MIR133A1 (microRNA 133a-1) - Rat Genome Database

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Gene: MIR133A1 (microRNA 133a-1) Homo sapiens
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Symbol: MIR133A1
Name: microRNA 133a-1
RGD ID: 1352770
HGNC Page HGNC:31517
Description: Enables mRNA 3'-UTR binding activity and mRNA base-pairing post-transcriptional repressor activity. Involved in several processes, including negative regulation of low-density lipoprotein particle clearance; negative regulation of vascular associated smooth muscle cell proliferation; and positive regulation of macromolecule metabolic process. Located in extracellular space. Implicated in hepatocellular carcinoma. Biomarker of coronary artery disease and hepatocellular carcinoma.
Type: ncrna (Ensembl: miRNA)
RefSeq Status: PROVISIONAL
Previously known as: mir-133a-1; MIRN133A1
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
GRCh381821,825,698 - 21,825,785 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1821,825,698 - 21,825,785 (-)Ensemblhg38GRCh38
GRCh371819,405,659 - 19,405,746 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361817,659,656 - 17,659,743 (-)NCBIBuild 36Build 36hg18NCBI36
Celera1816,211,722 - 16,211,809 (-)NCBICelera
Cytogenetic Map18q11.2NCBI
HuRef1816,253,046 - 16,253,133 (-)NCBIHuRef
CHM1_11819,332,764 - 19,332,851 (-)NCBICHM1_1
T2T-CHM13v2.01822,010,746 - 22,010,833 (-)NCBIT2T-CHM13v2.0
JBrowse:




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
cellular response to cytokine stimulus  (IDA)
cellular response to leukemia inhibitory factor  (ISO)
miRNA-mediated gene silencing by mRNA destabilization  (IDA)
miRNA-mediated post-transcriptional gene silencing  (IDA,IEA,IMP,ISO)
negative regulation of cardiac muscle cell apoptotic process  (ISS)
negative regulation of cardiac muscle hypertrophy  (ISS)
negative regulation of cell migration  (IDA)
negative regulation of cell population proliferation  (IDA)
negative regulation of epidermal growth factor receptor signaling pathway  (IDA)
negative regulation of ERK1 and ERK2 cascade  (ISS)
negative regulation of G1/S transition of mitotic cell cycle  (ISS)
negative regulation of gene expression  (ISO)
negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide  (ISS)
negative regulation of low-density lipoprotein particle clearance  (IDA)
negative regulation of membrane repolarization during cardiac muscle cell action potential  (IMP)
negative regulation of myoblast proliferation  (ISS)
negative regulation of osteoblast differentiation  (ISO)
negative regulation of phospholipase C/protein kinase C signal transduction  (ISS)
negative regulation of vascular associated smooth muscle cell proliferation  (IDA)
negative regulation of xenobiotic detoxification by transmembrane export across the plasma membrane  (IDA)
positive regulation of cardiocyte differentiation  (IDA)
positive regulation of cell fate commitment  (ISS)
positive regulation of gene expression  (IDA,ISO)
positive regulation of myotube differentiation  (ISS)
regulation of adenylate cyclase-inhibiting adrenergic receptor signaling pathway  (ISS)
regulation of cardiac muscle cell proliferation  (ISO)
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  (ISS)
regulation of heart rate by hormone  (ISS)
regulation of membrane repolarization during ventricular cardiac muscle cell action potential  (ISS)
regulation of ventricular cardiac muscle cell membrane repolarization  (ISS)
response to bacterium  (ISO)
response to oxygen levels  (ISO)

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. MiR-320a contributes to atherogenesis by augmenting multiple risk factors and down-regulating SRF. Chen C, etal., J Cell Mol Med. 2015 May;19(5):970-85. doi: 10.1111/jcmm.12483. Epub 2015 Feb 27.
2. A conserved MADS-box phosphorylation motif regulates differentiation and mitochondrial function in skeletal, cardiac, and smooth muscle cells. Mughal W, etal., Cell Death Dis. 2015 Oct 29;6:e1944. doi: 10.1038/cddis.2015.306.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. MiR-133a acts as an anti-oncogene in Hepatocellular carcinoma by inhibiting FOSL2 through TGF-β/Smad3 signaling pathway. Sun L, etal., Biomed Pharmacother. 2018 Nov;107:168-176. doi: 10.1016/j.biopha.2018.07.151. Epub 2018 Aug 6.
Additional References at PubMed
PMID:12007417   PMID:16381832   PMID:16731620   PMID:17604727   PMID:20075508   PMID:20159880   PMID:20468068   PMID:20520763   PMID:20843712   PMID:21037258   PMID:21109942   PMID:21351259  
PMID:21396852   PMID:21642241   PMID:21645416   PMID:22089643   PMID:22163007   PMID:22266319   PMID:22308266   PMID:22378351   PMID:22407299   PMID:22452920   PMID:22713968   PMID:22877943  
PMID:23034410   PMID:23069713   PMID:23154637   PMID:23157812   PMID:23183523   PMID:23206218   PMID:23410519   PMID:23723074   PMID:23756231   PMID:23783274   PMID:23968734   PMID:23988448  
PMID:24053180   PMID:24127040   PMID:24533109   PMID:24809446   PMID:24816813   PMID:24885383   PMID:24920580   PMID:24975488   PMID:25104873   PMID:25146754   PMID:25170220   PMID:25198665  
PMID:25231354   PMID:25280517   PMID:25421410   PMID:25445891   PMID:25518741   PMID:25607810   PMID:25620172   PMID:25714665   PMID:25780292   PMID:25960234   PMID:26005035   PMID:26107945  
PMID:26138587   PMID:26198874   PMID:26239225   PMID:26276722   PMID:26371176   PMID:26398116   PMID:26646931   PMID:26656045   PMID:26845446   PMID:26936647   PMID:26984682   PMID:27121102  
PMID:27154818   PMID:27268657   PMID:27282282   PMID:27383317   PMID:27794430   PMID:28174235   PMID:28257760   PMID:28286270   PMID:28320084   PMID:28376685   PMID:28466778   PMID:28503944  
PMID:28748780   PMID:28869447   PMID:29032398   PMID:29324314   PMID:29325455   PMID:29425279   PMID:29494956   PMID:29608916   PMID:29658868   PMID:29771401   PMID:29885959   PMID:30289952  
PMID:30300116   PMID:30341388   PMID:30429229   PMID:30458455   PMID:30678736   PMID:30810894   PMID:31005252   PMID:31207081   PMID:31249372   PMID:31254364   PMID:31381269   PMID:31511493  
PMID:31736422   PMID:31781298   PMID:31904151   PMID:31926162   PMID:31926493   PMID:31987844   PMID:32061123   PMID:32205184   PMID:32218383   PMID:32251712   PMID:32462982   PMID:32572912  
PMID:32724467   PMID:32928707   PMID:33059643   PMID:33074595   PMID:33200343   PMID:33222435   PMID:33342777   PMID:33501869   PMID:34057242   PMID:34165368   PMID:34575979   PMID:35465807  
PMID:35894157   PMID:36042288   PMID:36067936   PMID:36209087   PMID:36273455   PMID:36656380   PMID:37368192   PMID:37697243   PMID:38659015   PMID:38670210  


Genomics

Comparative Map Data
MIR133A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381821,825,698 - 21,825,785 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1821,825,698 - 21,825,785 (-)Ensemblhg38GRCh38
GRCh371819,405,659 - 19,405,746 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361817,659,656 - 17,659,743 (-)NCBIBuild 36Build 36hg18NCBI36
Celera1816,211,722 - 16,211,809 (-)NCBICelera
Cytogenetic Map18q11.2NCBI
HuRef1816,253,046 - 16,253,133 (-)NCBIHuRef
CHM1_11819,332,764 - 19,332,851 (-)NCBICHM1_1
T2T-CHM13v2.01822,010,746 - 22,010,833 (-)NCBIT2T-CHM13v2.0
Mir133a-1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391810,782,909 - 10,782,976 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1810,782,909 - 10,782,976 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm381810,782,909 - 10,782,976 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1810,782,909 - 10,782,976 (-)Ensemblmm10GRCm38
MGSCv371810,782,907 - 10,782,974 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
Celera1810,812,893 - 10,812,960 (-)NCBICelera
Cytogenetic Map18A1NCBI
cM Map185.4NCBI
Mir133a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8182,157,872 - 2,157,958 (-)NCBIGRCr8GRCr8GRCr8
mRatBN7.2181,885,082 - 1,885,168 (-)NCBImRatBN7.2mRatBN7.2
UTH_Rnor_SHR_Utx182,114,722 - 2,114,808 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0182,902,423 - 2,902,509 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0182,116,604 - 2,116,690 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0182,052,478 - 2,052,564 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0182,085,457 - 2,085,543 (-)NCBIRnor_5.0Rnor_5.0rn5
Celera181,764,873 - 1,764,959 (-)NCBICelera
Cytogenetic Map18p13NCBI
MIR133A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1766,217,486 - 66,217,572 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl766,217,486 - 66,217,572 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha765,672,066 - 65,672,152 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0766,282,216 - 66,282,302 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl766,282,216 - 66,282,302 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1765,948,146 - 65,948,232 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0765,971,074 - 65,971,160 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0766,271,441 - 66,271,527 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
MIR133A-2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6106,998,896 - 106,998,982 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.16106,998,899 - 106,998,971 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2699,485,213 - 99,485,285 (+)NCBISscrofa10.2Sscrofa10.2susScr3


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3 copy number gain See cases [RCV000052545] Chr18:20960320..28601877 [GRCh38]
Chr18:18540281..26181841 [GRCh37]
Chr18:16794279..24435839 [NCBI36]
Chr18:18q11.1-12.1		 pathogenic
GRCh38/hg38 18q11.1-11.2(chr18:20964726-25043457)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052547]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052547]|See cases [RCV000052547] Chr18:20964726..25043457 [GRCh38]
Chr18:18544687..22623421 [GRCh37]
Chr18:16798685..20877419 [NCBI36]
Chr18:18q11.1-11.2		 pathogenic
GRCh38/hg38 18q11.1-11.2(chr18:20964726-24937674)x3 copy number gain See cases [RCV000052548] Chr18:20964726..24937674 [GRCh38]
Chr18:18544687..22517638 [GRCh37]
Chr18:16798685..20771636 [NCBI36]
Chr18:18q11.1-11.2		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3 copy number gain See cases [RCV000141646] Chr18:20949378..34363455 [GRCh38]
Chr18:18529339..31943419 [GRCh37]
Chr18:16783337..30197417 [NCBI36]
Chr18:18q11.1-12.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3 copy number gain See cases [RCV000142226] Chr18:20941324..40360620 [GRCh38]
Chr18:18521285..37940584 [GRCh37]
Chr18:16775283..36194582 [NCBI36]
Chr18:18q11.1-12.3		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3 copy number gain See cases [RCV000143075] Chr18:8779843..24685379 [GRCh38]
Chr18:8779841..22265343 [GRCh37]
Chr18:8769841..20519341 [NCBI36]
Chr18:18p11.22-q11.2		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.21-q11.2(chr18:13340112-23409879) copy number gain See cases [RCV000143455] Chr18:13340112..23409879 [GRCh38]
Chr18:13340111..20989843 [GRCh37]
Chr18:13330111..19243841 [NCBI36]
Chr18:18p11.21-q11.2		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3 copy number gain See cases [RCV000447320] Chr18:12254327..23262749 [GRCh37]
Chr18:18p11.21-q11.2		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3 copy number gain See cases [RCV000512118] Chr18:136226..21657790 [GRCh37]
Chr18:18p11.32-q11.2		 pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1		 pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3 copy number gain not provided [RCV001832915] Chr18:136226..25252276 [GRCh37]
Chr18:18p11.32-q12.1		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NC_000018.9:g.(?_18963480)_(21534612_?)dup duplication Niemann-Pick disease, type C1 [RCV003109309] Chr18:18963480..21534612 [GRCh37]
Chr18:18q11.1-11.2		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3 copy number gain not specified [RCV003987288] Chr18:18529339..26968022 [GRCh37]
Chr18:18q11.1-12.1		 uncertain significance
GRCh37/hg19 18q11.2-23(chr18:19309942-78014123)x3 copy number gain not provided [RCV004819319] Chr18:19309942..78014123 [GRCh37]
Chr18:18q11.2-23		 pathogenic
GRCh37/hg19 18q11.1-11.2(chr18:18541419-19992750)x3 copy number gain not provided [RCV004819636] Chr18:18541419..19992750 [GRCh37]
Chr18:18q11.1-11.2		 uncertain significance
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 copy number gain not provided [RCV000739776] Chr18:18539806..49926444 [GRCh37]
Chr18:18q11.1-21.2		 pathogenic
GRCh37/hg19 18q11.2(chr18:19047402-19737070)x3 copy number gain not provided [RCV000847262] Chr18:19047402..19737070 [GRCh37]
Chr18:18q11.2		 uncertain significance
GRCh37/hg19 18q11.1-12.1(chr18:18611942-26843691)x3 copy number gain not provided [RCV001827640] Chr18:18611942..26843691 [GRCh37]
Chr18:18q11.1-12.1		 uncertain significance
NC_000018.9:g.(?_19383858)_(19780786_?)dup duplication Atrioventricular septal defect 5 [RCV003116344] Chr18:19383858..19780786 [GRCh37]
Chr18:18q11.2		 uncertain significance
Markers in Region
RH94015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371819,405,636 - 19,405,773UniSTSGRCh37
Build 361817,659,634 - 17,659,771RGDNCBI36
Celera1816,211,699 - 16,211,836RGD
Cytogenetic Map18q11.2UniSTS
HuRef1816,253,023 - 16,253,160UniSTS
GeneMap99-GB4 RH Map18170.89UniSTS


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENST00000385052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1821,825,698 - 21,825,785 (-)Ensembl
RefSeq Acc Id: NR_029675
RefSeq Status: PROVISIONAL
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,825,698 - 21,825,785 (-)NCBI
GRCh371819,405,659 - 19,405,746 (-)RGD
Celera1816,211,722 - 16,211,809 (-)RGD
HuRef1816,253,046 - 16,253,133 (-)ENTREZGENE
CHM1_11819,332,764 - 19,332,851 (-)NCBI
T2T-CHM13v2.01822,010,746 - 22,010,833 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31517 AgrOrtholog
COSMIC MIR133A1 COSMIC
Ensembl Genes ENSG00000283927 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000385052 ENTREZGENE
GTEx ENSG00000283927 GTEx
HGNC ID HGNC:31517 ENTREZGENE
Human Proteome Map MIR133A1 Human Proteome Map
miRBase MI0000450 ENTREZGENE
NCBI Gene 406922 ENTREZGENE
OMIM 610254 OMIM
PharmGKB PA164722477 PharmGKB
RNAcentral URS0000383E7F RNACentral
  URS00004C9052 RNACentral
  URS00005EB596 RNACentral