DRD5 (dopamine receptor D5) - Rat Genome Database

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Gene: DRD5 (dopamine receptor D5) Homo sapiens
Analyze
Symbol: DRD5
Name: dopamine receptor D5
RGD ID: 731837
HGNC Page HGNC
Description: Exhibits dopamine binding activity and dopamine neurotransmitter receptor activity. Involved in adenylate cyclase-activating dopamine receptor signaling pathway; negative regulation of NAD(P)H oxidase activity; and reactive oxygen species metabolic process. Localizes to ciliary membrane and non-motile cilium. Implicated in attention deficit hyperactivity disorder and blepharospasm. Biomarker of Alzheimer's disease and Parkinson's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: D(1B) dopamine receptor; d(5) dopamine receptor; D1B; D1beta dopamine receptor; DBDR; dopamine D5 receptor; dopamine receptor 5; dopamine receptor D1B; DRD1B; DRD1L2; MGC10601
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: DRD5P1   DRD5P2   LOC101060524   LOC101929815  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl49,781,634 - 9,784,009 (+)EnsemblGRCh38hg38GRCh38
GRCh3849,781,634 - 9,784,009 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3749,783,258 - 9,785,633 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3649,392,701 - 9,394,731 (+)NCBINCBI36hg18NCBI36
Build 3449,459,871 - 9,461,901NCBI
Celera410,266,117 - 10,268,492 (+)NCBI
Cytogenetic Map4p16.1NCBI
HuRef49,117,663 - 9,120,038 (+)NCBIHuRef
CHM1_149,781,174 - 9,783,549 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of adenylate cyclase activity  (TAS)
adenylate cyclase-activating adrenergic receptor signaling pathway  (IBA)
adenylate cyclase-activating dopamine receptor signaling pathway  (IDA,ISO)
adenylate cyclase-activating G protein-coupled receptor signaling pathway  (IDA,ISO)
associative learning  (IEA,ISO)
cellular calcium ion homeostasis  (TAS)
cellular response to catecholamine stimulus  (IDA)
chemical synaptic transmission  (NAS)
dopamine receptor signaling pathway  (IBA,ISO)
G protein-coupled receptor signaling pathway  (TAS)
long-term synaptic depression  (IEA,ISO)
mating behavior  (ISO)
negative regulation of blood pressure  (IEA,ISO)
negative regulation of cell migration  (ISO)
negative regulation of inflammatory response to antigenic stimulus  (TAS)
negative regulation of NAD(P)H oxidase activity  (IDA)
negative regulation of protein kinase activity  (ISO)
norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure  (IEA,ISO)
phospholipase C-activating dopamine receptor signaling pathway  (TAS)
positive regulation of adenylate cyclase activity  (NAS)
reactive oxygen species metabolic process  (IDA)
regulation of female receptivity  (IEA,ISO)
regulation of postsynaptic membrane neurotransmitter receptor levels  (ISO)
regulation of systemic arterial blood pressure by vasopressin  (IEA,ISO)
response to amphetamine  (IEA,ISO)
response to cocaine  (IEA,ISO)
sensitization  (IEA,ISO)
synaptic transmission, dopaminergic  (NAS)
transmission of nerve impulse  (IEA,ISO)
visual learning  (ISO)
wound healing  (IEA,ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1387108   PMID:1532789   PMID:1774076   PMID:1826762   PMID:1831904   PMID:1833775   PMID:1834671   PMID:7633397   PMID:7727453   PMID:8288248   PMID:9457173   PMID:9603210  
PMID:10391209   PMID:10531415   PMID:10659839   PMID:11024217   PMID:11036203   PMID:11054773   PMID:11140838   PMID:11353446   PMID:11445276   PMID:11459908   PMID:11500503   PMID:12036966  
PMID:12047334   PMID:12351722   PMID:12477932   PMID:12509874   PMID:12623966   PMID:12660802   PMID:12700316   PMID:12967601   PMID:14509667   PMID:14581671   PMID:14732464   PMID:14755441  
PMID:15489334   PMID:15635698   PMID:15717291   PMID:16352863   PMID:16380908   PMID:16389711   PMID:16526040   PMID:16774975   PMID:17325714   PMID:17394052   PMID:17427194   PMID:17501935  
PMID:17579368   PMID:18081165   PMID:18164132   PMID:18172057   PMID:18240029   PMID:18270970   PMID:18403039   PMID:18464932   PMID:18563476   PMID:18636124   PMID:18665883   PMID:18855532  
PMID:19024005   PMID:19058789   PMID:19086053   PMID:19105202   PMID:19156168   PMID:19171671   PMID:19266703   PMID:19352218   PMID:19397556   PMID:19506906   PMID:19673036   PMID:19682861  
PMID:19772578   PMID:19786093   PMID:19874574   PMID:20006992   PMID:20164562   PMID:20180564   PMID:20398908   PMID:20468060   PMID:20468064   PMID:20531939   PMID:20714340   PMID:20734064  
PMID:20864182   PMID:21083670   PMID:21115476   PMID:21348911   PMID:21873635   PMID:21893192   PMID:22203087   PMID:22309839   PMID:22403020   PMID:22710646   PMID:23152498   PMID:23318175  
PMID:23445730   PMID:24552847   PMID:24630741   PMID:24668635   PMID:25049074   PMID:25154512   PMID:25468276   PMID:25840828   PMID:26186971   PMID:26597879   PMID:27250208   PMID:27480019  
PMID:27609280   PMID:28154160   PMID:28451935   PMID:28613975   PMID:30153650   PMID:30559168   PMID:30957627   PMID:32183536   PMID:32296183   PMID:32907377  


Genomics

Comparative Map Data
DRD5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl49,781,634 - 9,784,009 (+)EnsemblGRCh38hg38GRCh38
GRCh3849,781,634 - 9,784,009 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3749,783,258 - 9,785,633 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3649,392,701 - 9,394,731 (+)NCBINCBI36hg18NCBI36
Build 3449,459,871 - 9,461,901NCBI
Celera410,266,117 - 10,268,492 (+)NCBI
Cytogenetic Map4p16.1NCBI
HuRef49,117,663 - 9,120,038 (+)NCBIHuRef
CHM1_149,781,174 - 9,783,549 (+)NCBICHM1_1
Drd5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39538,476,852 - 38,479,866 (+)NCBIGRCm39mm39
GRCm39 Ensembl538,476,710 - 38,479,861 (+)Ensembl
GRCm38538,319,509 - 38,322,523 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl538,319,367 - 38,322,518 (+)EnsemblGRCm38mm10GRCm38
MGSCv37538,710,748 - 38,713,549 (+)NCBIGRCm37mm9NCBIm37
MGSCv36538,607,758 - 38,610,559 (+)NCBImm8
Celera535,773,146 - 35,775,947 (+)NCBICelera
Cytogenetic Map5B3NCBI
cM Map520.4NCBI
Drd5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21472,489,347 - 72,490,774 (-)NCBI
Rnor_6.0 Ensembl1477,220,579 - 77,222,006 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01477,220,579 - 77,222,006 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01477,202,167 - 77,203,594 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41477,768,060 - 77,769,487 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11477,770,450 - 77,771,878 (-)NCBI
Celera1471,440,495 - 71,441,922 (-)NCBICelera
Cytogenetic Map14q21NCBI
Drd5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555145,450,495 - 5,452,282 (+)NCBIChiLan1.0ChiLan1.0
DRD5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.149,508,711 - 9,511,072 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl49,509,094 - 9,510,527 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v044,189,536 - 4,193,144 (+)NCBIMhudiblu_PPA_v0panPan3
DRD5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1369,621,187 - 69,623,522 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl369,621,734 - 69,623,893 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha372,173,244 - 72,175,212 (-)NCBI
ROS_Cfam_1.0370,378,089 - 70,380,057 (-)NCBI
UMICH_Zoey_3.1369,652,224 - 69,654,192 (-)NCBI
UNSW_CanFamBas_1.0369,817,637 - 69,819,605 (-)NCBI
UU_Cfam_GSD_1.0370,198,942 - 70,200,910 (-)NCBI
Drd5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528563,158,693 - 63,162,200 (-)NCBI
SpeTri2.0NW_00493647716,860,222 - 16,863,505 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DRD5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl86,180,221 - 6,181,636 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.186,180,221 - 6,182,575 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.285,694,230 - 5,696,186 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DRD5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12740,267,681 - 40,270,061 (-)NCBI
ChlSab1.1 Ensembl2740,268,235 - 40,269,671 (-)Ensembl
Vero_WHO_p1.0NW_02366604787,064,155 - 87,066,433 (-)NCBI
Drd5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475521,358,586 - 21,361,410 (-)NCBI

Position Markers
GDB:193457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3749,784,830 - 9,785,074UniSTSGRCh37
GRCh37291,872,479 - 91,872,727UniSTSGRCh37
Build 36291,236,206 - 91,236,454RGDNCBI36
Celera410,267,689 - 10,267,933RGD
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map2p11.1UniSTS
HuRef49,119,235 - 9,119,479UniSTS
GDB:305493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713109,337,950 - 109,338,490UniSTSGRCh37
GRCh3749,784,259 - 9,784,644UniSTSGRCh37
Build 3649,393,357 - 9,393,742RGDNCBI36
Celera1390,182,683 - 90,183,223UniSTS
Celera410,267,118 - 10,267,503RGD
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map13q33.3UniSTS
HuRef1094,689,177 - 94,689,725UniSTS
HuRef49,118,664 - 9,119,049UniSTS
HuRef1389,930,866 - 89,931,406UniSTS
HuRef1841,116,019 - 41,116,347UniSTS
DRD5_24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3749,784,352 - 9,785,218UniSTSGRCh37
Build 3649,393,450 - 9,394,316RGDNCBI36
Celera410,267,211 - 10,268,077RGD
HuRef49,118,757 - 9,119,623UniSTS
G65183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3749,781,487 - 9,781,600UniSTSGRCh37
Build 3649,390,585 - 9,390,698RGDNCBI36
Celera410,264,346 - 10,264,459RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,115,892 - 9,116,005UniSTS
RH69165  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:217
Count of miRNA genes:198
Interacting mature miRNAs:203
Transcripts:ENST00000304374
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.


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
High
Medium 2 2 13 1
Low 42 40 145 3 11 2 132 5 1757 23 168 39 2 1 1 114 1
Below cutoff 1227 992 676 297 455 169 1659 722 1299 149 868 769 135 419 984 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000304374   ⟹   ENSP00000306129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl49,781,634 - 9,784,009 (+)Ensembl
RefSeq Acc Id: NM_000798   ⟹   NP_000789
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,781,634 - 9,784,009 (+)NCBI
GRCh3749,783,258 - 9,785,633 (+)ENTREZGENE
Build 3649,392,701 - 9,394,731 (+)NCBI Archive
HuRef49,117,663 - 9,120,038 (+)ENTREZGENE
CHM1_149,781,174 - 9,783,549 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000789   ⟸   NM_000798
- UniProtKB: P21918 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000306129   ⟸   ENST00000304374


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
DRD5, (CT/GT/GA)n variation Blepharospasm [RCV000018251] Chr4:4p16.1-p15.3 pathogenic|risk factor
DRD5, (CA)n MARKER variation Attention deficit-hyperactivity disorder, susceptibility to [RCV000018253] Chr4:4p16.1-p15.3 risk factor
NM_000798.5(DRD5):c.262C>T (p.Leu88Phe) single nucleotide variant not specified [RCV000727613] Chr4:9782291 [GRCh38]
Chr4:9783915 [GRCh37]
Chr4:4p16.1
benign
GRCh38/hg38 4p16.1(chr4:9381969-10163409)x3 copy number gain See cases [RCV000051567] Chr4:9381969..10163409 [GRCh38]
Chr4:9383695..10165033 [GRCh37]
Chr4:8992793..9774131 [NCBI36]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|See cases [RCV000051758] Chr4:2231690..11197847 [GRCh38]
Chr4:2233417..11199471 [GRCh37]
Chr4:2203215..10808569 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.2-16.1(chr4:5455628-10640216)x1 copy number loss See cases [RCV000053262] Chr4:5455628..10640216 [GRCh38]
Chr4:5457355..10641840 [GRCh37]
Chr4:5508256..10250938 [NCBI36]
Chr4:4p16.2-16.1
pathogenic
NM_000798.4(DRD5):c.769C>T (p.Arg257Cys) single nucleotide variant Malignant melanoma [RCV000066577] Chr4:9782798 [GRCh38]
Chr4:9784422 [GRCh37]
Chr4:9393520 [NCBI36]
Chr4:4p16.1
not provided
NM_000798.4(DRD5):c.568G>T (p.Gly190Trp) single nucleotide variant Malignant melanoma [RCV000061071] Chr4:9782597 [GRCh38]
Chr4:9784221 [GRCh37]
Chr4:9393319 [NCBI36]
Chr4:4p16.1
not provided
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1
pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.1(chr4:8414872-10011846)x3 copy number gain See cases [RCV000137908] Chr4:8414872..10011846 [GRCh38]
Chr4:8416599..10013470 [GRCh37]
Chr4:8467499..9622568 [NCBI36]
Chr4:4p16.1
likely benign
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1 copy number loss See cases [RCV000141502] Chr4:4426403..17460549 [GRCh38]
Chr4:4428130..17462172 [GRCh37]
Chr4:4479031..17071270 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.1(chr4:9369290-10250666)x3 copy number gain See cases [RCV000142611] Chr4:9369290..10250666 [GRCh38]
Chr4:9371016..10252290 [GRCh37]
Chr4:8980114..9861388 [NCBI36]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.1(chr4:9500007-10147031)x3 copy number gain See cases [RCV000143287] Chr4:9500007..10147031 [GRCh38]
Chr4:9501651..10148655 [GRCh37]
Chr4:9110749..9757753 [NCBI36]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3 copy number gain See cases [RCV000240007] Chr4:6447048..20490737 [GRCh37]
Chr4:4p16.1-15.31
pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV000449078] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_000798.5(DRD5):c.1184C>T (p.Ser395Phe) single nucleotide variant not provided [RCV000267383] Chr4:9783213 [GRCh38]
Chr4:9784837 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.1(chr4:9783445-10679534)x3 copy number gain See cases [RCV000449135] Chr4:9783445..10679534 [GRCh37]
Chr4:4p16.1
likely benign
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.1(chr4:8683743-10358964)x3 copy number gain See cases [RCV000447041] Chr4:8683743..10358964 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
GRCh37/hg19 4p16.1(chr4:9688013-10869048)x3 copy number gain See cases [RCV000448440] Chr4:9688013..10869048 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1
pathogenic
GRCh37/hg19 4p16.1(chr4:9501650-10040569)x3 copy number gain See cases [RCV000512407] Chr4:9501650..10040569 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.1086C>G (p.Asn362Lys) single nucleotide variant not provided [RCV000594513] Chr4:9783115 [GRCh38]
Chr4:9784739 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p16.1(chr4:9663395-10653064)x3 copy number gain not provided [RCV000682384] Chr4:9663395..10653064 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1(chr4:9748015-10077638)x3 copy number gain not provided [RCV000682385] Chr4:9748015..10077638 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1(chr4:9501650-9953761)x3 copy number gain not provided [RCV000682383] Chr4:9501650..9953761 [GRCh37]
Chr4:4p16.1
likely benign
GRCh37/hg19 4p16.1(chr4:9485300-10274330)x0 copy number loss not provided [RCV000743359] Chr4:9485300..10274330 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9485300-10292034)x0 copy number loss not provided [RCV000743360] Chr4:9485300..10292034 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10273431)x0 copy number loss not provided [RCV000743361] Chr4:9486060..10273431 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10274994)x0 copy number loss not provided [RCV000743362] Chr4:9486060..10274994 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10276250)x0 copy number loss not provided [RCV000743363] Chr4:9486060..10276250 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10400156)x0 copy number loss not provided [RCV000743364] Chr4:9486060..10400156 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10409841)x0 copy number loss not provided [RCV000743365] Chr4:9486060..10409841 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10726103)x0 copy number loss not provided [RCV000743366] Chr4:9486060..10726103 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10727697)x0 copy number loss not provided [RCV000743367] Chr4:9486060..10727697 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9492403-10310495)x0 copy number loss not provided [RCV000743368] Chr4:9492403..10310495 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9492403-10342028)x0 copy number loss not provided [RCV000743369] Chr4:9492403..10342028 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9492403-10383005)x0 copy number loss not provided [RCV000743370] Chr4:9492403..10383005 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9626304-10274383)x0 copy number loss not provided [RCV000743371] Chr4:9626304..10274383 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9626897-11038982)x0 copy number loss not provided [RCV000743372] Chr4:9626897..11038982 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.1(chr4:9474235-10271645)x0 copy number loss not provided [RCV000743302] Chr4:9474235..10271645 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10272429)x0 copy number loss not provided [RCV000743303] Chr4:9474235..10272429 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10272591)x0 copy number loss not provided [RCV000743304] Chr4:9474235..10272591 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10272605)x0 copy number loss not provided [RCV000743305] Chr4:9474235..10272605 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10272953)x0 copy number loss not provided [RCV000743306] Chr4:9474235..10272953 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10273244)x0 copy number loss not provided [RCV000743307] Chr4:9474235..10273244 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10273836)x0 copy number loss not provided [RCV000743308] Chr4:9474235..10273836 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10274383)x0 copy number loss not provided [RCV000743309] Chr4:9474235..10274383 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10274626)x0 copy number loss not provided [RCV000743310] Chr4:9474235..10274626 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10274994)x0 copy number loss not provided [RCV000743311] Chr4:9474235..10274994 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10275470)x0 copy number loss not provided [RCV000743312] Chr4:9474235..10275470 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10283627)x0 copy number loss not provided [RCV000743313] Chr4:9474235..10283627 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10284993)x0 copy number loss not provided [RCV000743314] Chr4:9474235..10284993 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10292034)x0 copy number loss not provided [RCV000743315] Chr4:9474235..10292034 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10310495)x0 copy number loss not provided [RCV000743316] Chr4:9474235..10310495 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10311074)x0 copy number loss not provided [RCV000743317] Chr4:9474235..10311074 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10335052)x0 copy number loss not provided [RCV000743318] Chr4:9474235..10335052 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10342028)x0 copy number loss not provided [RCV000743319] Chr4:9474235..10342028 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10342723)x0 copy number loss not provided [RCV000743320] Chr4:9474235..10342723 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10394063)x0 copy number loss not provided [RCV000743321] Chr4:9474235..10394063 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10396125)x0 copy number loss not provided [RCV000743322] Chr4:9474235..10396125 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12
pathogenic
GRCh37/hg19 4p16.1(chr4:9474235-10396709)x0 copy number loss not provided [RCV000743323] Chr4:9474235..10396709 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10398081)x0 copy number loss not provided [RCV000743324] Chr4:9474235..10398081 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10399316)x0 copy number loss not provided [RCV000743325] Chr4:9474235..10399316 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10400156)x0 copy number loss not provided [RCV000743326] Chr4:9474235..10400156 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10402173)x0 copy number loss not provided [RCV000743327] Chr4:9474235..10402173 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10402457)x0 copy number loss not provided [RCV000743328] Chr4:9474235..10402457 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10419465)x0 copy number loss not provided [RCV000743329] Chr4:9474235..10419465 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10538501)x0 copy number loss not provided [RCV000743330] Chr4:9474235..10538501 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10704867)x0 copy number loss not provided [RCV000743331] Chr4:9474235..10704867 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10706422)x0 copy number loss not provided [RCV000743332] Chr4:9474235..10706422 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10730199)x0 copy number loss not provided [RCV000743333] Chr4:9474235..10730199 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10735895)x0 copy number loss not provided [RCV000743334] Chr4:9474235..10735895 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10739561)x0 copy number loss not provided [RCV000743335] Chr4:9474235..10739561 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-11016253)x0 copy number loss not provided [RCV000743336] Chr4:9474235..11016253 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-11040290)x0 copy number loss not provided [RCV000743337] Chr4:9474235..11040290 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476332-10324160)x0 copy number loss not provided [RCV000743338] Chr4:9476332..10324160 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476603-10274383)x0 copy number loss not provided [RCV000743339] Chr4:9476603..10274383 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10272429)x0 copy number loss not provided [RCV000743340] Chr4:9476926..10272429 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10274383)x0 copy number loss not provided [RCV000743341] Chr4:9476926..10274383 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10275470)x0 copy number loss not provided [RCV000743342] Chr4:9476926..10275470 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10292034)x0 copy number loss not provided [RCV000743343] Chr4:9476926..10292034 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10378602)x0 copy number loss not provided [RCV000743344] Chr4:9476926..10378602 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10396125)x0 copy number loss not provided [RCV000743345] Chr4:9476926..10396125 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10402457)x0 copy number loss not provided [RCV000743346] Chr4:9476926..10402457 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10649456)x0 copy number loss not provided [RCV000743347] Chr4:9476926..10649456 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10739561)x0 copy number loss not provided [RCV000743348] Chr4:9476926..10739561 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477103-10396125)x0 copy number loss not provided [RCV000743349] Chr4:9477103..10396125 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477442-10424323)x0 copy number loss not provided [RCV000743350] Chr4:9477442..10424323 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477503-10274279)x0 copy number loss not provided [RCV000743351] Chr4:9477503..10274279 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477503-10274626)x0 copy number loss not provided [RCV000743352] Chr4:9477503..10274626 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477503-10292034)x0 copy number loss not provided [RCV000743353] Chr4:9477503..10292034 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477503-10396125)x0 copy number loss not provided [RCV000743354] Chr4:9477503..10396125 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477503-10699551)x0 copy number loss not provided [RCV000743355] Chr4:9477503..10699551 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477503-10739561)x0 copy number loss not provided [RCV000743356] Chr4:9477503..10739561 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9480235-10335052)x0 copy number loss not provided [RCV000743357] Chr4:9480235..10335052 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9485300-10272429)x0 copy number loss not provided [RCV000743358] Chr4:9485300..10272429 [GRCh37]
Chr4:4p16.1
benign
Single allele inversion Dihydropteridine reductase deficiency [RCV000768549] Chr4:8398067..17505522 [GRCh38]
Chr4:4p16.1-15.32
pathogenic
GRCh37/hg19 4p16.1(chr4:9663649-10767260)x3 copy number gain not provided [RCV000848809] Chr4:9663649..10767260 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1(chr4:9580088-9972542)x3 copy number gain not provided [RCV000849261] Chr4:9580088..9972542 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.1(chr4:9544188-10738030)x3 copy number gain not provided [RCV001005524] Chr4:9544188..10738030 [GRCh37]
Chr4:4p16.1
likely benign
GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1 copy number loss not provided [RCV000845896] Chr4:3374195..13468480 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.1(chr4:9540691-10209966)x3 copy number gain not provided [RCV000848955] Chr4:9540691..10209966 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1 copy number loss not provided [RCV001005519] Chr4:5914109..17264668 [GRCh37]
Chr4:4p16.2-15.32
likely pathogenic
GRCh37/hg19 4p16.1(chr4:9501650-10794722)x3 copy number gain not provided [RCV001005523] Chr4:9501650..10794722 [GRCh37]
Chr4:4p16.1
likely benign
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
GRCh37/hg19 4p16.1(chr4:8724579-9953187)x3 copy number gain not provided [RCV001005522] Chr4:8724579..9953187 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
GRCh37/hg19 4p16.1(chr4:9544188-9969907)x3 copy number gain not provided [RCV001258626] Chr4:9544188..9969907 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1(chr4:9748015-10942200)x3 copy number gain not provided [RCV001259847] Chr4:9748015..10942200 [GRCh37]
Chr4:4p16.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3026 AgrOrtholog
COSMIC DRD5 COSMIC
Ensembl Genes ENSG00000169676 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000306129 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000304374 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000169676 GTEx
HGNC ID HGNC:3026 ENTREZGENE
Human Proteome Map DRD5 Human Proteome Map
InterPro Dopamine_D5_rcpt UniProtKB/Swiss-Prot
  Dopamine_rcpt UniProtKB/Swiss-Prot
  GPCR_Rhodpsn UniProtKB/Swiss-Prot
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot
KEGG Report hsa:1816 UniProtKB/Swiss-Prot
NCBI Gene 1816 ENTREZGENE
OMIM 126453 OMIM
  143465 OMIM
  606798 OMIM
Pfam 7tm_1 UniProtKB/Swiss-Prot
PharmGKB DRD5 RGD, PharmGKB
PRINTS DOPAMINED1BR UniProtKB/Swiss-Prot
  DOPAMINER UniProtKB/Swiss-Prot
  GPCRRHODOPSN UniProtKB/Swiss-Prot
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot
SMART 7TM_GPCR_Srsx UniProtKB/Swiss-Prot
UniProt DRD5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2R9S3 UniProtKB/Swiss-Prot
  Q8NEQ8 UniProtKB/Swiss-Prot