MIR8485 (microRNA 8485) - Rat Genome Database

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Pathways
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Gene: MIR8485 (microRNA 8485) Homo sapiens
Analyze
Symbol: MIR8485
Name: microRNA 8485
RGD ID: 9685638
HGNC Page HGNC:50839
Description: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
Type: ncrna (Ensembl: miRNA)
RefSeq Status: PROVISIONAL
Previously known as: hsa-mir-8485
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38250,696,172 - 50,696,262 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl250,696,172 - 50,696,262 (-)EnsemblGRCh38hg38GRCh38
GRCh37250,923,310 - 50,923,400 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map2p16.3NCBI
CHM1_1250,854,113 - 50,854,203 (-)NCBICHM1_1
T2T-CHM13v2.0250,692,343 - 50,692,429 (-)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
progesterone  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References
Additional References at PubMed
PMID:16381832   PMID:23827811   PMID:30896790   PMID:31898972   PMID:35876212  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p16.3(chr2:49910932-52462336)x1 copy number loss See cases [RCV000139317] Chr2:49910932..52462336 [GRCh38]
Chr2:50138070..52689474 [GRCh37]
Chr2:49991574..52542978 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50599412-50698758)x1 copy number loss See cases [RCV000139429] Chr2:50599412..50698758 [GRCh38]
Chr2:50826550..50925896 [GRCh37]
Chr2:50680054..50779400 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50691323-50780852)x1 copy number loss See cases [RCV000139529] Chr2:50691323..50780852 [GRCh38]
Chr2:50918461..51007990 [GRCh37]
Chr2:50771965..50861494 [NCBI36]
Chr2:2p16.3		 likely benign
GRCh38/hg38 2p16.3(chr2:50624294-51265729)x1 copy number loss See cases [RCV000140933] Chr2:50624294..51265729 [GRCh38]
Chr2:50851432..51492867 [GRCh37]
Chr2:50704936..51346371 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:48929614-50839499)x1 copy number loss See cases [RCV000143016] Chr2:48929614..50839499 [GRCh38]
Chr2:49156753..51066637 [GRCh37]
Chr2:49010257..50920141 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50619962-50755034)x1 copy number loss See cases [RCV000137304] Chr2:50619962..50755034 [GRCh38]
Chr2:50847100..50982172 [GRCh37]
Chr2:50700604..50835676 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50587538-50730317)x1 copy number loss See cases [RCV000140117] Chr2:50587538..50730317 [GRCh38]
Chr2:50814676..50957455 [GRCh37]
Chr2:50668180..50810959 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2		 uncertain significance
GRCh38/hg38 2p16.3(chr2:50574983-50710365)x1 copy number loss See cases [RCV000137561] Chr2:50574983..50710365 [GRCh38]
Chr2:50802121..50937503 [GRCh37]
Chr2:50655625..50791007 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50619962-51329577)x1 copy number loss See cases [RCV000140869] Chr2:50619962..51329577 [GRCh38]
Chr2:50847100..51556715 [GRCh37]
Chr2:50700604..51410219 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50591217-50931162)x1 copy number loss See cases [RCV000138906] Chr2:50591217..50931162 [GRCh38]
Chr2:50818355..51158300 [GRCh37]
Chr2:50671859..51011804 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50623553-50754975)x1 copy number loss See cases [RCV000142640] Chr2:50623553..50754975 [GRCh38]
Chr2:50850691..50982113 [GRCh37]
Chr2:50704195..50835617 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 copy number gain See cases [RCV000052943] Chr2:40738282..57863821 [GRCh38]
Chr2:40965422..58090956 [GRCh37]
Chr2:40818926..57944460 [NCBI36]
Chr2:2p22.1-16.1		 pathogenic
GRCh38/hg38 2p16.3(chr2:50682627-51107991)x1 copy number loss See cases [RCV000141354] Chr2:50682627..51107991 [GRCh38]
Chr2:50909765..51335129 [GRCh37]
Chr2:50763269..51188633 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p16.3(chr2:50654857-50720591)x1 copy number loss See cases [RCV000141454] Chr2:50654857..50720591 [GRCh38]
Chr2:50881995..50947729 [GRCh37]
Chr2:50735499..50801233 [NCBI36]
Chr2:2p16.3		 uncertain significance
GRCh38/hg38 2p16.3(chr2:50498526-50830659)x1 copy number loss See cases [RCV000138635] Chr2:50498526..50830659 [GRCh38]
Chr2:50725664..51057797 [GRCh37]
Chr2:50579168..50911301 [NCBI36]
Chr2:2p16.3		 uncertain significance
GRCh38/hg38 2p16.3(chr2:50654953-50720666)x1 copy number loss See cases [RCV000138692] Chr2:50654953..50720666 [GRCh38]
Chr2:50882091..50947804 [GRCh37]
Chr2:50735595..50801308 [NCBI36]
Chr2:2p16.3		 likely benign|uncertain significance
GRCh38/hg38 2p16.3(chr2:50172113-50801952)x3 copy number gain See cases [RCV000142415] Chr2:50172113..50801952 [GRCh38]
Chr2:50399251..51029090 [GRCh37]
Chr2:50252755..50882594 [NCBI36]
Chr2:2p16.3		 uncertain significance
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
GRCh38/hg38 2p16.3(chr2:50665709-50755034)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052121]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052121]|See cases [RCV000052121] Chr2:50665709..50755034 [GRCh38]
Chr2:50892847..50982172 [GRCh37]
Chr2:50746351..50835676 [NCBI36]
Chr2:2p16.3		 uncertain significance
Single allele deletion Pitt-Hopkins-like syndrome 2 [RCV000678023] Chr2:50289412..51032600 [GRCh38]
Chr2:50516550..51259738 [GRCh37]
Chr2:2p16.3		 pathogenic
NC_000002.12:g.(?_50496341)_(51317388_?)del deletion Autism [RCV000754262] Chr2:50496341..51317388 [GRCh38]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50448670-50909614)x1 copy number loss See cases [RCV000053982] Chr2:50448670..50909614 [GRCh38]
Chr2:50675808..51136752 [GRCh37]
Chr2:50529312..50990256 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50488123-50945044)x1 copy number loss See cases [RCV000054014] Chr2:50488123..50945044 [GRCh38]
Chr2:50715261..51172182 [GRCh37]
Chr2:50568765..51025686 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50548752-50755034)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054015]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054015]|See cases [RCV000054015] Chr2:50548752..50755034 [GRCh38]
Chr2:50775890..50982172 [GRCh37]
Chr2:50629394..50835676 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50498591-50710365)x1 copy number loss See cases [RCV000134952] Chr2:50498591..50710365 [GRCh38]
Chr2:50725729..50937503 [GRCh37]
Chr2:50579233..50791007 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50453657-50710365)x1 copy number loss See cases [RCV000134953] Chr2:50453657..50710365 [GRCh38]
Chr2:50680795..50937503 [GRCh37]
Chr2:50534299..50791007 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50682627-51009921)x1 copy number loss See cases [RCV000134005] Chr2:50682627..51009921 [GRCh38]
Chr2:50909765..51237059 [GRCh37]
Chr2:50763269..51090563 [NCBI36]
Chr2:2p16.3		 uncertain significance
GRCh38/hg38 2p16.3(chr2:50665709-50856331)x1 copy number loss See cases [RCV000136914] Chr2:50665709..50856331 [GRCh38]
Chr2:50892847..51083469 [GRCh37]
Chr2:50746351..50936973 [NCBI36]
Chr2:2p16.3		 uncertain significance
NC_000002.12:g.(?_50465422)_(51032054_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000649762] Chr2:50465422..51032054 [GRCh38]
Chr2:50692560..51259192 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50590007-50802034) copy number loss Autism spectrum disorder [RCV003883390] Chr2:50590007..50802034 [GRCh38]
Chr2:2p16.3		 likely pathogenic

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
High
Medium 1
Low 8 1 3 2 20 2 56 7 4 15 17
Below cutoff 13 4 3 2 1 2 9 7 71 1 4 10 1 8

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000401372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,696,172 - 50,696,262 (-)Ensembl
RefSeq Acc Id: NR_130470
RefSeq Status: PROVISIONAL
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38250,696,172 - 50,696,262 (-)NCBI
CHM1_1250,854,113 - 50,854,203 (-)NCBI
T2T-CHM13v2.0250,692,343 - 50,692,429 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC MIR8485 COSMIC
Ensembl Genes ENSG00000216191 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000401372 ENTREZGENE
GTEx ENSG00000216191 GTEx
HGNC ID HGNC:50839 ENTREZGENE
Human Proteome Map MIR8485 Human Proteome Map
miRBase MI0027288 ENTREZGENE
NCBI Gene MIR8485 ENTREZGENE
RNAcentral URS000076B539 RNACentral
  URS000079BE2A RNACentral