MIR214 (microRNA 214) - Rat Genome Database

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Gene: MIR214 (microRNA 214) Homo sapiens
Analyze
Symbol: MIR214
Name: microRNA 214
RGD ID: 1347052
HGNC Page HGNC:31591
Description: Enables mRNA base-pairing post-transcriptional repressor activity. Involved in several processes, including negative regulation of necroptotic process; negative regulation of vascular associated smooth muscle cell migration; and regulation of vascular associated smooth muscle cell proliferation. Located in nucleus and perinuclear region of cytoplasm. Part of extracellular vesicle.
Type: ncrna
RefSeq Status: PROVISIONAL
Previously known as: mir-214; MIRN214; miRNA214
RGD Orthologs
Mouse
Rat
Dog
Pig
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381172,138,798 - 172,138,907 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1172,138,798 - 172,138,907 (-)EnsemblGRCh38hg38GRCh38
GRCh371172,107,938 - 172,108,047 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361170,374,560 - 170,374,669 (-)NCBINCBI36hg18NCBI36
Celera1145,217,369 - 145,217,478 (-)NCBI
Cytogenetic Map1q24.3NCBI
HuRef1143,331,930 - 143,332,039 (-)NCBIHuRef
CHM1_11173,530,115 - 173,530,224 (-)NCBICHM1_1
T2T-CHM13v2.01171,495,517 - 171,495,626 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cellular response to amino acid stimulus  (ISO)
cellular response to forskolin  (ISO)
cellular response to hypoxia  (IDA,ISO)
cellular response to inorganic substance  (ISO)
cellular response to mechanical stimulus  (ISO)
fatty acid oxidation  (ISO)
miRNA-mediated gene silencing  (IDA,IEA,IMP,ISO)
miRNA-mediated gene silencing by mRNA destabilization  (IDA)
negative regulation of actin filament polymerization  (ISS)
negative regulation of angiogenesis  (IDA,ISS)
negative regulation of BMP secretion  (IDA)
negative regulation of BMP signaling pathway  (IMP)
negative regulation of cardiac muscle hypertrophy in response to stress  (ISS)
negative regulation of cell cycle  (ISO)
negative regulation of cell migration  (IDA)
negative regulation of cell population proliferation  (IDA)
negative regulation of fatty acid oxidation  (ISO)
negative regulation of gene expression  (IDA,IMP)
negative regulation of lamellipodium assembly  (ISS)
negative regulation of necroptotic process  (IDA)
negative regulation of osteoblast differentiation  (IMP,ISO)
negative regulation of vascular associated smooth muscle cell migration  (IMP)
negative regulation of vascular associated smooth muscle cell proliferation  (IMP)
positive regulation of cardiac muscle hypertrophy in response to stress  (ISS)
positive regulation of connective tissue replacement  (ISS)
positive regulation of G1/S transition of mitotic cell cycle  (IDA)
positive regulation of regulatory T cell differentiation  (ISO)
positive regulation of skeletal muscle tissue development  (ISO)
positive regulation of vascular associated smooth muscle cell dedifferentiation  (IDA)
positive regulation of vascular associated smooth muscle cell proliferation  (IDA)
response to oxygen levels  (ISO)
type B pancreatic cell development  (ISO)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:12624257   PMID:16381832   PMID:17108080   PMID:17604727   PMID:18199536   PMID:18230126   PMID:19733659   PMID:19859982   PMID:20400975   PMID:21037258   PMID:21216304   PMID:21228352  
PMID:21468029   PMID:21525938   PMID:21828058   PMID:22048026   PMID:22249219   PMID:22350790   PMID:22359598   PMID:22399294   PMID:22540680   PMID:22613005   PMID:22828925   PMID:22867052  
PMID:22929890   PMID:22962603   PMID:22973051   PMID:22982546   PMID:23068095   PMID:23100276   PMID:23187003   PMID:23223004   PMID:23238222   PMID:23301758   PMID:23337879   PMID:23360823  
PMID:23408966   PMID:23479198   PMID:23532734   PMID:23624869   PMID:23667173   PMID:23905773   PMID:23929716   PMID:23962428   PMID:23965969   PMID:24011070   PMID:24038809   PMID:24122827  
PMID:24158985   PMID:24167554   PMID:24277415   PMID:24465927   PMID:24614175   PMID:24616020   PMID:24760176   PMID:24802407   PMID:24811402   PMID:25085702   PMID:25223704   PMID:25231260  
PMID:25310480   PMID:25361012   PMID:25483088   PMID:25501033   PMID:25556274   PMID:25575606   PMID:25591843   PMID:25656649   PMID:25738546   PMID:25815880   PMID:25876995   PMID:25910754  
PMID:25962755   PMID:25975233   PMID:25998065   PMID:26055138   PMID:26176991   PMID:26252022   PMID:26299367   PMID:26307536   PMID:26462018   PMID:26498144   PMID:26563334   PMID:26631297  
PMID:26666173   PMID:26718213   PMID:26722446   PMID:26791102   PMID:26918939   PMID:26947250   PMID:26951965   PMID:26973267   PMID:26995755   PMID:27109339   PMID:27129291   PMID:27144530  
PMID:27162619   PMID:27226530   PMID:27323028   PMID:27328731   PMID:27422604   PMID:27494742   PMID:27537384   PMID:27619677   PMID:27693451   PMID:27766406   PMID:27811858   PMID:27840941  
PMID:27927633   PMID:28000845   PMID:28076844   PMID:28081735   PMID:28109866   PMID:28137590   PMID:28244850   PMID:28245169   PMID:28260089   PMID:28290615   PMID:28396596   PMID:28428333  
PMID:28431233   PMID:28438567   PMID:28535504   PMID:28559385   PMID:28627449   PMID:28638226   PMID:28684904   PMID:28752100   PMID:28798470   PMID:28800314   PMID:28879675   PMID:28888077  
PMID:28888871   PMID:28946213   PMID:28954387   PMID:28980925   PMID:29023799   PMID:29036598   PMID:29093516   PMID:29129783   PMID:29138813   PMID:29152645   PMID:29164587   PMID:29277613  
PMID:29328435   PMID:29398686   PMID:29486472   PMID:29507184   PMID:29532880   PMID:29621773   PMID:29660008   PMID:29693173   PMID:29862267   PMID:29864623   PMID:29886375   PMID:29915227  
PMID:29916551   PMID:29952653   PMID:29973656   PMID:30049682   PMID:30076721   PMID:30090984   PMID:30178836   PMID:30272290   PMID:30342849   PMID:30357841   PMID:30394221   PMID:30458987  
PMID:30468464   PMID:30519780   PMID:30646925   PMID:30659947   PMID:30689553   PMID:30698996   PMID:30703347   PMID:30729703   PMID:30794970   PMID:30822775   PMID:30915129   PMID:30942417  
PMID:30955870   PMID:31056782   PMID:31058194   PMID:31059086   PMID:31148212   PMID:31161373   PMID:31173203   PMID:31175094   PMID:31180556   PMID:31213582   PMID:31273925   PMID:31275988  
PMID:31276465   PMID:31294443   PMID:31320713   PMID:31338875   PMID:31403941   PMID:31539134   PMID:31607289   PMID:31634561   PMID:31642557   PMID:31646574   PMID:31677796   PMID:31694696  
PMID:31731055   PMID:31755246   PMID:31844419   PMID:31858541   PMID:31885100   PMID:31926154   PMID:31957829   PMID:31960438   PMID:32057034   PMID:32073886   PMID:32093712   PMID:32101017  
PMID:32106739   PMID:32113857   PMID:32131653   PMID:32196604   PMID:32222722   PMID:32311343   PMID:32329847   PMID:32376266   PMID:32395888   PMID:32396525   PMID:32410577   PMID:32417846  
PMID:32561161   PMID:32663252   PMID:32664737   PMID:32735806   PMID:32795540   PMID:32815529   PMID:32827544   PMID:32877980   PMID:32901357   PMID:32920730   PMID:32975231   PMID:33000202  
PMID:33048316   PMID:33076979   PMID:33078654   PMID:33226411   PMID:33274678   PMID:33280526   PMID:33306987   PMID:33340658   PMID:33416104   PMID:33432840   PMID:33635564   PMID:33714889  
PMID:33719810   PMID:33795657   PMID:33818550   PMID:34107348   PMID:34156885   PMID:34268979   PMID:34326690   PMID:34327240   PMID:34360002   PMID:34427853   PMID:34546403   PMID:34575957  
PMID:34606403   PMID:34612550   PMID:34636395   PMID:34652251   PMID:34705617   PMID:34720049   PMID:34753831   PMID:34842180   PMID:34856848   PMID:34863188   PMID:34943783   PMID:35005835  
PMID:35059924   PMID:35068341   PMID:35115487   PMID:35490917   PMID:35593682   PMID:35650159   PMID:35809332  


Genomics

Comparative Map Data
MIR214
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381172,138,798 - 172,138,907 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1172,138,798 - 172,138,907 (-)EnsemblGRCh38hg38GRCh38
GRCh371172,107,938 - 172,108,047 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361170,374,560 - 170,374,669 (-)NCBINCBI36hg18NCBI36
Celera1145,217,369 - 145,217,478 (-)NCBI
Cytogenetic Map1q24.3NCBI
HuRef1143,331,930 - 143,332,039 (-)NCBIHuRef
CHM1_11173,530,115 - 173,530,224 (-)NCBICHM1_1
T2T-CHM13v2.01171,495,517 - 171,495,626 (-)NCBI
Mir214
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391162,050,937 - 162,051,046 (+)NCBIGRCm39mm39
GRCm39 Ensembl1162,050,937 - 162,051,046 (+)Ensembl
GRCm381162,223,368 - 162,223,477 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1162,223,368 - 162,223,477 (+)EnsemblGRCm38mm10GRCm38
MGSCv371164,153,499 - 164,153,608 (+)NCBIGRCm37mm9NCBIm37
Celera1164,673,727 - 164,673,836 (+)NCBICelera
Cytogenetic Map1H2.1NCBI
Mir214
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21374,588,374 - 74,588,481 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1374,588,372 - 74,588,481 (+)Ensembl
Rnor_6.01380,130,905 - 80,131,014 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01385,024,815 - 85,024,924 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Cytogenetic Map13q22NCBI
MIR214
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1726,818,559 - 26,818,668 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl726,818,559 - 26,818,670 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha726,349,187 - 26,349,296 (+)NCBI
ROS_Cfam_1.0726,569,331 - 26,569,440 (+)NCBI
UMICH_Zoey_3.1726,480,256 - 26,480,365 (+)NCBI
UNSW_CanFamBas_1.0726,551,084 - 26,551,193 (+)NCBI
UU_Cfam_GSD_1.0726,701,038 - 26,701,147 (+)NCBI
MIR214
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9114,527,990 - 114,528,101 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19114,527,992 - 114,528,101 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29126,099,461 - 126,099,570 (-)NCBISscrofa10.2Sscrofa10.2susScr3

miRNA Target Status

Confirmed Targets
Gene TargetMature miRNAMethod NameResult TypeData TypeSupport TypePMID
EZH2hsa-miR-214-3pMirtarbaseexternal_infoLuciferase reporter assay//Northern blotFunctional MTI19818710
XBP1hsa-miR-214-3pMirtarbaseexternal_infoELISA//Flow//Luciferase reporter assay//qRT-PCR//WFunctional MTI22359598
PTENhsa-miR-214-3pMirtarbaseexternal_infoWestern blot//qRT-PCR//Luciferase reporter assay//Functional MTI18199536
PTENhsa-miR-214-3pMirtarbaseexternal_infoLuciferase reporter assay//Microarray//qRT-PCR//WeFunctional MTI20548023
PTENhsa-miR-214-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI21228352
DAPK1hsa-miR-214-3pMirtarbaseexternal_infoMicroarray//qRT-PCRFunctional MTI (Weak)19435428
MAP2K3hsa-miR-214-3pMirtarbaseexternal_infoGFP reporter assay//Microarray//qRT-PCR//Western bFunctional MTI19859982
POU4F2hsa-miR-214-3pMirtarbaseexternal_infoFlow//GFP reporter assay//Northern blot//qRT-PCR//Functional MTI20609388
PLXNB1hsa-miR-214-3pMirtarbaseexternal_infoGFP reporter assay//Immunohistochemistry//qRT-PCR/Functional MTI21216304
SRGAP1hsa-miR-214-3pMirtarbaseexternal_infoIn situ hybridization//Luciferase reporter assay//Functional MTI21276775
QKIhsa-miR-214-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22227154
TWIST1hsa-miR-214-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22540680
TP53hsa-miR-214-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22927443
TP53hsa-miR-214-3pMirtarbaseexternal_infoReporter assayFunctional MTI21217645
CTNNB1hsa-miR-214-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23068095
ATF4hsa-miR-214-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23223004
BCL2L2hsa-miR-214-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI23337879
SRGAP2hsa-miR-214-3pMirtarbaseexternal_infoReporter assayFunctional MTI21276775
PSMD10hsa-miR-214-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23100276
PTENhsa-miR-214-3pTarbaseexternal_infoReporter GenePOSITIVE
AHSA1hsa-miR-214-3pTarbaseexternal_infoMicroarrayPOSITIVE
AHSA1hsa-miR-214-3pTarbaseexternal_infoOtherPOSITIVE
MAP2K3hsa-miR-214-3pTarbaseexternal_infoqPCRPOSITIVE
PTENhsa-miR-214-3pMirecordsexternal_info{unchanged}NA18199536
PLXNB1hsa-miR-214-3pMirtarbaseexternal_infoMicroarray;OtherFunctional MTI (Weak)19859982
EZH2hsa-miR-214-3pOncomiRDBexternal_infoNANA22962603
TP53hsa-miR-214-3pOncomiRDBexternal_infoNANA22927443
HDGFhsa-miR-214-3pOncomiRDBexternal_infoNANA22613005
TWIST1hsa-miR-214-3pOncomiRDBexternal_infoNANA22540680
GALNT7hsa-miR-214-3pOncomiRDBexternal_infoNANA22399294
EZH2hsa-miR-214-3pOncomiRDBexternal_infoNANA21828058
TFAP2Chsa-miR-214-3pOncomiRDBexternal_infoNANA21468029
PLXNB1hsa-miR-214-3pOncomiRDBexternal_infoNANA21216304
ING4hsa-miR-214-3pOncomiRDBexternal_infoNANA21106054
MAP2K3hsa-miR-214-3pOncomiRDBexternal_infoNANA19859982
PTENhsa-miR-214-3pOncomiRDBexternal_infoNANA18199536
XBP1hsa-miR-214-3pOncomiRDBexternal_infoNANA22359598

Predicted Targets
Summary Value
Count of predictions:65667
Count of gene targets:19672
Count of transcripts:48435
Interacting mature miRNAs:hsa-miR-214-3p, hsa-miR-214-5p
Prediction methods:Microtar, Miranda, Pita, Pita,Targetscan, 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


Sequence


Reference Sequences
RefSeq Acc Id: ENST00000385214
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1172,138,798 - 172,138,907 (-)Ensembl
RefSeq Acc Id: NR_029627
RefSeq Status: PROVISIONAL
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381172,138,798 - 172,138,907 (-)NCBI
GRCh371172,107,938 - 172,108,047 (-)RGD
Celera1145,217,369 - 145,217,478 (-)RGD
HuRef1143,331,930 - 143,332,039 (-)ENTREZGENE
CHM1_11173,530,115 - 173,530,224 (-)NCBI
T2T-CHM13v2.01171,495,517 - 171,495,626 (-)NCBI
Sequence:

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1
pathogenic
GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3 copy number gain See cases [RCV000051856] Chr1:164922655..180061589 [GRCh38]
Chr1:164891892..180030724 [GRCh37]
Chr1:163158516..178297347 [NCBI36]
Chr1:1q23.3-25.2
pathogenic
GRCh38/hg38 1q24.3(chr1:171953097-172164645)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053679]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053679]|See cases [RCV000053679] Chr1:171953097..172164645 [GRCh38]
Chr1:171922237..172133785 [GRCh37]
Chr1:170188860..170400408 [NCBI36]
Chr1:1q24.3
benign
GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1 copy number loss See cases [RCV000053917] Chr1:166762832..175327423 [GRCh38]
Chr1:166732069..175296559 [GRCh37]
Chr1:164998693..173563182 [NCBI36]
Chr1:1q24.1-25.1
pathogenic
GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1 copy number loss See cases [RCV000053918] Chr1:168314822..175299299 [GRCh38]
Chr1:168284060..175268435 [GRCh37]
Chr1:166550684..173535058 [NCBI36]
Chr1:1q24.2-25.1
pathogenic
GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1 copy number loss See cases [RCV000053914] Chr1:161740907..173965154 [GRCh38]
Chr1:161710697..173934292 [GRCh37]
Chr1:159977321..172200915 [NCBI36]
Chr1:1q23.3-25.1
pathogenic
GRCh37/hg19 1q24.3(chr1:172050936-172181677) copy number loss Fetal growth restriction [RCV001797985] Chr1:172050936..172181677 [GRCh37]
Chr1:1q24.3
likely pathogenic
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 copy number gain See cases [RCV000134876] Chr1:171039975..186875957 [GRCh38]
Chr1:171009116..186845089 [GRCh37]
Chr1:169275740..185111712 [NCBI36]
Chr1:1q24.3-31.1
pathogenic
GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1 copy number loss See cases [RCV000137128] Chr1:169218236..178075834 [GRCh38]
Chr1:169187474..178044969 [GRCh37]
Chr1:167454098..176311592 [NCBI36]
Chr1:1q24.2-25.2
pathogenic
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 copy number loss See cases [RCV000142369] Chr1:170929720..191065409 [GRCh38]
Chr1:170898861..191034539 [GRCh37]
Chr1:169165485..189301162 [NCBI36]
Chr1:1q24.3-31.2
pathogenic
GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1 copy number loss See cases [RCV000143292] Chr1:163382523..175877022 [GRCh38]
Chr1:163352313..175846158 [GRCh37]
Chr1:161618937..174112781 [NCBI36]
Chr1:1q23.3-25.1
pathogenic
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 copy number loss See cases [RCV000143688] Chr1:170036068..187555148 [GRCh38]
Chr1:170005209..187524280 [GRCh37]
Chr1:168271833..185790903 [NCBI36]
Chr1:1q24.2-31.1
pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) copy number loss not provided [RCV000767779] Chr1:160369890..175796325 [GRCh37]
Chr1:1q23.2-25.1
pathogenic
GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623) copy number gain not provided [RCV000767621] Chr1:169423492..180367623 [GRCh37]
Chr1:1q24.2-25.3
pathogenic
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3
pathogenic
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)x1 copy number loss See cases [RCV000447593] Chr1:169873155..181823980 [GRCh37]
Chr1:1q24.2-25.3
pathogenic
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 copy number loss See cases [RCV000448686] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2
pathogenic
Single allele deletion 1q24q25 microdeletion syndrome [RCV000754969] Chr1:169095250..175778910 [GRCh37]
Chr1:1q24.2-25.1
pathogenic
GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1 copy number loss not provided [RCV001005149] Chr1:167430471..174635618 [GRCh37]
Chr1:1q24.2-25.1
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NC_000001.10:g.(?_171605065)_(173962123_?)del deletion Autoimmune lymphoproliferative syndrome type 1 [RCV001947302]|not provided [RCV001947303] Chr1:171605065..173962123 [GRCh37]
Chr1:1q24.3-25.1
pathogenic|uncertain significance
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980) copy number loss not specified [RCV002053713] Chr1:169873155..181823980 [GRCh37]
Chr1:1q24.2-25.3
pathogenic
GRCh37/hg19 1q24.3-25.1(chr1:171881608-175899893) copy number loss not specified [RCV002053725] Chr1:171881608..175899893 [GRCh37]
Chr1:1q24.3-25.1
pathogenic
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758) copy number loss not specified [RCV002053736] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3
pathogenic
NC_000001.10:g.(?_171605065)_(173962123_?)dup duplication Autoimmune lymphoproliferative syndrome type 1 [RCV001939952] Chr1:171605065..173962123 [GRCh37]
Chr1:1q24.3-25.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31591 AgrOrtholog
COSMIC MIR214 COSMIC
Ensembl Genes ENSG00000283844 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000385214 ENTREZGENE
GTEx ENSG00000283844 GTEx
HGNC ID HGNC:31591 ENTREZGENE
Human Proteome Map MIR214 Human Proteome Map
miRBase MI0000290 ENTREZGENE
NCBI Gene 406996 ENTREZGENE
OMIM 610721 OMIM
PharmGKB PA164722596 PharmGKB
RNAcentral URS0000160683 RNACentral
  URS00002C11C3 RNACentral
  URS00004DAA89 RNACentral