889651] Chr10:74708343 [GRCh38]
Chr10:76468101 [GRCh37]
Chr10:10q22.2		 benign
NM_006721.4(ADK):c.727-8del deletion Adenosine kinase deficiency [RCV000988387]|not provided [RCV001522753] Chr10:74589263 [GRCh38]
Chr10:76349021 [GRCh37]
Chr10:10q22.2		 benign
NM_006721.4(ADK):c.1031C>T (p.Ala344Val) single nucleotide variant Adenosine kinase deficiency [RCV000988388] Chr10:74708387 [GRCh38]
Chr10:76468145 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_006721.4(ADK):c.447-52C>T single nucleotide variant not provided [RCV001710393] Chr10:74398419 [GRCh38]
Chr10:76158177 [GRCh37]
Chr10:10q22.2		 benign
NM_006721.4(ADK):c.429C>T (p.Cys143=) single nucleotide variant Adenosine kinase deficiency [RCV001103920]|not provided [RCV002556065] Chr10:74394296 [GRCh38]
Chr10:76154054 [GRCh37]
Chr10:10q22.2		 benign|likely benign|uncertain significance
NM_006721.4(ADK):c.494A>C (p.Lys165Thr) single nucleotide variant Adenosine kinase deficiency [RCV001103921] Chr10:74398518 [GRCh38]
Chr10:76158276 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.*349T>C single nucleotide variant Adenosine kinase deficiency [RCV001104200] Chr10:74708794 [GRCh38]
Chr10:76468552 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.*729T>G single nucleotide variant Adenosine kinase deficiency [RCV001106977] Chr10:74709174 [GRCh38]
Chr10:76468932 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.555+181T>C single nucleotide variant not provided [RCV001667975] Chr10:74398760 [GRCh38]
Chr10:76158518 [GRCh37]
Chr10:10q22.2		 benign
NM_006721.4(ADK):c.66-76A>T single nucleotide variant not provided [RCV001649970] Chr10:74200688 [GRCh38]
Chr10:75960446 [GRCh37]
Chr10:10q22.2		 benign
NM_006721.4(ADK):c.763-115T>C single nucleotide variant not provided [RCV001668867] Chr10:74600264 [GRCh38]
Chr10:76360022 [GRCh37]
Chr10:10q22.2		 benign
NM_006721.4(ADK):c.965-151dup duplication not provided [RCV001609437] Chr10:74708153..74708154 [GRCh38]
Chr10:76467911..76467912 [GRCh37]
Chr10:10q22.2		 benign
NM_006721.4(ADK):c.66-24289G>A single nucleotide variant Adenosine kinase deficiency [RCV001106868] Chr10:74176475 [GRCh38]
Chr10:75936233 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.66-23885T>A single nucleotide variant Adenosine kinase deficiency [RCV001107540]|not provided [RCV002556105] Chr10:74176879 [GRCh38]
Chr10:75936637 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.*114T>C single nucleotide variant Adenosine kinase deficiency [RCV001104198] Chr10:74708559 [GRCh38]
Chr10:76468317 [GRCh37]
Chr10:10q22.2		 uncertain significance
NC_000010.11:g.74151197G>C single nucleotide variant not provided [RCV001652714] Chr10:74151197 [GRCh38]
Chr10:75910955 [GRCh37]
Chr10:10q22.2		 benign
NM_006721.4(ADK):c.915C>G (p.Asp305Glu) single nucleotide variant not provided [RCV001915048] Chr10:74670220 [GRCh38]
Chr10:76429978 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.792G>C (p.Lys264Asn) single nucleotide variant not provided [RCV001909502] Chr10:74600408 [GRCh38]
Chr10:76360166 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.155C>T (p.Pro52Leu) single nucleotide variant not provided [RCV001909967] Chr10:74224552 [GRCh38]
Chr10:75984310 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) copy number loss not specified [RCV002052875] Chr10:68735254..78885714 [GRCh37]
Chr10:10q21.3-22.3		 pathogenic
NM_006721.4(ADK):c.620A>C (p.Asn207Thr) single nucleotide variant not provided [RCV001921939] Chr10:74525320 [GRCh38]
Chr10:76285078 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.917A>T (p.Gln306Leu) single nucleotide variant not provided [RCV001883349] Chr10:74670222 [GRCh38]
Chr10:76429980 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.938A>G (p.Asn313Ser) single nucleotide variant not provided [RCV001922769] Chr10:74670243 [GRCh38]
Chr10:76430001 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.195-16T>C single nucleotide variant not provided [RCV002148250] Chr10:74314651 [GRCh38]
Chr10:76074409 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.501T>A (p.Leu167=) single nucleotide variant not provided [RCV002191826] Chr10:74398525 [GRCh38]
Chr10:76158283 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.447-7G>T single nucleotide variant not provided [RCV002145145] Chr10:74398464 [GRCh38]
Chr10:76158222 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.556-3del deletion not provided [RCV002077430] Chr10:74525252 [GRCh38]
Chr10:76285010 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.66-23858C>T single nucleotide variant not provided [RCV002152418] Chr10:74176906 [GRCh38]
Chr10:75936664 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.556-6A>G single nucleotide variant ADK-related disorder [RCV003958697]|not provided [RCV002105550] Chr10:74525250 [GRCh38]
Chr10:76285008 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.273+10T>A single nucleotide variant ADK-related disorder [RCV003923697]|not provided [RCV002173576] Chr10:74314755 [GRCh38]
Chr10:76074513 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.727-8dup duplication not provided [RCV002118067] Chr10:74589262..74589263 [GRCh38]
Chr10:76349020..76349021 [GRCh37]
Chr10:10q22.2		 benign
NM_006721.4(ADK):c.140+20T>C single nucleotide variant not provided [RCV002141539] Chr10:74200858 [GRCh38]
Chr10:75960616 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.375G>C (p.Val125=) single nucleotide variant not provided [RCV002155123] Chr10:74394242 [GRCh38]
Chr10:76154000 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.195-17C>T single nucleotide variant not provided [RCV002198536] Chr10:74314650 [GRCh38]
Chr10:76074408 [GRCh37]
Chr10:10q22.2		 likely benign
NC_000010.10:g.(?_76349020)_(78317046_?)del deletion Genitopatellar syndrome [RCV003116587] Chr10:76349020..78317046 [GRCh37]
Chr10:10q22.2-22.3		 pathogenic
NC_000010.10:g.(?_75671314)_(79799964_?)dup duplication Genitopatellar syndrome [RCV003116588] Chr10:75671314..79799964 [GRCh37]
Chr10:10q22.2-22.3		 uncertain significance
NC_000010.10:g.(?_75936631)_(76468203_?)del deletion not provided [RCV003105424] Chr10:75936631..76468203 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_006721.4(ADK):c.79T>C (p.Phe27Leu) single nucleotide variant Adenosine kinase deficiency [RCV004785120] Chr10:74200777 [GRCh38]
Chr10:75960535 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.374T>C (p.Val125Ala) single nucleotide variant Adenosine kinase deficiency [RCV003152918] Chr10:74394241 [GRCh38]
Chr10:76153999 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.479G>T (p.Cys160Phe) single nucleotide variant Inborn genetic diseases [RCV002749791] Chr10:74398503 [GRCh38]
Chr10:76158261 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.434C>G (p.Thr145Ser) single nucleotide variant Inborn genetic diseases [RCV002794749] Chr10:74394301 [GRCh38]
Chr10:76154059 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.141-6A>T single nucleotide variant not provided [RCV002975050] Chr10:74224532 [GRCh38]
Chr10:75984290 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.390C>T (p.Tyr130=) single nucleotide variant not provided [RCV002994870] Chr10:74394257 [GRCh38]
Chr10:76154015 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.936C>T (p.Thr312=) single nucleotide variant not provided [RCV002571726] Chr10:74670241 [GRCh38]
Chr10:76429999 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.1049G>A (p.Arg350Gln) single nucleotide variant not provided [RCV002780678] Chr10:74708405 [GRCh38]
Chr10:76468163 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.78C>G (p.Leu26=) single nucleotide variant not provided [RCV002591638] Chr10:74200776 [GRCh38]
Chr10:75960534 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.21G>C (p.Glu7Asp) single nucleotide variant Inborn genetic diseases [RCV002661359] Chr10:74151299 [GRCh38]
Chr10:75911057 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.85A>G (p.Met29Val) single nucleotide variant Inborn genetic diseases [RCV002737158] Chr10:74200783 [GRCh38]
Chr10:75960541 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.93T>C (p.Asn31=) single nucleotide variant not provided [RCV002847015] Chr10:74200791 [GRCh38]
Chr10:75960549 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.679T>C (p.Leu227=) single nucleotide variant not provided [RCV003038976] Chr10:74525379 [GRCh38]
Chr10:76285137 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.426A>G (p.Ala142=) single nucleotide variant not provided [RCV002645598] Chr10:74394293 [GRCh38]
Chr10:76154051 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.222A>G (p.Lys74=) single nucleotide variant not provided [RCV002573746] Chr10:74314694 [GRCh38]
Chr10:76074452 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.247A>C (p.Thr83Pro) single nucleotide variant not provided [RCV003057336] Chr10:74314719 [GRCh38]
Chr10:76074477 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.762+17T>C single nucleotide variant not provided [RCV002627007] Chr10:74589334 [GRCh38]
Chr10:76349092 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.550A>G (p.Ile184Val) single nucleotide variant not provided [RCV003042583] Chr10:74398574 [GRCh38]
Chr10:76158332 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.727-18T>G single nucleotide variant not provided [RCV002829839] Chr10:74589264 [GRCh38]
Chr10:76349022 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.1012C>T (p.Arg338Cys) single nucleotide variant Inborn genetic diseases [RCV004067657]|not provided [RCV002701414] Chr10:74708368 [GRCh38]
Chr10:76468126 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.428G>A (p.Cys143Tyr) single nucleotide variant not provided [RCV003065965] Chr10:74394295 [GRCh38]
Chr10:76154053 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.157A>G (p.Asn53Asp) single nucleotide variant not provided [RCV002602041] Chr10:74224554 [GRCh38]
Chr10:75984312 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.564del (p.Thr190fs) deletion ADK-related disorder [RCV003427508]|not provided [RCV002811242] Chr10:74525259 [GRCh38]
Chr10:76285017 [GRCh37]
Chr10:10q22.2		 pathogenic|likely pathogenic
NM_006721.4(ADK):c.801C>T (p.Ala267=) single nucleotide variant ADK-related disorder [RCV004756404]|not provided [RCV002576707] Chr10:74600417 [GRCh38]
Chr10:76360175 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.1013G>A (p.Arg338His) single nucleotide variant not provided [RCV003087685] Chr10:74708369 [GRCh38]
Chr10:76468127 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.328_331del (p.Asp110fs) microsatellite not provided [RCV002898750] Chr10:74394191..74394194 [GRCh38]
Chr10:76153949..76153952 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_006721.4(ADK):c.865A>G (p.Ile289Val) single nucleotide variant Inborn genetic diseases [RCV002668532] Chr10:74600481 [GRCh38]
Chr10:76360239 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.195G>T (p.Leu65=) single nucleotide variant not provided [RCV003029729] Chr10:74314667 [GRCh38]
Chr10:76074425 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.195G>A (p.Leu65=) single nucleotide variant not provided [RCV002770306] Chr10:74314667 [GRCh38]
Chr10:76074425 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.678A>G (p.Ser226=) single nucleotide variant not provided [RCV002634672] Chr10:74525378 [GRCh38]
Chr10:76285136 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.772A>G (p.Ile258Val) single nucleotide variant not provided [RCV002589793] Chr10:74600388 [GRCh38]
Chr10:76360146 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.141-16C>T single nucleotide variant not provided [RCV002587266] Chr10:74224522 [GRCh38]
Chr10:75984280 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.1074G>A (p.Lys358=) single nucleotide variant not provided [RCV002611537] Chr10:74708430 [GRCh38]
Chr10:76468188 [GRCh37]
Chr10:10q22.2		 likely benign
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_006721.4(ADK):c.994C>T (p.Pro332Ser) single nucleotide variant Inborn genetic diseases [RCV003377444]|not provided [RCV003720874] Chr10:74708350 [GRCh38]
Chr10:76468108 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.277A>T (p.Met93Leu) single nucleotide variant Inborn genetic diseases [RCV003373817] Chr10:74394144 [GRCh38]
Chr10:76153902 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.631A>T (p.Thr211Ser) single nucleotide variant Inborn genetic diseases [RCV003347495] Chr10:74525331 [GRCh38]
Chr10:76285089 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.642_645del (p.Ser215fs) microsatellite Adenosine kinase deficiency [RCV003335920] Chr10:74525338..74525341 [GRCh38]
Chr10:76285096..76285099 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_006721.4(ADK):c.916C>T (p.Gln306Ter) single nucleotide variant Adenosine kinase deficiency [RCV003335921] Chr10:74670221 [GRCh38]
Chr10:76429979 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_006721.4(ADK):c.391G>A (p.Glu131Lys) single nucleotide variant not provided [RCV003872720] Chr10:74394258 [GRCh38]
Chr10:76154016 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
NM_006721.4(ADK):c.964+10211G>A single nucleotide variant not provided [RCV003417512] Chr10:74680480 [GRCh38]
Chr10:76440238 [GRCh37]
Chr10:10q22.2		 benign
NM_006721.4(ADK):c.1044T>C (p.Ile348=) single nucleotide variant not provided [RCV003417513] Chr10:74708400 [GRCh38]
Chr10:76468158 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.66-23860G>A single nucleotide variant not provided [RCV003689286] Chr10:74176904 [GRCh38]
Chr10:75936662 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.877+11G>A single nucleotide variant not provided [RCV003693015] Chr10:74600504 [GRCh38]
Chr10:76360262 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.315A>G (p.Gly105=) single nucleotide variant not provided [RCV003545941] Chr10:74394182 [GRCh38]
Chr10:76153940 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.66-3del deletion not provided [RCV003572764] Chr10:74200755 [GRCh38]
Chr10:75960513 [GRCh37]
Chr10:10q22.2		 benign
NM_006721.4(ADK):c.182A>G (p.Lys61Arg) single nucleotide variant not provided [RCV003580858] Chr10:74224579 [GRCh38]
Chr10:75984337 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.965-15T>A single nucleotide variant not provided [RCV003845367] Chr10:74708306 [GRCh38]
Chr10:76468064 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.965-10T>C single nucleotide variant not provided [RCV003820771] Chr10:74708311 [GRCh38]
Chr10:76468069 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.1063T>G (p.Phe355Val) single nucleotide variant not provided [RCV003844178] Chr10:74708419 [GRCh38]
Chr10:76468177 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.919A>G (p.Lys307Glu) single nucleotide variant Inborn genetic diseases [RCV004369217]|not provided [RCV003557286] Chr10:74670224 [GRCh38]
Chr10:76429982 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.763-8A>G single nucleotide variant not provided [RCV003870639] Chr10:74600371 [GRCh38]
Chr10:76360129 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.762+13A>G single nucleotide variant not provided [RCV003563606] Chr10:74589330 [GRCh38]
Chr10:76349088 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.651G>A (p.Pro217=) single nucleotide variant not provided [RCV003733256] Chr10:74525351 [GRCh38]
Chr10:76285109 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.462T>C (p.Asn154=) single nucleotide variant ADK-related disorder [RCV004756842] Chr10:74398486 [GRCh38]
Chr10:76158244 [GRCh37]
Chr10:10q22.2		 likely benign
NM_006721.4(ADK):c.34A>G (p.Lys12Glu) single nucleotide variant Inborn genetic diseases [RCV004385318] Chr10:74151312 [GRCh38]
Chr10:75911070 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.683T>C (p.Met228Thr) single nucleotide variant Inborn genetic diseases [RCV004385330] Chr10:74525383 [GRCh38]
Chr10:76285141 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_006721.4(ADK):c.901G>C (p.Val301Leu) single nucleotide variant Inborn genetic diseases [RCV004385337] Chr10:74670206 [GRCh38]
Chr10:76429964 [GRCh37]
Chr10:10q22.2		 uncertain significance
NC_000010.10:g.(?_76360117)_(76360271_?)dup duplication not provided [RCV004581729] Chr10:76360117..76360271 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_006721.4(ADK):c.754G>A (p.Gly252Ser) single nucleotide variant Inborn genetic diseases [RCV004624306] Chr10:74589309 [GRCh38]
Chr10:76349067 [GRCh37]
Chr10:10q22.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:790
Count of miRNA genes:428
Interacting mature miRNAs:453
Transcripts:ENST00000286621, ENST00000372734, ENST00000467840, ENST00000478611, ENST00000539909, ENST00000541550
Prediction methods: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
596960022GWAS1079541_Hglomerular filtration rate QTL GWAS1079541 (human)2e-18glomerular filtration rateglomerular filtration rate (CMO:0000490)107431901174319013Human
597316126GWAS1412200_Hsystolic blood pressure QTL GWAS1412200 (human)1e-13systolic blood pressuresystolic blood pressure (CMO:0000004)107443840574438407Human
597155731GWAS1251805_Hdiet measurement, apolipoprotein A 1 measurement QTL GWAS1251805 (human)0.000009diet measurement, apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)107460906574609066Human
597291932GWAS1388006_Hbody mass index QTL GWAS1388006 (human)3e-12body mass indexbody mass index (BMI) (CMO:0000105)107437400474374005Human
597316509GWAS1412583_Hdiastolic blood pressure, systolic blood pressure QTL GWAS1412583 (human)2e-08diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)107427250474272505Human
597101200GWAS1197274_Hdiverticular disease QTL GWAS1197274 (human)0.000003diverticular disease107430096074300961Human
597052444GWAS1148518_Hcardiovascular disease QTL GWAS1148518 (human)8e-08cardiovascular disease107426186674261867Human
596952223GWAS1071742_Hhypertension QTL GWAS1071742 (human)7e-10hypertension107466145874661459Human
597357590GWAS1453664_Hbody height QTL GWAS1453664 (human)4e-14body height (VT:0001253)body height (CMO:0000106)107417475174174752Human
597167381GWAS1263455_Hfacial morphology measurement QTL GWAS1263455 (human)7e-09facial morphology trait (VT:0003743)107459832974598330Human
597196040GWAS1292114_Hglomerular filtration rate QTL GWAS1292114 (human)2e-18glomerular filtration rateglomerular filtration rate (CMO:0000490)107431901174319013Human
597308809GWAS1404883_Hglomerular filtration rate QTL GWAS1404883 (human)3e-13glomerular filtration rateglomerular filtration rate (CMO:0000490)107427033074270331Human
597305870GWAS1401944_Hplatelet count QTL GWAS1401944 (human)2e-08platelet quantity (VT:0003179)platelet count (CMO:0000029)107423015474230155Human
597618184GWAS1675044_Hbody weight QTL GWAS1675044 (human)3e-11body mass (VT:0001259)body weight (CMO:0000012)107453603174536032Human
597060864GWAS1156938_Hmetabolic syndrome QTL GWAS1156938 (human)5e-10metabolic syndrome107466145874661459Human
597084940GWAS1181014_Hplatelet count QTL GWAS1181014 (human)4e-17platelet quantity (VT:0003179)platelet count (CMO:0000029)107419461774194618Human
596960271GWAS1079790_Hglomerular filtration rate QTL GWAS1079790 (human)2e-16glomerular filtration rateglomerular filtration rate (CMO:0000490)107431901174319013Human
597349383GWAS1445457_Helectrocardiography QTL GWAS1445457 (human)2e-11electrocardiography107426527774265278Human
596968117GWAS1087636_Hsystolic blood pressure QTL GWAS1087636 (human)1e-13systolic blood pressuresystolic blood pressure (CMO:0000004)107443840574438407Human
597612222GWAS1669082_Hbody weight QTL GWAS1669082 (human)8e-27body mass (VT:0001259)body weight (CMO:0000012)107453603174536032Human
597193401GWAS1289475_Hglomerular filtration rate QTL GWAS1289475 (human)2e-16glomerular filtration rateglomerular filtration rate (CMO:0000490)107431901174319013Human
597181758GWAS1277832_Hbody mass index QTL GWAS1277832 (human)3e-10body mass indexbody mass index (BMI) (CMO:0000105)107464040674640407Human
407012330GWAS661306_Hplatelet count QTL GWAS661306 (human)8e-16platelet quantity (VT:0003179)platelet count (CMO:0000029)107419461774194618Human
597326515GWAS1422589_Hcoronary artery calcification QTL GWAS1422589 (human)0.000001coronary artery calcification107420508874205089Human
597594295GWAS1651155_Hbody mass index QTL GWAS1651155 (human)3e-16body mass indexbody mass index (BMI) (CMO:0000105)107421353674213537Human
597308851GWAS1404925_Hblood urea nitrogen measurement QTL GWAS1404925 (human)4e-11blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)107427033074270331Human
597594167GWAS1651027_Hbody mass index QTL GWAS1651027 (human)2e-26body mass indexbody mass index (BMI) (CMO:0000105)107453603174536032Human
597114300GWAS1210374_Hdrug use measurement QTL GWAS1210374 (human)4e-08drug use measurement107465438974654390Human
597180083GWAS1276157_Hbody mass index QTL GWAS1276157 (human)1e-14body mass indexbody mass index (BMI) (CMO:0000105)107466398174663982Human
597181749GWAS1277823_Hbody mass index QTL GWAS1277823 (human)4e-12body mass indexbody mass index (BMI) (CMO:0000105)107428770674287707Human
596959289GWAS1078808_Hglomerular filtration rate QTL GWAS1078808 (human)6e-12glomerular filtration rateglomerular filtration rate (CMO:0000490)107431901174319013Human
596955195GWAS1074714_Hbody mass index QTL GWAS1074714 (human)3e-12body mass indexbody mass index (BMI) (CMO:0000105)107437400474374005Human
597342376GWAS1438450_Hbody mass index QTL GWAS1438450 (human)8e-11body mass indexbody mass index (BMI) (CMO:0000105)107429520374295204Human
597342377GWAS1438451_Hbody mass index QTL GWAS1438451 (human)3e-11body mass indexbody mass index (BMI) (CMO:0000105)107460334974603350Human
597290017GWAS1386091_Hblood urea nitrogen measurement QTL GWAS1386091 (human)7e-18blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)107419509074195091Human
597026988GWAS1123062_Hbody mass index QTL GWAS1123062 (human)1e-12body mass indexbody mass index (BMI) (CMO:0000105)107428770674287707Human
597195170GWAS1291244_Hglomerular filtration rate QTL GWAS1291244 (human)6e-12glomerular filtration rateglomerular filtration rate (CMO:0000490)107431901174319013Human
597066412GWAS1162486_Hsusceptibility to Mycobacterium tuberculosis infection measurement QTL GWAS1162486 (human)0.000004susceptibility to Mycobacterium tuberculosis infection measurement107470918574709186Human
597311393GWAS1407467_Hbody mass index QTL GWAS1407467 (human)5e-08body mass indexbody mass index (BMI) (CMO:0000105)107437400474374005Human
597211043GWAS1307117_Hpelvic organ prolapse QTL GWAS1307117 (human)4e-08pelvic organ prolapse107460906574609066Human
597292966GWAS1389040_Hhypertension QTL GWAS1389040 (human)7e-10hypertension107466145874661459Human
597100499GWAS1196573_Hbody height QTL GWAS1196573 (human)3e-11body height (VT:0001253)body height (CMO:0000106)107432435374324354Human
597178332GWAS1274406_Hbody mass index QTL GWAS1274406 (human)2e-12body mass indexbody mass index (BMI) (CMO:0000105)107442057774420578Human
597202270GWAS1298344_Hpregnancy disorder QTL GWAS1298344 (human)0.000003pregnancy disorder107428518774285188Human
597113168GWAS1209242_Hplatelet count QTL GWAS1209242 (human)2e-10platelet quantity (VT:0003179)platelet count (CMO:0000029)107424769774247698Human
407218191GWAS867167_Hlymphocyte count QTL GWAS867167 (human)1e-10lymphocyte countblood lymphocyte count (CMO:0000031)107470909374709094Human
407024782GWAS673758_Hodontogenesis QTL GWAS673758 (human)8e-16odontogenesis107453603174536032Human
597350089GWAS1446163_Helectrocardiography QTL GWAS1446163 (human)3e-11electrocardiography107445451774454518Human
407024791GWAS673767_Htooth eruption QTL GWAS673767 (human)2e-08tooth eruption107453603174536032Human
597199310GWAS1295384_Hbody mass index QTL GWAS1295384 (human)3e-10body mass indexbody mass index (BMI) (CMO:0000105)107429520374295204Human
596976717GWAS1096236_Hbody mass index QTL GWAS1096236 (human)5e-08body mass indexbody mass index (BMI) (CMO:0000105)107437400474374005Human
597101134GWAS1197208_Hbody mass index QTL GWAS1197208 (human)1e-11body mass indexbody mass index (BMI) (CMO:0000105)107429520374295204Human
597101133GWAS1197207_Hbody mass index QTL GWAS1197207 (human)4e-11body mass indexbody mass index (BMI) (CMO:0000105)107466398174663982Human
597594434GWAS1651294_Hbody mass index QTL GWAS1651294 (human)2e-23body mass indexbody mass index (BMI) (CMO:0000105)107421353674213537Human
597308998GWAS1405072_Hcreatinine measurement QTL GWAS1405072 (human)3e-11creatinine measurementblood creatinine measurement (CMO:0000767)107431229074312293Human
406962076GWAS611052_Hhypospadias QTL GWAS611052 (human)0.0000001hypospadias107464040674640407Human
596961268GWAS1080787_Hmetabolic syndrome QTL GWAS1080787 (human)3e-08metabolic syndrome107428770674287707Human
597058804GWAS1154878_HFEV/FVC ratio QTL GWAS1154878 (human)6e-11FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)107448379174483792Human
596961270GWAS1080789_Hmetabolic syndrome QTL GWAS1080789 (human)5e-10metabolic syndrome107466145874661459Human
597151220GWAS1247294_Hnumber of teeth measurement QTL GWAS1247294 (human)4e-17number of teeth measurement107453603174536032Human
597601274GWAS1658134_Hbody mass index QTL GWAS1658134 (human)4e-11body mass indexbody mass index (BMI) (CMO:0000105)107421353674213537Human
597316735GWAS1412809_Hglomerular filtration rate QTL GWAS1412809 (human)0.0000003glomerular filtration rateglomerular filtration rate (CMO:0000490)107427033074270331Human
597330940GWAS1427014_Hbody mass index QTL GWAS1427014 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)107418567674185677Human
597060863GWAS1156937_Hmetabolic syndrome QTL GWAS1156937 (human)3e-08metabolic syndrome107428770674287707Human
597172081GWAS1268155_Hbody mass index QTL GWAS1268155 (human)2e-10body mass indexbody mass index (BMI) (CMO:0000105)107434136474341365Human
597093496GWAS1189570_Hsoluble interleukin-2 receptor subunit alpha measurement QTL GWAS1189570 (human)0.000008soluble interleukin-2 receptor subunit alpha measurement107419291274192913Human
597607536GWAS1664396_Hbody weight QTL GWAS1664396 (human)1e-17body mass (VT:0001259)body weight (CMO:0000012)107453603174536032Human
597144568GWAS1240642_Hbody mass index QTL GWAS1240642 (human)3e-08body mass indexbody mass index (BMI) (CMO:0000105)107422322474223225Human
407024429GWAS673405_Htooth eruption QTL GWAS673405 (human)6e-18tooth eruption107453603174536032Human
597327594GWAS1423668_Hcoronary artery calcification QTL GWAS1423668 (human)4e-08coronary artery calcification107415767374157674Human
597137766GWAS1233840_Hdiastolic blood pressure, systolic blood pressure QTL GWAS1233840 (human)0.000008diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)107427250474272505Human
597327595GWAS1423669_Hcoronary artery calcification QTL GWAS1423669 (human)6e-09coronary artery calcification107447274874472749Human
597056098GWAS1152172_Hadolescent idiopathic scoliosis QTL GWAS1152172 (human)1e-10adolescent idiopathic scoliosis107427265374272654Human
597275117GWAS1371191_Hage-related hearing impairment QTL GWAS1371191 (human)9e-10age-related hearing impairment107435617974356180Human
597033825GWAS1129899_Hsystolic blood pressure QTL GWAS1129899 (human)3e-13systolic blood pressuresystolic blood pressure (CMO:0000004)107422639974226400Human
597609705GWAS1666565_Hbody weight QTL GWAS1666565 (human)8e-31body mass (VT:0001259)body weight (CMO:0000012)107453603174536032Human
597497572GWAS1593646_Hhip geometry QTL GWAS1593646 (human)2e-08hip geometryhip circumference (CMO:0000014)107419175174191752Human
597026671GWAS1122745_Hbody mass index QTL GWAS1122745 (human)3e-12body mass indexbody mass index (BMI) (CMO:0000105)107460334974603350Human
596964970GWAS1084489_Hdiet measurement, apolipoprotein A 1 measurement QTL GWAS1084489 (human)0.000009diet measurement, apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)107460906574609066Human

Markers in Region
D10S535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371076,340,748 - 76,340,852UniSTSGRCh37
Build 361076,010,754 - 76,010,858RGDNCBI36
Celera1069,626,866 - 69,626,970RGD
Cytogenetic Map10q11-q24UniSTS
Cytogenetic Map10q22UniSTS
HuRef1070,336,875 - 70,336,979UniSTS
Marshfield Genetic Map1094.48RGD
Genethon Genetic Map1096.9UniSTS
TNG Radiation Hybrid Map1038014.0UniSTS
deCODE Assembly Map1094.02UniSTS
Stanford-G3 RH Map103494.0UniSTS
GeneMap99-GB4 RH Map10381.17UniSTS
NCBI RH Map10932.9UniSTS
GeneMap99-G3 RH Map103470.0UniSTS
STS-U50196  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371076,468,207 - 76,468,358UniSTSGRCh37
Build 361076,138,213 - 76,138,364RGDNCBI36
Celera1069,754,506 - 69,754,657RGD
Cytogenetic Map10q11-q24UniSTS
Cytogenetic Map10q22UniSTS
HuRef1070,464,669 - 70,464,820UniSTS
GeneMap99-GB4 RH Map10379.77UniSTS
NCBI RH Map10922.4UniSTS
RH66362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371075,929,187 - 75,929,351UniSTSGRCh37
Build 361075,599,193 - 75,599,357RGDNCBI36
Celera1069,214,868 - 69,215,032RGD
Cytogenetic Map10q11-q24UniSTS
Cytogenetic Map10q22UniSTS
HuRef1069,924,584 - 69,924,748UniSTS
GeneMap99-GB4 RH Map10380.97UniSTS
RH1569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371076,435,514 - 76,435,687UniSTSGRCh37
Build 361076,105,520 - 76,105,693RGDNCBI36
Celera1069,721,822 - 69,721,995RGD
Cytogenetic Map10q11-q24UniSTS
Cytogenetic Map10q22UniSTS
HuRef1070,431,978 - 70,432,151UniSTS
GeneMap99-GB4 RH Map10380.87UniSTS
D10S2150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371075,914,479 - 75,914,671UniSTSGRCh37
GRCh371075,914,482 - 75,914,650UniSTSGRCh37
Build 361075,584,488 - 75,584,656RGDNCBI36
Celera1069,199,794 - 69,199,986UniSTS
Celera1069,199,797 - 69,199,965RGD
Cytogenetic Map10q22UniSTS
Cytogenetic Map10q11-q24UniSTS
HuRef1069,909,782 - 69,909,974UniSTS
HuRef1069,909,785 - 69,909,953UniSTS
Stanford-G3 RH Map103385.0UniSTS
GeneMap99-G3 RH Map103361.0UniSTS
A009X23  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371076,287,476 - 76,287,576UniSTSGRCh37
Build 361075,957,482 - 75,957,582RGDNCBI36
Celera1069,573,587 - 69,573,687UniSTS
Celera1058,661,839 - 58,661,940RGD
Cytogenetic Map10q11-q24UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22UniSTS
HuRef1070,283,735 - 70,283,835UniSTS
GeneMap99-GB4 RH Map10377.6UniSTS
SHGC-147556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371076,183,297 - 76,183,596UniSTSGRCh37
Build 361075,853,303 - 75,853,602RGDNCBI36
Celera1069,469,264 - 69,469,563RGD
Cytogenetic Map10q11-q24UniSTS
Cytogenetic Map10q22UniSTS
HuRef1070,179,558 - 70,179,857UniSTS
TNG Radiation Hybrid Map1037986.0UniSTS
STS-AA010164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371076,052,735 - 76,052,920UniSTSGRCh37
Build 361075,722,741 - 75,722,926RGDNCBI36
Celera1069,338,653 - 69,338,838RGD
Cytogenetic Map10q11-q24UniSTS
Cytogenetic Map10q22UniSTS
HuRef1070,048,986 - 70,049,171UniSTS
GeneMap99-GB4 RH Map10379.87UniSTS
RH70656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371076,468,236 - 76,468,425UniSTSGRCh37
Build 361076,138,242 - 76,138,431RGDNCBI36
Celera1069,754,535 - 69,754,724RGD
Cytogenetic Map10q11-q24UniSTS
Cytogenetic Map10q22UniSTS
HuRef1070,464,698 - 70,464,887UniSTS
GeneMap99-GB4 RH Map10381.07UniSTS
SHGC-132142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371075,914,479 - 75,914,691UniSTSGRCh37
Build 361075,584,485 - 75,584,697RGDNCBI36
Celera1069,199,794 - 69,200,006RGD
Cytogenetic Map10q11-q24UniSTS
Cytogenetic Map10q22UniSTS
HuRef1069,909,782 - 69,909,994UniSTS
TNG Radiation Hybrid Map1016161.0UniSTS
WI-11741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371076,468,150 - 76,468,276UniSTSGRCh37
Build 361076,138,156 - 76,138,282RGDNCBI36
Celera1069,754,449 - 69,754,575RGD
Cytogenetic Map10q11-q24UniSTS
Cytogenetic Map10q22UniSTS
HuRef1070,464,612 - 70,464,738UniSTS
GeneMap99-GB4 RH Map10383.37UniSTS
Whitehead-RH Map10461.1UniSTS
SHGC-32599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371076,250,558 - 76,250,692UniSTSGRCh37
Build 361075,920,564 - 75,920,698RGDNCBI36
Celera1069,536,670 - 69,536,804RGD
Cytogenetic Map10q11-q24UniSTS
Cytogenetic Map10q22UniSTS
HuRef1070,246,818 - 70,246,952UniSTS
Stanford-G3 RH Map103488.0UniSTS
GeneMap99-GB4 RH Map10380.87UniSTS
Whitehead-RH Map10459.9UniSTS
NCBI RH Map10932.2UniSTS
GeneMap99-G3 RH Map103464.0UniSTS
SHGC-34979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371076,086,060 - 76,086,186UniSTSGRCh37
Build 361075,756,066 - 75,756,192RGDNCBI36
Celera1069,372,034 - 69,372,160RGD
Cytogenetic Map10q11-q24UniSTS
Cytogenetic Map10q22UniSTS
HuRef1070,082,346 - 70,082,472UniSTS
GeneMap99-GB4 RH Map10381.17UniSTS
Whitehead-RH Map10459.8UniSTS
GeneMap99-G3 RH Map103457.0UniSTS
IB2229  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371075,929,176 - 75,929,353UniSTSGRCh37
Build 361075,599,182 - 75,599,359RGDNCBI36
Celera1069,214,857 - 69,215,034RGD
Cytogenetic Map10q11-q24UniSTS
Cytogenetic Map10q22UniSTS
HuRef1069,924,573 - 69,924,750UniSTS
GeneMap99-GB4 RH Map10382.39UniSTS
Whitehead-RH Map10459.9UniSTS
NCBI RH Map10922.4UniSTS
D10S2218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371076,442,846 - 76,443,095UniSTSGRCh37
Build 361076,112,852 - 76,113,101RGDNCBI36
Celera1069,729,153 - 69,729,402RGD
Cytogenetic Map10q11-q24UniSTS
Cytogenetic Map10q22UniSTS
HuRef1070,439,313 - 70,439,562UniSTS
Whitehead-RH Map10459.9UniSTS
Whitehead-YAC Contig Map10 UniSTS
RH46197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371076,171,428 - 76,171,580UniSTSGRCh37
Build 361075,841,434 - 75,841,586RGDNCBI36
Celera1069,457,394 - 69,457,546RGD
Cytogenetic Map10q11-q24UniSTS
Cytogenetic Map10q22UniSTS
HuRef1070,167,687 - 70,167,839UniSTS
GeneMap99-GB4 RH Map10381.26UniSTS
G19645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371075,929,157 - 75,929,283UniSTSGRCh37
Build 361075,599,163 - 75,599,289RGDNCBI36
Celera1069,214,838 - 69,214,964RGD
Cytogenetic Map10q11-q24UniSTS
Cytogenetic Map10q22UniSTS
HuRef1069,924,554 - 69,924,680UniSTS
A001U01  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371075,929,157 - 75,929,283UniSTSGRCh37
Build 361075,599,163 - 75,599,289RGDNCBI36
Celera1069,214,838 - 69,214,964RGD
Cytogenetic Map10q11-q24UniSTS
Cytogenetic Map10q22UniSTS
HuRef1069,924,554 - 69,924,680UniSTS
GeneMap99-GB4 RH Map10380.97UniSTS
G32946  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371076,287,476 - 76,287,576UniSTSGRCh37
Celera1069,573,587 - 69,573,687UniSTS
Celera1058,661,839 - 58,661,940UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map10q11-q24UniSTS
HuRef1070,283,735 - 70,283,835UniSTS
D10S2150  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q22UniSTS
Cytogenetic Map10q11-q24UniSTS
Stanford-G3 RH Map103481.0UniSTS
GeneMap99-G3 RH Map103457.0UniSTS


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 2438 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001202449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001202450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF283990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI188809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI608983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL731576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BJ989861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM472149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB133126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA356691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U33936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U50196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U90338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U90339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000286621   ⟹   ENSP00000286621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,151,224 - 74,708,820 (+)Ensembl
Ensembl Acc Id: ENST00000372734   ⟹   ENSP00000361819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,176,763 - 74,709,290 (+)Ensembl
Ensembl Acc Id: ENST00000467840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,525,364 - 74,528,299 (+)Ensembl
Ensembl Acc Id: ENST00000478611   ⟹   ENSP00000500114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,151,235 - 74,224,593 (+)Ensembl
Ensembl Acc Id: ENST00000539909   ⟹   ENSP00000443965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,151,221 - 74,709,290 (+)Ensembl
Ensembl Acc Id: ENST00000541550   ⟹   ENSP00000438321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,176,770 - 74,708,934 (+)Ensembl
Ensembl Acc Id: ENST00000661461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,675,767 - 74,680,608 (+)Ensembl
Ensembl Acc Id: ENST00000672394   ⟹   ENSP00000500390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,176,652 - 74,708,681 (+)Ensembl
Ensembl Acc Id: ENST00000672429   ⟹   ENSP00000500292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,151,202 - 74,708,699 (+)Ensembl
Ensembl Acc Id: ENST00000672604   ⟹   ENSP00000499911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,314,733 - 74,708,549 (+)Ensembl
Ensembl Acc Id: ENST00000672920   ⟹   ENSP00000500141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,176,584 - 74,708,644 (+)Ensembl
Ensembl Acc Id: ENST00000673027   ⟹   ENSP00000500201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,176,763 - 74,708,539 (+)Ensembl
Ensembl Acc Id: ENST00000673310   ⟹   ENSP00000500097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,176,551 - 74,709,963 (+)Ensembl
Ensembl Acc Id: ENST00000673352   ⟹   ENSP00000500056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,151,240 - 74,709,926 (+)Ensembl
RefSeq Acc Id: NM_001123   ⟹   NP_001114
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,176,763 - 74,709,290 (+)NCBI
GRCh371075,910,943 - 76,469,061 (+)ENTREZGENE
Build 361075,606,450 - 76,139,066 (+)NCBI Archive
HuRef1069,906,246 - 70,465,523 (+)ENTREZGENE
CHM1_11076,218,236 - 76,750,970 (+)NCBI
T2T-CHM13v2.01075,048,143 - 75,580,765 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001202449   ⟹   NP_001189378
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,176,763 - 74,709,290 (+)NCBI
GRCh371075,910,943 - 76,469,061 (+)ENTREZGENE
HuRef1069,906,246 - 70,465,523 (+)ENTREZGENE
CHM1_11076,218,236 - 76,750,970 (+)NCBI
T2T-CHM13v2.01075,048,143 - 75,580,765 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001202450   ⟹   NP_001189379
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,151,221 - 74,709,290 (+)NCBI
GRCh371075,910,943 - 76,469,061 (+)ENTREZGENE
HuRef1069,906,246 - 70,465,523 (+)ENTREZGENE
CHM1_11076,192,927 - 76,750,970 (+)NCBI
T2T-CHM13v2.01075,022,606 - 75,580,765 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001369123   ⟹   NP_001356052
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,151,221 - 74,709,290 (+)NCBI
T2T-CHM13v2.01075,022,606 - 75,580,765 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001369124   ⟹   NP_001356053
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,176,763 - 74,709,290 (+)NCBI
T2T-CHM13v2.01075,048,143 - 75,580,765 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006721   ⟹   NP_006712
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,151,221 - 74,709,290 (+)NCBI
GRCh371075,910,943 - 76,469,061 (+)NCBI
Build 361075,580,971 - 76,139,066 (+)NCBI Archive
HuRef1069,906,246 - 70,465,523 (+)ENTREZGENE
CHM1_11076,192,927 - 76,750,970 (+)NCBI
T2T-CHM13v2.01075,022,606 - 75,580,765 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015698   ⟹   XP_016871187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,151,221 - 74,602,917 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015699   ⟹   XP_016871188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,356,292 - 74,709,290 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015702   ⟹   XP_016871191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,176,763 - 74,709,290 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015703   ⟹   XP_016871192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,380,952 - 74,709,290 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015704   ⟹   XP_016871193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,151,221 - 74,536,190 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015705   ⟹   XP_016871194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,151,221 - 74,709,290 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015706   ⟹   XP_016871195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,176,763 - 74,536,190 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047424620   ⟹   XP_047280576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,176,763 - 74,602,917 (+)NCBI
RefSeq Acc Id: XM_047424621   ⟹   XP_047280577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,176,763 - 74,709,290 (+)NCBI
RefSeq Acc Id: XM_054364821   ⟹   XP_054220796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,022,606 - 75,474,390 (+)NCBI
RefSeq Acc Id: XM_054364822   ⟹   XP_054220797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,048,143 - 75,474,390 (+)NCBI
RefSeq Acc Id: XM_054364823   ⟹   XP_054220798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,227,655 - 75,580,765 (+)NCBI
RefSeq Acc Id: XM_054364824   ⟹   XP_054220799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,048,143 - 75,580,765 (+)NCBI
RefSeq Acc Id: XM_054364825   ⟹   XP_054220800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,252,290 - 75,580,765 (+)NCBI
RefSeq Acc Id: XM_054364826   ⟹   XP_054220801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,022,606 - 75,411,928 (+)NCBI
RefSeq Acc Id: XM_054364827   ⟹   XP_054220802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,022,606 - 75,580,765 (+)NCBI
RefSeq Acc Id: XM_054364828   ⟹   XP_054220803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,048,143 - 75,411,928 (+)NCBI
RefSeq Acc Id: XM_054364829   ⟹   XP_054220804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,048,143 - 75,580,765 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001114 (Get FASTA)   NCBI Sequence Viewer  
  NP_001189378 (Get FASTA)   NCBI Sequence Viewer  
  NP_001189379 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356052 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356053 (Get FASTA)   NCBI Sequence Viewer  
  NP_006712 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871187 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871188 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871191 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871192 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871193 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871194 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871195 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280576 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280577 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220796 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220797 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220798 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220799 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220800 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220801 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220802 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220803 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220804 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA97893 (Get FASTA)   NCBI Sequence Viewer  
  AAB01689 (Get FASTA)   NCBI Sequence Viewer  
  AAB50234 (Get FASTA)   NCBI Sequence Viewer  
  AAB50235 (Get FASTA)   NCBI Sequence Viewer  
  AAG13958 (Get FASTA)   NCBI Sequence Viewer  
  AAH03568 (Get FASTA)   NCBI Sequence Viewer  
  AAP35434 (Get FASTA)   NCBI Sequence Viewer  
  AEE60927 (Get FASTA)   NCBI Sequence Viewer  
  BAF83322 (Get FASTA)   NCBI Sequence Viewer  
  BAH13519 (Get FASTA)   NCBI Sequence Viewer  
  BAH13786 (Get FASTA)   NCBI Sequence Viewer  
  EAW54555 (Get FASTA)   NCBI Sequence Viewer  
  EAW54556 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000286621.3
  ENSP00000361819
  ENSP00000361819.3
  ENSP00000438321.2
  ENSP00000443965
  ENSP00000443965.2
  ENSP00000499911.1
  ENSP00000500056
  ENSP00000500056.1
  ENSP00000500097
  ENSP00000500097.1
  ENSP00000500114.1
  ENSP00000500141.1
  ENSP00000500201
  ENSP00000500201.1
  ENSP00000500292
  ENSP00000500292.1
  ENSP00000500390
  ENSP00000500390.1
GenBank Protein P55263 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_006712   ⟸   NM_006721
- Peptide Label: isoform b
- UniProtKB: P55263 (UniProtKB/Swiss-Prot),   Q5JQ11 (UniProtKB/Swiss-Prot),   Q5JQ10 (UniProtKB/Swiss-Prot),   Q16710 (UniProtKB/Swiss-Prot),   O00742 (UniProtKB/Swiss-Prot),   O00741 (UniProtKB/Swiss-Prot),   B7Z800 (UniProtKB/Swiss-Prot),   B7Z783 (UniProtKB/Swiss-Prot),   Q9BTN2 (UniProtKB/Swiss-Prot),   Q86U79 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001189379   ⟸   NM_001202450
- Peptide Label: isoform d
- UniProtKB: Q86U79 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001114   ⟸   NM_001123
- Peptide Label: isoform a
- UniProtKB: Q86U79 (UniProtKB/TrEMBL),   A0A140VJE0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001189378   ⟸   NM_001202449
- Peptide Label: isoform c
- UniProtKB: Q86U79 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871194   ⟸   XM_017015705
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016871187   ⟸   XM_017015698
- Peptide Label: isoform X1
- UniProtKB: A0A5K1VW54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871193   ⟸   XM_017015704
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016871191   ⟸   XM_017015702
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016871195   ⟸   XM_017015706
- Peptide Label: isoform X8
- UniProtKB: A0A5F9ZH72 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871188   ⟸   XM_017015699
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016871192   ⟸   XM_017015703
- Peptide Label: isoform X5
- UniProtKB: A0A5F9ZHJ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001356052   ⟸   NM_001369123
- Peptide Label: isoform e
- UniProtKB: A0A5F9ZH31 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356053   ⟸   NM_001369124
- Peptide Label: isoform f
- UniProtKB: Q86U79 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000500201   ⟸   ENST00000673027
Ensembl Acc Id: ENSP00000438321   ⟸   ENST00000541550
Ensembl Acc Id: ENSP00000500056   ⟸   ENST00000673352
Ensembl Acc Id: ENSP00000500097   ⟸   ENST00000673310
Ensembl Acc Id: ENSP00000500114   ⟸   ENST00000478611
Ensembl Acc Id: ENSP00000361819   ⟸   ENST00000372734
Ensembl Acc Id: ENSP00000286621   ⟸   ENST00000286621
Ensembl Acc Id: ENSP00000443965   ⟸   ENST00000539909
Ensembl Acc Id: ENSP00000499911   ⟸   ENST00000672604
Ensembl Acc Id: ENSP00000500292   ⟸   ENST00000672429
Ensembl Acc Id: ENSP00000500390   ⟸   ENST00000672394
Ensembl Acc Id: ENSP00000500141   ⟸   ENST00000672920
RefSeq Acc Id: XP_047280577   ⟸   XM_047424621
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047280576   ⟸   XM_047424620
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220802   ⟸   XM_054364827
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054220796   ⟸   XM_054364821
- Peptide Label: isoform X1
- UniProtKB: A0A5K1VW54 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220801   ⟸   XM_054364826
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054220799   ⟸   XM_054364824
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054220804   ⟸   XM_054364829
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054220797   ⟸   XM_054364822
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220803   ⟸   XM_054364828
- Peptide Label: isoform X8
- UniProtKB: A0A5F9ZH72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220798   ⟸   XM_054364823
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054220800   ⟸   XM_054364825
- Peptide Label: isoform X5
- UniProtKB: A0A5F9ZHJ1 (UniProtKB/TrEMBL)
Protein Domains
Carbohydrate kinase PfkB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P55263-F1-model_v2 AlphaFold P55263 1-362 view protein structure

Promoters
RGD ID:7217899
Promoter ID:EPDNEW_H14695
Type:initiation region
Name:ADK_2
Description:adenosine kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14696  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,151,221 - 74,151,281EPDNEW
RGD ID:7217901
Promoter ID:EPDNEW_H14696
Type:initiation region
Name:ADK_1
Description:adenosine kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14695  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,176,763 - 74,176,823EPDNEW
RGD ID:6787348
Promoter ID:HG_KWN:10117
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006721,   NM_012095,   NM_207012,   OTTHUMT00000048750,   OTTHUMT00000048766,   UC001JWF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361075,580,446 - 75,581,157 (-)MPROMDB
RGD ID:6787322
Promoter ID:HG_KWN:10118
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000048765
Position:
Human AssemblyChrPosition (strand)Source
Build 361075,606,074 - 75,606,574 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:257 AgrOrtholog
COSMIC ADK COSMIC
Ensembl Genes ENSG00000156110 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000286621.7 UniProtKB/TrEMBL
  ENST00000372734 ENTREZGENE
  ENST00000372734.5 UniProtKB/Swiss-Prot
  ENST00000478611.2 UniProtKB/TrEMBL
  ENST00000539909 ENTREZGENE
  ENST00000539909.6 UniProtKB/Swiss-Prot
  ENST00000541550.6 UniProtKB/TrEMBL
  ENST00000672394 ENTREZGENE
  ENST00000672394.1 UniProtKB/TrEMBL
  ENST00000672429 ENTREZGENE
  ENST00000672429.1 UniProtKB/Swiss-Prot
  ENST00000672604.1 UniProtKB/TrEMBL
  ENST00000672920.1 UniProtKB/TrEMBL
  ENST00000673027 ENTREZGENE
  ENST00000673027.1 UniProtKB/Swiss-Prot
  ENST00000673310 ENTREZGENE
  ENST00000673310.1 UniProtKB/TrEMBL
  ENST00000673352 ENTREZGENE
  ENST00000673352.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.1110.10 UniProtKB/TrEMBL
  3.40.1190.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000156110 GTEx
HGNC ID HGNC:257 ENTREZGENE
Human Proteome Map ADK Human Proteome Map
InterPro Adenokinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Carboh/pur_kinase_PfkB_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PfkB_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribokinase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:132 UniProtKB/Swiss-Prot
NCBI Gene 132 ENTREZGENE
OMIM 102750 OMIM
PANTHER ADENOSINE KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR45769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PfkB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24579 PharmGKB
PRINTS ADENOKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  F138DOMAIN UniProtKB/TrEMBL
PROSITE PFKB_KINASES_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53613 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VJE0 ENTREZGENE, UniProtKB/TrEMBL
  A0A5F9ZGZ8_HUMAN UniProtKB/TrEMBL
  A0A5F9ZH31 ENTREZGENE, UniProtKB/TrEMBL
  A0A5F9ZH72 ENTREZGENE, UniProtKB/TrEMBL
  A0A5F9ZH76_HUMAN UniProtKB/TrEMBL
  A0A5F9ZH83_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHJ1 ENTREZGENE, UniProtKB/TrEMBL
  A0A5K1VW54 ENTREZGENE, UniProtKB/TrEMBL
  A0A5K1VW94_HUMAN UniProtKB/TrEMBL
  ADK_HUMAN UniProtKB/Swiss-Prot
  B7Z783 ENTREZGENE
  B7Z800 ENTREZGENE
  O00741 ENTREZGENE
  O00742 ENTREZGENE
  P55263 ENTREZGENE
  Q16710 ENTREZGENE
  Q5JQ10 ENTREZGENE
  Q5JQ11 ENTREZGENE
  Q86U79 ENTREZGENE, UniProtKB/TrEMBL
  Q9BTN2 ENTREZGENE
UniProt Secondary B7Z783 UniProtKB/Swiss-Prot
  B7Z800 UniProtKB/Swiss-Prot
  O00741 UniProtKB/Swiss-Prot
  O00742 UniProtKB/Swiss-Prot
  Q16710 UniProtKB/Swiss-Prot
  Q5JQ10 UniProtKB/Swiss-Prot
  Q5JQ11 UniProtKB/Swiss-Prot
  Q9BTN2 UniProtKB/Swiss-Prot