MIR99A (microRNA 99a) - Rat Genome Database

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Gene: MIR99A (microRNA 99a) Homo sapiens
Analyze
Symbol: MIR99A
Name: microRNA 99a
RGD ID: 1349808
HGNC Page HGNC:31650
Description: Enables mRNA base-pairing translational repressor activity. Involved in miRNA-mediated post-transcriptional gene silencing; negative regulation of interleukin-6-mediated signaling pathway; and negative regulation of receptor signaling pathway via STAT. Located in extracellular space and extracellular vesicle.
Type: ncrna (Ensembl: miRNA)
RefSeq Status: PROVISIONAL
Previously known as: mir-99a; MIRN99A
RGD Orthologs
Mouse
Rat
Dog
Pig
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382116,539,089 - 16,539,169 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2116,539,089 - 16,539,169 (+)EnsemblGRCh38hg38GRCh38
GRCh372117,911,409 - 17,911,489 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362116,833,279 - 16,833,359 (+)NCBINCBI36Build 36hg18NCBI36
Celera213,081,546 - 3,081,626 (+)NCBICelera
Cytogenetic Map21q21.1NCBI
HuRef213,292,083 - 3,292,163 (+)NCBIHuRef
CHM1_12117,471,772 - 17,471,852 (+)NCBICHM1_1
T2T-CHM13v2.02114,894,509 - 14,894,589 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

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:11914277   PMID:16381832   PMID:17604727   PMID:17616659   PMID:21037258   PMID:21212412   PMID:21383697   PMID:21687694   PMID:21785383   PMID:21878637   PMID:22024720   PMID:22920721  
PMID:23173671   PMID:23292834   PMID:23298836   PMID:23409016   PMID:23503464   PMID:23724047   PMID:23731011   PMID:23893385   PMID:23915977   PMID:24030073   PMID:24410957   PMID:24456664  
PMID:24503111   PMID:24637915   PMID:24668416   PMID:24810364   PMID:24957100   PMID:25046358   PMID:25071007   PMID:25187230   PMID:25197016   PMID:25348507   PMID:25352177   PMID:25571789  
PMID:25826415   PMID:25950115   PMID:25990459   PMID:26055579   PMID:26163618   PMID:26417931   PMID:26455324   PMID:26646931   PMID:26986073   PMID:27340920   PMID:27562321   PMID:27706621  
PMID:27801668   PMID:27886437   PMID:27994509   PMID:28592118   PMID:28624790   PMID:28798470   PMID:28800315   PMID:29072692   PMID:29441905   PMID:29515250   PMID:29608247   PMID:29679612  
PMID:29997385   PMID:30223386   PMID:30374732   PMID:30396333   PMID:30443946   PMID:30560585   PMID:30738460   PMID:30816432   PMID:30856381   PMID:30904360   PMID:30915749   PMID:31210292  
PMID:31325426   PMID:31539124   PMID:32078828   PMID:32126314   PMID:32605105   PMID:33023154   PMID:33050096   PMID:33177704   PMID:33198772   PMID:33657992   PMID:33907778   PMID:34038200  
PMID:34186058   PMID:34586732   PMID:34668631   PMID:34687203   PMID:35148461   PMID:35532870   PMID:36061862   PMID:36127685   PMID:36330052   PMID:36630972   PMID:36927435   PMID:37531026  
PMID:37925811   PMID:38320572   PMID:38494582  


Genomics

Comparative Map Data
MIR99A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382116,539,089 - 16,539,169 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2116,539,089 - 16,539,169 (+)EnsemblGRCh38hg38GRCh38
GRCh372117,911,409 - 17,911,489 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362116,833,279 - 16,833,359 (+)NCBINCBI36Build 36hg18NCBI36
Celera213,081,546 - 3,081,626 (+)NCBICelera
Cytogenetic Map21q21.1NCBI
HuRef213,292,083 - 3,292,163 (+)NCBIHuRef
CHM1_12117,471,772 - 17,471,852 (+)NCBICHM1_1
T2T-CHM13v2.02114,894,509 - 14,894,589 (+)NCBIT2T-CHM13v2.0
Mir99a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391677,395,824 - 77,395,888 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1677,395,824 - 77,395,888 (+)EnsemblGRCm39 Ensembl
GRCm381677,598,936 - 77,599,000 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1677,598,936 - 77,599,000 (+)EnsemblGRCm38mm10GRCm38
MGSCv371677,599,181 - 77,599,245 (+)NCBIGRCm37MGSCv37mm9NCBIm37
Celera1677,825,926 - 77,825,990 (+)NCBICelera
Cytogenetic Map16C3.1NCBI
cM Map1644.71NCBI
Mir99a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81129,687,392 - 29,687,472 (+)NCBIGRCr8
mRatBN7.21116,200,443 - 16,200,523 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1116,200,443 - 16,200,523 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1124,854,262 - 24,854,342 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01117,569,310 - 17,569,390 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01116,729,966 - 16,730,046 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01116,052,153 - 16,052,233 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1116,052,153 - 16,052,233 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01119,707,423 - 19,707,503 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1116,206,557 - 16,206,637 (+)NCBICelera
Cytogenetic Map11q11NCBI
MIR99A-1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13113,258,782 - 13,258,840 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3113,258,782 - 13,258,840 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3113,272,588 - 13,272,646 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03113,287,989 - 13,288,047 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.13113,257,490 - 13,257,548 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03113,295,952 - 13,296,010 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03113,696,726 - 13,696,784 (+)NCBIUU_Cfam_GSD_1.0
MIR99A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13181,302,478 - 181,302,567 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113181,302,483 - 181,302,562 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213191,558,610 - 191,558,689 (+)NCBISscrofa10.2Sscrofa10.2susScr3


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 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(chr21:14112717-21297273)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 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 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(chr21:7749532-46670405)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
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
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 21p11.1-q21.2(chr21:10944001-25730963) copy number gain not provided [RCV000767670] Chr21:10944001..25730963 [GRCh37]
Chr21:21p11.1-q21.2		 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 21q11.2-21.2(chr21:15006457-24522577)x1 copy number loss not provided [RCV001007108] Chr21:15006457..24522577 [GRCh37]
Chr21:21q11.2-21.2		 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 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Complete trisomy 21 syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3		 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 21q11.2-21.2(chr21:15006457-26760450) copy number gain not specified [RCV002052720] Chr21:15006457..26760450 [GRCh37]
Chr21:21q11.2-21.2		 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(chr21:15041209-48097372) 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
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
Single allele deletion not provided [RCV002266744] Chr21:16244543..20363082 [GRCh38]
Chr21:21q21.1		 uncertain significance
GRCh37/hg19 21q11.2-21.3(chr21:15006457-29046428)x3 copy number gain See cases [RCV002287838] Chr21:15006457..29046428 [GRCh37]
Chr21:21q11.2-21.3		 pathogenic
GRCh37/hg19 21q11.2-21.1(chr21:15006458-21778529)x1 copy number loss not provided [RCV002473713] Chr21:15006458..21778529 [GRCh37]
Chr21:21q11.2-21.1		 uncertain significance
GRCh37/hg19 21q11.2-21.1(chr21:15006458-19950207)x1 copy number loss not provided [RCV003483372] Chr21:15006458..19950207 [GRCh37]
Chr21:21q11.2-21.1		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3 copy number gain not provided [RCV003485218] Chr21:15006458..45674637 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
miRNA Target Status

Confirmed Targets
Gene TargetMature miRNAMethod NameResult TypeData TypeSupport TypePMID
CLTChsa-miR-99a-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
RAVER2hsa-miR-99a-5pMirtarbaseexternal_infoImmunoprecipitaion//Luciferase reporter assay//WesFunctional MTI17637574
MTORhsa-miR-99a-5pMirtarbaseexternal_infoFACS//Luciferase reporter assay//qRT-PCR//Western Functional MTI22299047
MTORhsa-miR-99a-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI23292834
MTORhsa-miR-99a-5pMirtarbaseexternal_infoReporter assay;Western blotFunctional MTI21383697
IGF1Rhsa-miR-99a-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI21687694
FGFR3hsa-miR-99a-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI19843843
SERPINE1hsa-miR-99a-5pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI21175428
AGO2hsa-miR-99a-5pMirtarbaseexternal_infoSequencingFunctional MTI (Weak)20371350
MRPS33hsa-miR-99a-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
FGFR3hsa-miR-99a-5pTarbaseexternal_infoReporter GenePOSITIVE
FGFR3hsa-miR-99a-5pTarbaseexternal_infoWesternblitPOSITIVE
COQ2hsa-miR-99a-5pTarbaseexternal_infoSequencingPOSITIVE
MTORhsa-miR-99a-5pMirecordsexternal_infoNANA20484036
FGFR3hsa-miR-99a-5pMirecordsexternal_infoNANA19843843
MTORhsa-miR-99a-5pOncomiRDBexternal_infoNANA23292834
MTORhsa-miR-99a-5pOncomiRDBexternal_infoNANA23173671
MTORhsa-miR-99a-5pOncomiRDBexternal_infoNANA22751686
IGF1Rhsa-miR-99a-5pOncomiRDBexternal_infoNANA21878637
MTORhsa-miR-99a-5pOncomiRDBexternal_infoNANA21383697
SMARCA5hsa-miR-99a-5pOncomiRDBexternal_infoNANA21212412
IGF1Rhsa-miR-99a-5pOncomiRDBexternal_infoNANA20484036

Predicted Targets
Summary Value
Count of predictions:9963
Count of gene targets:5688
Count of transcripts:9379
Interacting mature miRNAs:hsa-miR-99a-3p, hsa-miR-99a-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 adipose tissue appendage entire extraembryonic component
High
Medium 2
Low 8 1 8 2 18 2 11 16 32 8 33 18 1 4 1
Below cutoff 4 5 11 8 7 14 4 10 7 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000384906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2116,539,089 - 16,539,169 (+)Ensembl
RefSeq Acc Id: NR_029514
RefSeq Status: PROVISIONAL
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382116,539,089 - 16,539,169 (+)NCBI
GRCh372117,911,409 - 17,911,489 (+)RGD
Celera213,081,546 - 3,081,626 (+)RGD
HuRef213,292,083 - 3,292,163 (+)RGD
CHM1_12117,471,772 - 17,471,852 (+)NCBI
T2T-CHM13v2.02114,894,509 - 14,894,589 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31650 AgrOrtholog
COSMIC MIR99A COSMIC
Ensembl Genes ENSG00000207638 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000384906 ENTREZGENE
GTEx ENSG00000207638 GTEx
HGNC ID HGNC:31650 ENTREZGENE
Human Proteome Map MIR99A Human Proteome Map
miRBase MI0000101 ENTREZGENE
NCBI Gene 407055 ENTREZGENE
OMIM 614509 OMIM
PharmGKB PA164723024 PharmGKB
RNAcentral URS0000157026 RNACentral
  URS0000208A34 RNACentral
  URS00005C62FC RNACentral