MIR1247 (microRNA 1247) - Rat Genome Database

Name: MIR1247
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: MIR1247 (microRNA 1247) Homo sapiens

Analyze

Symbol:

MIR1247

Name:

microRNA 1247

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

RefSeq Status:

PROVISIONAL

Also known as:

hsa-mir-1247; mir-1247; MIRN1247

Orthologs:

Mus musculus (house mouse) : Mir1247 (microRNA 1247) MGI

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38 Ensembl	14	101,560,287 - 101,560,422 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	14	101,560,287 - 101,560,422 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	14	102,026,624 - 102,026,759 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Celera	14	82,081,713 - 82,081,848 (-)	NCBI
Cytogenetic Map	14	q32.31	NCBI
HuRef	14	82,209,325 - 82,209,460 (-)	NCBI		HuRef
CHM1_1	14	101,965,105 - 101,965,240 (-)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation (Toggle Annotation Detail/Summary View)

Disease Annotations

Gene-Chemical Interaction Annotations

Disease Annotations

Gene-Chemical Interaction Annotations

References - curated

References - uncurated

Genomics

Comparative Map Data

Position Markers

miRNA Target Status

Expression

Sequence

Nucleotide Sequences

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	copy number loss	See cases [RCV000133831]	Chr14:99831655..106855263 [GRCh38] Chr14:100297992..107263478 [GRCh37] Chr14:99367745..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
NM_001362.3(DIO3):c.574G>A (p.Asp192Asn)	single nucleotide variant	Malignant melanoma [RCV000062706]	Chr14:101562070 [GRCh38] Chr14:102028407 [GRCh37] Chr14:101098160 [NCBI36] Chr14:14q32.31	not provided
NM_001362.3(DIO3):c.536C>T (p.Ala179Val)	single nucleotide variant	Malignant melanoma [RCV000070424]	Chr14:101562032 [GRCh38] Chr14:102028369 [GRCh37] Chr14:101098122 [NCBI36] Chr14:14q32.31	not provided
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	copy number gain	See cases [RCV000134000]	Chr14:73655772..106879298 [GRCh38] Chr14:74122475..107287505 [GRCh37] Chr14:73192228..106358550 [NCBI36] Chr14:14q24.3-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	copy number gain	See cases [RCV000135400]	Chr14:97638520..106855263 [GRCh38] Chr14:98104857..107263478 [GRCh37] Chr14:97174610..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	copy number gain	See cases [RCV000135875]	Chr14:99448012..106850609 [GRCh38] Chr14:99914349..107258824 [GRCh37] Chr14:98984102..106329869 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	copy number gain	See cases [RCV000135543]	Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	copy number gain	See cases [RCV000135410]	Chr14:100309382..105987610 [GRCh38] Chr14:100775719..106453697 [GRCh37] Chr14:99845472..105524742 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	copy number gain	See cases [RCV000135896]	Chr14:92540983..104863658 [GRCh38] Chr14:93007328..105329995 [GRCh37] Chr14:92077081..104401040 [NCBI36] Chr14:14q32.12-32.33	pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	copy number loss	See cases [RCV000136032]	Chr14:95524407..106879501 [GRCh38] Chr14:95990744..107287708 [GRCh37] Chr14:95060497..106358753 [NCBI36] Chr14:14q32.13-32.33	pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	copy number gain	See cases [RCV000138230]	Chr14:77222795..106879298 [GRCh38] Chr14:77689138..107287505 [GRCh37] Chr14:76758891..106358550 [NCBI36] Chr14:14q24.3-32.33	pathogenic
GRCh38/hg38 14q32.2-32.31(chr14:100262836-102500697)x1	copy number loss	See cases [RCV000139723]	Chr14:100262836..102500697 [GRCh38] Chr14:100729173..102967034 [GRCh37] Chr14:99798926..102036787 [NCBI36] Chr14:14q32.2-32.31	pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	copy number gain	See cases [RCV000143373]	Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	copy number loss	See cases [RCV000143662]	Chr14:100582059..106877229 [GRCh38] Chr14:101048396..107285437 [GRCh37] Chr14:100118149..106356482 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]\|See cases [RCV000051553]	Chr14:100590353..106855264 [GRCh38] Chr14:101056690..107263479 [GRCh37] Chr14:100126443..106334524 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050696]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050696]\|See cases [RCV000050696]	Chr14:97938637..106855263 [GRCh38] Chr14:98404974..107263478 [GRCh37] Chr14:97474727..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050938]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050938]\|See cases [RCV000050938]	Chr14:100309382..106855263 [GRCh38] Chr14:100775719..107263478 [GRCh37] Chr14:99845472..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	copy number loss	Abnormal facial shape [RCV000051113]\|See cases [RCV000051113]	Chr14:100808300..106855263 [GRCh38] Chr14:101274637..107263478 [GRCh37] Chr14:100344390..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052294]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052294]\|See cases [RCV000052294]	Chr14:83912345..106855405 [GRCh38] Chr14:84378689..107263620 [GRCh37] Chr14:83448442..106334665 [NCBI36] Chr14:14q31.2-32.33	pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052295]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052295]\|See cases [RCV000052295]	Chr14:86094030..106832642 [GRCh38] Chr14:86560374..107240869 [GRCh37] Chr14:85630127..106311914 [NCBI36] Chr14:14q31.3-32.33	pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	copy number gain	Laryngeal cleft [RCV000052296]\|See cases [RCV000052296]	Chr14:91455861..106832642 [GRCh38] Chr14:91922205..107240869 [GRCh37] Chr14:90991958..106311914 [NCBI36] Chr14:14q32.12-32.33	pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]\|See cases [RCV000052298]	Chr14:94628219..106451054 [GRCh38] Chr14:95094556..106906960 [GRCh37] Chr14:94164309..105978005 [NCBI36] Chr14:14q32.13-32.33	pathogenic
GRCh38/hg38 14q32.31(chr14:101534151-101561708)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052091]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052091]\|See cases [RCV000052091]	Chr14:101534151..101561708 [GRCh38] Chr14:102000488..102028045 [GRCh37] Chr14:101070241..101097798 [NCBI36] Chr14:14q32.31	uncertain significance

Additional Information

External Database Links

More on MIR1247
	Alliance Gene
	NCBI Gene
	Ensembl Gene
	JBrowse: hg19 hg38
	HGNC Report
	NCBI Genome Data Viewer

RGD Object Information
RGD ID:	2312974
Created:	2009-09-04
Species:	Homo sapiens
Last Modified:	2020-03-24
Status:	ACTIVE

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Annotations - CTD