PEG3-AS1 (PEG3 antisense RNA 1) - Rat Genome Database

Name: PEG3-AS1
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: PEG3-AS1 (PEG3 antisense RNA 1) Homo sapiens

Analyze

Symbol:

PEG3-AS1

Name:

PEG3 antisense RNA 1

RGD ID:

2301272

HGNC Page

HGNC:35127

Description:

This gene is located in the paternally expressed gene 3 (PEG3) imprinted region on chromosome 19. The corresponding transcript in mouse is imprinted and regulates expression of the mouse Peg3 gene. [provided by RefSeq, Sep 2016]

Type:

ncrna

RefSeq Status:

VALIDATED

Previously known as:

APEG3; NCRNA00155; PEG3-AS; PEG3AS

RGD Orthologs

Mouse

Alliance Genes

More Info

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	19	56,812,480 - 56,813,793 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	19	57,323,848 - 57,325,161 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Celera	19	54,365,951 - 54,367,264 (+)	NCBI		Celera
Cytogenetic Map	19	q13.43	NCBI
HuRef	19	53,633,351 - 53,634,664 (+)	NCBI		HuRef
CHM1_1	19	57,317,419 - 57,318,731 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	59,907,565 - 59,908,878 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

4,4'-sulfonyldiphenol (ISO)

bisphenol A (ISO)

bisphenol F (ISO)

nickel atom (EXP)

valproic acid (EXP)

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:15950772	PMID:18166281	PMID:24582979	PMID:25317109

Genomics

Comparative Map Data

PEG3-AS1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	56,812,480 - 56,813,793 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	19	57,323,848 - 57,325,161 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Celera	19	54,365,951 - 54,367,264 (+)	NCBI		Celera
Cytogenetic Map	19	q13.43	NCBI
HuRef	19	53,633,351 - 53,634,664 (+)	NCBI		HuRef
CHM1_1	19	57,317,419 - 57,318,731 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	59,907,565 - 59,908,878 (+)	NCBI		T2T-CHM13v2.0

Peg3os
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	6,709,759 - 6,710,623 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm38	7	6,706,760 - 6,707,624 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
MGSCv37	7	6,659,471 - 6,660,335 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
Celera	7	6,435,303 - 6,436,167 (+)	NCBI		Celera
Cytogenetic Map	7	A1	NCBI
cM Map	7	3.89	NCBI

Variants

Variants in PEG3-AS1
4 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_006210.2(PEG3):c.3333C>T (p.Asp1111=)	single nucleotide variant	Malignant melanoma [RCV000072399]	Chr19:56815109 [GRCh38] Chr19:57326477 [GRCh37] Chr19:62018289 [NCBI36] Chr19:19q13.43	not provided
NM_006210.2(PEG3):c.702C>T (p.Leu234=)	single nucleotide variant	Malignant melanoma [RCV000072400]	Chr19:56818670 [GRCh38] Chr19:57330038 [GRCh37] Chr19:62021850 [NCBI36] Chr19:19q13.43	not provided
NM_006210.2(PEG3):c.985G>A (p.Gly329Arg)	single nucleotide variant	Malignant melanoma [RCV000063653]	Chr19:56817457 [GRCh38] Chr19:57328825 [GRCh37] Chr19:62020637 [NCBI36] Chr19:19q13.43	not provided
NM_006210.2(PEG3):c.2162C>T (p.Ser721Phe)	single nucleotide variant	Malignant melanoma [RCV000063652]	Chr19:56816280 [GRCh38] Chr19:57327648 [GRCh37] Chr19:62019460 [NCBI36] Chr19:19q13.43	not provided
GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	copy number gain	See cases [RCV000134174]	Chr19:52612432..58581203 [GRCh38] Chr19:53115685..59092570 [GRCh37] Chr19:57807497..63784382 [NCBI36] Chr19:19q13.41-13.43	pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	copy number gain	See cases [RCV000134139]	Chr19:52955056..58581203 [GRCh38] Chr19:53458309..59092570 [GRCh37] Chr19:58150121..63784382 [NCBI36] Chr19:19q13.41-13.43	pathogenic
GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1	copy number loss	See cases [RCV000135287]	Chr19:55550939..57031576 [GRCh38] Chr19:56062305..57542944 [GRCh37] Chr19:60754117..62234756 [NCBI36] Chr19:19q13.42-13.43	likely pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	copy number gain	See cases [RCV000135843]	Chr19:50152520..58581203 [GRCh38] Chr19:50655777..59092570 [GRCh37] Chr19:55347589..63784382 [NCBI36] Chr19:19q13.33-13.43	pathogenic
GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	copy number gain	See cases [RCV000138139]	Chr19:55048514..56972458 [GRCh38] Chr19:55595687..57483826 [GRCh37] Chr19:60251694..62175638 [NCBI36] Chr19:19q13.42-13.43	likely pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	copy number gain	See cases [RCV000142008]	Chr19:52143873..58445521 [GRCh38] Chr19:52647126..58956888 [GRCh37] Chr19:57338938..63648700 [NCBI36] Chr19:19q13.41-13.43	pathogenic
GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	copy number gain	See cases [RCV000141900]	Chr19:56353449..58445521 [GRCh38] Chr19:56864818..58956888 [GRCh37] Chr19:61556630..63648700 [NCBI36] Chr19:19q13.43	uncertain significance
GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	copy number gain	See cases [RCV000142245]	Chr19:55037146..56982033 [GRCh38] Chr19:55548514..57493401 [GRCh37] Chr19:60240326..62185213 [NCBI36] Chr19:19q13.42-13.43	uncertain significance
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	copy number gain	See cases [RCV000050883]	Chr19:50191219..58535818 [GRCh38] Chr19:50694476..59047185 [GRCh37] Chr19:55386288..63738997 [NCBI36] Chr19:19q13.33-13.43	pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	copy number gain	See cases [RCV000052925]	Chr19:49907832..58557889 [GRCh38] Chr19:50411089..59069256 [GRCh37] Chr19:55102901..63761068 [NCBI36] Chr19:19q13.33-13.43	pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	copy number gain	See cases [RCV000052914]	Chr19:47908540..58539965 [GRCh38] Chr19:48411797..59051332 [GRCh37] Chr19:53103609..63743144 [NCBI36] Chr19:19q13.33-13.43	pathogenic
NM_006210.3(PEG3):c.4701C>T (p.Asp1567=)	single nucleotide variant	not provided [RCV000889287]	Chr19:56813741 [GRCh38] Chr19:57325109 [GRCh37] Chr19:19q13.43	benign
NM_006210.3(PEG3):c.4738G>A (p.Ala1580Thr)	single nucleotide variant	Inborn genetic diseases [RCV002689393]	Chr19:56813704 [GRCh38] Chr19:57325072 [GRCh37] Chr19:19q13.43	uncertain significance
NM_006210.3(PEG3):c.4748A>G (p.Gln1583Arg)	single nucleotide variant	Inborn genetic diseases [RCV002802401]	Chr19:56813694 [GRCh38] Chr19:57325062 [GRCh37] Chr19:19q13.43	uncertain significance
NM_006210.3(PEG3):c.4676C>G (p.Ala1559Gly)	single nucleotide variant	Inborn genetic diseases [RCV003258335]	Chr19:56813766 [GRCh38] Chr19:57325134 [GRCh37] Chr19:19q13.43	uncertain significance
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	copy number gain	See cases [RCV000052915]	Chr19:47929575..58572206 [GRCh38] Chr19:48432832..59083573 [GRCh37] Chr19:53124644..63775385 [NCBI36] Chr19:19q13.33-13.43	pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	copy number gain	See cases [RCV000052926]	Chr19:51141518..58539965 [GRCh38] Chr19:51644775..59051332 [GRCh37] Chr19:56336587..63743144 [NCBI36] Chr19:19q13.41-13.43	pathogenic
GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	copy number gain	See cases [RCV000052927]	Chr19:56363208..58581203 [GRCh38] Chr19:56874577..59092570 [GRCh37] Chr19:61566389..63784382 [NCBI36] Chr19:19q13.43	pathogenic

Markers in Region

SHGC-32171

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	57,323,516 - 57,323,644	UniSTS	GRCh37
Build 36	19	62,015,328 - 62,015,456	RGD	NCBI36
Celera	19	54,365,619 - 54,365,747	RGD
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
HuRef	19	53,633,019 - 53,633,147	UniSTS
TNG Radiation Hybrid Map	19	22405.0	UniSTS
Stanford-G3 RH Map	19	2856.0	UniSTS
Whitehead-RH Map	19	370.0	UniSTS
NCBI RH Map	19	596.6	UniSTS
GeneMap99-G3 RH Map	19	2867.0	UniSTS

STS-W93046

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	57,323,905 - 57,324,056	UniSTS	GRCh37
Build 36	19	62,015,717 - 62,015,868	RGD	NCBI36
Celera	19	54,366,008 - 54,366,159	RGD
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
GeneMap99-GB4 RH Map	19	284.08	UniSTS

D19S699E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	57,325,121 - 57,325,220	UniSTS	GRCh37
Build 36	19	62,016,933 - 62,017,032	RGD	NCBI36
Celera	19	54,367,224 - 54,367,323	RGD
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
HuRef	19	53,634,624 - 53,634,723	UniSTS

RH18153

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	57,323,516 - 57,323,785	UniSTS	GRCh37
Build 36	19	62,015,328 - 62,015,597	RGD	NCBI36
Celera	19	54,365,619 - 54,365,888	RGD
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
HuRef	19	53,633,019 - 53,633,288	UniSTS

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_012989	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_023847	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC006115	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

NR_023847

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,812,480 - 56,813,793 (+)	NCBI
GRCh37	19	57,323,848 - 57,325,161 (+)	RGD
Celera	19	54,365,951 - 54,367,264 (+)	RGD
HuRef	19	53,633,351 - 53,634,664 (+)	ENTREZGENE
CHM1_1	19	57,317,419 - 57,318,731 (+)	NCBI
T2T-CHM13v2.0	19	59,907,565 - 59,908,878 (+)	NCBI

Sequence:

show sequence

ATTAAGTTAGCGATAGAAAGATCTAAGGATACTAGCTCCTGGGCACCTAGGGTGCAAACTGACT
TGTGGCAGCATAAGCTGATGCTGCACAGGGGACCCAAGCCATGTTGCTACTTGTCACTTAAGGC
AGGAAGCGCACAAAGGAAGTGATGAAAGGTTATTAGCCTGCAACATTATTTACAGCATGAGAGC
CTCTCCTACGGTTCTCAACCTTCATTAGGCACTACTGTGATCTAGTGATGGTTGTAACCCATTC
TTTAAAGGCAAAGATGTAAGATTTACAGGGAAAAGCTTCGGGTTTTATCAATTCACTATCATCA
AACACATATTGAGTTGGTTAAAAAAAAAAAAAACCCAGAACACAAATGTGTAATATTTTTGCAT
GAGAACCACTTCAACAAACATAACATGTGGCAACCAATCAATCTGGGTCACAAAAAGCCAATCC
GTATATTGTAAAGCCTTACACAGTATTAGGTTCCAAAGTGTTGGCGCAGATGAAATGGCTGCAG
AAAGAAGCTAAAGTACTTATCTTTTCAAACAGTAAGGAGTAAAAGCCATGTTATCTATCATGCC
TACAGCTTCACAAGACTATTTAAGGGTAAGAAACAAAACAATTACTCAAAAAGATATTGACAGG
GTTCAAATAATGCACAATAAATCTTTCTCAGGATCTAAGACACTTAAAAATATAATCAAATTTG
TTGCTCTCTTCCTCCTCCAAAAAAAAAAAAAATTCAAAGAATACCAGGTAAGGTACCTCTGCAG
AGTAAACTGTAACTGTATATCATATAAATCCAAATATATGTGATCACTGTTCTGTCATAATTTG
CTATTTTATATACACCTCATGAAACACTATATATACGTTACACAAGTGTCATTTACAGTTGATT
TGGGCAAACTCTGTAGTCTGGAATACTCATAGGGTTTTCTCAATCTGATTACTTGGAAAGGTAA
GATGTGTGCTATGGCTTTCCCACATGCAGACACTGACATCTGAAGGGGAAAGCTTAAGACTGTG
GAATCTGCACATTCGGTCTCTTTTCAATCTGAGTTTAGAGATGTTAAGTCAGGTGTGTAACACA
CTAAGGTTAAGTCTCCTACTGACATTATCATGGATTGGTTTGGATTCTCTGTGGTTTGGTAAGG
GTCAAGTCCTAGGTGAAGGTTTTCTAACCTTTACCCCATGCCCTCAGCCAGTGTGGGTATTCTG
GTGTCTGGCGAGGGACAGGCGGTCATTGAAGAGCTGCCCACAGACGTCACATTTGAAGTACTTC
TCATCAGCTTGATTGGCACCACCTGTGCTGGTGC

hide sequence

Additional Information

External Database Links

Database	Acc Id	Source(s)
COSMIC	PEG3-AS1	COSMIC
GTEx	PEG3-AS1	GTEx
HGNC ID	HGNC:35127	ENTREZGENE
Human Proteome Map	PEG3-AS1	Human Proteome Map
NCBI Gene	100169890	ENTREZGENE
PharmGKB	PA164724443	PharmGKB
RNAcentral	URS000075DAE7	RNACentral

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2012-08-21	PEG3-AS1	PEG3 antisense RNA 1	PEG3-AS1	PEG3 antisense RNA 1 (non-protein coding)	Symbol and/or name change	5135510	APPROVED
2011-07-27	PEG3-AS1	PEG3 antisense RNA 1 (non-protein coding)	PEG3AS	PEG3 antisense RNA (non-protein coding)	Symbol and/or name change	5135510	APPROVED

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)

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