Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | Role of the D1A dopamine receptor in the pathogenesis of genetic hypertension. | Albrecht FE, etal., J Clin Invest 1996 May 15;97(10):2283-8. |
2. | Striatal neurochemical changes in transgenic models of Huntington's disease. | Ariano MA, etal., J Neurosci Res. 2002 Jun 15;68(6):716-29. |
3. | Acute sleep deprivation enhances avoidance learning and spatial memory and induces delayed alterations in neurochemical expression of GR, TH, DRD1, pCREB and Ki67 in rats. | Azogu I, etal., Behav Brain Res. 2015 Feb 15;279:177-90. doi: 10.1016/j.bbr.2014.11.015. Epub 2014 Nov 26. |
4. | Tempol reduces oxidative stress, improves insulin sensitivity, decreases renal dopamine D1 receptor hyperphosphorylation, and restores D1 receptor-G-protein coupling and function in obese Zucker rats. | Banday AA, etal., Diabetes. 2005 Jul;54(7):2219-26. |
5. | Mitogen-activated protein kinase upregulation reduces renal D1 receptor affinity and G-protein coupling in obese rats. | Banday AA, etal., Kidney Int. 2007 Mar;71(5):397-406. Epub 2006 Dec 27. |
6. | The physiology, signaling, and pharmacology of dopamine receptors. | Beaulieu JM and Gainetdinov RR, Pharmacol Rev. 2011 Mar;63(1):182-217. doi: 10.1124/pr.110.002642. Epub 2011 Feb 8. |
7. | Dopamine receptors - IUPHAR Review 13. | Beaulieu JM, etal., Br J Pharmacol. 2015 Jan;172(1):1-23. |
8. | Tracheal occlusion modulates the gene expression profile of the medial thalamus in anesthetized rats. | Bernhardt V, etal., J Appl Physiol. 2011 Jul;111(1):117-24. doi: 10.1152/japplphysiol.01317.2010. Epub 2011 Apr 28. |
9. | Isolated Flinders Sensitive Line rats have decreased dopamine D2 receptor mRNA. | Bjornebekk A, etal., Neuroreport. 2007 Jul 2;18(10):1039-43. |
10. | Cognitive impairment and gene expression alterations in a rodent model of binge eating disorder. | Chawla A, etal., Physiol Behav. 2017 Oct 15;180:78-90. doi: 10.1016/j.physbeh.2017.08.004. Epub 2017 Aug 15. |
11. | Dopamine receptor expression and distribution dynamically change in the rat nucleus accumbens after withdrawal from cocaine self-administration. | Conrad KL, etal., Neuroscience. 2010 Aug 11;169(1):182-94. doi: 10.1016/j.neuroscience.2010.04.056. Epub 2010 May 7. |
12. | Aberrant cortical synaptic plasticity and dopaminergic dysfunction in a mouse model of Huntington's disease. | Cummings DM, etal., Hum Mol Genet. 2006 Oct 1;15(19):2856-68. Epub 2006 Aug 11. |
13. | Loss of synaptic D1 dopamine/N-methyl-D-aspartate glutamate receptor complexes in L-DOPA-induced dyskinesia in the rat. | Fiorentini C, etal., Mol Pharmacol. 2006 Mar;69(3):805-12. Epub 2005 Dec 19. |
14. | Dopaminergic regulation of inhibitory and excitatory transmission in the basolateral amygdala-prefrontal cortical pathway. | Floresco SB and Tse MT, J Neurosci. 2007 Feb 21;27(8):2045-57. |
15. | Dopamine D1 receptor (DRD1) genetic polymorphism: pleiotropic effects on heritable renal traits. | Fung MM, etal., Kidney Int. 2009 Nov;76(10):1070-80. doi: 10.1038/ki.2009.306. Epub 2009 Aug 12. |
16. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
17. | The neural correlates and role of D1 dopamine receptors in renewal of extinguished alcohol-seeking. | Hamlin AS, etal., Neuroscience. 2007 May 11;146(2):525-36. doi: 10.1016/j.neuroscience.2007.01.063. Epub 2007 Mar 23. |
18. | Curcumin modulates dopaminergic receptor, CREB and phospholipase C gene expression in the cerebral cortex and cerebellum of streptozotocin induced diabetic rats. | Kumar TP, etal., J Biomed Sci. 2010 May 31;17:43. doi: 10.1186/1423-0127-17-43. |
19. | Immunohistochemical localization of dopamine receptor subtypes (D1R-D5R) in Alzheimer's disease brain. | Kumar U and Patel SC, Brain Res. 2007 Feb 2;1131(1):187-96. Epub 2006 Dec 19. |
20. | Dopamine D1/D5 receptors gate the acquisition of novel information through hippocampal long-term potentiation and long-term depression. | Lemon N and Manahan-Vaughan D, J Neurosci. 2006 Jul 19;26(29):7723-9. |
21. | The usefulness of the spontaneously hypertensive rat to model attention-deficit/hyperactivity disorder (ADHD) may be explained by the differential expression of dopamine-related genes in the brain. | Li Q, etal., Neurochem Int. 2007 May;50(6):848-57. Epub 2007 Mar 1. |
22. | Changes in Expression of Dopamine, Its Receptor, and Transporter in Nucleus Accumbens of Heroin-Addicted Rats with Brain-Derived Neurotrophic Factor (BDNF) Overexpression. | Li Y, etal., Med Sci Monit. 2017 Jun 9;23:2805-2815. |
23. | Glycaemic control with insulin prevents the reduced renal dopamine D1 receptor expression and function in streptozotocin-induced diabetes. | Moreira-Rodrigues M, etal., Nephrol Dial Transplant. 2010 Sep;25(9):2945-53. doi: 10.1093/ndt/gfq150. Epub 2010 Mar 25. |
24. | Expression of the dopaminergic D1 and D2 receptors in the anterior cingulate cortex in a model of neuropathic pain. | Ortega-Legaspi JM, etal., Mol Pain. 2011 Dec 15;7:97. |
25. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
26. | PSD-95 expression controls L-DOPA dyskinesia through dopamine D1 receptor trafficking. | Porras G, etal., J Clin Invest. 2012 Nov 1;122(11):3977-89. doi: 10.1172/JCI59426. Epub 2012 Oct 8. |
27. | Renal albumin excretion: twin studies identify influences of heredity, environment, and adrenergic pathway polymorphism. | Rao F, etal., Hypertension. 2007 May;49(5):1015-31. Epub 2007 Mar 12. |
28. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
29. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
30. | Dysregulation of gene expression in primary neuron models of Huntington's disease shows that polyglutamine-related effects on the striatal transcriptome may not be dependent on brain circuitry. | Runne H, etal., J Neurosci. 2008 Sep 24;28(39):9723-31. |
31. | Brain D1 dopamine receptor in alloxan-induced diabetes. | Salkovic M and Lackovic Z, Diabetes. 1992 Sep;41(9):1119-21. |
32. | Ethanol concentration-dependent alterations in gene expression during acute binge drinking in the HIV-1 transgenic rat. | Sarkar S and Chang SL, Alcohol Clin Exp Res. 2013 Jul;37(7):1082-90. doi: 10.1111/acer.12077. Epub 2013 Feb 15. |
33. | Dopamine D1 receptor gene polymorphism is associated with essential hypertension. | Sato M, etal., Hypertension. 2000 Aug;36(2):183-6. |
34. | Electroacupuncture inhibition of hyperalgesia in rats with adjuvant arthritis: involvement of cannabinoid receptor 1 and dopamine receptor subtypes in striatum. | Shou Y, etal., Evid Based Complement Alternat Med. 2013;2013:393460. doi: 10.1155/2013/393460. Epub 2013 May 25. |
35. | Blood pressure and renal sodium handling in relation to genetic variation in the DRD1 promoter and GRK4. | Staessen JA, etal., Hypertension. 2008 Jun;51(6):1643-50. doi: 10.1161/HYPERTENSIONAHA.107.109611. Epub 2008 Apr 14. |
36. | Effect of UUO on D1aR expression reveals a link among dopamine, transforming growth factor-beta, and nitric oxide. | Stern JM, etal., Am J Physiol Renal Physiol. 2004 Mar;286(3):F509-15. Epub 2003 Nov 11. |
37. | Amphetamine and environmentally induced hyperthermia differentially alter the expression of genes regulating vascular tone and angiogenesis in the meninges and associated vasculature. | Thomas M, etal., Synapse. 2009 Oct;63(10):881-94. |
38. | Rosiglitazone restores renal D1A receptor-Gs protein coupling by reducing receptor hyperphosphorylation in obese rats. | Trivedi M and Lokhandwala MF, Am J Physiol Renal Physiol. 2005 Aug;289(2):F298-304. Epub 2005 Mar 29. |
39. | Delivery of recombinant adeno-associated virus-mediated human tissue kallikrein for therapy of chronic renal failure in rats. | Tu L, etal., Hum Gene Ther. 2008 Apr;19(4):318-30. doi: 10.1089/hum.2007.138. |
40. | Basal regulation of HPA and dopamine systems is altered differentially in males and females by prenatal alcohol exposure and chronic variable stress. | Uban KA, etal., Psychoneuroendocrinology. 2013 Oct;38(10):1953-66. doi: 10.1016/j.psyneuen.2013.02.017. Epub 2013 Apr 8. |
41. | Dopamine D1 receptor mutant mice are deficient in striatal expression of dynorphin and in dopamine-mediated behavioral responses. | Xu M, etal., Cell 1994 Nov 18;79(4):729-42. |
42. | Effects of enteral nutrition on the barrier function of the intestinal mucosa and dopamine receptor expression in rats with traumatic brain injury. | Zhang X and Jiang X, JPEN J Parenter Enteral Nutr. 2015 Jan;39(1):114-23. doi: 10.1177/0148607113501881. Epub 2013 Sep 18. |
PMID:1282671 | PMID:1557411 | PMID:1831904 | PMID:1975640 | PMID:1977312 | PMID:2144334 | PMID:2168520 | PMID:7609904 | PMID:7838121 | PMID:8264547 | PMID:8301582 | PMID:8810292 |
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PMID:16338988 | PMID:16344560 | PMID:16391193 | PMID:16397404 | PMID:16424823 | PMID:16594948 | PMID:16816977 | PMID:16846218 | PMID:16876683 | PMID:17066478 | PMID:17092969 | PMID:17194762 |
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PMID:18424554 | PMID:18451638 | PMID:18516948 | PMID:18558372 | PMID:18583979 | PMID:18615540 | PMID:18644790 | PMID:18676680 | PMID:18687376 | PMID:18689859 | PMID:18821566 | PMID:18832011 |
PMID:18855532 | PMID:18937294 | PMID:18937842 | PMID:18946469 | PMID:18984584 | PMID:19000940 | PMID:19005068 | PMID:19058789 | PMID:19086053 | PMID:19105202 | PMID:19143836 | PMID:19153942 |
PMID:19156168 | PMID:19170196 | PMID:19171671 | PMID:19176223 | PMID:19182156 | PMID:19197069 | PMID:19235789 | PMID:19367581 | PMID:19413572 | PMID:19523047 | PMID:19563515 | PMID:19625176 |
PMID:19647327 | PMID:19692168 | PMID:19695183 | PMID:19772578 | PMID:19786093 | PMID:19864616 | PMID:19874574 | PMID:19897079 | PMID:19913121 | PMID:20071033 | PMID:20081237 | PMID:20127886 |
PMID:20164562 | PMID:20180564 | PMID:20351714 | PMID:20382433 | PMID:20395553 | PMID:20407490 | PMID:20452395 | PMID:20456319 | PMID:20468064 | PMID:20531939 | PMID:20592018 | PMID:20628086 |
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PMID:24410560 | PMID:24410775 | PMID:24523562 | PMID:24552847 | PMID:24618367 | PMID:24719111 | PMID:24768614 | PMID:25049074 | PMID:25073922 | PMID:25154512 | PMID:25179995 | PMID:25233244 |
PMID:25268786 | PMID:25281486 | PMID:25527226 | PMID:25613135 | PMID:25660313 | PMID:25740199 | PMID:25825816 | PMID:25896831 | PMID:25966176 | PMID:26041607 | PMID:26186971 | PMID:26337060 |
PMID:26419600 | PMID:26447226 | PMID:26484506 | PMID:26593092 | PMID:26597879 | PMID:26665568 | PMID:26723139 | PMID:26730182 | PMID:26957229 | PMID:27021648 | PMID:27129257 | PMID:27460146 |
PMID:27472173 | PMID:27497990 | PMID:27570114 | PMID:27591410 | PMID:27620964 | PMID:27701029 | PMID:28119185 | PMID:28154160 | PMID:28361444 | PMID:28416594 | PMID:28579604 | PMID:28582422 |
PMID:28699280 | PMID:28770955 | PMID:28894300 | PMID:29241537 | PMID:29543812 | PMID:29606146 | PMID:29634738 | PMID:29735686 | PMID:29909784 | PMID:30022436 | PMID:30103286 | PMID:30586202 |
PMID:30626479 | PMID:30958880 | PMID:31119645 | PMID:31123756 | PMID:31131520 | PMID:31192519 | PMID:31858826 | PMID:31962344 | PMID:32052915 | PMID:32484215 | PMID:32761562 | PMID:32770189 |
PMID:32814053 | PMID:32868781 | PMID:32888283 | PMID:33287325 | PMID:33456556 | PMID:33571431 | PMID:33571432 | PMID:33750903 | PMID:34083522 | PMID:34264865 | PMID:34870351 | PMID:35062349 |
PMID:35396380 | PMID:36441110 | PMID:36649260 | PMID:36894051 | PMID:37024146 | PMID:37252844 | PMID:38302439 |
DRD1 (Homo sapiens - human) |
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Drd1 (Mus musculus - house mouse) |
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Drd1 (Rattus norvegicus - Norway rat) |
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Drd1 (Chinchilla lanigera - long-tailed chinchilla) |
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DRD1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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DRD1 (Canis lupus familiaris - dog) |
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Drd1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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DRD1 (Sus scrofa - pig) |
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DRD1 (Chlorocebus sabaeus - green monkey) |
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Drd1 (Heterocephalus glaber - naked mole-rat) |
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.
Variants in DRD1
15 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 | copy number gain | See cases [RCV000051863] | Chr5:149714592..181272151 [GRCh38] Chr5:149094155..180699152 [GRCh37] Chr5:149074348..180631758 [NCBI36] Chr5:5q32-35.3 |
pathogenic |
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] | Chr5:160029980..181269805 [GRCh38] Chr5:159456987..180696806 [GRCh37] Chr5:159389565..180629412 [NCBI36] Chr5:5q33.3-35.3 |
pathogenic |
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 | copy number gain | See cases [RCV000051866] | Chr5:168689326..181269946 [GRCh38] Chr5:168116331..180696947 [GRCh37] Chr5:168048909..180629553 [NCBI36] Chr5:5q34-35.3 |
pathogenic |
GRCh38/hg38 5q35.2-35.3(chr5:175007241-179089812)x1 | copy number loss | See cases [RCV000052151] | Chr5:175007241..179089812 [GRCh38] Chr5:174434244..178516813 [GRCh37] Chr5:174366850..178449419 [NCBI36] Chr5:5q35.2-35.3 |
pathogenic |
NM_000794.3(DRD1):c.564C>T (p.Ser188=) | single nucleotide variant | Malignant melanoma [RCV000061216] | Chr5:175442536 [GRCh38] Chr5:174869539 [GRCh37] Chr5:174802145 [NCBI36] Chr5:5q35.2 |
not provided |
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 | copy number gain | See cases [RCV000133847] | Chr5:156825512..181269805 [GRCh38] Chr5:156252523..180696806 [GRCh37] Chr5:156185101..180629412 [NCBI36] Chr5:5q33.3-35.3 |
pathogenic |
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 | copy number gain | See cases [RCV000135546] | Chr5:164386701..181269805 [GRCh38] Chr5:163813707..180696806 [GRCh37] Chr5:163746285..180629412 [NCBI36] Chr5:5q34-35.3 |
pathogenic |
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 | copy number gain | See cases [RCV000141249] | Chr5:169334755..181285301 [GRCh38] Chr5:168761759..180712302 [GRCh37] Chr5:168694337..180644908 [NCBI36] Chr5:5q35.1-35.3 |
pathogenic |
GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3 | copy number gain | See cases [RCV000142647] | Chr5:173237772..176614618 [GRCh38] Chr5:172664775..176041619 [GRCh37] Chr5:172597381..175974225 [NCBI36] Chr5:5q35.1-35.2 |
pathogenic |
GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1 | copy number loss | See cases [RCV000167565] | Chr5:174397487..180686444 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
GRCh37/hg19 5q35.2(chr5:173043321-174953690)x3 | copy number gain | Breast ductal adenocarcinoma [RCV000207114] | Chr5:173043321..174953690 [GRCh37] Chr5:5q35.2 |
uncertain significance |
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 | copy number gain | not provided [RCV000487658] | Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3 |
likely benign |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) | copy number gain | See cases [RCV000510723] | Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5q35.2-35.3(chr5:174427052-180719789)x1 | copy number loss | See cases [RCV000448611] | Chr5:174427052..180719789 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 | copy number gain | See cases [RCV000448245] | Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3 |
pathogenic |
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3 | copy number gain | See cases [RCV000448458] | Chr5:171396359..180719789 [GRCh37] Chr5:5q35.1-35.3 |
pathogenic |
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3 | copy number gain | See cases [RCV000512068] | Chr5:172031248..180719789 [GRCh37] Chr5:5q35.1-35.3 |
pathogenic |
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 | copy number loss | See cases [RCV000511978] | Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 | copy number gain | See cases [RCV000512039] | Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_000794.5(DRD1):c.-48G>A | single nucleotide variant | not specified [RCV000608357] | Chr5:175443147 [GRCh38] Chr5:174870150 [GRCh37] Chr5:5q35.2 |
likely benign |
NM_000794.5(DRD1):c.-48= | single nucleotide variant | not specified [RCV000601952] | Chr5:175443147 [GRCh38] Chr5:174870150 [GRCh37] Chr5:5q35.2 |
benign |
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 | copy number gain | not provided [RCV000744323] | Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 | copy number gain | not provided [RCV000744317] | Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 | copy number gain | not provided [RCV000745284] | Chr5:155344802..180693344 [GRCh37] Chr5:5q33.2-35.3 |
pathogenic |
GRCh37/hg19 5q35.2-35.3(chr5:174832617-180693344)x3 | copy number gain | not provided [RCV000745336] | Chr5:174832617..180693344 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
NM_000794.5(DRD1):c.522A>C (p.Gly174=) | single nucleotide variant | not provided [RCV000927435] | Chr5:175442578 [GRCh38] Chr5:174869581 [GRCh37] Chr5:5q35.2 |
likely benign |
NM_000794.5(DRD1):c.1317A>G (p.Thr439=) | single nucleotide variant | not provided [RCV000900947] | Chr5:175441783 [GRCh38] Chr5:174868786 [GRCh37] Chr5:5q35.2 |
likely benign |
NM_000794.5(DRD1):c.1044C>T (p.Tyr348=) | single nucleotide variant | not provided [RCV000896636] | Chr5:175442056 [GRCh38] Chr5:174869059 [GRCh37] Chr5:5q35.2 |
benign |
NM_000794.5(DRD1):c.432C>T (p.Ile144=) | single nucleotide variant | not provided [RCV000909511] | Chr5:175442668 [GRCh38] Chr5:174869671 [GRCh37] Chr5:5q35.2 |
benign |
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) | copy number gain | Hunter-McAlpine craniosynostosis [RCV002280612] | Chr5:149010383..180719789 [GRCh37] Chr5:5q32-35.3 |
pathogenic |
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 | copy number gain | 5q35 microduplication syndrome [RCV001263227] | Chr5:170805664..180719789 [GRCh37] Chr5:5q35.1-35.3 |
pathogenic |
GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3 | copy number gain | See cases [RCV002292398] | Chr5:170350336..180719789 [GRCh37] Chr5:5q35.1-35.3 |
pathogenic |
NM_000794.5(DRD1):c.223G>A (p.Val75Ile) | single nucleotide variant | Inborn genetic diseases [RCV003012711] | Chr5:175442877 [GRCh38] Chr5:174869880 [GRCh37] Chr5:5q35.2 |
uncertain significance |
NM_000794.5(DRD1):c.50A>T (p.Glu17Val) | single nucleotide variant | Inborn genetic diseases [RCV002902464] | Chr5:175443050 [GRCh38] Chr5:174870053 [GRCh37] Chr5:5q35.2 |
uncertain significance |
NM_000794.5(DRD1):c.1336A>G (p.Thr446Ala) | single nucleotide variant | Inborn genetic diseases [RCV002926052] | Chr5:175441764 [GRCh38] Chr5:174868767 [GRCh37] Chr5:5q35.2 |
uncertain significance |
NM_000794.5(DRD1):c.544A>G (p.Thr182Ala) | single nucleotide variant | Inborn genetic diseases [RCV002980186] | Chr5:175442556 [GRCh38] Chr5:174869559 [GRCh37] Chr5:5q35.2 |
uncertain significance |
NM_000794.5(DRD1):c.469A>G (p.Ile157Val) | single nucleotide variant | Inborn genetic diseases [RCV002854626] | Chr5:175442631 [GRCh38] Chr5:174869634 [GRCh37] Chr5:5q35.2 |
uncertain significance |
NM_000794.5(DRD1):c.43G>A (p.Val15Met) | single nucleotide variant | Inborn genetic diseases [RCV002665754] | Chr5:175443057 [GRCh38] Chr5:174870060 [GRCh37] Chr5:5q35.2 |
uncertain significance |
NM_000794.5(DRD1):c.1040G>A (p.Cys347Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002929337] | Chr5:175442060 [GRCh38] Chr5:174869063 [GRCh37] Chr5:5q35.2 |
uncertain significance |
NM_000794.5(DRD1):c.1187G>T (p.Gly396Val) | single nucleotide variant | Inborn genetic diseases [RCV003261183] | Chr5:175441913 [GRCh38] Chr5:174868916 [GRCh37] Chr5:5q35.2 |
uncertain significance |
GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1 | copy number loss | not provided [RCV003485492] | Chr5:171836503..176517734 [GRCh37] Chr5:5q35.1-35.2 |
pathogenic |
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. |
G44335 |
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GDB:210842 |
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GDB:251589 |
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GDB:251590 |
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GDB:251591 |
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GDB:251592 |
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GDB:595086 |
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GDB:595113 |
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GDB:595139 |
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GDB:595147 |
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GDB:681987 |
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PMC311033P2 |
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DRD1_599 |
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SGC34944 |
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DRD1 |
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RH16255 |
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RH18117 |
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D5S2403 |
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UniSTS:482142 |
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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 | |
High | |||||||||||||||||
Medium | 2 | 3 | 3 | 2 | 2 | 2 | 549 | 6 | 1 | 12 | |||||||
Low | 458 | 651 | 476 | 162 | 98 | 160 | 919 | 126 | 1882 | 90 | 501 | 652 | 9 | 1 | 560 | 628 | 1 |
Below cutoff | 1846 | 1458 | 1135 | 391 | 660 | 241 | 3018 | 1642 | 1240 | 209 | 756 | 768 | 154 | 638 | 1923 | 2 |
RefSeq Transcripts | NG_011802 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_000794 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB065677 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC091393 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF498961 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK314031 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC074978 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC074979 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC096837 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471062 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068273 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR541922 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA249160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M85247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S58541 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X55758 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X55760 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X58987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000393752 ⟹ ENSP00000377353 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_000794 ⟹ NP_000785 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_000785 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAB26273 | (Get FASTA) | NCBI Sequence Viewer |
AAH74978 | (Get FASTA) | NCBI Sequence Viewer | |
AAH74979 | (Get FASTA) | NCBI Sequence Viewer | |
AAH96837 | (Get FASTA) | NCBI Sequence Viewer | |
AAM18131 | (Get FASTA) | NCBI Sequence Viewer | |
BAC05902 | (Get FASTA) | NCBI Sequence Viewer | |
BAG36741 | (Get FASTA) | NCBI Sequence Viewer | |
CAA39284 | (Get FASTA) | NCBI Sequence Viewer | |
CAA39286 | (Get FASTA) | NCBI Sequence Viewer | |
CAA41734 | (Get FASTA) | NCBI Sequence Viewer | |
CAG46720 | (Get FASTA) | NCBI Sequence Viewer | |
EAW61376 | (Get FASTA) | NCBI Sequence Viewer | |
EAW61377 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000377353 | ||
ENSP00000377353.1 | |||
GenBank Protein | P21728 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_000785 ⟸ NM_000794 |
- UniProtKB: | B2RA44 (UniProtKB/Swiss-Prot), Q4QRJ0 (UniProtKB/Swiss-Prot), P21728 (UniProtKB/Swiss-Prot), Q6FH34 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000377353 ⟸ ENST00000393752 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P21728-F1-model_v2 | AlphaFold | P21728 | 1-446 | view protein structure |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:3020 | AgrOrtholog |
COSMIC | DRD1 | COSMIC |
Ensembl Genes | ENSG00000184845 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000393752 | ENTREZGENE |
ENST00000393752.3 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | Rhodopsin 7-helix transmembrane proteins | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000184845 | GTEx |
HGNC ID | HGNC:3020 | ENTREZGENE |
Human Proteome Map | DRD1 | Human Proteome Map |
InterPro | Dopamine_D1_rcpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Dopamine_rcpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GPCR_Rhodpsn | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GPCR_Rhodpsn_7TM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:1812 | UniProtKB/Swiss-Prot |
NCBI Gene | 1812 | ENTREZGENE |
OMIM | 126449 | OMIM |
PANTHER | ADRENERGIC RECEPTOR-RELATED G-PROTEIN COUPLED RECEPTOR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
D(1A) DOPAMINE RECEPTOR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | 7tm_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | DRD1 | RGD, PharmGKB |
PRINTS | DOPAMINED1AR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DOPAMINER | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GPCRRHODOPSN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROSITE | G_PROTEIN_RECEP_F1_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
G_PROTEIN_RECEP_F1_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | 7TM_GPCR_Srsx | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | Family A G protein-coupled receptor-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B2RA44 | ENTREZGENE |
DRD1_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q4QRJ0 | ENTREZGENE | |
Q6FH34 | ENTREZGENE, UniProtKB/TrEMBL | |
UniProt Secondary | B2RA44 | UniProtKB/Swiss-Prot |
Q4QRJ0 | UniProtKB/Swiss-Prot |