MIR185 (microRNA 185) - Rat Genome Database

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Gene: MIR185 (microRNA 185) Homo sapiens
Analyze
Symbol: MIR185
Name: microRNA 185
RGD ID: 1347667
HGNC Page HGNC:31556
Description: Enables lncRNA binding activity; mRNA 3'-UTR binding activity; and mRNA base-pairing translational repressor activity. Involved in several processes, including cellular response to cholesterol; negative regulation of biosynthetic process; and negative regulation of lipoprotein particle clearance. Located in extracellular space and extracellular vesicle.
Type: ncrna (Ensembl: miRNA)
RefSeq Status: PROVISIONAL
Previously known as: miR-185; MIRN185
RGD Orthologs
Mouse
Rat
Dog
Pig
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382220,033,139 - 20,033,220 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2220,033,139 - 20,033,220 (+)EnsemblGRCh38hg38GRCh38
GRCh372220,020,662 - 20,020,743 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362218,400,661 - 18,400,742 (+)NCBINCBI36Build 36hg18NCBI36
Celera223,871,865 - 3,871,946 (+)NCBICelera
Cytogenetic Map22q11.21NCBI
HuRef223,641,080 - 3,641,161 (+)NCBIHuRef
CHM1_12220,020,370 - 20,020,451 (+)NCBICHM1_1
T2T-CHM13v2.02220,410,752 - 20,410,833 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cellular response to cholesterol  (IGI)
cellular response to leukemia inhibitory factor  (ISO)
cholesterol homeostasis  (IDA)
miRNA-mediated gene silencing by mRNA destabilization  (IDA)
miRNA-mediated post-transcriptional gene silencing  (IDA,IEA,IGI)
negative regulation of (R)-mevalonic acid biosynthetic process  (IGI)
negative regulation of angiogenesis  (IDA)
negative regulation of B cell activation  (IMP)
negative regulation of B cell proliferation  (IMP)
negative regulation of cell migration  (IDA)
negative regulation of cholesterol biosynthetic process  (IDA,IGI)
negative regulation of ERK1 and ERK2 cascade  (IDA)
negative regulation of fatty acid biosynthetic process  (IDA)
negative regulation of gene expression  (IGI)
negative regulation of high-density lipoprotein particle clearance  (IDA)
negative regulation of low-density lipoprotein particle clearance  (IDA,IGI)
negative regulation of receptor-mediated endocytosis involved in cholesterol transport  (IGI)
negative regulation of response to drug  (IMP)
negative regulation of signal transduction  (IDA)
negative regulation of transmembrane transport  (IMP)
negative regulation of tumor necrosis factor production  (IMP)
negative regulation of vascular associated smooth muscle cell proliferation  (IDA)
negative regulation of xenobiotic detoxification by transmembrane export across the plasma membrane  (IMP)
positive regulation of macrophage derived foam cell differentiation  (IMP)
regulation of SMAD protein signal transduction  (ISO)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12554859   PMID:12554860   PMID:15800047   PMID:16381832   PMID:17604727   PMID:17616659   PMID:19688090   PMID:20158877   PMID:20167074   PMID:20603620   PMID:20889907   PMID:21037258  
PMID:21186079   PMID:21573504   PMID:21832077   PMID:21962230   PMID:22834685   PMID:23318422   PMID:23417242   PMID:23454892   PMID:23459944   PMID:23648054   PMID:23807228   PMID:23846337  
PMID:23934683   PMID:23951060   PMID:24014023   PMID:24296663   PMID:24352663   PMID:24763054   PMID:24803541   PMID:24911372   PMID:24936775   PMID:25216407   PMID:25217984   PMID:25297925  
PMID:25319390   PMID:25448984   PMID:25531324   PMID:25658748   PMID:25673182   PMID:25700976   PMID:25914460   PMID:26036598   PMID:26044809   PMID:26191199   PMID:26316588   PMID:26390174  
PMID:26458593   PMID:26523989   PMID:26577184   PMID:26617940   PMID:26631117   PMID:26646931   PMID:26694763   PMID:26747785   PMID:26940039   PMID:27137793   PMID:27392970   PMID:27453420  
PMID:27645404   PMID:27651238   PMID:27816548   PMID:27906433   PMID:28240051   PMID:28259900   PMID:28277742   PMID:28798470   PMID:29030639   PMID:29053187   PMID:29138830   PMID:29242628  
PMID:29257260   PMID:29568927   PMID:29716672   PMID:29737580   PMID:29909906   PMID:30015912   PMID:30095214   PMID:30126848   PMID:30141307   PMID:30308183   PMID:30450725   PMID:30520141  
PMID:30553445   PMID:30568281   PMID:30615124   PMID:30721745   PMID:31106532   PMID:31217502   PMID:31298399   PMID:31502570   PMID:31539133   PMID:31676070   PMID:31814881   PMID:31841454  
PMID:31850721   PMID:31989667   PMID:32077635   PMID:32232900   PMID:32270193   PMID:32366240   PMID:32382150   PMID:32467578   PMID:32514126   PMID:32554287   PMID:32633368   PMID:32687062  
PMID:32803763   PMID:32825947   PMID:32898639   PMID:32943729   PMID:33204001   PMID:33251978   PMID:33319971   PMID:33450181   PMID:33481014   PMID:33507687   PMID:33507713   PMID:33629307  
PMID:33818283   PMID:33962174   PMID:34159479   PMID:34169968   PMID:34248121   PMID:34395625   PMID:34431433   PMID:34500436   PMID:34698372   PMID:34863990   PMID:34969362   PMID:34973276  
PMID:35008715   PMID:35075501   PMID:35163550   PMID:35213250   PMID:35328023   PMID:35373434   PMID:35653494   PMID:35880624   PMID:36056431   PMID:36677874   PMID:36775902   PMID:37258203  
PMID:37639952   PMID:38246177   PMID:38270621   PMID:38426107   PMID:38740637  


Genomics

Comparative Map Data
MIR185
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382220,033,139 - 20,033,220 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2220,033,139 - 20,033,220 (+)EnsemblGRCh38hg38GRCh38
GRCh372220,020,662 - 20,020,743 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362218,400,661 - 18,400,742 (+)NCBINCBI36Build 36hg18NCBI36
Celera223,871,865 - 3,871,946 (+)NCBICelera
Cytogenetic Map22q11.21NCBI
HuRef223,641,080 - 3,641,161 (+)NCBIHuRef
CHM1_12220,020,370 - 20,020,451 (+)NCBICHM1_1
T2T-CHM13v2.02220,410,752 - 20,410,833 (+)NCBIT2T-CHM13v2.0
Mir185
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391618,145,265 - 18,145,329 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1618,145,265 - 18,145,329 (-)EnsemblGRCm39 Ensembl
GRCm381618,327,401 - 18,327,465 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1618,327,401 - 18,327,465 (-)EnsemblGRCm38mm10GRCm38
MGSCv371618,327,494 - 18,327,558 (-)NCBIGRCm37MGSCv37mm9NCBIm37
Celera1618,900,146 - 18,900,210 (-)NCBICelera
Cytogenetic Map16A3NCBI
cM Map1611.35NCBI
Mir185
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81196,169,028 - 96,169,107 (+)NCBIGRCr8
mRatBN7.21182,664,716 - 82,664,795 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1182,664,716 - 82,664,795 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1191,393,107 - 91,393,186 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01184,054,335 - 84,054,414 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01183,107,847 - 83,107,926 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01186,812,702 - 86,812,781 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1186,812,702 - 86,812,781 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01189,906,640 - 89,906,719 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1181,441,729 - 81,441,808 (+)NCBICelera
Cytogenetic Map11q23NCBI
MIR185
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12629,296,014 - 29,296,069 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2629,296,004 - 29,296,079 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2629,254,692 - 29,254,747 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02630,699,896 - 30,699,951 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12628,747,758 - 28,747,813 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02628,373,121 - 28,373,176 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02629,458,129 - 29,458,184 (-)NCBIUU_Cfam_GSD_1.0
MIR185
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1451,449,903 - 51,449,978 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11451,449,903 - 51,449,978 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21455,086,524 - 55,086,599 (+)NCBISscrofa10.2Sscrofa10.2susScr3


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x3 copy number gain See cases [RCV000133642] Chr22:18389245..21086225 [GRCh38]
Chr22:20659547..21440514 [GRCh37]
Chr22:18989547..19770514 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x1 copy number loss See cases [RCV000133643] Chr22:18389245..21086225 [GRCh38]
Chr22:20659547..21440514 [GRCh37]
Chr22:18989547..19770514 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000133890] Chr22:18339130..21151128 [GRCh38]
Chr22:18894835..21505417 [GRCh37]
Chr22:17274835..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x1 copy number loss See cases [RCV000051035] Chr22:18339130..20354644 [GRCh38]
Chr22:18919942..20708934 [GRCh37]
Chr22:17299942..19038934 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051023] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x4 copy number gain See cases [RCV000133889] Chr22:18339130..21151128 [GRCh38]
Chr22:18894835..21505417 [GRCh37]
Chr22:17274835..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000133880] Chr22:18339130..21207225 [GRCh38]
Chr22:18894835..21561514 [GRCh37]
Chr22:17274835..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000133881] Chr22:18339130..21207225 [GRCh38]
Chr22:18894835..21561514 [GRCh37]
Chr22:17274835..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000133887] Chr22:18339130..21151128 [GRCh38]
Chr22:18894835..21505417 [GRCh37]
Chr22:17274835..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 copy number loss See cases [RCV000050630] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x3 copy number gain See cases [RCV000050729] Chr22:18339130..20343532 [GRCh38]
Chr22:18919942..20659606 [GRCh37]
Chr22:17299942..18989606 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3 copy number gain See cases [RCV000133785] Chr22:16916608..20354644 [GRCh38]
Chr22:17397498..20708934 [GRCh37]
Chr22:15777498..19038934 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1 copy number loss See cases [RCV000133786] Chr22:16916608..20354644 [GRCh38]
Chr22:17397498..20708934 [GRCh37]
Chr22:15777498..19038934 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 copy number gain See cases [RCV000133682] Chr22:16916608..20343532 [GRCh38]
Chr22:17397498..20659606 [GRCh37]
Chr22:15777498..18989606 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.21(chr22:18907322-20250683)x1 copy number loss See cases [RCV000134515] Chr22:18907322..20250683 [GRCh38]
Chr22:18894835..20238206 [GRCh37]
Chr22:17274835..18618206 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x3 copy number gain See cases [RCV000134519] Chr22:18339130..21107463 [GRCh38]
Chr22:18894835..21461752 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x1 copy number loss See cases [RCV000134520] Chr22:18339130..21107463 [GRCh38]
Chr22:18894835..21461752 [GRCh37]
Chr22:17274835..19791752 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000133998] Chr22:18339130..20343532 [GRCh38]
Chr22:18894835..20659606 [GRCh37]
Chr22:17274835..18989606 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x3 copy number gain See cases [RCV000134128] Chr22:18178932..21151156 [GRCh38]
Chr22:18661699..21505445 [GRCh37]
Chr22:17041699..19835445 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x3 copy number gain See cases [RCV000134084] Chr22:18339130..21086226 [GRCh38]
Chr22:18894820..21440515 [GRCh37]
Chr22:17274820..19770515 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x1 copy number loss See cases [RCV000134085] Chr22:18339130..21086226 [GRCh38]
Chr22:18894820..21440515 [GRCh37]
Chr22:17274820..19770515 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x1 copy number loss See cases [RCV000134130] Chr22:18178932..21151156 [GRCh38]
Chr22:18661699..21505445 [GRCh37]
Chr22:17041699..19835445 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18168847-21086166)x3 copy number gain See cases [RCV000135308] Chr22:18168847..21086166 [GRCh38]
Chr22:18651614..21440455 [GRCh37]
Chr22:17031614..19770455 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18145380-21086226)x1 copy number loss See cases [RCV000134837] Chr22:18145380..21086226 [GRCh38]
Chr22:18628147..21440515 [GRCh37]
Chr22:17008147..19770515 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x3 copy number gain See cases [RCV000135733] Chr22:18932429..20324240 [GRCh38]
Chr22:18919942..20311763 [GRCh37]
Chr22:17299942..18691763 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x3 copy number gain See cases [RCV000135512] Chr22:18339130..20354644 [GRCh38]
Chr22:18919942..20708934 [GRCh37]
Chr22:17299942..19038934 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-20343532)x1 copy number loss See cases [RCV000135619] Chr22:18178957..20343532 [GRCh38]
Chr22:18661724..20659606 [GRCh37]
Chr22:17041724..18989606 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x3 copy number gain See cases [RCV000135519] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000135456] Chr22:18339130..21207225 [GRCh38]
Chr22:19058829..21561514 [GRCh37]
Chr22:17438829..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21307146)x3 copy number gain See cases [RCV000136518] Chr22:18178957..21307146 [GRCh38]
Chr22:18661724..21661435 [GRCh37]
Chr22:17041724..19991435 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18718488-20324240)x1 copy number loss See cases [RCV000136577] Chr22:18718488..20324240 [GRCh38]
Chr22:18706001..20311763 [GRCh37]
Chr22:17086001..18691763 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000136527] Chr22:18339130..21151128 [GRCh38]
Chr22:20311704..21505417 [GRCh37]
Chr22:18691704..19835417 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21003834)x3 copy number gain See cases [RCV000135898] Chr22:18339130..21003834 [GRCh38]
Chr22:18908832..21358123 [GRCh37]
Chr22:17288832..19688123 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21028664)x1 copy number loss See cases [RCV000136808] Chr22:18339130..21028664 [GRCh38]
Chr22:18896972..21382953 [GRCh37]
Chr22:17276972..19712953 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000136677] Chr22:18339130..21086225 [GRCh38]
Chr22:19058829..21440514 [GRCh37]
Chr22:17438829..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18909459-20324240)x1 copy number loss See cases [RCV000136832] Chr22:18909459..20324240 [GRCh38]
Chr22:18896972..20311763 [GRCh37]
Chr22:17276972..18691763 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21441926)x1 copy number loss See cases [RCV000136758] Chr22:18339130..21441926 [GRCh38]
Chr22:18891526..21796215 [GRCh37]
Chr22:17271526..20126215 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21107522)x1 copy number loss See cases [RCV000137504] Chr22:18178957..21107522 [GRCh38]
Chr22:18661724..21461811 [GRCh37]
Chr22:17041724..19791811 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000138169] Chr22:18339130..21107522 [GRCh38]
Chr22:18894835..21461811 [GRCh37]
Chr22:17274835..19791811 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000138187] Chr22:18339130..21454720 [GRCh38]
Chr22:18894835..21809009 [GRCh37]
Chr22:17274835..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18907322-20324261)x3 copy number gain See cases [RCV000138026] Chr22:18907322..20324261 [GRCh38]
Chr22:18894835..20311784 [GRCh37]
Chr22:17274835..18691784 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21109830)x1 copy number loss See cases [RCV000137985] Chr22:18145252..21109830 [GRCh38]
Chr22:18628019..21464119 [GRCh37]
Chr22:17008019..19794119 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21454720)x3 copy number gain See cases [RCV000137927] Chr22:18389245..21454720 [GRCh38]
Chr22:20659547..21809009 [GRCh37]
Chr22:18989547..20139009 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000137960] Chr22:18339130..21109830 [GRCh38]
Chr22:18894835..21464119 [GRCh37]
Chr22:17274835..19794119 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21109830)x1 copy number loss See cases [RCV000138671] Chr22:18178957..21109830 [GRCh38]
Chr22:18661724..21464119 [GRCh37]
Chr22:17041724..19794119 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000138354] Chr22:18339130..21109830 [GRCh38]
Chr22:18706001..21464119 [GRCh37]
Chr22:17086001..19794119 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3 copy number gain See cases [RCV000139316] Chr22:18178932..22562620 [GRCh38]
Chr22:18661699..22905025 [GRCh37]
Chr22:17041699..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151156)x3 copy number gain See cases [RCV000139000] Chr22:18339130..21151156 [GRCh38]
Chr22:18894820..21505445 [GRCh37]
Chr22:17274820..19835445 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x3 copy number gain See cases [RCV000139955] Chr22:18339130..21111373 [GRCh38]
Chr22:18916828..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1 copy number loss See cases [RCV000141233] Chr22:18339130..23480799 [GRCh38]
Chr22:20279766..23822986 [GRCh37]
Chr22:18659766..22152986 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21107463)x3 copy number gain See cases [RCV000141416] Chr22:18178957..21107463 [GRCh38]
Chr22:18661724..21461752 [GRCh37]
Chr22:17041724..19791752 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18929315-20325138)x3 copy number gain See cases [RCV000140932] Chr22:18929315..20325138 [GRCh38]
Chr22:18916828..20312661 [GRCh37]
Chr22:17296828..18692661 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000140853] Chr22:18339130..21109830 [GRCh38]
Chr22:19035323..21464119 [GRCh37]
Chr22:17415323..19794119 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101210)x1 copy number loss See cases [RCV000140773] Chr22:18339130..21101210 [GRCh38]
Chr22:18999803..21455499 [GRCh37]
Chr22:17379803..19785499 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18929329-20324335)x1 copy number loss See cases [RCV000141995] Chr22:18929329..20324335 [GRCh38]
Chr22:18916842..20311858 [GRCh37]
Chr22:17296842..18691858 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18929329-20325138)x1 copy number loss See cases [RCV000141906] Chr22:18929329..20325138 [GRCh38]
Chr22:18916842..20312661 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20686726)x1 copy number loss See cases [RCV000141972] Chr22:18339130..20686726 [GRCh38]
Chr22:18916828..21041014 [GRCh37]
Chr22:17296828..19371014 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000141704] Chr22:18339130..21111370 [GRCh38]
Chr22:18916828..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20980781)x1 copy number loss See cases [RCV000141782] Chr22:18339130..20980781 [GRCh38]
Chr22:20277314..21335070 [GRCh37]
Chr22:18657314..19665070 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18157962-21111370)x3 copy number gain See cases [RCV000141737] Chr22:18157962..21111370 [GRCh38]
Chr22:18640729..21465659 [GRCh37]
Chr22:17020729..19795659 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21450597)x1 copy number loss See cases [RCV000141677] Chr22:18339130..21450597 [GRCh38]
Chr22:18916842..21804886 [GRCh37]
Chr22:17296842..20134886 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18166089-21111373)x1 copy number loss See cases [RCV000142253] Chr22:18166089..21111373 [GRCh38]
Chr22:18648856..21465662 [GRCh37]
Chr22:17028856..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000142073] Chr22:18339130..21111370 [GRCh38]
Chr22:19024656..21465659 [GRCh37]
Chr22:17404656..19795659 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18161474-21111373)x1 copy number loss See cases [RCV000142151] Chr22:18161474..21111373 [GRCh38]
Chr22:18644241..21465662 [GRCh37]
Chr22:17024241..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21109830)x1 copy number loss See cases [RCV000142988] Chr22:18389245..21109830 [GRCh38]
Chr22:20659547..21464119 [GRCh37]
Chr22:18989547..19794119 [NCBI36]
Chr22:22q11.21		 likely pathogenic|uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000142546] Chr22:18339130..20343532 [GRCh38]
Chr22:18919942..20659606 [GRCh37]
Chr22:17299942..18989606 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21151128)x1 copy number loss See cases [RCV000142670] Chr22:18389245..21151128 [GRCh38]
Chr22:20659547..21505417 [GRCh37]
Chr22:18989547..19835417 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18178957-21454720)x1 copy number loss See cases [RCV000142783] Chr22:18178957..21454720 [GRCh38]
Chr22:18661724..21809009 [GRCh37]
Chr22:17041724..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21307146)x1 copy number loss See cases [RCV000142734] Chr22:18339130..21307146 [GRCh38]
Chr22:18765085..21661435 [GRCh37]
Chr22:17145085..19991435 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3 copy number gain See cases [RCV000142641] Chr22:18339130..21447315 [GRCh38]
Chr22:18919942..21801604 [GRCh37]
Chr22:17299942..20131604 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143362] Chr22:18339130..21111373 [GRCh38]
Chr22:18916827..21465662 [GRCh37]
Chr22:17296827..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 copy number gain See cases [RCV000143391] Chr22:18339130..21111370 [GRCh38]
Chr22:18916828..21465659 [GRCh37]
Chr22:17296828..19795659 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143442] Chr22:18339130..21111373 [GRCh38]
Chr22:18970561..21465662 [GRCh37]
Chr22:17350561..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143225] Chr22:18339130..21111373 [GRCh38]
Chr22:18916842..21465662 [GRCh37]
Chr22:17296842..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000143293] Chr22:18339130..21111370 [GRCh38]
Chr22:18876630..21465659 [GRCh37]
Chr22:17256630..19795659 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 copy number gain See cases [RCV000143229] Chr22:18339130..21111370 [GRCh38]
Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000143234] Chr22:18339130..21111370 [GRCh38]
Chr22:18916842..21465659 [GRCh37]
Chr22:17296842..19795659 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143126] Chr22:18339130..21111373 [GRCh38]
Chr22:18916828..21465662 [GRCh37]
Chr22:17296828..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 copy number loss See cases [RCV000148086] Chr22:18339130..20671425 [GRCh38]
Chr22:18706001..21025713 [GRCh37]
Chr22:17086001..19355713 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000148047] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18929329-20325138)x3 copy number gain See cases [RCV000143506] Chr22:18929329..20325138 [GRCh38]
Chr22:18916842..20312661 [GRCh37]
Chr22:17296842..18692661 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000148287] Chr22:18339130..20343532 [GRCh38]
Chr22:18706001..20659606 [GRCh37]
Chr22:17086001..18989606 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3 copy number gain See cases [RCV000148257] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000148102] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000148103] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000148104] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000148206] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000148160] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000148136] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x1 copy number loss See cases [RCV000148168] Chr22:18932429..20324240 [GRCh38]
Chr22:18919942..20311763 [GRCh37]
Chr22:17299942..18691763 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1 copy number loss See cases [RCV000148140] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 copy number loss See cases [RCV000148178] Chr22:18145252..21151128 [GRCh38]
Chr22:18628019..21505417 [GRCh37]
Chr22:17008019..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1 copy number loss See cases [RCV000148098] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1 copy number loss See cases [RCV000148186] Chr22:18178957..21207225 [GRCh38]
Chr22:18661724..21561514 [GRCh37]
Chr22:17041724..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000148100] Chr22:18339130..21151128 [GRCh38]
Chr22:18706001..21505417 [GRCh37]
Chr22:17086001..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000148101] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x3 copy number gain See cases [RCV000051273] Chr22:18167908..21101267 [GRCh38]
Chr22:18650675..21455556 [GRCh37]
Chr22:17030675..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x1 copy number loss See cases [RCV000051275] Chr22:18167908..21101267 [GRCh38]
Chr22:18650675..21455556 [GRCh37]
Chr22:17030675..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x3 copy number gain See cases [RCV000051276] Chr22:18177786..21101267 [GRCh38]
Chr22:18660553..21455556 [GRCh37]
Chr22:17040553..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x1 copy number loss See cases [RCV000051278] Chr22:18177786..21101267 [GRCh38]
Chr22:18660553..21455556 [GRCh37]
Chr22:17040553..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1 copy number loss See cases [RCV000051283] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18188862-21182552)x1 copy number loss See cases [RCV000051286] Chr22:18188862..21182552 [GRCh38]
Chr22:18671629..21536841 [GRCh37]
Chr22:17051629..19866841 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000051295] Chr22:18339130..21151269 [GRCh38]
Chr22:18705801..21505558 [GRCh37]
Chr22:17085801..19835558 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051296]|See cases [RCV000051296] Chr22:18339130..21086366 [GRCh38]
Chr22:18705801..21440655 [GRCh37]
Chr22:17085801..19770655 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000051297] Chr22:18339130..20343532 [GRCh38]
Chr22:18706001..20659606 [GRCh37]
Chr22:17086001..18989606 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 copy number loss See cases [RCV000051298] Chr22:18339130..21454720 [GRCh38]
Chr22:18706001..21809009 [GRCh37]
Chr22:17086001..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18886943-20318794)x1 copy number loss See cases [RCV000051299] Chr22:18886943..20318794 [GRCh38]
Chr22:18874456..20306317 [GRCh37]
Chr22:17254456..18686317 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18902758-20340590)x1 copy number loss See cases [RCV000051300] Chr22:18902758..20340590 [GRCh38]
Chr22:18890271..20328113 [GRCh37]
Chr22:17270271..18708113 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000051301] Chr22:18339130..21107522 [GRCh38]
Chr22:18890271..21461811 [GRCh37]
Chr22:17270271..19791811 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000051319] Chr22:18339130..20343532 [GRCh38]
Chr22:18890271..20659606 [GRCh37]
Chr22:17270271..18989606 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21040441)x1 copy number loss See cases [RCV000051321] Chr22:18339130..21040441 [GRCh38]
Chr22:18890271..21394730 [GRCh37]
Chr22:17270271..19724730 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051323] Chr22:18339130..21086225 [GRCh38]
Chr22:18896972..21440514 [GRCh37]
Chr22:17276972..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000051324] Chr22:18339130..21086225 [GRCh38]
Chr22:18896972..21440514 [GRCh37]
Chr22:17276972..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 copy number loss See cases [RCV000051325] Chr22:18339130..21086366 [GRCh38]
Chr22:18919742..21440655 [GRCh37]
Chr22:17299742..19770655 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671566)x1 copy number loss See cases [RCV000051327] Chr22:18339130..20671566 [GRCh38]
Chr22:18919742..21025854 [GRCh37]
Chr22:17299742..19355854 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000051328] Chr22:18339130..21151269 [GRCh38]
Chr22:18919742..21505558 [GRCh37]
Chr22:17299742..19835558 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000050388] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3 copy number gain See cases [RCV000051170] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000050991] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000050550] Chr22:18339130..21151128 [GRCh38]
Chr22:18706001..21505417 [GRCh37]
Chr22:17086001..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3 copy number gain See cases [RCV000050858] Chr22:16916608..20324240 [GRCh38]
Chr22:17397498..20311763 [GRCh37]
Chr22:15777498..18691763 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3 copy number gain See cases [RCV000050614] Chr22:16916608..21151128 [GRCh38]
Chr22:17397498..21505417 [GRCh37]
Chr22:15777498..19835417 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1 copy number loss See cases [RCV000050859] Chr22:16916608..20324240 [GRCh38]
Chr22:17397498..20311763 [GRCh37]
Chr22:15777498..18691763 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000051024] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1 copy number loss See cases [RCV000051270] Chr22:16538125..20363937 [GRCh38]
Chr22:17019015..20718227 [GRCh37]
Chr22:15399015..19048227 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18145052-21086366)x1 copy number loss See cases [RCV000051271] Chr22:18145052..21086366 [GRCh38]
Chr22:18627819..21440655 [GRCh37]
Chr22:17007819..19770655 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 copy number loss See cases [RCV000051272] Chr22:18145252..21151128 [GRCh38]
Chr22:18628019..21505417 [GRCh37]
Chr22:17008019..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21207225)x1 copy number loss See cases [RCV000050893] Chr22:18389245..21207225 [GRCh38]
Chr22:20659547..21561514 [GRCh37]
Chr22:18989547..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000050271] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000050273] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 copy number loss See cases [RCV000050290] Chr22:18339130..20671425 [GRCh38]
Chr22:18706001..21025713 [GRCh37]
Chr22:17086001..19355713 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-20324240)x3 copy number gain See cases [RCV000051158] Chr22:18178957..20324240 [GRCh38]
Chr22:18661724..20311763 [GRCh37]
Chr22:17041724..18691763 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18169870-21559889)x3 copy number gain See cases [RCV000051918] Chr22:18169870..21559889 [GRCh38]
Chr22:18652637..21914178 [GRCh37]
Chr22:17032637..20244178 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21056995)x3 copy number gain See cases [RCV000051919] Chr22:18339130..21056995 [GRCh38]
Chr22:18704554..21411284 [GRCh37]
Chr22:17084554..19741284 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207381)x3 copy number gain See cases [RCV000051920] Chr22:18339130..21207381 [GRCh38]
Chr22:18705801..21561670 [GRCh37]
Chr22:17085801..19891670 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000051937] Chr22:18339130..21151128 [GRCh38]
Chr22:18890271..21505417 [GRCh37]
Chr22:17270271..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000051938] Chr22:18339130..21207225 [GRCh38]
Chr22:18890271..21561514 [GRCh37]
Chr22:17270271..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21444466)x3 copy number gain See cases [RCV000051939] Chr22:18339130..21444466 [GRCh38]
Chr22:18909038..21798755 [GRCh37]
Chr22:17289038..20128755 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051940] Chr22:18339130..21086225 [GRCh38]
Chr22:18909038..21440514 [GRCh37]
Chr22:17289038..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18932229-20324381)x3 copy number gain See cases [RCV000051941] Chr22:18932229..20324381 [GRCh38]
Chr22:18919742..20311904 [GRCh37]
Chr22:17299742..18691904 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3 copy number gain See cases [RCV000051942] Chr22:18339130..21101267 [GRCh38]
Chr22:18950766..21455556 [GRCh37]
Chr22:17330766..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20588575)x3 copy number gain See cases [RCV000051943] Chr22:18339130..20588575 [GRCh38]
Chr22:19168758..20942862 [GRCh37]
Chr22:17519027..19272862 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000051944] Chr22:18339130..21207225 [GRCh38]
Chr22:20402633..21561514 [GRCh37]
Chr22:18782633..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000053047] Chr22:18339130..21107522 [GRCh38]
Chr22:19035017..21461811 [GRCh37]
Chr22:17415017..19791811 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053048]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053048]|See cases [RCV000053048] Chr22:18339130..21151128 [GRCh38]
Chr22:19358153..21505417 [GRCh37]
Chr22:17738153..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 copy number loss See cases [RCV000053003] Chr22:18339130..20671425 [GRCh38]
Chr22:18919942..21025713 [GRCh37]
Chr22:17299942..19355713 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x1 copy number loss See cases [RCV000053004] Chr22:18932429..20324240 [GRCh38]
Chr22:18919942..20311763 [GRCh37]
Chr22:17299942..18691763 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000053006] Chr22:18339130..21151269 [GRCh38]
Chr22:18919942..21505558 [GRCh37]
Chr22:17299942..19835558 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18950648-20241494)x1 copy number loss See cases [RCV000053009] Chr22:18950648..20241494 [GRCh38]
Chr22:18938161..20229017 [GRCh37]
Chr22:17318161..18609017 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3 copy number gain See cases [RCV000053012] Chr22:18339130..21101267 [GRCh38]
Chr22:18938161..21455556 [GRCh37]
Chr22:17318161..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053015] Chr22:18339130..21101267 [GRCh38]
Chr22:18938161..21455556 [GRCh37]
Chr22:17318161..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20641963)x1 copy number loss See cases [RCV000053025] Chr22:18339130..20641963 [GRCh38]
Chr22:18938161..20996250 [GRCh37]
Chr22:17318161..19326250 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053027] Chr22:18339130..21101267 [GRCh38]
Chr22:18962313..21455556 [GRCh37]
Chr22:17342313..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053029] Chr22:18339130..21101267 [GRCh38]
Chr22:18999803..21455556 [GRCh37]
Chr22:17379803..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000053032] Chr22:18339130..21151128 [GRCh38]
Chr22:19029602..21505417 [GRCh37]
Chr22:17409602..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|See cases [RCV000053103] Chr22:16916608..20343532 [GRCh38]
Chr22:17397498..20402677 [GRCh37]
Chr22:15777498..18782677 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 copy number gain See cases [RCV000053104] Chr22:16916608..24358936 [GRCh38]
Chr22:17397498..24754904 [GRCh37]
Chr22:15777498..23084904 [NCBI36]
Chr22:22q11.1-11.23		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1 copy number loss See cases [RCV000050360] Chr22:18178957..21207225 [GRCh38]
Chr22:18661724..21561514 [GRCh37]
Chr22:17041724..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000050628] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000050992] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1 copy number loss See cases [RCV000051171] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000050387] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
Single allele deletion 22q11.2 deletion syndrome [RCV003221321] Chr22:18274663..21110254 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.18948676_21110520dup duplication Chromosome 22q11.2 microduplication syndrome [RCV003313910] Chr22:18948676..21110520 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18159879)_(21387988_?)del deletion Schizophrenia [RCV000754241] Chr22:18159879..21387988 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18163926)_(21277123_?)del deletion Schizophrenia [RCV000754242] Chr22:18163926..21277123 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18802709)_(21343709_?)del deletion Schizophrenia [RCV000754243] Chr22:18802709..21343709 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18832909)_(21123588_?)del deletion Schizophrenia [RCV000754244] Chr22:18832909..21123588 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18880919)_(20346734_?)del deletion Schizophrenia [RCV000754246] Chr22:18880919..20346734 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18880919)_(21123588_?)del deletion Schizophrenia [RCV000754247] Chr22:18880919..21123588 [GRCh38]
Chr22:22q11.21		 pathogenic
Single allele duplication Autism [RCV000754248] Chr22:18904453..20324329 [GRCh38]
Chr22:22q11.21		 pathogenic
Single allele duplication Autism [RCV000754249] Chr22:18904453..21277123 [GRCh38]
Chr22:22q11.21		 pathogenic
Single allele duplication Autism [RCV000754250] Chr22:19295635..21510330 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18846939)_(21221413_?)del deletion Schizophrenia [RCV000754245] Chr22:18846939..21221413 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18159879)_(21362822_?)del deletion Schizophrenia [RCV000754240] Chr22:18159879..21362822 [GRCh38]
Chr22:22q11.21		 pathogenic
Single allele deletion Chromosome 22q11.2 deletion syndrome, distal [RCV003232577] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21		 pathogenic
Single allele duplication Chromosome 22q11.2 microduplication syndrome [RCV003232578] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21		 pathogenic
Single allele deletion Velocardiofacial syndrome [RCV002247726] Chr22:18948677..21110520 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.18948676_21110520del deletion Velocardiofacial syndrome [RCV003318485] Chr22:18948676..21110520 [GRCh38]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1 copy number loss DiGeorge syndrome [RCV003327705] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3 copy number gain Microcephaly-digital anomalies-intellectual disability syndrome [RCV003444168] Chr22:18856290..21070117 [GRCh38]
Chr22:22q11.21		 pathogenic
miRNA Target Status (No longer updated)

Confirmed Targets
Gene TargetMature miRNAMethod NameResult TypeData TypeSupport TypePMID
EPAS1hsa-miR-185-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCRFunctional MTI22745131
ARhsa-miR-185-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23417242
SCARB1hsa-miR-185-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23459944
CDK6hsa-miR-185-5pMirecordsexternal_info{changed}NA19688090
ARhsa-miR-185-5pOncomiRDBexternal_infoNANA23417242
DNMT1hsa-miR-185-5pOncomiRDBexternal_infoNANA23318422
DNMT1hsa-miR-185-5pOncomiRDBexternal_infoNANA21962230
RHOAhsa-miR-185-5pOncomiRDBexternal_infoNANA21186079
SIX1hsa-miR-185-5pOncomiRDBexternal_infoNANA20603620
RHOAhsa-miR-185-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI21186079
CCNE1hsa-miR-185-5pMirtarbaseexternal_infoFlow//Immunoblot//Microarray//qRT-PCRFunctional MTI (Weak)19688090
CDK6hsa-miR-185-5pMirtarbaseexternal_infoFlow//Immunoblot//Microarray//qRT-PCR//Western bloFunctional MTI19688090
CDK6hsa-miR-185-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
SIX1hsa-miR-185-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Quantitative pFunctional MTI20603620
NTRK3hsa-miR-185-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21143953
DNMT1hsa-miR-185-5pMirtarbaseexternal_infoImmunoprecipitaion//Luciferase reporter assay//MicFunctional MTI21962230

Predicted Targets
Summary Value
Count of predictions:120411
Count of gene targets:27672
Count of transcripts:81324
Interacting mature miRNAs:hsa-miR-185-3p, hsa-miR-185-5p
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1581529BP71_HBlood pressure QTL 71 (human)20.001Blood pressurepulse pressure221109496637094966Human
2289428BW313_HBody weight QTL 313 (human)2.090.0015Body weightBMI221134428437344284Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
5 52 24 21 113 36 103 1 14 143 16 53 252 189 24 79 41 58 81 2

Sequence


Ensembl Acc Id: ENST00000385288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,033,139 - 20,033,220 (+)Ensembl
RefSeq Acc Id: NR_029706
RefSeq Status: PROVISIONAL
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,033,139 - 20,033,220 (+)NCBI
GRCh372220,020,662 - 20,020,743 (+)RGD
Celera223,871,865 - 3,871,946 (+)RGD
HuRef223,641,080 - 3,641,161 (+)ENTREZGENE
CHM1_12220,020,370 - 20,020,451 (+)NCBI
T2T-CHM13v2.02220,410,752 - 20,410,833 (+)NCBI
Sequence:
Promoters
RGD ID:6799953
Promoter ID:HG_KWN:41570
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000385288
Position:
Human AssemblyChrPosition (strand)Source
Build 362218,399,846 - 18,400,497 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31556 AgrOrtholog
COSMIC MIR185 COSMIC
Ensembl Genes ENSG00000208023 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000385288 ENTREZGENE
GTEx ENSG00000208023 GTEx
HGNC ID HGNC:31556 ENTREZGENE
Human Proteome Map MIR185 Human Proteome Map
miRBase MI0000482 ENTREZGENE
NCBI Gene 406961 ENTREZGENE
OMIM 615576 OMIM
PharmGKB PA164722533 PharmGKB
RNAcentral URS00002367FA RNACentral
  URS00004176D4 RNACentral
  URS000075D261 RNACentral