MIR125B2 (microRNA 125b-2) - Rat Genome Database

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Gene: MIR125B2 (microRNA 125b-2) Homo sapiens
Analyze
Symbol: MIR125B2
Name: microRNA 125b-2
RGD ID: 1342678
HGNC Page HGNC:31507
Description: Enables mRNA base-pairing post-transcriptional repressor activity. Involved in several processes, including negative regulation of gene expression; negative regulation of signal transduction; and positive regulation of cell differentiation. Located in extracellular space. Part of extracellular exosome.
Type: ncrna
RefSeq Status: PROVISIONAL
Previously known as: mir-125b-2; MIRN125B2
RGD Orthologs
Mouse
Rat
Dog
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
GRCh382116,590,237 - 16,590,325 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2116,590,237 - 16,590,325 (+)EnsemblGRCh38hg38GRCh38
GRCh372117,962,557 - 17,962,645 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362116,884,427 - 16,884,515 (+)NCBINCBI36hg18NCBI36
Celera213,132,744 - 3,132,832 (+)NCBI
Cytogenetic Map21q21.1NCBI
HuRef213,343,306 - 3,343,394 (+)NCBIHuRef
CHM1_12117,523,172 - 17,523,260 (+)NCBICHM1_1
T2T-CHM13v2.02114,945,711 - 14,945,799 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12007417   PMID:15722555   PMID:15800047   PMID:15978578   PMID:16381832   PMID:17604727   PMID:17616659   PMID:18548003   PMID:19048628   PMID:19437538   PMID:19471102   PMID:20158877  
PMID:20347935   PMID:20460378   PMID:20658525   PMID:21037258   PMID:21412257   PMID:21562054   PMID:21879257   PMID:21969554   PMID:22307404   PMID:22357933   PMID:22391569   PMID:22460089  
PMID:22898264   PMID:22991213   PMID:23099851   PMID:23305626   PMID:23406982   PMID:23503652   PMID:23527180   PMID:23718732   PMID:23759586   PMID:23915977   PMID:23928699   PMID:24046143  
PMID:24098452   PMID:24169356   PMID:24517182   PMID:24604579   PMID:24746948   PMID:24865963   PMID:25155155   PMID:25240408   PMID:25312242   PMID:25416859   PMID:25468475   PMID:25571789  
PMID:25589070   PMID:25605244   PMID:25633049   PMID:25668010   PMID:25833836   PMID:26017674   PMID:26038573   PMID:26335100   PMID:26435691   PMID:26455324   PMID:26458815   PMID:26504803  
PMID:26646931   PMID:27112664   PMID:27363278   PMID:27383536   PMID:27412941   PMID:27576314   PMID:27592685   PMID:27637078   PMID:27698350   PMID:28090150   PMID:28176874   PMID:28256505  
PMID:28260078   PMID:28267418   PMID:28378642   PMID:28389358   PMID:28412211   PMID:28522697   PMID:28724745   PMID:28798470   PMID:28926115   PMID:29214735   PMID:29700305   PMID:29749374  
PMID:30131528   PMID:30177391   PMID:30237497   PMID:30253192   PMID:30536969   PMID:30878364   PMID:31053727   PMID:31059052   PMID:31518563   PMID:31548167   PMID:31554373   PMID:31557499  
PMID:31575334   PMID:31696556   PMID:31713992   PMID:31899048   PMID:31967348   PMID:32291953   PMID:32470446   PMID:32473637   PMID:32609900   PMID:32614608   PMID:32705257   PMID:32859639  
PMID:33038923   PMID:33121314   PMID:33179091   PMID:33293585   PMID:33389830   PMID:33390783   PMID:33400245   PMID:33541259   PMID:33660877   PMID:33666372   PMID:33887878   PMID:33949293  
PMID:34186058   PMID:34238196   PMID:34374235   PMID:34524260   PMID:34664737   PMID:35028929   PMID:35055127   PMID:35527652  


Genomics

Comparative Map Data
MIR125B2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382116,590,237 - 16,590,325 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2116,590,237 - 16,590,325 (+)EnsemblGRCh38hg38GRCh38
GRCh372117,962,557 - 17,962,645 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362116,884,427 - 16,884,515 (+)NCBINCBI36hg18NCBI36
Celera213,132,744 - 3,132,832 (+)NCBI
Cytogenetic Map21q21.1NCBI
HuRef213,343,306 - 3,343,394 (+)NCBIHuRef
CHM1_12117,523,172 - 17,523,260 (+)NCBICHM1_1
T2T-CHM13v2.02114,945,711 - 14,945,799 (+)NCBI
Mir125b-2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391677,443,161 - 77,443,231 (+)NCBIGRCm39mm39
GRCm39 Ensembl1677,443,161 - 77,443,231 (+)Ensembl
GRCm381677,646,273 - 77,646,343 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1677,646,273 - 77,646,343 (+)EnsemblGRCm38mm10GRCm38
MGSCv371677,646,518 - 77,646,588 (+)NCBIGRCm37mm9NCBIm37
Celera1677,873,203 - 77,873,273 (+)NCBICelera
Cytogenetic Map16C3.1NCBI
Mir125b2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21116,245,620 - 16,245,707 (+)NCBImRatBN7.2
Rnor_6.01116,097,346 - 16,097,433 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01119,752,280 - 19,752,367 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1116,251,853 - 16,251,940 (+)NCBICelera
Cytogenetic Map11q11NCBI
MIR125B-2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13113,304,980 - 13,305,040 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3113,304,964 - 13,305,052 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3113,318,783 - 13,318,843 (+)NCBI
ROS_Cfam_1.03113,334,446 - 13,334,506 (+)NCBI
ROS_Cfam_1.0 Ensembl3113,334,430 - 13,334,518 (+)Ensembl
UMICH_Zoey_3.13113,303,634 - 13,303,694 (+)NCBI
UNSW_CanFamBas_1.03113,342,383 - 13,342,443 (+)NCBI
UU_Cfam_GSD_1.03113,742,924 - 13,742,984 (+)NCBI

miRNA Target Status

Confirmed Targets
Gene TargetMature miRNAMethod NameResult TypeData TypeSupport TypePMID
DGAT1hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19635812
CEBPGhsa-miR-125b-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
BAK1hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI18056640
ERBB3hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//Northern blot//qRT-PCR/Functional MTI17110380
ERBB2hsa-miR-125b-5pMirtarbaseexternal_infoWestern blotFunctional MTI19825990
ERBB2hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//Microarray//Western bloFunctional MTI20864407
PIGFhsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI21703189
KLF13hsa-miR-125b-5pMirtarbaseexternal_infoMicroarray//qRT-PCR//Western blotFunctional MTI19396866
BMFhsa-miR-125b-5pMirtarbaseexternal_infoimmunoblot//Luciferase reporter assay//qRT-PCRFunctional MTI19471102
BCL2hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI22293115
BCL3hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI20658525
NTRK3hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blot//Reporter Functional MTI17483472
LIN28Ahsa-miR-125b-5pMirtarbaseexternal_infoReporter assayFunctional MTI18230348
LIN28Ahsa-miR-125b-5pMirtarbaseexternal_infoB-globin reporter assay//Luciferase reporter assayFunctional MTI16495412
LIN28Ahsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI16227573
LIN28Ahsa-miR-125b-5pMirtarbaseexternal_infoImmunoblot//Luciferase reporter assay//qRT-PCRFunctional MTI22366319
CBFBhsa-miR-125b-5pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)17891175
CBFBhsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22689670
AKT1hsa-miR-125b-5pMirtarbaseexternal_infoqRT-PCR//Western blotFunctional MTI18649363
CYP24A1hsa-miR-125b-5pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blot//Functional MTI19570947
RAF1hsa-miR-125b-5pMirtarbaseexternal_infoWestern blot//Western blot;OtherFunctional MTI19825990
PRDM1hsa-miR-125b-5pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assayFunctional MTI20497960
GRIN2Ahsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCRFunctional MTI20159450
CDKN2Ahsa-miR-125b-5pMirtarbaseexternal_infoWestern blotFunctional MTI20347935
IGF2hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//Northern blot//Western Functional MTI21200031
KRT7hsa-miR-125b-5pMirtarbaseexternal_infoImmunoblot//qRT-PCRNon-Functional MTI (Weak)19378336
E2F3hsa-miR-125b-5pMirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//NFunctional MTI20549700
E2F3hsa-miR-125b-5pMirtarbaseexternal_infoImmunohistochemistry//qRT-PCR//Western blotFunctional MTI22523546
LIN28Bhsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI20827722
BAK1hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI20886540
FGFR2hsa-miR-125b-5pMirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//qFunctional MTI21412257
ARID3Bhsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22307404
HK2hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCRFunctional MTI22593586
E2F2hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22999819
MMP13hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22782903
MAPK14hsa-miR-125b-5pMirtarbaseexternal_infoChIP-seq//EMSA//Immunoblot//Luciferase reporter asFunctional MTI22854965
MUC1hsa-miR-125b-5pMirtarbaseexternal_infoReporter assay;Western blotFunctional MTI20729973
NEShsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23016664
MUC1hsa-miR-125b-5pTarbaseexternal_infoReporter GenePOSITIVE
MUC1hsa-miR-125b-5pTarbaseexternal_infoWesternblitPOSITIVE
IL6hsa-miR-125b-5pTarbaseexternal_infoOtherNEGATIVE
TP53hsa-miR-125b-5pTarbaseexternal_infoqPCRPOSITIVE
ERBB3hsa-miR-125b-5pOncomiRDBexternal_infoNANA23437196
MMP13hsa-miR-125b-5pOncomiRDBexternal_infoNANA23425975
TACSTD2hsa-miR-125b-5pOncomiRDBexternal_infoNANA23416980
PIK3CDhsa-miR-125b-5pOncomiRDBexternal_infoNANA23160634
JUNhsa-miR-125b-5pOncomiRDBexternal_infoNANA22797068
E2F2hsa-miR-125b-5pOncomiRDBexternal_infoNANA22999819
MCL1hsa-miR-125b-5pOncomiRDBexternal_infoNANA22942733
MCL1hsa-miR-125b-5pOncomiRDBexternal_infoNANA22824797
MMP13hsa-miR-125b-5pOncomiRDBexternal_infoNANA22782903
STARD13hsa-miR-125b-5pOncomiRDBexternal_infoNANA22693547
TNFAIP3hsa-miR-125b-5pOncomiRDBexternal_infoNANA22550173
SIRT7hsa-miR-125b-5pOncomiRDBexternal_infoNANA23079745
ARID3Ahsa-miR-125b-5pOncomiRDBexternal_infoNANA22469780
ERBB2hsa-miR-125b-5pOncomiRDBexternal_infoNANA22460089
ARID3Bhsa-miR-125b-5pOncomiRDBexternal_infoNANA22307404
BCL2hsa-miR-125b-5pOncomiRDBexternal_infoNANA22293115
BCL2hsa-miR-125b-5pOncomiRDBexternal_infoNANA22139839
TP53INP1hsa-miR-125b-5pOncomiRDBexternal_infoNANA21970405
BAK1hsa-miR-125b-5pOncomiRDBexternal_infoNANA21880154
BAK1hsa-miR-125b-5pOncomiRDBexternal_infoNANA21823019
PGFhsa-miR-125b-5pOncomiRDBexternal_infoNANA21703189
ETS1hsa-miR-125b-5pOncomiRDBexternal_infoNANA21444677
MUC1hsa-miR-125b-5pOncomiRDBexternal_infoNANA21308711
TP53hsa-miR-125b-5pOncomiRDBexternal_infoNANA20886540
STAT3hsa-miR-125b-5pOncomiRDBexternal_infoNANA22093834
LIN28Bhsa-miR-125b-5pOncomiRDBexternal_infoNANA20827722
MUC1hsa-miR-125b-5pOncomiRDBexternal_infoNANA20729973
BCL3hsa-miR-125b-5pOncomiRDBexternal_infoNANA20658525
E2F3hsa-miR-125b-5pOncomiRDBexternal_infoNANA20549700
BAK1hsa-miR-125b-5pOncomiRDBexternal_infoNANA20460378
CYP24A1hsa-miR-125b-5pOncomiRDBexternal_infoNANA19570947
ERBB2hsa-miR-125b-5pOncomiRDBexternal_infoNANA17110380
BMFhsa-miR-125b-5pOncomiRDBexternal_infoNANA19471102
VDRhsa-miR-125b-5pOncomiRDBexternal_infoNANA19437538
NTRK3hsa-miR-125b-5pOncomiRDBexternal_infoNANA17483472
RPS6KA1hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//ELISA//GFP reporter assFunctional MTI21643012
BMPR1Bhsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19738052
EIF4EBP1hsa-miR-125b-5pMirtarbaseexternal_infoMicroarray//qRT-PCRFunctional MTI (Weak)17891175
HMGA2hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI17563749
GLI1hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI18756266
NKIRAS2hsa-miR-125b-5pMirtarbaseexternal_infoELISA//qRT-PCR//Luciferase reporter assay//WesternFunctional MTI20351193
ETS1hsa-miR-125b-5pMirtarbaseexternal_infoImmunoblot//Luciferase reporter assayFunctional MTI21444677
SMOhsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI20216554
SMOhsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI18756266
TP53hsa-miR-125b-5pMirtarbaseexternal_infoIn situ hybridization//Luciferase reporter assay//Functional MTI19293287
TP53hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23497288
LIFhsa-miR-125b-5pMirtarbaseexternal_infoELISANon-Functional MTI (Weak)19011087
VDRhsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI19437538
LIN28AP1hsa-miR-125b-5pTarbaseexternal_infoOtherPOSITIVE
JPT2hsa-miR-125b-2-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
TNFAIP3hsa-miR-125b-5pMirtarbaseexternal_infoqRT-PCR//Western blotFunctional MTI22550173

Predicted Targets
Summary Value
Count of predictions:28991
Count of gene targets:11570
Count of transcripts:23104
Interacting mature miRNAs:hsa-miR-125b-2-3p, hsa-miR-125b-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.


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 adipose tissue appendage entire extraembryonic component
High
Medium 1 2 1 1 1 1 1 14 3
Low 21 5 85 50 62 50 36 34 129 85 116 105 1 2 12
Below cutoff 18 6 9 1 10 1 25 12 77 21 18 14 3 6 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000385128
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2116,590,237 - 16,590,325 (+)Ensembl
RefSeq Acc Id: NR_029694
RefSeq Status: PROVISIONAL
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382116,590,237 - 16,590,325 (+)NCBI
GRCh372117,962,557 - 17,962,645 (+)RGD
Celera213,132,744 - 3,132,832 (+)RGD
HuRef213,343,306 - 3,343,394 (+)RGD
CHM1_12117,523,172 - 17,523,260 (+)NCBI
T2T-CHM13v2.02114,945,711 - 14,945,799 (+)NCBI
Sequence:

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1 copy number loss See cases [RCV000052798] Chr21:13194345..29257208 [GRCh38]
Chr21:14566666..30629529 [GRCh37]
Chr21:13488537..29551400 [NCBI36]
Chr21:21q11.2-21.3
pathogenic
GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1 copy number loss See cases [RCV000052799] Chr21:14000720..30903065 [GRCh38]
Chr21:15373041..32275384 [GRCh37]
Chr21:14294912..31197255 [NCBI36]
Chr21:21q11.2-22.11
pathogenic
GRCh38/hg38 21q11.2-21.1(chr21:14019847-18125051)x1 copy number loss See cases [RCV000052800] Chr21:14019847..18125051 [GRCh38]
Chr21:15392168..19497369 [GRCh37]
Chr21:14314039..18419240 [NCBI36]
Chr21:21q11.2-21.1
pathogenic
GRCh38/hg38 21q11.2-21.1(chr21:14127526-19238720)x1 copy number loss See cases [RCV000052801] Chr21:14127526..19238720 [GRCh38]
Chr21:15499847..20611037 [GRCh37]
Chr21:14421718..19532908 [NCBI36]
Chr21:21q11.2-21.1
pathogenic
GRCh38/hg38 21q11.2-21.1(chr21:14971617-17270231)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052802]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052802]|See cases [RCV000052802] Chr21:14971617..17270231 [GRCh38]
Chr21:16343938..18642550 [GRCh37]
Chr21:15265809..17564421 [NCBI36]
Chr21:21q11.2-21.1
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-21.1(chr21:13696993-21440046)x3 copy number gain See cases [RCV000053044] Chr21:13696993..21440046 [GRCh38]
Chr21:15069314..22812366 [GRCh37]
Chr21:13991185..21734237 [NCBI36]
Chr21:21q11.2-21.1
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-21.1(chr21:14127526-17193289)x3 copy number gain See cases [RCV000053066] Chr21:14127526..17193289 [GRCh38]
Chr21:15499847..18565607 [GRCh37]
Chr21:14421718..17487478 [NCBI36]
Chr21:21q11.2-21.1
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-21.1(chr21:13076061-19390260)x3 copy number gain See cases [RCV000053038] Chr21:13076061..19390260 [GRCh38]
Chr21:14448382..20762577 [GRCh37]
Chr21:13370253..19684448 [NCBI36]
Chr21:21q11.2-21.1
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q21.1-21.2(chr21:15341716-22826315)x1 copy number loss See cases [RCV000136931] Chr21:15341716..22826315 [GRCh38]
Chr21:16714035..24198636 [GRCh37]
Chr21:15635906..23120507 [NCBI36]
Chr21:21q21.1-21.2
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 copy number loss See cases [RCV000138095] Chr21:7749532..37653653 [GRCh38]
Chr21:15451032..39025955 [GRCh37]
Chr21:14372903..37947825 [NCBI36]
Chr21:21p11.2-q22.13
pathogenic
GRCh38/hg38 21q11.2-21.1(chr21:14112717-21297273)x1 copy number loss See cases [RCV000138781] Chr21:14112717..21297273 [GRCh38]
Chr21:15485038..22669593 [GRCh37]
Chr21:14406909..21591464 [NCBI36]
Chr21:21q11.2-21.1
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-21.3(chr21:13634137-27862841)x1 copy number loss See cases [RCV000143749] Chr21:13634137..27862841 [GRCh38]
Chr21:15006458..29235160 [GRCh37]
Chr21:13928329..28157031 [NCBI36]
Chr21:21q11.2-21.3
pathogenic
NC_000021.7:g.13636378_28138533dup duplication Alzheimer disease [RCV000148341] Chr21:14714507..29216662 [GRCh37]
Chr21:13636378..28138533 [NCBI36]
Chr21:21q11.2-21.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-21.1(chr21:13634136-18211199)x1 copy number loss See cases [RCV000141944] Chr21:13634136..18211199 [GRCh38]
Chr21:15006457..19583516 [GRCh37]
Chr21:13928328..18505387 [NCBI36]
Chr21:21q11.2-21.1
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh38/hg38 21q11.2-21.3(chr21:14000146-27785985) copy number loss Monosomy 21 [RCV000225561] Chr21:14000146..27785985 [GRCh38]
Chr21:21q11.2-21.3
pathogenic
GRCh38/hg38 21p11.2-q21.3(chr21:13048294-27532614) copy number loss Monosomy 21 [RCV000225452] Chr21:13048294..27532614 [GRCh38]
Chr21:21p11.2-q21.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 copy number gain See cases [RCV000446716] Chr21:15006457..43598570 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-21.1(chr21:15442582-20723130) copy number gain See cases [RCV000447733] Chr21:15442582..20723130 [GRCh37]
Chr21:21q11.2-21.1
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-21.3(chr21:15006457-29225300)x1 copy number loss See cases [RCV000510539] Chr21:15006457..29225300 [GRCh37]
Chr21:21q11.2-21.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.1(chr21:17049083-22765034)x3 copy number gain See cases [RCV000511144] Chr21:17049083..22765034 [GRCh37]
Chr21:21q21.1
uncertain significance
GRCh37/hg19 21q11.2-21.1(chr21:15006861-23651121)x3 copy number gain See cases [RCV000511012] Chr21:15006861..23651121 [GRCh37]
Chr21:21q11.2-21.1
uncertain significance
GRCh37/hg19 21q11.2-21.2(chr21:15006457-25292671)x1 copy number loss not provided [RCV000684167] Chr21:15006457..25292671 [GRCh37]
Chr21:21q11.2-21.2
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q21.1(chr21:17827789-17970892)x3 copy number gain not provided [RCV000741451] Chr21:17827789..17970892 [GRCh37]
Chr21:21q21.1
benign
GRCh37/hg19 21q21.1(chr21:17827789-18002073)x3 copy number gain not provided [RCV000741452] Chr21:17827789..18002073 [GRCh37]
Chr21:21q21.1
benign
GRCh37/hg19 21q21.1(chr21:17892700-17970765)x3 copy number gain not provided [RCV000741453] Chr21:17892700..17970765 [GRCh37]
Chr21:21q21.1
benign
GRCh37/hg19 21q21.1(chr21:17895092-17972998)x3 copy number gain not provided [RCV000741454] Chr21:17895092..17972998 [GRCh37]
Chr21:21q21.1
benign
GRCh37/hg19 21q21.1(chr21:17898157-17970892)x3 copy number gain not provided [RCV000741455] Chr21:17898157..17970892 [GRCh37]
Chr21:21q21.1
benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787411] Chr21:14374186..29305180 [GRCh37]
Chr21:21q11.2-21.3
likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-21.3(chr21:15006457-29325923)x1 copy number loss not provided [RCV001007109] Chr21:15006457..29325923 [GRCh37]
Chr21:21q11.2-21.3
pathogenic
GRCh37/hg19 21q21.1(chr21:17724268-22219850)x3 copy number gain not provided [RCV001007110] Chr21:17724268..22219850 [GRCh37]
Chr21:21q21.1
uncertain significance
GRCh37/hg19 21q11.2-21.2(chr21:15006457-24522577)x1 copy number loss not provided [RCV001007108] Chr21:15006457..24522577 [GRCh37]
Chr21:21q11.2-21.2
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-21.2(chr21:15006457-26760450) copy number gain not specified [RCV002052720] Chr21:15006457..26760450 [GRCh37]
Chr21:21q11.2-21.2
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-21.3(chr21:15006457-27430623) copy number gain not specified [RCV002052721] Chr21:15006457..27430623 [GRCh37]
Chr21:21q11.2-21.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-21.3(chr21:15006457-28820583) copy number gain not specified [RCV002052722] Chr21:15006457..28820583 [GRCh37]
Chr21:21q11.2-21.3
pathogenic
Single allele deletion not provided [RCV002266744] Chr21:16244543..20363082 [GRCh38]
Chr21:21q21.1
uncertain significance
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.1-q21.2(chr21:10944001-25730963) copy number gain not provided [RCV000767670] Chr21:10944001..25730963 [GRCh37]
Chr21:21p11.1-q21.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31507 AgrOrtholog
COSMIC MIR125B2 COSMIC
Ensembl Genes ENSG00000207863 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000385128 ENTREZGENE
GTEx ENSG00000207863 GTEx
HGNC ID HGNC:31507 ENTREZGENE
Human Proteome Map MIR125B2 Human Proteome Map
miRBase MI0000470 ENTREZGENE
NCBI Gene 406912 ENTREZGENE
OMIM 610105 OMIM
PharmGKB PA164722403 PharmGKB
RNAcentral URS00001925C1 RNACentral
  URS0000209905 RNACentral
  URS000058997A RNACentral