MIR19B1 (microRNA 19b-1) - Rat Genome Database

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Gene: MIR19B1 (microRNA 19b-1) Homo sapiens
Analyze
Symbol: MIR19B1
Name: microRNA 19b-1
RGD ID: 1346116
HGNC Page HGNC:31575
Description: Enables mRNA base-pairing post-transcriptional repressor activity. Involved in several processes, including cholesterol homeostasis; negative regulation of apolipoprotein A-I-mediated signaling pathway; and regulation of protein metabolic process. Located in blood microparticle. Part of extracellular vesicle. Biomarker of Parkinson's disease.
Type: ncrna
RefSeq Status: PROVISIONAL
Previously known as: C13orf25; miR-19b-1; MIR17HG; MIR19B; MIRH1; MIRHG1; MIRN19B1; miRNA19B1
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
GRCh381391,351,192 - 91,351,278 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1391,351,192 - 91,351,278 (+)EnsemblGRCh38hg38GRCh38
GRCh371392,003,446 - 92,003,532 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361390,801,446 - 90,801,532 (+)NCBINCBI36Build 36hg18NCBI36
Celera1372,850,417 - 72,850,503 (+)NCBICelera
Cytogenetic Map13q31.3NCBI
HuRef1372,599,281 - 72,599,367 (+)NCBIHuRef
CHM1_11391,972,086 - 91,972,172 (+)NCBICHM1_1
T2T-CHM13v2.01390,553,768 - 90,553,854 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process
B cell apoptotic process  (ISO)
cellular response to bacterial lipopeptide  (IDA)
cellular response to leukemia inhibitory factor  (ISO)
cellular senescence  (ISO)
cholesterol homeostasis  (IDA)
in utero embryonic development  (ISO)
long-term synaptic potentiation  (ISO)
lung development  (ISO)
miRNA-mediated gene silencing  (IDA,IEA)
miRNA-mediated gene silencing by inhibition of translation  (IDA)
negative regulation of apolipoprotein A-I-mediated signaling pathway  (IDA)
negative regulation of apoptotic process  (ISO)
negative regulation of B cell apoptotic process  (ISO)
negative regulation of cardiac muscle cell apoptotic process  (ISS)
negative regulation of cell migration involved in sprouting angiogenesis  (IDA)
negative regulation of cholesterol efflux  (IDA,IMP)
negative regulation of coagulation  (IDA)
negative regulation of G2/M transition of mitotic cell cycle  (IDA)
negative regulation of gene expression  (IDA)
negative regulation of inflammatory response to antigenic stimulus  (IDA)
negative regulation of interleukin-6 production  (IDA)
negative regulation of matrix metallopeptidase secretion  (IDA)
negative regulation of reverse cholesterol transport  (ISS)
negative regulation of serine-type endopeptidase activity  (IDA)
positive regulation of apoptotic process involved in development  (ISS)
positive regulation of cardiac muscle cell proliferation  (ISS)
positive regulation of cell growth involved in cardiac muscle cell development  (IGI,ISS)
positive regulation of cell population proliferation  (ISS)
positive regulation of DNA-binding transcription factor activity  (ISS)
positive regulation of tyrosine phosphorylation of STAT protein  (IMP)
pre-B cell differentiation  (ISO)
regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment  (ISS)
regulation of plasma lipoprotein particle levels  (ISS)
response to bacterium  (ISO)
spinal cord motor neuron differentiation  (ISO)
ventricular septum morphogenesis  (ISO)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Convergence of miRNA expression profiling, alpha-synuclein interacton and GWAS in Parkinson's disease. Martins M, etal., PLoS One. 2011;6(10):e25443. doi: 10.1371/journal.pone.0025443. Epub 2011 Oct 7.
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. MicroRNA-31 activates the RAS pathway and functions as an oncogenic MicroRNA in human colorectal cancer by repressing RAS p21 GTPase activating protein 1 (RASA1). Sun D, etal., J Biol Chem. 2013 Mar 29;288(13):9508-18. doi: 10.1074/jbc.M112.367763. Epub 2013 Jan 15.
Additional References at PubMed
PMID:11679670   PMID:11914277   PMID:12554860   PMID:14573789   PMID:15126345   PMID:15183728   PMID:15325244   PMID:15978578   PMID:16381832   PMID:17604727   PMID:17616659   PMID:18632605  
PMID:18728182   PMID:21037258   PMID:21176349   PMID:21796614   PMID:22105995   PMID:22197821   PMID:23271053   PMID:23433743   PMID:23681423   PMID:24117217   PMID:24531034   PMID:24675462  
PMID:24824927   PMID:24998411   PMID:25084135   PMID:25308476   PMID:25643913   PMID:25675938   PMID:25765596   PMID:25997679   PMID:26117405   PMID:26453548   PMID:26531692   PMID:26646931  
PMID:26683099   PMID:26939053   PMID:27138803   PMID:27213338   PMID:27305142   PMID:27508324   PMID:27572553   PMID:27602768   PMID:27768748   PMID:27919278   PMID:28083843   PMID:28091585  
PMID:28091918   PMID:28213977   PMID:28223160   PMID:28364280   PMID:28431233   PMID:28626163   PMID:28731027   PMID:28798470   PMID:28938919   PMID:28986250   PMID:28987820   PMID:29207010  
PMID:29212574   PMID:29363717   PMID:29425833   PMID:29474434   PMID:29550144   PMID:29568890   PMID:29575198   PMID:29889802   PMID:30178853   PMID:30231694   PMID:30343695   PMID:30623425  
PMID:30687333   PMID:30690026   PMID:30883341   PMID:30975145   PMID:30996254   PMID:31227976   PMID:31569141   PMID:31583718   PMID:31591389   PMID:31614022   PMID:31876684   PMID:31918667  
PMID:32377721   PMID:32381457   PMID:32519748   PMID:32663314   PMID:32705161   PMID:32949564   PMID:32950706   PMID:32978505   PMID:33022863   PMID:33632094   PMID:33660414   PMID:33722655  
PMID:33745222   PMID:33862112   PMID:33964297   PMID:34282711   PMID:34461493   PMID:34586722   PMID:34635014   PMID:34642330   PMID:34705586   PMID:35352515  


Genomics

Comparative Map Data
MIR19B1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381391,351,192 - 91,351,278 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1391,351,192 - 91,351,278 (+)EnsemblGRCh38hg38GRCh38
GRCh371392,003,446 - 92,003,532 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361390,801,446 - 90,801,532 (+)NCBINCBI36Build 36hg18NCBI36
Celera1372,850,417 - 72,850,503 (+)NCBICelera
Cytogenetic Map13q31.3NCBI
HuRef1372,599,281 - 72,599,367 (+)NCBIHuRef
CHM1_11391,972,086 - 91,972,172 (+)NCBICHM1_1
T2T-CHM13v2.01390,553,768 - 90,553,854 (+)NCBIT2T-CHM13v2.0
Mir19b-1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3914115,281,737 - 115,281,823 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl14115,281,737 - 115,281,823 (+)EnsemblGRCm39 Ensembl
GRCm3814115,044,305 - 115,044,391 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl14115,044,305 - 115,044,391 (+)EnsemblGRCm38mm10GRCm38
MGSCv3714115,443,527 - 115,443,613 (+)NCBIGRCm37MGSCv37mm9NCBIm37
Celera14113,634,873 - 113,634,959 (+)NCBICelera
Cytogenetic Map14E4NCBI
Mir19b1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21592,181,214 - 92,181,300 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1592,181,214 - 92,181,300 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1596,088,003 - 96,088,089 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01597,220,869 - 97,220,955 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01594,128,275 - 94,128,361 (+)NCBIRnor_WKY
Rnor_6.015100,180,464 - 100,180,550 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl15100,180,464 - 100,180,550 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.015103,641,487 - 103,641,573 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1591,045,894 - 91,045,980 (+)NCBICelera
Cytogenetic Map15q23NCBI
MIR19B-1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12242,478,598 - 42,478,656 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2242,334,286 - 42,334,344 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02242,879,847 - 42,879,905 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12242,562,320 - 42,562,378 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02242,616,699 - 42,616,757 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02242,617,762 - 42,617,820 (+)NCBIUU_Cfam_GSD_1.0
MIR19B-1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1160,735,230 - 60,735,328 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11160,735,238 - 60,735,317 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21166,610,642 - 66,610,721 (+)NCBISscrofa10.2Sscrofa10.2susScr3

miRNA Target Status

Confirmed Targets
Gene TargetMature miRNAMethod NameResult TypeData TypeSupport TypePMID
ITGB8hsa-miR-19b-1-5pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI22197821
CCND1hsa-miR-19b-1-5pMirtarbaseexternal_infoWestern blotFunctional MTI22197821
FGFR2hsa-miR-19b-1-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI22197821
DNAH8hsa-miR-19b-1-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
NR3C2hsa-miR-19b-3pMirtarbaseexternal_infoSequencingFunctional MTI (Weak)20371350
BACE1hsa-miR-19b-3pMirtarbaseexternal_infoLuciferase reporter assay//Reporter assay;OtherNon-Functional MTI18434550
PTENhsa-miR-19b-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI20008935
ATXN1hsa-miR-19b-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI18758459
HIPK3hsa-miR-19b-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI17575136
ARID4Bhsa-miR-19b-3pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI17575136
ESR1hsa-miR-19b-3pMirtarbaseexternal_infoWestern blot//qRT-PCR//Luciferase reporter assayFunctional MTI19706389
NCOA3hsa-miR-19b-3pMirtarbaseexternal_infoWestern blotNon-Functional MTI19706389
KAT2Bhsa-miR-19b-3pMirtarbaseexternal_infoWestern blot//Luciferase reporter assayNon-Functional MTI18728182
SOCS1hsa-miR-19b-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI18728182
BCL2L11hsa-miR-19b-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI18728182
TGFBR2hsa-miR-19b-3pMirtarbaseexternal_infoMicroarray//qRT-PCRFunctional MTI (Weak)19435428
BMPR2hsa-miR-19b-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotNon-Functional MTI19390056
CUL5hsa-miR-19b-3pMirtarbaseexternal_infoqRT-PCR//Western blotFunctional MTI22561557
TLR2hsa-miR-19b-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22105995
CYP19A1hsa-miR-19b-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23438603
MYCNhsa-miR-19b-3pMirtarbaseexternal_infoReporter assayFunctional MTI21654684
DDX6hsa-miR-19b-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
BACE1hsa-miR-19b-3pTarbaseexternal_infoReporter GeneNEGATIVE
MYCNhsa-miR-19b-3pTarbaseexternal_infoReporter GenePOSITIVE
DERL1hsa-miR-19b-3pTarbaseexternal_infoSequencingPOSITIVE
CUL5hsa-miR-19b-3pOncomiRDBexternal_infoNANA22561557
DKK3hsa-miR-19b-3pOncomiRDBexternal_infoNANA21796614
SOCS1hsa-miR-19b-3pOncomiRDBexternal_infoNANA18728182
MYCNhsa-miR-19b-3pOncomiRDBexternal_infoNANA21654684

Predicted Targets
Summary Value
Count of predictions:20595
Count of gene targets:7626
Count of transcripts:14341
Interacting mature miRNAs:hsa-miR-19b-1-5p
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


Sequence


Reference Sequences
RefSeq Acc Id: ENST00000384829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1391,351,192 - 91,351,278 (+)Ensembl
RefSeq Acc Id: NR_029490
RefSeq Status: PROVISIONAL
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381391,351,192 - 91,351,278 (+)NCBI
GRCh371392,003,446 - 92,003,532 (+)RGD
Celera1372,850,417 - 72,850,503 (+)RGD
HuRef1372,599,281 - 72,599,367 (+)ENTREZGENE
CHM1_11391,972,086 - 91,972,172 (+)NCBI
T2T-CHM13v2.01390,553,768 - 90,553,854 (+)NCBI
Sequence:

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 copy number loss See cases [RCV000050891] Chr13:44967523..92738168 [GRCh38]
Chr13:45541658..93390421 [GRCh37]
Chr13:44439658..92188422 [NCBI36]
Chr13:13q14.12-31.3
pathogenic
GRCh38/hg38 13q22.3-32.1(chr13:78349126-94701844)x1 copy number loss See cases [RCV000051379] Chr13:78349126..94701844 [GRCh38]
Chr13:78923261..95354098 [GRCh37]
Chr13:77821262..94152099 [NCBI36]
Chr13:13q22.3-32.1
pathogenic
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] Chr13:82581008..114327173 [GRCh38]
Chr13:83155143..115085141 [GRCh37]
Chr13:82053144..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.1-32.1(chr13:83947821-95128969)x1 copy number loss See cases [RCV000051414] Chr13:83947821..95128969 [GRCh38]
Chr13:84521956..95781223 [GRCh37]
Chr13:83419957..94579224 [NCBI36]
Chr13:13q31.1-32.1
pathogenic
GRCh38/hg38 13q31.2-32.1(chr13:88260962-97285754)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051415]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051415]|See cases [RCV000051415] Chr13:88260962..97285754 [GRCh38]
Chr13:88913217..97938008 [GRCh37]
Chr13:87711218..96736009 [NCBI36]
Chr13:13q31.2-32.1
pathogenic
GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1 copy number loss See cases [RCV000051416] Chr13:88323009..98888644 [GRCh38]
Chr13:88975264..99540898 [GRCh37]
Chr13:87773265..98338899 [NCBI36]
Chr13:13q31.2-32.3
pathogenic
GRCh38/hg38 13q31.3-32.1(chr13:89549510-96657834)x1 copy number loss See cases [RCV000051417] Chr13:89549510..96657834 [GRCh38]
Chr13:90201764..97310088 [GRCh37]
Chr13:88999765..96108089 [NCBI36]
Chr13:13q31.3-32.1
pathogenic
GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3 copy number gain See cases [RCV000051179] Chr13:82032938..106082542 [GRCh38]
Chr13:82607073..106734891 [GRCh37]
Chr13:81505074..105532892 [NCBI36]
Chr13:13q31.1-33.2
pathogenic
GRCh38/hg38 13q31.3(chr13:90215412-91366486)x1 copy number loss See cases [RCV000051921] Chr13:90215412..91366486 [GRCh38]
Chr13:90867666..92018740 [GRCh37]
Chr13:89665667..90816741 [NCBI36]
Chr13:13q31.3
uncertain significance
GRCh38/hg38 13q31.3(chr13:90973752-93097331)x1 copy number loss See cases [RCV000051922] Chr13:90973752..93097331 [GRCh38]
Chr13:91626006..93749584 [GRCh37]
Chr13:90424007..92547585 [NCBI36]
Chr13:13q31.3
uncertain significance
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34
pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] Chr13:80628584..114327173 [GRCh38]
Chr13:81202719..115085141 [GRCh37]
Chr13:80100720..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q31.3(chr13:90644219-92557099)x1 copy number loss See cases [RCV000234861] Chr13:90644219..92557099 [GRCh37]
Chr13:13q31.3
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q22.3-31.3(chr13:77061780-92460406)x1 copy number loss See cases [RCV000136886] Chr13:77061780..92460406 [GRCh38]
Chr13:77635915..93112659 [GRCh37]
Chr13:76533916..91910660 [NCBI36]
Chr13:13q22.3-31.3
pathogenic
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 copy number gain See cases [RCV000137102] Chr13:88937651..114327173 [GRCh38]
Chr13:89589905..115085141 [GRCh37]
Chr13:88387906..114110750 [NCBI36]
Chr13:13q31.2-34
pathogenic
GRCh38/hg38 13q31.1-31.3(chr13:84005264-92784013)x1 copy number loss See cases [RCV000137272] Chr13:84005264..92784013 [GRCh38]
Chr13:84579399..93436266 [GRCh37]
Chr13:83477400..92234267 [NCBI36]
Chr13:13q31.1-31.3
likely pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 copy number gain See cases [RCV000138742] Chr13:78999318..114327106 [GRCh38]
Chr13:79573453..115085141 [GRCh37]
Chr13:78471454..114110683 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 copy number loss See cases [RCV000138340] Chr13:86788927..114340331 [GRCh38]
Chr13:87441182..115085141 [GRCh37]
Chr13:86239183..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q31.2-32.3(chr13:87944479-99866542)x1 copy number loss See cases [RCV000139047] Chr13:87944479..99866542 [GRCh38]
Chr13:88596734..100518796 [GRCh37]
Chr13:87394735..99316797 [NCBI36]
Chr13:13q31.2-32.3
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 copy number gain See cases [RCV000141248] Chr13:78964223..114340331 [GRCh38]
Chr13:79538358..115085141 [GRCh37]
Chr13:78436359..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.1-31.3(chr13:84052824-91838339)x3 copy number gain See cases [RCV000141994] Chr13:84052824..91838339 [GRCh38]
Chr13:84626959..92490593 [GRCh37]
Chr13:83524960..91288594 [NCBI36]
Chr13:13q31.1-31.3
uncertain significance
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 copy number gain See cases [RCV000141804] Chr13:83288131..114342258 [GRCh38]
Chr13:83862266..115107733 [GRCh37]
Chr13:82760267..114125835 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q31.3(chr13:91283077-91394459)x1 copy number loss See cases [RCV000143094] Chr13:91283077..91394459 [GRCh38]
Chr13:91935331..92046713 [GRCh37]
Chr13:90733332..90844714 [NCBI36]
Chr13:13q31.3
pathogenic
GRCh38/hg38 13q31.3(chr13:91282882-91394459)x1 copy number loss See cases [RCV000143162] Chr13:91282882..91394459 [GRCh38]
Chr13:91935136..92046713 [GRCh37]
Chr13:90733137..90844714 [NCBI36]
Chr13:13q31.3
pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1 copy number loss See cases [RCV000240161] Chr13:89796110..115083342 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q31.3(chr13:91209639-94704856)x3 copy number gain See cases [RCV000240035] Chr13:91209639..94704856 [GRCh37]
Chr13:13q31.3
uncertain significance
GRCh37/hg19 13q22.1-31.3(chr13:74459395-93481294)x1 copy number loss See cases [RCV000598789] Chr13:74459395..93481294 [GRCh37]
Chr13:13q22.1-31.3
pathogenic
GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1 copy number loss See cases [RCV000449272] Chr13:53551300..109850651 [GRCh37]
Chr13:13q14.3-33.3
pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q31.1-31.3(chr13:86963003-93390362)x3 copy number gain See cases [RCV000446248] Chr13:86963003..93390362 [GRCh37]
Chr13:13q31.1-31.3
pathogenic
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3 copy number gain See cases [RCV000447429] Chr13:82221361..115092569 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.1-33.1(chr13:81851091-102864674)x1 copy number loss See cases [RCV000448988] Chr13:81851091..102864674 [GRCh37]
Chr13:13q31.1-33.1
pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1 copy number loss See cases [RCV000448405] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3 copy number gain See cases [RCV000510566] Chr13:80058840..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1 copy number loss See cases [RCV000510890] Chr13:80572498..108719528 [GRCh37]
Chr13:13q31.1-33.3
pathogenic
GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3 copy number gain See cases [RCV000512605] Chr13:83435292..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3 copy number gain See cases [RCV000512571] Chr13:53932358..96586363 [GRCh37]
Chr13:13q14.3-32.1
pathogenic
GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3 copy number gain See cases [RCV000512242] Chr13:85176519..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
Single allele duplication not provided [RCV000678035] Chr13:91209639..94704856 [GRCh37]
Chr13:13q31.3
likely pathogenic
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3 copy number gain not provided [RCV000683571] Chr13:78590089..115107733 [GRCh37]
Chr13:13q22.3-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.1-31.3(chr13:85005334-92461147)x1 copy number loss not provided [RCV000738268] Chr13:85005334..92461147 [GRCh37]
Chr13:13q31.1-31.3
pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q21.1-31.3(chr13:57058434-94684615)x1 copy number loss not provided [RCV000750731] Chr13:57058434..94684615 [GRCh37]
Chr13:13q21.1-31.3
pathogenic
GRCh37/hg19 13q31.3(chr13:91460305-92069153)x3 copy number gain not provided [RCV001006582] Chr13:91460305..92069153 [GRCh37]
Chr13:13q31.3
likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34
pathogenic
NC_000013.10:g.(?_92002837)_(103343314_?)del deletion Holoprosencephaly 5 [RCV001388033] Chr13:92002837..103343314 [GRCh37]
Chr13:13q31.3-33.1
pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:85037147-115107733) copy number gain not specified [RCV002053073] Chr13:85037147..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733) copy number gain not specified [RCV002053063] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:79370012-115107733) copy number loss not specified [RCV002053072] Chr13:79370012..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q22.3-34(chr13:78514567-115107733) copy number gain not specified [RCV002053071] Chr13:78514567..115107733 [GRCh37]
Chr13:13q22.3-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733) copy number loss not specified [RCV002053074] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31575 AgrOrtholog
COSMIC MIR19B1 COSMIC
Ensembl Genes ENSG00000284375 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000384829 ENTREZGENE
GTEx ENSG00000284375 GTEx
HGNC ID HGNC:31575 ENTREZGENE
Human Proteome Map MIR19B1 Human Proteome Map
miRBase MI0000074 ENTREZGENE
NCBI Gene 406980 ENTREZGENE
OMIM 609419 OMIM
PharmGKB PA164722573 PharmGKB
RNAcentral URS000013D17D RNACentral
  URS00001B9622 RNACentral
  URS00003BACA4 RNACentral