MIR130B (microRNA 130b) - Rat Genome Database

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Gene: MIR130B (microRNA 130b) Homo sapiens
Analyze
Symbol: MIR130B
Name: microRNA 130b
RGD ID: 1344051
HGNC Page HGNC
Description: Predicted to act upstream of or within cellular response to leukemia inhibitory factor and sensory perception of sound. Biomarker of hepatocellular carcinoma.
Type: ncrna
RefSeq Status: PROVISIONAL
Also known as: mir-130b; MIRN130B
RGD Orthologs
Mouse
Rat
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
GRCh38.p13 Ensembl2221,653,304 - 21,653,385 (+)EnsemblGRCh38hg38GRCh38
GRCh382221,653,304 - 21,653,385 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372222,007,593 - 22,007,674 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362220,337,592 - 20,337,673 (+)NCBINCBI36hg18NCBI36
Celera225,825,133 - 5,825,214 (+)NCBI
Cytogenetic Map22q11.21NCBI
HuRef224,965,417 - 4,965,498 (+)NCBIHuRef
CHM1_12222,007,785 - 22,007,866 (+)NCBICHM1_1
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

References

Additional References at PubMed
PMID:12624257   PMID:12919684   PMID:15634332   PMID:15800047   PMID:16381832   PMID:17573714   PMID:17604727   PMID:17616659   PMID:18974142   PMID:21037258   PMID:21537871   PMID:21761344  
PMID:22005523   PMID:22847613   PMID:23144465   PMID:23392577   PMID:24027433   PMID:24040078   PMID:24129885   PMID:24468585   PMID:24498407   PMID:24681352   PMID:25123453   PMID:25154741  
PMID:25155039   PMID:25505270   PMID:25617495   PMID:25637514   PMID:25802328   PMID:25952368   PMID:26183697   PMID:26241672   PMID:26316103   PMID:26501192   PMID:26573160   PMID:26646931  
PMID:26653558   PMID:26711782   PMID:26717956   PMID:26837280   PMID:26861561   PMID:26873488   PMID:26902120   PMID:26927562   PMID:26953888   PMID:27122306   PMID:27364335   PMID:27391066  
PMID:27603512   PMID:28042869   PMID:28107197   PMID:28163094   PMID:28165066   PMID:28166834   PMID:28192399   PMID:28414100   PMID:28442776   PMID:28534976   PMID:28682433   PMID:28748534  
PMID:29115407   PMID:29192645   PMID:29512748   PMID:29620214   PMID:30153957   PMID:30260005   PMID:30443973   PMID:30858505   PMID:30957284   PMID:31061410   PMID:31117970   PMID:31184707  
PMID:31195398   PMID:31228937   PMID:31266828   PMID:31368668   PMID:31389608   PMID:31418900   PMID:31660696   PMID:31724825   PMID:31821038   PMID:31858569   PMID:32019397   PMID:32483145  
PMID:32559300   PMID:32660626   PMID:32811645   PMID:32999430   PMID:33021154   PMID:33099953   PMID:33300069   PMID:33308227   PMID:33336753   PMID:33582305   PMID:34111240   PMID:34755560  


Genomics

Comparative Map Data
MIR130B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2221,653,304 - 21,653,385 (+)EnsemblGRCh38hg38GRCh38
GRCh382221,653,304 - 21,653,385 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372222,007,593 - 22,007,674 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362220,337,592 - 20,337,673 (+)NCBINCBI36hg18NCBI36
Celera225,825,133 - 5,825,214 (+)NCBI
Cytogenetic Map22q11.21NCBI
HuRef224,965,417 - 4,965,498 (+)NCBIHuRef
CHM1_12222,007,785 - 22,007,866 (+)NCBICHM1_1
Mir130b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391616,941,925 - 16,942,006 (-)NCBIGRCm39mm39
GRCm39 Ensembl1616,941,925 - 16,942,006 (-)Ensembl
GRCm381617,124,061 - 17,124,142 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1617,124,061 - 17,124,142 (-)EnsemblGRCm38mm10GRCm38
MGSCv371617,124,154 - 17,124,235 (-)NCBIGRCm37mm9NCBIm37
Celera1617,696,855 - 17,696,936 (-)NCBICelera
Cytogenetic Map16A3NCBI
Mir130b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21183,880,163 - 83,880,244 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1183,880,163 - 83,880,244 (+)Ensembl
Rnor_6.01188,129,773 - 88,129,854 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1188,129,773 - 88,129,854 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01191,182,320 - 91,182,401 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1182,635,894 - 82,635,975 (+)NCBICelera
Cytogenetic Map11q23NCBI

miRNA Target Status

Confirmed Targets
Gene TargetMature miRNAMethod NameResult TypeData TypeSupport TypePMID
ASF1Bhsa-miR-130b-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
TP53INP1hsa-miR-130b-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI18974142
UVRAGhsa-miR-130b-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22228303
RUNX3hsa-miR-130b-3pMirtarbaseexternal_infoqRT-PCR//Western blotFunctional MTI20176475
RUNX3hsa-miR-130b-3pMirtarbaseexternal_infoSequencingFunctional MTI (Weak)20371350
PPARGhsa-miR-130b-3pMirtarbaseexternal_infoGFP reporter assay//qRT-PCR//Western blotFunctional MTI21135128
CSF1hsa-miR-130b-3pMirtarbaseexternal_infoELISA//Luciferase reporter assay//qRT-PCRFunctional MTI22005523
ZEB1hsa-miR-130b-3pMirtarbaseexternal_infoChIP-seq//Luciferase reporter assay//qRT-PCR//WestFunctional MTI22847613
DICER1hsa-miR-130b-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23392577
PGRMC1hsa-miR-130b-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
EFCAB14hsa-miR-130b-3pTarbaseexternal_infoSequencingPOSITIVE
DICER1hsa-miR-130b-3pOncomiRDBexternal_infoNANA23392577
CSF1hsa-miR-130b-3pOncomiRDBexternal_infoNANA22005523
NR3C1hsa-miR-130b-3pOncomiRDBexternal_infoNANA21761344
TP53INP1hsa-miR-130b-3pOncomiRDBexternal_infoNANA21112564

Predicted Targets
Summary Value
Count of predictions:37324
Count of gene targets:12130
Count of transcripts:25321
Interacting mature miRNAs:hsa-miR-130b-3p, hsa-miR-130b-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
High
Medium 1 1
Low 55 114 147 5 49 3 179 48 215 5 169 170 2 45 130
Below cutoff 73 113 87 28 39 16 97 79 289 9 76 61 12 43 60

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000385018
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2221,653,304 - 21,653,385 (+)Ensembl
RefSeq Acc Id: NR_029845
RefSeq Status: PROVISIONAL
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,653,304 - 21,653,385 (+)NCBI
GRCh372222,007,593 - 22,007,674 (+)RGD
Celera225,825,133 - 5,825,214 (+)RGD
HuRef224,965,417 - 4,965,498 (+)RGD
CHM1_12222,007,785 - 22,007,866 (+)NCBI
Sequence:

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q11.21-11.22(chr22:20671366-22046408)x3 copy number gain See cases [RCV000050932] Chr22:20671366..22046408 [GRCh38]
Chr22:21025654..22400806 [GRCh37]
Chr22:19355654..20730806 [NCBI36]
Chr22:22q11.21-11.22
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 22q11.21-11.22(chr22:21151069-22562663)x1 copy number loss See cases [RCV000051017] Chr22:21151069..22562663 [GRCh38]
Chr22:21505358..22905068 [GRCh37]
Chr22:19835358..21235068 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21603122-22562663)x1 copy number loss See cases [RCV000051147] Chr22:21603122..22562663 [GRCh38]
Chr22:21957411..22905068 [GRCh37]
Chr22:20287411..21235068 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3 copy number gain See cases [RCV000051961] Chr22:20668552..22358488 [GRCh38]
Chr22:21022840..22712836 [GRCh37]
Chr22:19352840..21042836 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1 copy number loss See cases [RCV000053082] Chr22:21454661..22562663 [GRCh38]
Chr22:21808950..22905068 [GRCh37]
Chr22:20138950..21235068 [NCBI36]
Chr22:22q11.21-11.22
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24197852)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|See cases [RCV000053084] Chr22:21454661..24197852 [GRCh38]
Chr22:21808950..24593820 [GRCh37]
Chr22:20138950..22923820 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23301036)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]|See cases [RCV000053085] Chr22:21454661..23301036 [GRCh38]
Chr22:21808950..23643223 [GRCh37]
Chr22:20138950..21973223 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1 copy number loss See cases [RCV000053087] Chr22:21457690..24220231 [GRCh38]
Chr22:21811979..24616199 [GRCh37]
Chr22:20141979..22946199 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1 copy number loss See cases [RCV000053090] Chr22:21562911..24307688 [GRCh38]
Chr22:21917200..24703656 [GRCh37]
Chr22:20247200..23033656 [NCBI36]
Chr22:22q11.21-11.23
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 22q11.21-11.22(chr22:21623411-22617259)x1 copy number loss See cases [RCV000053107] Chr22:21623411..22617259 [GRCh38]
Chr22:21977700..22959729 [GRCh37]
Chr22:20307700..21289729 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21623411-23315617)x1 copy number loss See cases [RCV000053108] Chr22:21623411..23315617 [GRCh38]
Chr22:21977700..23657804 [GRCh37]
Chr22:20307700..21987804 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726772-23135971)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|See cases [RCV000053061] Chr22:20726772..23135971 [GRCh38]
Chr22:21081060..23478158 [GRCh37]
Chr22:19411060..21808158 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21150869-22562804)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053157]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053157]|See cases [RCV000053157] Chr22:21150869..22562804 [GRCh38]
Chr22:21505158..22905209 [GRCh37]
Chr22:19835158..21235209 [NCBI36]
Chr22:22q11.21-11.22
uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21386914-23305976)x3 copy number gain See cases [RCV000053158] Chr22:21386914..23305976 [GRCh38]
Chr22:21741203..23648163 [GRCh37]
Chr22:20071203..21978163 [NCBI36]
Chr22:22q11.21-11.23
pathogenic|uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3 copy number gain See cases [RCV000053159] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21-11.22(chr22:21623411-22651271)x3 copy number gain See cases [RCV000053160] Chr22:21623411..22651271 [GRCh38]
Chr22:21977700..22993741 [GRCh37]
Chr22:20307700..21323741 [NCBI36]
Chr22:22q11.21-11.22
pathogenic|uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1 copy number loss See cases [RCV000053074] Chr22:21443815..24235645 [GRCh38]
Chr22:21798104..24631613 [GRCh37]
Chr22:20128104..22961613 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21443815-23397298)x1 copy number loss See cases [RCV000053075] Chr22:21443815..23397298 [GRCh38]
Chr22:21798104..23739485 [GRCh37]
Chr22:20128104..22069485 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454461-24247296)x1 copy number loss See cases [RCV000053077] Chr22:21454461..24247296 [GRCh38]
Chr22:21808750..24643264 [GRCh37]
Chr22:20138750..22973264 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24289119)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|See cases [RCV000053079] Chr22:21454661..24289119 [GRCh38]
Chr22:21808950..24685087 [GRCh37]
Chr22:20138950..23015087 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
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 22q11.1-13.33(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 22q11.21-11.22(chr22:21583391-21832041)x3 copy number gain See cases [RCV000134516] Chr22:21583391..21832041 [GRCh38]
Chr22:21937680..22186330 [GRCh37]
Chr22:20267680..20516330 [NCBI36]
Chr22:22q11.21-11.22
uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:20671366-22088366)x3 copy number gain See cases [RCV000134888] Chr22:20671366..22088366 [GRCh38]
Chr22:21025654..22442778 [GRCh37]
Chr22:19355654..20772778 [NCBI36]
Chr22:22q11.21-11.22
uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x1 copy number loss See cases [RCV000135739] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x3 copy number gain See cases [RCV000136016] Chr22:21454649..22562620 [GRCh38]
Chr22:21808938..22905025 [GRCh37]
Chr22:20138938..21235025 [NCBI36]
Chr22:22q11.21-11.22
pathogenic|uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x1 copy number loss See cases [RCV000136017] Chr22:21454649..22562620 [GRCh38]
Chr22:21808938..22905025 [GRCh37]
Chr22:20138938..21235025 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1 copy number loss See cases [RCV000136889] Chr22:20726972..24197852 [GRCh38]
Chr22:21081260..24593820 [GRCh37]
Chr22:19411260..22923820 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21444416-22574173)x1 copy number loss See cases [RCV000136776] Chr22:21444416..22574173 [GRCh38]
Chr22:21798705..22916612 [GRCh37]
Chr22:20128705..21246612 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1 copy number loss See cases [RCV000137685] Chr22:21454661..24247140 [GRCh38]
Chr22:21808950..24643108 [GRCh37]
Chr22:20138950..22973108 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x3 copy number gain See cases [RCV000137493] Chr22:21151069..22617194 [GRCh38]
Chr22:21505358..22959664 [GRCh37]
Chr22:19835358..21289664 [NCBI36]
Chr22:22q11.21-11.22
uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x1 copy number loss See cases [RCV000137494] Chr22:21151069..22617194 [GRCh38]
Chr22:21505358..22959664 [GRCh37]
Chr22:19835358..21289664 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23312035)x1 copy number loss See cases [RCV000137767] Chr22:21454661..23312035 [GRCh38]
Chr22:21808950..23654222 [GRCh37]
Chr22:20138950..21984222 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3 copy number gain See cases [RCV000138673] Chr22:21207181..24247140 [GRCh38]
Chr22:21561470..24643108 [GRCh37]
Chr22:19891470..22973108 [NCBI36]
Chr22:22q11.21-11.23
uncertain significance
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 22q11.21-11.22(chr22:21151097-22562620)x1 copy number loss See cases [RCV000139333] Chr22:21151097..22562620 [GRCh38]
Chr22:21505386..22905025 [GRCh37]
Chr22:19835386..21235025 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21583391-22647760)x3 copy number gain See cases [RCV000140091] Chr22:21583391..22647760 [GRCh38]
Chr22:21937680..22990230 [GRCh37]
Chr22:20267680..21320230 [NCBI36]
Chr22:22q11.21-11.22
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 22q11.21-11.22(chr22:21447344-22655838)x1 copy number loss See cases [RCV000141561] Chr22:21447344..22655838 [GRCh38]
Chr22:21801633..22998308 [GRCh37]
Chr22:20131633..21328308 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22489199)x3 copy number gain See cases [RCV000142677] Chr22:21151069..22489199 [GRCh38]
Chr22:21505358..22843524 [GRCh37]
Chr22:19835358..21173524 [NCBI36]
Chr22:22q11.21-11.22
uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22617194)x1 copy number loss See cases [RCV000143267] Chr22:21454661..22617194 [GRCh38]
Chr22:21808950..22959664 [GRCh37]
Chr22:20138950..21289664 [NCBI36]
Chr22:22q11.21-11.22
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3 copy number gain See cases [RCV000148078] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23
uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1 copy number loss See cases [RCV000148145] Chr22:21454661..22562663 [GRCh38]
Chr22:21808950..22905068 [GRCh37]
Chr22:20138950..21235068 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1 copy number loss See cases [RCV000240250] Chr22:20749625..23972878 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21923858-22963000)x1 copy number loss See cases [RCV000240088] Chr22:21923858..22963000 [GRCh37]
Chr22:22q11.21-11.22
likely pathogenic
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 copy number loss Premature ovarian failure [RCV000225330] Chr22:18738296..25914592 [GRCh37]
Chr22:22q11.21-12.1
benign
GRCh37/hg19 22q11.21-11.23(chr22:21400683-23654222)x3 copy number gain See cases [RCV000240040] Chr22:21400683..23654222 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21923858-23025727)x3 copy number gain See cases [RCV000240579] Chr22:21923858..23025727 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3 copy number gain See cases [RCV000240483] Chr22:17264511..23238029 [GRCh37]
Chr22:22q11.1-11.22
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:21998149-22053776)x1 copy number loss See cases [RCV000446514] Chr22:21998149..22053776 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss See cases [RCV000446664] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21025654-22336268)x3 copy number gain See cases [RCV000445877] Chr22:21025654..22336268 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21804562-24659578)x3 copy number gain See cases [RCV000445928] Chr22:21804562..24659578 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21798906-22997928)x1 copy number loss See cases [RCV000448269] Chr22:21798906..22997928 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3 copy number gain See cases [RCV000448224] Chr22:16888899..23723805 [GRCh37]
Chr22:22q11.1-11.23
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21804562-23781918)x3 copy number gain See cases [RCV000510372] Chr22:21804562..23781918 [GRCh37]
Chr22:22q11.21-11.23
uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962196)x1 copy number loss See cases [RCV000510228] Chr22:21798907..22962196 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3 copy number gain See cases [RCV000510487] Chr22:21798907..24963935 [GRCh37]
Chr22:22q11.21-11.23
uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798907-23666232)x1 copy number loss See cases [RCV000511441] Chr22:21798907..23666232 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss See cases [RCV000511898] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22
uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x1 copy number loss See cases [RCV000511924] Chr22:21798907..22962962 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21800796-22998050)x3 copy number gain See cases [RCV000510925] Chr22:21800796..22998050 [GRCh37]
Chr22:22q11.21-11.22
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23804835)x1 copy number loss not provided [RCV000684507] Chr22:21465661..23804835 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1 copy number loss not provided [RCV000684515] Chr22:20716876..23819697 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1 copy number loss not provided [RCV000684520] Chr22:21465661..24885806 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1 copy number loss not provided [RCV000684518] Chr22:21465661..24653491 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21804562-22962962)x3 copy number gain not provided [RCV000684491] Chr22:21804562..22962962 [GRCh37]
Chr22:22q11.21-11.22
uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21800470-22962196)x1 copy number loss not provided [RCV000684492] Chr22:21800470..22962196 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21465661-22962196)x1 copy number loss not provided [RCV000684499] Chr22:21465661..22962196 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:21679616-22095920)x1 copy number loss not provided [RCV000741778] Chr22:21679616..22095920 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21-11.22(chr22:21689086-22979897)x1 copy number loss not provided [RCV000741779] Chr22:21689086..22979897 [GRCh37]
Chr22:22q11.21-11.22
uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21910280-22972396)x1 copy number loss not provided [RCV000741784] Chr22:21910280..22972396 [GRCh37]
Chr22:22q11.21-11.22
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313) copy number loss Chromosome 22q11.2 deletion syndrome, distal [RCV000767634] Chr22:21797384..23630313 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21800032-23237674) copy number gain not provided [RCV000767631] Chr22:21800032..23237674 [GRCh37]
Chr22:22q11.21-11.22
likely pathogenic
NC_000022.10:g.21808950_22963000del1154051 deletion Chromosome 22q11.2 deletion syndrome, distal [RCV000785668] Chr22:21808950..22963000 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21915095-22603542)x3 copy number gain not provided [RCV000849651] Chr22:21915095..22603542 [GRCh37]
Chr22:22q11.21-11.22
uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21922619-23654064)x1 copy number loss not provided [RCV000848992] Chr22:21922619..23654064 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21979096-22941426)x3 copy number gain See cases [RCV001194531] Chr22:21979096..22941426 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21798906-23666232)x1 copy number loss not provided [RCV000849290] Chr22:21798906..23666232 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23810042)x1 copy number loss not provided [RCV000846294] Chr22:21465661..23810042 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.10:g.(21822774_21914652)_(22922798_23025613)del deletion Chromosome 22q11.2 deletion syndrome, distal [RCV001199824] Chr22:21914652..22922798 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23666232)x3 copy number gain not provided [RCV001007496] Chr22:21465661..23666232 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21947428-22962196)x1 copy number loss not provided [RCV001007497] Chr22:21947428..22962196 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
Single allele deletion DiGeorge Syndrome [RCV001003853] Chr22:18475385..23764120 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3 copy number gain not provided [RCV001007162] Chr22:16888899..22290476 [GRCh37]
Chr22:22q11.1-11.22
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss not provided [RCV001007171] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3 copy number gain not provided [RCV001007169] Chr22:20732808..25193541 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21798906-23805099)x1 copy number loss not provided [RCV001259986] Chr22:21798906..23805099 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:19035089-22672555)x3 copy number gain not provided [RCV001259984] Chr22:19035089..22672555 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.10:g.21514655_22986816del deletion Chromosome 22q11.2 deletion syndrome, distal [RCV001250235] Chr22:21514655..22986816 [GRCh37]
Chr22:22q11.21-11.22
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31515 AgrOrtholog
COSMIC MIR130B COSMIC
Ensembl Genes ENSG00000283871 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000385018 ENTREZGENE
GTEx ENSG00000283871 GTEx
HGNC ID HGNC:31515 ENTREZGENE
Human Proteome Map MIR130B Human Proteome Map
miRBase MI0000748 ENTREZGENE
NCBI Gene 406920 ENTREZGENE
OMIM 613682 OMIM
PharmGKB PA164722471 PharmGKB
RNAcentral URS00002C0FCB RNACentral
  URS000032A4F7 RNACentral
  URS000075E379 RNACentral