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Gene: MAPK10-AS1 (MAPK10 antisense RNA 1) Homo sapiens

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Symbol:

MAPK10-AS1

Name:

MAPK10 antisense RNA 1

RGD ID:

14700822

HGNC Page

HGNC:40359

Description:

ASSOCIATED WITH Epileptic encephalopathy

Type:

ncrna (Ensembl: lncRNA)

RefSeq Status:

VALIDATED

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	4	86,119,806 - 86,219,926 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	86,117,912 - 86,219,926 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	87,040,959 - 87,141,079 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Cytogenetic Map	4	q21.3	NCBI
HuRef	4	82,784,984 - 82,885,464 (+)	NCBI		HuRef
CHM1_1	4	87,017,697 - 87,117,602 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	4	89,449,250 - 89,549,405 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
MAPK10-AS1	Human	Epileptic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Epileptic encephalopathy	ClinVar

PMID:12477932	PMID:25353672

Variants in MAPK10-AS1
9 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	copy number gain	See cases [RCV000051772]	Chr4:51831622..97505618 [GRCh38] Chr4:52697788..98426769 [GRCh37] Chr4:52392545..98645792 [NCBI36] Chr4:4q12-22.3	pathogenic
NM_138982.4(MAPK10):c.24C>T (p.Tyr8=)	single nucleotide variant	not provided [RCV000976170]	Chr4:86194378 [GRCh38] Chr4:87115531 [GRCh37] Chr4:4q21.3	likely benign
GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	copy number loss	See cases [RCV000053297]	Chr4:79575748..92412449 [GRCh38] Chr4:80496902..93333600 [GRCh37] Chr4:80715926..93552623 [NCBI36] Chr4:4q21.21-22.1	pathogenic
GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	copy number loss	See cases [RCV000137269]	Chr4:80427023..100855441 [GRCh38] Chr4:81348177..101776598 [GRCh37] Chr4:81567201..101995621 [NCBI36] Chr4:4q21.21-24	pathogenic
NM_138982.4(MAPK10):c.21C>A (p.Tyr7Ter)	single nucleotide variant	not specified [RCV000193982]	Chr4:86194381 [GRCh38] Chr4:87115534 [GRCh37] Chr4:4q21.3	uncertain significance
NM_138982.4(MAPK10):c.236+7G>A	single nucleotide variant	Epileptic encephalopathy [RCV000312210]	Chr4:86159291 [GRCh38] Chr4:87080444 [GRCh37] Chr4:4q21.3	uncertain significance
GRCh38/hg38 4q21.23-21.3(chr4:85972086-87031375)x1	copy number loss	See cases [RCV000141421]	Chr4:85972086..87031375 [GRCh38] Chr4:86893239..87952527 [GRCh37] Chr4:87112263..88171551 [NCBI36] Chr4:4q21.23-21.3	pathogenic
GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	copy number loss	See cases [RCV000134977]	Chr4:80879777..94809447 [GRCh38] Chr4:81800931..95730598 [GRCh37] Chr4:82019955..95949621 [NCBI36] Chr4:4q21.21-22.3	pathogenic
GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	copy number loss	See cases [RCV000140416]	Chr4:80043949..86948317 [GRCh38] Chr4:80965103..87869469 [GRCh37] Chr4:81184127..88088493 [NCBI36] Chr4:4q21.21-21.3	pathogenic
GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	copy number loss	See cases [RCV000141424]	Chr4:85449365..93973194 [GRCh38] Chr4:86370518..94894345 [GRCh37] Chr4:86589542..95113368 [NCBI36] Chr4:4q21.23-22.2	pathogenic
GRCh38/hg38 4q21.23-22.1(chr4:84329551-87679204)x1	copy number loss	See cases [RCV000136623]	Chr4:84329551..87679204 [GRCh38] Chr4:85250704..88600356 [GRCh37] Chr4:85469728..88819380 [NCBI36] Chr4:4q21.23-22.1	pathogenic
GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	copy number loss	Chromosome 4q21 deletion syndrome [RCV003327709]	Chr4:79123548..99457773 [GRCh38] Chr4:4q21.21-23	pathogenic
NM_138982.4(MAPK10):c.95A>T (p.Tyr32Phe)	single nucleotide variant	not specified [RCV004408588]	Chr4:86159439 [GRCh38] Chr4:87080592 [GRCh37] Chr4:4q21.3	uncertain significance
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	copy number gain	See cases [RCV000143458]	Chr4:68686088..95294456 [GRCh38] Chr4:69551806..96215607 [GRCh37] Chr4:69234401..96434630 [NCBI36] Chr4:4q13.2-22.3	pathogenic
NM_138982.4(MAPK10):c.121A>C (p.Lys41Gln)	single nucleotide variant	not specified [RCV004408584]	Chr4:86159413 [GRCh38] Chr4:87080566 [GRCh37] Chr4:4q21.3	uncertain significance
NM_138982.4(MAPK10):c.20A>G (p.Tyr7Cys)	single nucleotide variant	not specified [RCV004408586]	Chr4:86194382 [GRCh38] Chr4:87115535 [GRCh37] Chr4:4q21.3	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	97
Count of miRNA genes:	92
Interacting mature miRNAs:	93
Transcripts:	ENST00000509322, ENST00000511917
Prediction methods:	Miranda, Rnahybrid
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407368561	GWAS1017537_H	mammographic density measurement QTL GWAS1017537 (human)		0.000008	mammographic density measurement		4	86211618	86211619	Human
597437716	GWAS1533790_H	nucleotide measurement QTL GWAS1533790 (human)		0.000005	nucleotide metabolism trait (VT:0003806)		4	86198071	86198072	Human
597342883	GWAS1438957_H	serum alanine aminotransferase measurement QTL GWAS1438957 (human)		2e-10	serum alanine aminotransferase measurement	serum alanine aminotransferase activity level (CMO:0000575)	4	86181102	86181103	Human
597161465	GWAS1257539_H	gut microbiome measurement QTL GWAS1257539 (human)		3e-08	gut microbiome measurement		4	86155843	86155844	Human
597161928	GWAS1258002_H	carbohydrate measurement QTL GWAS1258002 (human)		0.00001	carbohydrate measurement		4	86186755	86186756	Human

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
618	1194	1260	1350	1802	770	1007	1	101	372	52	845	2857	3018	17	1639	445	1109	804	54


RefSeq Transcripts	NG_013325	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_110879	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC104059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC104827	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC108054	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC038746	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OA988212	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000509322

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	86,117,912 - 86,127,688 (+)	Ensembl

Ensembl Acc Id:

ENST00000511917

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	86,119,714 - 86,219,926 (+)	Ensembl

Ensembl Acc Id:

ENST00000757109

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	86,119,730 - 86,133,322 (+)	Ensembl

Ensembl Acc Id:

ENST00000757110

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	86,119,755 - 86,127,817 (+)	Ensembl

RefSeq Acc Id:

NR_110879

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	86,119,806 - 86,219,926 (+)	NCBI
T2T-CHM13v2.0	4	89,449,250 - 89,549,405 (+)	NCBI

Sequence:

show sequence

ATAGGTAGCCTTCATTCAATGACTGATGAACATGTGGTTATAAAAGCCTGGCCACTTCACCCCAATTCAGGACAGCTGGTGTTGGCCCCCAAAATACTTCCTAATAAATCTCCTGCATGAAATCACCA
TCTCAAAGTGTACCTTCTGGAGAATACAGTGTTTGGAAAGCAGTAAGTCATGGCTAAATACAGCAATATGCTCTGGAGTTCACTTGGATACTTCCCTAGGCAAAAGGCAAGTCCAATTATGGATAAAC
ATGGCTAGACTACGAGCTCAACATCAAGAAAAGCCATTTCACCTATGTAACCAACTAACCTAGATGACCAAGCCTAATTATAGAGTTTTCATTCAAAACCACTTTGTGCTTGGTAGACACTAAATTGA
AGCAAGGCAGCAAGTGGGTCTCACAGCCAGTCCCTCAAAGACGTATCAAAAGCAGGAACTTCTTAAAACACTAGAAACTGAACTAGTACTTTACAACCCATCAGCAAACTAAAGACGGGGAAGACCAC
ACAAAGATTATTCACCTTAATCAAAAACATGGGACCAGCTCAGCAGCTCATCACCACAGAAAATAGATGAATGGAAAGAAAATGGCTGCTCTAGACACGAGGCAATTTCTGGAAATCAGGATGGTGAC
ATTGGAGAAGAAACTGAAGATTCTTGGAGAAATATTAACTTCATCTCAGTAAAATGGAAGGCTTGCCATGTTTCTCCTGTGGCTTTGACTACTCCTGGCACATTGTACCTGCAACTTCCCTGCCTGGC
CCTCACCCTGAGGCACAAAGACTCCAGTTTGAAAAGTGTATAATATCAATATTCTTACATTCAAGTTGCTTTAATATCTGTTAACATAAACCAAAGCAAGTTATAGTTATGGGCTGGTAAGAAGAGAA
CAACCATCTATTGAAAACCGTCTACAGATAAGTGCTTTGTATAATAAATTATTTGCTTTAAAAAAAAAAAAAAAAAAAAAAA

hide sequence

Database	Acc Id	Source(s)
COSMIC	MAPK10-AS1	COSMIC
Ensembl Genes	ENSG00000250062	Ensembl, ENTREZGENE
Ensembl Transcript	ENST00000511917	ENTREZGENE
GTEx	ENSG00000250062	GTEx
HGNC ID	HGNC:40359	ENTREZGENE
Human Proteome Map	MAPK10-AS1	Human Proteome Map
NCBI Gene	MAPK10-AS1	ENTREZGENE
RNAcentral	URS0000258187	RNACentral
	URS00005943FB	RNACentral
	URS000075C0BC	RNACentral

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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Imported Human Phenotype Annotations - ClinVar