ADIPOR1 (adiponectin receptor 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: ADIPOR1 (adiponectin receptor 1) Homo sapiens
Analyze
Symbol: ADIPOR1
Name: adiponectin receptor 1
RGD ID: 1344545
HGNC Page HGNC:24040
Description: Enables adipokinetic hormone receptor activity; adiponectin binding activity; and protein kinase binding activity. Involved in several processes, including adiponectin-activated signaling pathway; negative regulation of epithelial to mesenchymal transition; and negative regulation of signal transduction. Located in plasma membrane. Implicated in breast cancer; macular degeneration; and prostate adenocarcinoma. Biomarker of obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACDCR1; adiponectin receptor protein 1; CGI-45; CGI45; FLJ25385; FLJ42464; PAQR1; progestin and adipoQ receptor family member 1; progestin and adipoQ receptor family member I; TESBP1A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: ADIPOR1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381202,940,825 - 202,958,572 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1202,940,826 - 202,958,572 (-)EnsemblGRCh38hg38GRCh38
GRCh371202,909,953 - 202,927,700 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361201,176,576 - 201,194,034 (-)NCBINCBI36Build 36hg18NCBI36
Build 341199,641,610 - 199,659,068NCBI
Celera1176,039,207 - 176,056,946 (-)NCBICelera
Cytogenetic Map1q32.1ENTREZGENE
HuRef1174,075,616 - 174,093,389 (-)NCBIHuRef
CHM1_11204,332,195 - 204,349,939 (-)NCBICHM1_1
T2T-CHM13v2.01202,203,545 - 202,221,296 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component
membrane  (HDA,IEA)
plasma membrane  (IBA,IDA,IEA,TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Adiponectin receptors gene expression in lymphocytes of obese and anorexic patients. Alberti L, etal., Diabetes Obes Metab. 2007 May;9(3):344-9.
2. Maternal docosahexaenoic acid increases adiponectin and normalizes IUGR-induced changes in rat adipose deposition. Bagley HN, etal., J Obes. 2013;2013:312153. doi: 10.1155/2013/312153. Epub 2013 Mar 6.
3. Expression of the adiponectin receptors AdipoR1 and AdipoR2 in lean rats and in obese Zucker rats. Beylot M, etal., Metabolism. 2006 Mar;55(3):396-401.
4. Hyperglycemia- and hyperinsulinemia-induced alteration of adiponectin receptor expression and adiponectin effects in L6 myoblasts. Fang X, etal., J Mol Endocrinol. 2005 Dec;35(3):465-76.
5. Role of adiponectin receptors in endothelin-induced cellular hypertrophy in cultured cardiomyocytes and their expression in infarcted heart. Fujioka D, etal., Am J Physiol Heart Circ Physiol. 2006 Jun;290(6):H2409-16. Epub 2006 Jan 13.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. [Relationship between adiponectin receptor 1 gene -3881T/C variant and glucose metabolism in the Chinese] Hu C, etal., Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Feb;24(1):27-30.
8. Adiponectin receptor 1 gene (ADIPOR1) variant is associated with advanced age-related macular degeneration in Finnish population. Kaarniranta K, etal., Neurosci Lett. 2012 Apr 4;513(2):233-7. doi: 10.1016/j.neulet.2012.02.050. Epub 2012 Feb 25.
9. Adiponectin and adiponectin receptors in insulin resistance, diabetes, and the metabolic syndrome. Kadowaki T, etal., J Clin Invest. 2006 Jul;116(7):1784-92.
10. Polymorphisms of ADIPOQ and ADIPOR1 and prostate cancer risk. Kaklamani V, etal., Metabolism. 2011 Sep;60(9):1234-43. doi: 10.1016/j.metabol.2011.01.005. Epub 2011 Mar 12.
11. Variants of the adiponectin and adiponectin receptor 1 genes and breast cancer risk. Kaklamani VG, etal., Cancer Res. 2008 May 1;68(9):3178-84. doi: 10.1158/0008-5472.CAN-08-0533.
12. Analysis of the association between adiponectin, adiponectin receptor 1 and diabetic cardiomyopathy. Li J, etal., Exp Ther Med. 2014 Apr;7(4):1023-1027. Epub 2014 Feb 12.
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. No association between polymorphisms in LEP, LEPR, ADIPOQ, ADIPOR1, or ADIPOR2 and postmenopausal breast cancer risk. Teras LR, etal., Cancer Epidemiol Biomarkers Prev. 2009 Sep;18(9):2553-7. doi: 10.1158/1055-9965.EPI-09-0542. Epub 2009 Sep 1.
15. Cloning of adiponectin receptors that mediate antidiabetic metabolic effects. Yamauchi T, etal., Nature 2003 Jun 12;423(6941):762-9.
16. Changes of adiponectin and its receptors in rats following chronic renal failure. Yu Y, etal., Ren Fail. 2014 Feb;36(1):92-7. doi: 10.3109/0886022X.2013.830975. Epub 2013 Sep 13.
Additional References at PubMed
PMID:8125298   PMID:10810093   PMID:12477932   PMID:14651988   PMID:14702039   PMID:15105989   PMID:15277397   PMID:15331527   PMID:15454091   PMID:15489334   PMID:15757860   PMID:15918014  
PMID:15983228   PMID:16023994   PMID:16043761   PMID:16044242   PMID:16139921   PMID:16205883   PMID:16344560   PMID:16443913   PMID:16505255   PMID:16601138   PMID:16609881   PMID:16622416  
PMID:16678125   PMID:16700915   PMID:16724230   PMID:16793963   PMID:16899222   PMID:16955209   PMID:17001470   PMID:17003341   PMID:17006986   PMID:17054465   PMID:17118803   PMID:17123704  
PMID:17207965   PMID:17209173   PMID:17216283   PMID:17416799   PMID:17426101   PMID:17459059   PMID:17697862   PMID:17712104   PMID:17716299   PMID:17878241   PMID:17911635   PMID:18097620  
PMID:18163210   PMID:18294218   PMID:18310295   PMID:18313838   PMID:18466348   PMID:18548168   PMID:18599322   PMID:18622492   PMID:18660489   PMID:18713296   PMID:18719649   PMID:18827209  
PMID:18842004   PMID:18854016   PMID:18923878   PMID:18982021   PMID:18988888   PMID:18996102   PMID:18996753   PMID:19010305   PMID:19037660   PMID:19051043   PMID:19109202   PMID:19120283  
PMID:19144434   PMID:19196212   PMID:19208777   PMID:19233263   PMID:19322201   PMID:19453261   PMID:19487733   PMID:19524379   PMID:19536175   PMID:19549705   PMID:19631916   PMID:19671624  
PMID:19672024   PMID:19727342   PMID:19887569   PMID:19909601   PMID:19913121   PMID:19946888   PMID:19948975   PMID:20032495   PMID:20059631   PMID:20071013   PMID:20074551   PMID:20120899  
PMID:20125105   PMID:20129487   PMID:20332107   PMID:20336470   PMID:20432444   PMID:20470935   PMID:20628086   PMID:20682687   PMID:20696134   PMID:20697428   PMID:20712903   PMID:20875820  
PMID:20938443   PMID:20952631   PMID:21150319   PMID:21195057   PMID:21273992   PMID:21284833   PMID:21289205   PMID:21321996   PMID:21331343   PMID:21351255   PMID:21538348   PMID:21632074  
PMID:21749709   PMID:21750988   PMID:21761356   PMID:21873635   PMID:21900123   PMID:21960694   PMID:21980131   PMID:21988832   PMID:22049178   PMID:22050309   PMID:22078265   PMID:22082804  
PMID:22087284   PMID:22106445   PMID:22186245   PMID:22227293   PMID:22265003   PMID:22340319   PMID:22495003   PMID:22534793   PMID:22633650   PMID:22658674   PMID:22767440   PMID:22842631  
PMID:22907586   PMID:23255609   PMID:23293232   PMID:23351195   PMID:23355630   PMID:23358237   PMID:23358721   PMID:23386639   PMID:23388528   PMID:23500159   PMID:23656997   PMID:23756394  
PMID:23762377   PMID:23776679   PMID:23813974   PMID:23860143   PMID:23860432   PMID:23922112   PMID:23922494   PMID:23971629   PMID:24096711   PMID:24104889   PMID:24335000   PMID:24531262  
PMID:24619866   PMID:24673523   PMID:24888493   PMID:24967709   PMID:24969908   PMID:25049200   PMID:25126860   PMID:25261236   PMID:25292021   PMID:25392268   PMID:25475722   PMID:25516230  
PMID:25575462   PMID:25582653   PMID:25586350   PMID:25640309   PMID:25640382   PMID:25855295   PMID:25892445   PMID:26047008   PMID:26111083   PMID:26146630   PMID:26160610   PMID:26186194  
PMID:26459399   PMID:26631404   PMID:26638075   PMID:26741812   PMID:26921438   PMID:27075719   PMID:27288489   PMID:27294143   PMID:27655171   PMID:27768592   PMID:28327197   PMID:28329765  
PMID:28402446   PMID:28514442   PMID:28539268   PMID:29117863   PMID:29145541   PMID:29190778   PMID:29330340   PMID:29761507   PMID:29912982   PMID:30816311   PMID:30816670   PMID:30890562  
PMID:31401413   PMID:31871319   PMID:32000405   PMID:32296183   PMID:32750056   PMID:32796916   PMID:33555532   PMID:33562295   PMID:33845483   PMID:33851685   PMID:33961781   PMID:34079125  
PMID:35733794   PMID:36429712   PMID:36527105   PMID:38063230  


Genomics

Comparative Map Data
ADIPOR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381202,940,825 - 202,958,572 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1202,940,826 - 202,958,572 (-)EnsemblGRCh38hg38GRCh38
GRCh371202,909,953 - 202,927,700 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361201,176,576 - 201,194,034 (-)NCBINCBI36Build 36hg18NCBI36
Build 341199,641,610 - 199,659,068NCBI
Celera1176,039,207 - 176,056,946 (-)NCBICelera
Cytogenetic Map1q32.1ENTREZGENE
HuRef1174,075,616 - 174,093,389 (-)NCBIHuRef
CHM1_11204,332,195 - 204,349,939 (-)NCBICHM1_1
T2T-CHM13v2.01202,203,545 - 202,221,296 (-)NCBIT2T-CHM13v2.0
Adipor1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391134,343,116 - 134,361,089 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1134,343,116 - 134,361,089 (+)EnsemblGRCm39 Ensembl
GRCm381134,415,378 - 134,433,351 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1134,415,378 - 134,433,351 (+)EnsemblGRCm38mm10GRCm38
MGSCv371136,312,044 - 136,328,918 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361136,231,878 - 136,248,752 (+)NCBIMGSCv36mm8
Celera1137,022,451 - 137,039,305 (+)NCBICelera
Cytogenetic Map1E4NCBI
cM Map158.22NCBI
Adipor1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81348,411,438 - 48,431,251 (+)NCBIGRCr8
mRatBN7.21345,859,461 - 45,879,248 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1345,859,533 - 45,879,241 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1348,467,214 - 48,486,442 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01349,755,284 - 49,774,510 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01347,020,164 - 47,038,858 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01351,240,470 - 51,260,233 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1351,240,911 - 51,260,228 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01356,297,143 - 56,316,898 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41347,358,625 - 47,379,565 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11347,372,667 - 47,393,605 (+)NCBI
Celera1346,187,909 - 46,207,055 (+)NCBICelera
Cytogenetic Map13q13NCBI
Adipor1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540638,936,588 - 38,955,352 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540638,939,167 - 38,955,647 (-)NCBIChiLan1.0ChiLan1.0
ADIPOR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2146,419,719 - 46,437,276 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1146,386,741 - 46,404,296 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01178,542,496 - 178,560,055 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11182,837,589 - 182,854,749 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1182,837,589 - 182,854,782 (-)Ensemblpanpan1.1panPan2
ADIPOR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.17240,035 - 254,287 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl7240,065 - 282,845 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha7294,939 - 308,904 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.07249,755 - 263,729 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl7249,707 - 293,556 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.17238,441 - 252,403 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.07347,515 - 361,478 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.07370,491 - 384,457 (+)NCBIUU_Cfam_GSD_1.0
Adipor1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934472,423,786 - 72,440,118 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365671,658,383 - 1,676,199 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365671,658,405 - 1,674,794 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADIPOR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1024,907,491 - 24,915,686 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11024,907,491 - 24,923,540 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21029,265,675 - 29,281,715 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ADIPOR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12526,445,993 - 26,462,346 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2526,453,242 - 26,462,549 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605527,222,681 - 27,239,402 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Adipor1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248077,896,508 - 7,912,088 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADIPOR1
146 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11		 pathogenic
GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1 copy number loss See cases [RCV000133625] Chr1:200144603..203112078 [GRCh38]
Chr1:200113731..203081206 [GRCh37]
Chr1:198380354..201347829 [NCBI36]
Chr1:1q32.1		 pathogenic
NM_015999.6(ADIPOR1):c.31del (p.Gln11fs) deletion not provided [RCV000254571] Chr1:202951040 [GRCh38]
Chr1:202920168 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q32.1(chr1:202789375-203058390)x3 copy number gain not provided [RCV000684688] Chr1:202789375..203058390 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q32.1(chr1:202604386-202912995)x3 copy number gain not provided [RCV000736832] Chr1:202604386..202912995 [GRCh37]
Chr1:1q32.1		 benign
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41		 pathogenic
GRCh37/hg19 1q32.1(chr1:202542202-203108963)x3 copy number gain not provided [RCV000749330] Chr1:202542202..203108963 [GRCh37]
Chr1:1q32.1		 benign
NM_015999.6(ADIPOR1):c.835G>A (p.Val279Ile) single nucleotide variant not provided [RCV001043936] Chr1:202942189 [GRCh38]
Chr1:202911317 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.805+8G>A single nucleotide variant not provided [RCV001050503] Chr1:202943750 [GRCh38]
Chr1:202912878 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_015999.6(ADIPOR1):c.604C>T (p.Arg202Trp) single nucleotide variant not provided [RCV001047270] Chr1:202944996 [GRCh38]
Chr1:202914124 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.955G>A (p.Ala319Thr) single nucleotide variant not provided [RCV001043330] Chr1:202942069 [GRCh38]
Chr1:202911197 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_015999.6(ADIPOR1):c.259G>A (p.Val87Ile) single nucleotide variant not provided [RCV001054494] Chr1:202946610 [GRCh38]
Chr1:202915738 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.752T>C (p.Ile251Thr) single nucleotide variant not provided [RCV001210439] Chr1:202943811 [GRCh38]
Chr1:202912939 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.127G>A (p.Ala43Thr) single nucleotide variant not provided [RCV001226151] Chr1:202950944 [GRCh38]
Chr1:202920072 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.132C>T (p.Asn44=) single nucleotide variant not provided [RCV000955275] Chr1:202950939 [GRCh38]
Chr1:202920067 [GRCh37]
Chr1:1q32.1		 benign
NM_015999.6(ADIPOR1):c.251T>G (p.Val84Gly) single nucleotide variant not provided [RCV001230845] Chr1:202948311 [GRCh38]
Chr1:202917439 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2		 not provided
NM_015999.6(ADIPOR1):c.577G>A (p.Val193Ile) single nucleotide variant not provided [RCV001228845] Chr1:202945023 [GRCh38]
Chr1:202914151 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.674A>T (p.Tyr225Phe) single nucleotide variant not provided [RCV001337533] Chr1:202943889 [GRCh38]
Chr1:202913017 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.867G>A (p.Glu289=) single nucleotide variant not provided [RCV001359123] Chr1:202942157 [GRCh38]
Chr1:202911285 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_015999.6(ADIPOR1):c.1016T>C (p.Ile339Thr) single nucleotide variant not provided [RCV001359277] Chr1:202941685 [GRCh38]
Chr1:202910813 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_015999.6(ADIPOR1):c.35G>A (p.Gly12Glu) single nucleotide variant not provided [RCV001346380] Chr1:202951036 [GRCh38]
Chr1:202920164 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.128C>T (p.Ala43Val) single nucleotide variant not provided [RCV001344079] Chr1:202950943 [GRCh38]
Chr1:202920071 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.928T>A (p.Tyr310Asn) single nucleotide variant not provided [RCV001347376] Chr1:202942096 [GRCh38]
Chr1:202911224 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.71C>G (p.Thr24Arg) single nucleotide variant not provided [RCV001317957] Chr1:202951000 [GRCh38]
Chr1:202920128 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.970C>T (p.Arg324Cys) single nucleotide variant not provided [RCV001373004] Chr1:202942054 [GRCh38]
Chr1:202911182 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.98T>A (p.Leu33Gln) single nucleotide variant not provided [RCV001307293] Chr1:202950973 [GRCh38]
Chr1:202920101 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.486C>T (p.Tyr162=) single nucleotide variant not provided [RCV001504694] Chr1:202945114 [GRCh38]
Chr1:202914242 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.984A>G (p.Gly328=) single nucleotide variant not provided [RCV001491191] Chr1:202942040 [GRCh38]
Chr1:202911168 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.714C>T (p.Tyr238=) single nucleotide variant not provided [RCV001439215] Chr1:202943849 [GRCh38]
Chr1:202912977 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.435C>T (p.Phe145=) single nucleotide variant not provided [RCV001477111] Chr1:202945165 [GRCh38]
Chr1:202914293 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.885C>G (p.Thr295=) single nucleotide variant not provided [RCV001518361] Chr1:202942139 [GRCh38]
Chr1:202911267 [GRCh37]
Chr1:1q32.1		 benign
NM_015999.6(ADIPOR1):c.252G>T (p.Val84=) single nucleotide variant not provided [RCV001446012] Chr1:202948310 [GRCh38]
Chr1:202917438 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.1002C>T (p.Phe334=) single nucleotide variant not provided [RCV001399895] Chr1:202941699 [GRCh38]
Chr1:202910827 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.846C>T (p.Thr282=) single nucleotide variant not provided [RCV001415540] Chr1:202942178 [GRCh38]
Chr1:202911306 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.558C>T (p.Phe186=) single nucleotide variant not provided [RCV001401356] Chr1:202945042 [GRCh38]
Chr1:202914170 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.806-8C>T single nucleotide variant not provided [RCV001408535] Chr1:202942226 [GRCh38]
Chr1:202911354 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.1000-14T>A single nucleotide variant not provided [RCV001493805] Chr1:202941715 [GRCh38]
Chr1:202910843 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.591A>G (p.Ser197=) single nucleotide variant not provided [RCV001503009] Chr1:202945009 [GRCh38]
Chr1:202914137 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.474A>G (p.Arg158=) single nucleotide variant not provided [RCV001502737] Chr1:202945126 [GRCh38]
Chr1:202914254 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.430+12G>A single nucleotide variant not provided [RCV001518689] Chr1:202946427 [GRCh38]
Chr1:202915555 [GRCh37]
Chr1:1q32.1		 benign
NM_015999.6(ADIPOR1):c.822T>C (p.Leu274=) single nucleotide variant Retinal dystrophy [RCV003888237]|not provided [RCV001509940] Chr1:202942202 [GRCh38]
Chr1:202911330 [GRCh37]
Chr1:1q32.1		 benign
NM_015999.6(ADIPOR1):c.759G>A (p.Ala253=) single nucleotide variant not provided [RCV001457579] Chr1:202943804 [GRCh38]
Chr1:202912932 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.126C>T (p.Ile42=) single nucleotide variant not provided [RCV001429152] Chr1:202950945 [GRCh38]
Chr1:202920073 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.225C>T (p.His75=) single nucleotide variant not provided [RCV001406634] Chr1:202948337 [GRCh38]
Chr1:202917465 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.770G>A (p.Arg257Gln) single nucleotide variant not provided [RCV001889081] Chr1:202943793 [GRCh38]
Chr1:202912921 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.808G>A (p.Val270Met) single nucleotide variant not provided [RCV002025559] Chr1:202942216 [GRCh38]
Chr1:202911344 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_202920038)_(202920198_?)dup duplication not provided [RCV001988026] Chr1:202920038..202920198 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.617+6T>C single nucleotide variant not provided [RCV002023705] Chr1:202944977 [GRCh38]
Chr1:202914105 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.272G>A (p.Arg91His) single nucleotide variant not provided [RCV001872981] Chr1:202946597 [GRCh38]
Chr1:202915725 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.71C>T (p.Thr24Met) single nucleotide variant not provided [RCV001886804] Chr1:202951000 [GRCh38]
Chr1:202920128 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.1090G>A (p.Gly364Ser) single nucleotide variant not provided [RCV002017945] Chr1:202941611 [GRCh38]
Chr1:202910739 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.862G>A (p.Ala288Thr) single nucleotide variant not provided [RCV001942428] Chr1:202942162 [GRCh38]
Chr1:202911290 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.258+3A>T single nucleotide variant not provided [RCV001973591] Chr1:202948301 [GRCh38]
Chr1:202917429 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.258+3A>G single nucleotide variant not provided [RCV002037566] Chr1:202948301 [GRCh38]
Chr1:202917429 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.705del (p.Leu236fs) deletion not provided [RCV001995108] Chr1:202943858 [GRCh38]
Chr1:202912986 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.175G>A (p.Glu59Lys) single nucleotide variant not provided [RCV001930154] Chr1:202948387 [GRCh38]
Chr1:202917515 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.388C>T (p.Arg130Cys) single nucleotide variant not provided [RCV001876920] Chr1:202946481 [GRCh38]
Chr1:202915609 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.314A>G (p.Lys105Arg) single nucleotide variant not provided [RCV001990477] Chr1:202946555 [GRCh38]
Chr1:202915683 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.1034T>A (p.Val345Glu) single nucleotide variant not provided [RCV001990571] Chr1:202941667 [GRCh38]
Chr1:202910795 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.929A>G (p.Tyr310Cys) single nucleotide variant not provided [RCV001898734] Chr1:202942095 [GRCh38]
Chr1:202911223 [GRCh37]
Chr1:1q32.1		 pathogenic|uncertain significance
NM_015999.6(ADIPOR1):c.475C>T (p.Pro159Ser) single nucleotide variant not provided [RCV001990849] Chr1:202945125 [GRCh38]
Chr1:202914253 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.282_294del (p.Ile95fs) deletion not provided [RCV001877284] Chr1:202946575..202946587 [GRCh38]
Chr1:202915703..202915715 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.1101C>T (p.Gly367=) single nucleotide variant not provided [RCV001923410] Chr1:202941600 [GRCh38]
Chr1:202910728 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_015999.6(ADIPOR1):c.160T>C (p.Cys54Arg) single nucleotide variant not provided [RCV002048963] Chr1:202948402 [GRCh38]
Chr1:202917530 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.431-3C>T single nucleotide variant not provided [RCV001905663] Chr1:202945172 [GRCh38]
Chr1:202914300 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.670C>T (p.Leu224Phe) single nucleotide variant not provided [RCV001951624] Chr1:202943893 [GRCh38]
Chr1:202913021 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.121G>A (p.Val41Ile) single nucleotide variant not provided [RCV001996476] Chr1:202950950 [GRCh38]
Chr1:202920078 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.320A>G (p.Asn107Ser) single nucleotide variant not provided [RCV001959276] Chr1:202946549 [GRCh38]
Chr1:202915677 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.887C>G (p.Thr296Arg) single nucleotide variant not provided [RCV001995825] Chr1:202942137 [GRCh38]
Chr1:202911265 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.698A>G (p.Gln233Arg) single nucleotide variant not provided [RCV001935207] Chr1:202943865 [GRCh38]
Chr1:202912993 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.1089C>T (p.Tyr363=) single nucleotide variant not provided [RCV002088455] Chr1:202941612 [GRCh38]
Chr1:202910740 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.552C>T (p.Leu184=) single nucleotide variant not provided [RCV002125649] Chr1:202945048 [GRCh38]
Chr1:202914176 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.1041A>G (p.Ala347=) single nucleotide variant not provided [RCV002146639] Chr1:202941660 [GRCh38]
Chr1:202910788 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.615C>T (p.Ser205=) single nucleotide variant not provided [RCV002189061] Chr1:202944985 [GRCh38]
Chr1:202914113 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.1000-5T>C single nucleotide variant not provided [RCV002187042] Chr1:202941706 [GRCh38]
Chr1:202910834 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.462G>A (p.Leu154=) single nucleotide variant not provided [RCV002165253] Chr1:202945138 [GRCh38]
Chr1:202914266 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.108G>A (p.Glu36=) single nucleotide variant not provided [RCV002164884] Chr1:202950963 [GRCh38]
Chr1:202920091 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.999+17C>T single nucleotide variant not provided [RCV002124404] Chr1:202942008 [GRCh38]
Chr1:202911136 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.195G>A (p.Arg65=) single nucleotide variant not provided [RCV002192264] Chr1:202948367 [GRCh38]
Chr1:202917495 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.72G>A (p.Thr24=) single nucleotide variant not provided [RCV002131951] Chr1:202950999 [GRCh38]
Chr1:202920127 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.618-14G>A single nucleotide variant not provided [RCV002133610] Chr1:202943959 [GRCh38]
Chr1:202913087 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.805+19G>A single nucleotide variant not provided [RCV002116437] Chr1:202943739 [GRCh38]
Chr1:202912867 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.723C>T (p.Ile241=) single nucleotide variant not provided [RCV002171174] Chr1:202943840 [GRCh38]
Chr1:202912968 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.969G>A (p.Glu323=) single nucleotide variant not provided [RCV002193214] Chr1:202942055 [GRCh38]
Chr1:202911183 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.711C>A (p.Ile237=) single nucleotide variant not provided [RCV002114967] Chr1:202943852 [GRCh38]
Chr1:202912980 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.420C>T (p.Thr140=) single nucleotide variant not provided [RCV002173420] Chr1:202946449 [GRCh38]
Chr1:202915577 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.696A>G (p.Pro232=) single nucleotide variant not provided [RCV002199750] Chr1:202943867 [GRCh38]
Chr1:202912995 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.431-18dup duplication not provided [RCV002141199] Chr1:202945186..202945187 [GRCh38]
Chr1:202914314..202914315 [GRCh37]
Chr1:1q32.1		 benign
NM_015999.6(ADIPOR1):c.258+15C>A single nucleotide variant not provided [RCV002221072] Chr1:202948289 [GRCh38]
Chr1:202917417 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.321C>T (p.Asn107=) single nucleotide variant not provided [RCV002136646] Chr1:202946548 [GRCh38]
Chr1:202915676 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.447C>G (p.Leu149=) single nucleotide variant not provided [RCV002099531] Chr1:202945153 [GRCh38]
Chr1:202914281 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.259-20A>G single nucleotide variant not provided [RCV002154632] Chr1:202946630 [GRCh38]
Chr1:202915758 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.105A>G (p.Glu35=) single nucleotide variant not provided [RCV002177649] Chr1:202950966 [GRCh38]
Chr1:202920094 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.259-14T>C single nucleotide variant not provided [RCV002161800] Chr1:202946624 [GRCh38]
Chr1:202915752 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.471C>G (p.Leu157=) single nucleotide variant not provided [RCV002180441] Chr1:202945129 [GRCh38]
Chr1:202914257 [GRCh37]
Chr1:1q32.1		 likely benign
NC_000001.10:g.(?_200522516)_(206945780_?)dup duplication Epilepsy, familial adult myoclonic, 5 [RCV003116306] Chr1:200522516..206945780 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_202910701)_(202920198_?)dup duplication not provided [RCV003119695] Chr1:202910701..202920198 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_200522516)_(208391267_?)dup duplication Hypokalemic periodic paralysis, type 1 [RCV003119239]|not provided [RCV003119240] Chr1:200522516..208391267 [GRCh37]
Chr1:1q32.1-32.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_015999.6(ADIPOR1):c.376A>C (p.Lys126Gln) single nucleotide variant not provided [RCV002305261] Chr1:202946493 [GRCh38]
Chr1:202915621 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.319A>G (p.Asn107Asp) single nucleotide variant not provided [RCV002299924] Chr1:202946550 [GRCh38]
Chr1:202915678 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.389G>A (p.Arg130His) single nucleotide variant not provided [RCV002972157] Chr1:202946480 [GRCh38]
Chr1:202915608 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.483G>A (p.Met161Ile) single nucleotide variant not provided [RCV002816059] Chr1:202945117 [GRCh38]
Chr1:202914245 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.943G>A (p.Gly315Ser) single nucleotide variant not provided [RCV003014911] Chr1:202942081 [GRCh38]
Chr1:202911209 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.1000-17del deletion not provided [RCV002636124] Chr1:202941718 [GRCh38]
Chr1:202910846 [GRCh37]
Chr1:1q32.1		 benign
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3		 pathogenic
NM_015999.6(ADIPOR1):c.431-9C>G single nucleotide variant not provided [RCV002861618] Chr1:202945178 [GRCh38]
Chr1:202914306 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.617+14A>G single nucleotide variant not provided [RCV003034415] Chr1:202944969 [GRCh38]
Chr1:202914097 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.141+3A>T single nucleotide variant not provided [RCV002889448] Chr1:202950927 [GRCh38]
Chr1:202920055 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.246G>A (p.Glu82=) single nucleotide variant not provided [RCV003019171] Chr1:202948316 [GRCh38]
Chr1:202917444 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.258+10A>G single nucleotide variant not provided [RCV003020036] Chr1:202948294 [GRCh38]
Chr1:202917422 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.684C>T (p.Phe228=) single nucleotide variant not provided [RCV002736286] Chr1:202943879 [GRCh38]
Chr1:202913007 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.445C>T (p.Leu149Phe) single nucleotide variant not provided [RCV003019697] Chr1:202945155 [GRCh38]
Chr1:202914283 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.917T>C (p.Met306Thr) single nucleotide variant not provided [RCV002569494] Chr1:202942107 [GRCh38]
Chr1:202911235 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.606G>C (p.Arg202=) single nucleotide variant not provided [RCV002575218] Chr1:202944994 [GRCh38]
Chr1:202914122 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.703C>T (p.Arg235Trp) single nucleotide variant not provided [RCV002597391] Chr1:202943860 [GRCh38]
Chr1:202912988 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV002851916] Chr1:202951069 [GRCh38]
Chr1:202920197 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.1000-4A>G single nucleotide variant not provided [RCV003025782] Chr1:202941705 [GRCh38]
Chr1:202910833 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.118C>T (p.Arg40Trp) single nucleotide variant not provided [RCV003008247] Chr1:202950953 [GRCh38]
Chr1:202920081 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.1088A>T (p.Tyr363Phe) single nucleotide variant not provided [RCV002594035] Chr1:202941613 [GRCh38]
Chr1:202910741 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.259-13G>A single nucleotide variant not provided [RCV003006091] Chr1:202946623 [GRCh38]
Chr1:202915751 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.156A>T (p.Gln52His) single nucleotide variant not provided [RCV003025656] Chr1:202948406 [GRCh38]
Chr1:202917534 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.430+11T>C single nucleotide variant not provided [RCV002932567] Chr1:202946428 [GRCh38]
Chr1:202915556 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.88C>A (p.Leu30Met) single nucleotide variant not provided [RCV002596634] Chr1:202950983 [GRCh38]
Chr1:202920111 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.959G>A (p.Arg320Gln) single nucleotide variant not provided [RCV002663265] Chr1:202942065 [GRCh38]
Chr1:202911193 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.289T>C (p.Tyr97His) single nucleotide variant not provided [RCV003042344] Chr1:202946580 [GRCh38]
Chr1:202915708 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.637G>A (p.Ala213Thr) single nucleotide variant not provided [RCV002985469] Chr1:202943926 [GRCh38]
Chr1:202913054 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.430+15T>C single nucleotide variant not provided [RCV002853296] Chr1:202946424 [GRCh38]
Chr1:202915552 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.981T>C (p.Pro327=) single nucleotide variant not provided [RCV003024669] Chr1:202942043 [GRCh38]
Chr1:202911171 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.111G>A (p.Lys37=) single nucleotide variant not provided [RCV002721282] Chr1:202950960 [GRCh38]
Chr1:202920088 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.262T>G (p.Trp88Gly) single nucleotide variant not provided [RCV002675782] Chr1:202946607 [GRCh38]
Chr1:202915735 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.805+18C>T single nucleotide variant not provided [RCV002716390] Chr1:202943740 [GRCh38]
Chr1:202912868 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.547T>A (p.Cys183Ser) single nucleotide variant Inborn genetic diseases [RCV002831251] Chr1:202945053 [GRCh38]
Chr1:202914181 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.874G>A (p.Val292Ile) single nucleotide variant not provided [RCV003028089] Chr1:202942150 [GRCh38]
Chr1:202911278 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.403_404insAAAA (p.Thr135fs) insertion not provided [RCV002812101] Chr1:202946465..202946466 [GRCh38]
Chr1:202915593..202915594 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.1090G>C (p.Gly364Arg) single nucleotide variant not provided [RCV002631830] Chr1:202941611 [GRCh38]
Chr1:202910739 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.399A>C (p.Thr133=) single nucleotide variant not provided [RCV002601472] Chr1:202946470 [GRCh38]
Chr1:202915598 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.142-10T>A single nucleotide variant not provided [RCV003050042] Chr1:202948430 [GRCh38]
Chr1:202917558 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.431-11C>T single nucleotide variant not provided [RCV002584576] Chr1:202945180 [GRCh38]
Chr1:202914308 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.752T>A (p.Ile251Asn) single nucleotide variant not provided [RCV002635717] Chr1:202943811 [GRCh38]
Chr1:202912939 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.654G>A (p.Gly218=) single nucleotide variant not provided [RCV002610657] Chr1:202943909 [GRCh38]
Chr1:202913037 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.436G>A (p.Val146Met) single nucleotide variant not provided [RCV002586820] Chr1:202945164 [GRCh38]
Chr1:202914292 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.806-11G>C single nucleotide variant not provided [RCV002589427] Chr1:202942229 [GRCh38]
Chr1:202911357 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.212T>A (p.Leu71Gln) single nucleotide variant not provided [RCV003690883] Chr1:202948350 [GRCh38]
Chr1:202917478 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.339T>G (p.Gly113=) single nucleotide variant not provided [RCV003740352] Chr1:202946530 [GRCh38]
Chr1:202915658 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.807C>T (p.Gly269=) single nucleotide variant not provided [RCV003575997] Chr1:202942217 [GRCh38]
Chr1:202911345 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.791G>A (p.Arg264Gln) single nucleotide variant not provided [RCV003713066] Chr1:202943772 [GRCh38]
Chr1:202912900 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.805+4G>T single nucleotide variant not provided [RCV003713041] Chr1:202943754 [GRCh38]
Chr1:202912882 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.142-3T>C single nucleotide variant not provided [RCV003573811] Chr1:202948423 [GRCh38]
Chr1:202917551 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.826T>C (p.Leu276=) single nucleotide variant not provided [RCV003687280] Chr1:202942198 [GRCh38]
Chr1:202911326 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.829A>T (p.Ser277Cys) single nucleotide variant not provided [RCV003573159] Chr1:202942195 [GRCh38]
Chr1:202911323 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.167T>C (p.Val56Ala) single nucleotide variant not provided [RCV003881497] Chr1:202948395 [GRCh38]
Chr1:202917523 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.1058A>G (p.Tyr353Cys) single nucleotide variant not provided [RCV003548663] Chr1:202941643 [GRCh38]
Chr1:202910771 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.864T>C (p.Ala288=) single nucleotide variant not provided [RCV003664127] Chr1:202942160 [GRCh38]
Chr1:202911288 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.38A>G (p.Asn13Ser) single nucleotide variant not provided [RCV003671310] Chr1:202951033 [GRCh38]
Chr1:202920161 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.141+17G>A single nucleotide variant not provided [RCV003840108] Chr1:202950913 [GRCh38]
Chr1:202920041 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.618-14G>T single nucleotide variant not provided [RCV003668425] Chr1:202943959 [GRCh38]
Chr1:202913087 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.190G>A (p.Val64Met) single nucleotide variant not provided [RCV003665770] Chr1:202948372 [GRCh38]
Chr1:202917500 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.142-19T>A single nucleotide variant not provided [RCV003723354] Chr1:202948439 [GRCh38]
Chr1:202917567 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.605G>A (p.Arg202Gln) single nucleotide variant not provided [RCV003704904] Chr1:202944995 [GRCh38]
Chr1:202914123 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.136C>T (p.Pro46Ser) single nucleotide variant not provided [RCV003865231] Chr1:202950935 [GRCh38]
Chr1:202920063 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.513G>A (p.Val171=) single nucleotide variant not provided [RCV003670616] Chr1:202945087 [GRCh38]
Chr1:202914215 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1 copy number loss not specified [RCV003986384] Chr1:197216705..203683110 [GRCh37]
Chr1:1q31.3-32.1		 likely pathogenic
GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3 copy number gain not specified [RCV003986684] Chr1:199373229..204335027 [GRCh37]
Chr1:1q32.1		 likely pathogenic
NM_015999.6(ADIPOR1):c.617+11A>G single nucleotide variant not provided [RCV003861807] Chr1:202944972 [GRCh38]
Chr1:202914100 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.322G>A (p.Asp108Asn) single nucleotide variant Retinal dystrophy [RCV003890411] Chr1:202946547 [GRCh38]
Chr1:202915675 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.199C>G (p.Leu67Val) single nucleotide variant Retinal dystrophy [RCV003890418] Chr1:202948363 [GRCh38]
Chr1:202917491 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_015999.6(ADIPOR1):c.381C>T (p.Ser127=) single nucleotide variant ADIPOR1-related condition [RCV003912174] Chr1:202946488 [GRCh38]
Chr1:202915616 [GRCh37]
Chr1:1q32.1		 likely benign
NM_015999.6(ADIPOR1):c.885C>T (p.Thr295=) single nucleotide variant Retinal dystrophy [RCV003890399] Chr1:202942139 [GRCh38]
Chr1:202911267 [GRCh37]
Chr1:1q32.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1084
Count of miRNA genes:513
Interacting mature miRNAs:558
Transcripts:ENST00000340990, ENST00000367254, ENST00000417068, ENST00000426229, ENST00000436244, ENST00000495562
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.

Markers in Region
G20811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371202,910,013 - 202,910,211UniSTSGRCh37
Build 361201,176,636 - 201,176,834RGDNCBI36
Celera1176,039,260 - 176,039,458RGD
Cytogenetic Map1q32.1UniSTS
HuRef1174,075,669 - 174,075,867UniSTS
A006H25  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371202,910,013 - 202,910,211UniSTSGRCh37
Build 361201,176,636 - 201,176,834RGDNCBI36
Celera1176,039,260 - 176,039,458RGD
Cytogenetic Map1q32.1UniSTS
HuRef1174,075,669 - 174,075,867UniSTS
GeneMap99-GB4 RH Map1670.77UniSTS
WI-18541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371202,910,725 - 202,910,874UniSTSGRCh37
Build 361201,177,348 - 201,177,497RGDNCBI36
Celera1176,039,972 - 176,040,121RGD
Cytogenetic Map1q32.1UniSTS
HuRef1174,076,381 - 174,076,530UniSTS
GeneMap99-GB4 RH Map1666.51UniSTS
Whitehead-RH Map1826.7UniSTS
SHGC-34701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371202,910,739 - 202,910,873UniSTSGRCh37
Build 361201,177,362 - 201,177,496RGDNCBI36
Celera1176,039,986 - 176,040,120RGD
Cytogenetic Map1q32.1UniSTS
HuRef1174,076,395 - 174,076,529UniSTS
TNG Radiation Hybrid Map199897.0UniSTS
GeneMap99-GB4 RH Map1670.74UniSTS
Whitehead-RH Map1826.9UniSTS
RH16184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371202,910,697 - 202,910,815UniSTSGRCh37
Build 361201,177,320 - 201,177,438RGDNCBI36
Celera1176,039,944 - 176,040,062RGD
Cytogenetic Map1q32.1UniSTS
HuRef1174,076,353 - 174,076,471UniSTS
GeneMap99-GB4 RH Map1666.51UniSTS
NCBI RH Map11737.4UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 10 10 2
Medium 2439 2941 1725 623 1941 464 4357 2158 3721 418 1458 1613 175 1 1204 2788 6 2
Low 40 1 1 1 39 13 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC096632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI251444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK058114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY424279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI597715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX461217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA523648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC299099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HD061930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000340990   ⟹   ENSP00000341785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1202,940,832 - 202,958,312 (-)Ensembl
RefSeq Acc Id: ENST00000367254   ⟹   ENSP00000356223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1202,941,490 - 202,958,264 (-)Ensembl
RefSeq Acc Id: ENST00000417068   ⟹   ENSP00000402178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1202,943,764 - 202,958,572 (-)Ensembl
RefSeq Acc Id: ENST00000426229   ⟹   ENSP00000392946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1202,944,983 - 202,958,285 (-)Ensembl
RefSeq Acc Id: ENST00000495562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1202,940,826 - 202,944,796 (-)Ensembl
RefSeq Acc Id: NM_001290553   ⟹   NP_001277482
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381202,940,832 - 202,957,984 (-)NCBI
CHM1_11204,332,188 - 204,349,351 (-)NCBI
T2T-CHM13v2.01202,203,552 - 202,220,708 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001290557   ⟹   NP_001277486
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381202,940,825 - 202,958,396 (-)NCBI
CHM1_11204,332,188 - 204,349,763 (-)NCBI
T2T-CHM13v2.01202,203,545 - 202,221,120 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001290629   ⟹   NP_001277558
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381202,940,825 - 202,958,572 (-)NCBI
CHM1_11204,332,188 - 204,349,939 (-)NCBI
T2T-CHM13v2.01202,203,545 - 202,221,296 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015999   ⟹   NP_057083
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381202,940,832 - 202,958,312 (-)NCBI
GRCh371202,909,960 - 202,927,700 (-)ENTREZGENE
Build 361201,176,576 - 201,194,034 (-)NCBI Archive
HuRef1174,075,616 - 174,093,389 (-)ENTREZGENE
CHM1_11204,332,188 - 204,349,763 (-)NCBI
T2T-CHM13v2.01202,203,552 - 202,221,036 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447427   ⟹   XP_024303195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381202,940,825 - 202,946,598 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047421959   ⟹   XP_047277915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381202,940,825 - 202,957,984 (-)NCBI
RefSeq Acc Id: XM_054336880   ⟹   XP_054192855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01202,203,545 - 202,219,069 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_057083   ⟸   NM_015999
- UniProtKB: Q53YY6 (UniProtKB/Swiss-Prot),   Q53HS7 (UniProtKB/Swiss-Prot),   B3KMB0 (UniProtKB/Swiss-Prot),   Q9Y360 (UniProtKB/Swiss-Prot),   Q96A54 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001277558   ⟸   NM_001290629
- UniProtKB: Q53YY6 (UniProtKB/Swiss-Prot),   Q53HS7 (UniProtKB/Swiss-Prot),   B3KMB0 (UniProtKB/Swiss-Prot),   Q9Y360 (UniProtKB/Swiss-Prot),   Q96A54 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001277486   ⟸   NM_001290557
- UniProtKB: Q53YY6 (UniProtKB/Swiss-Prot),   Q53HS7 (UniProtKB/Swiss-Prot),   B3KMB0 (UniProtKB/Swiss-Prot),   Q9Y360 (UniProtKB/Swiss-Prot),   Q96A54 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001277482   ⟸   NM_001290553
- UniProtKB: Q53YY6 (UniProtKB/Swiss-Prot),   Q53HS7 (UniProtKB/Swiss-Prot),   B3KMB0 (UniProtKB/Swiss-Prot),   Q9Y360 (UniProtKB/Swiss-Prot),   Q96A54 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024303195   ⟸   XM_024447427
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000392946   ⟸   ENST00000426229
RefSeq Acc Id: ENSP00000402178   ⟸   ENST00000417068
RefSeq Acc Id: ENSP00000356223   ⟸   ENST00000367254
RefSeq Acc Id: ENSP00000341785   ⟸   ENST00000340990
RefSeq Acc Id: XP_047277915   ⟸   XM_047421959
- Peptide Label: isoform X1
- UniProtKB: Q96A54 (UniProtKB/Swiss-Prot),   Q53YY6 (UniProtKB/Swiss-Prot),   Q53HS7 (UniProtKB/Swiss-Prot),   B3KMB0 (UniProtKB/Swiss-Prot),   Q9Y360 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054192855   ⟸   XM_054336880
- Peptide Label: isoform X1
- UniProtKB: Q96A54 (UniProtKB/Swiss-Prot),   Q53YY6 (UniProtKB/Swiss-Prot),   Q53HS7 (UniProtKB/Swiss-Prot),   B3KMB0 (UniProtKB/Swiss-Prot),   Q9Y360 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96A54-F1-model_v2 AlphaFold Q96A54 1-375 view protein structure

Promoters
RGD ID:6784560
Promoter ID:HG_KWN:6864
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000100122
Position:
Human AssemblyChrPosition (strand)Source
Build 361201,180,111 - 201,180,611 (-)MPROMDB
RGD ID:6784579
Promoter ID:HG_KWN:6865
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:ENST00000367254,   NM_001127687,   OTTHUMT00000099160,   OTTHUMT00000099161,   OTTHUMT00000099162,   UC001GYR.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361201,193,749 - 201,194,249 (-)MPROMDB
RGD ID:6851042
Promoter ID:EP73318
Type:initiation region
Name:HS_ADIPOR1
Description:Adiponectin receptor 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361201,194,042 - 201,194,102EPD
RGD ID:6858606
Promoter ID:EPDNEW_H2468
Type:initiation region
Name:ADIPOR1_1
Description:adiponectin receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2470  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381202,958,280 - 202,958,340EPDNEW
RGD ID:6858610
Promoter ID:EPDNEW_H2470
Type:initiation region
Name:ADIPOR1_2
Description:adiponectin receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2468  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381202,967,252 - 202,967,312EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24040 AgrOrtholog
COSMIC ADIPOR1 COSMIC
Ensembl Genes ENSG00000159346 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000340990 ENTREZGENE
  ENST00000340990.10 UniProtKB/Swiss-Prot
  ENST00000367254.7 UniProtKB/TrEMBL
  ENST00000417068.5 UniProtKB/TrEMBL
  ENST00000426229.1 UniProtKB/TrEMBL
GTEx ENSG00000159346 GTEx
HGNC ID HGNC:24040 ENTREZGENE
Human Proteome Map ADIPOR1 Human Proteome Map
InterPro AdipoR/HlyIII-related UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51094 UniProtKB/Swiss-Prot
NCBI Gene 51094 ENTREZGENE
OMIM 607945 OMIM
PANTHER ADIPONECTIN RECEPTOR PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR20855 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HlyIII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134861801 PharmGKB
UniProt B3KMB0 ENTREZGENE
  C9J0W7_HUMAN UniProtKB/TrEMBL
  C9JNM5_HUMAN UniProtKB/TrEMBL
  F8W782_HUMAN UniProtKB/TrEMBL
  PAQR1_HUMAN UniProtKB/Swiss-Prot
  Q53HS7 ENTREZGENE
  Q53YY6 ENTREZGENE
  Q96A54 ENTREZGENE
  Q9Y360 ENTREZGENE
UniProt Secondary B3KMB0 UniProtKB/Swiss-Prot
  Q53HS7 UniProtKB/Swiss-Prot
  Q53YY6 UniProtKB/Swiss-Prot
  Q9Y360 UniProtKB/Swiss-Prot