ETV5-AS1 (ETV5 antisense RNA 1) - Rat Genome Database

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Gene: ETV5-AS1 (ETV5 antisense RNA 1) Homo sapiens
Analyze
Symbol: ETV5-AS1
Name: ETV5 antisense RNA 1
RGD ID: 6481401
HGNC Page HGNC:40222
Description: ASSOCIATED WITH myoepithelioma
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383186,079,170 - 186,080,947 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3186,079,170 - 186,080,947 (+)EnsemblGRCh38hg38GRCh38
Cytogenetic Map3q27.2NCBI
T2T-CHM13v2.03188,894,991 - 188,896,768 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
myoepithelioma  (IAGP)

References

Genomics

Variants

.
Variants in ETV5-AS1
8 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004454.3(ETV5):c.362+107T>C single nucleotide variant not provided [RCV001721742] Chr3:186080939 [GRCh38]
Chr3:185798728 [GRCh37]
Chr3:3q27.2		 benign
NM_004454.3(ETV5):c.363-132G>A single nucleotide variant not provided [RCV001677200] Chr3:186080236 [GRCh38]
Chr3:185798025 [GRCh37]
Chr3:3q27.2		 benign
GRCh38/hg38 3q27.2-27.3(chr3:186009008-186554890)x1 copy number loss See cases [RCV000137273] Chr3:186009008..186554890 [GRCh38]
Chr3:185726797..186272679 [GRCh37]
Chr3:187209491..187755373 [NCBI36]
Chr3:3q27.2-27.3		 uncertain significance
GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3 copy number gain See cases [RCV000139009] Chr3:184843627..187461008 [GRCh38]
Chr3:184561415..187178796 [GRCh37]
Chr3:186044109..188661490 [NCBI36]
Chr3:3q27.2-27.3		 pathogenic
NM_004454.3(ETV5):c.455C>A (p.Pro152Gln) single nucleotide variant not specified [RCV004325720] Chr3:186080012 [GRCh38]
Chr3:185797801 [GRCh37]
Chr3:3q27.2		 uncertain significance
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic|likely benign
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28		 likely pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29		 pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29		 pathogenic
GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1 copy number loss See cases [RCV000139917] Chr3:184010704..186288926 [GRCh38]
Chr3:183728492..186006715 [GRCh37]
Chr3:185211186..187489409 [NCBI36]
Chr3:3q27.1-27.2		 likely pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1 copy number loss See cases [RCV000142019] Chr3:181138664..192512023 [GRCh38]
Chr3:180856452..192229812 [GRCh37]
Chr3:182339146..193712506 [NCBI36]
Chr3:3q26.33-28		 pathogenic
NM_004454.3(ETV5):c.445C>G (p.Leu149Val) single nucleotide variant not provided [RCV000962064] Chr3:186080022 [GRCh38]
Chr3:185797811 [GRCh37]
Chr3:3q27.2		 benign
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 copy number loss See cases [RCV000051608] Chr3:185485849..198110178 [GRCh38]
Chr3:185203637..197837049 [GRCh37]
Chr3:186686331..199321446 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1 copy number loss See cases [RCV000142154] Chr3:182319764..186443121 [GRCh38]
Chr3:182037552..186160910 [GRCh37]
Chr3:183520246..187643604 [NCBI36]
Chr3:3q26.33-27.3		 likely pathogenic
NM_004454.3(ETV5):c.370G>A (p.Asp124Asn) single nucleotide variant not specified [RCV004275312] Chr3:186080097 [GRCh38]
Chr3:185797886 [GRCh37]
Chr3:3q27.2		 uncertain significance
NM_004454.3(ETV5):c.536A>C (p.His179Pro) single nucleotide variant Myoepithelial tumor [RCV002463939] Chr3:186079931 [GRCh38]
Chr3:185797720 [GRCh37]
Chr3:3q27.2		 pathogenic
NM_004454.3(ETV5):c.386C>G (p.Ser129Cys) single nucleotide variant not specified [RCV004383178] Chr3:186080081 [GRCh38]
Chr3:185797870 [GRCh37]
Chr3:3q27.2		 uncertain significance
NM_004454.3(ETV5):c.631C>G (p.Gln211Glu) single nucleotide variant not specified [RCV004277647] Chr3:186079836 [GRCh38]
Chr3:185797625 [GRCh37]
Chr3:3q27.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:184
Count of miRNA genes:180
Interacting mature miRNAs:184
Transcripts:ENST00000453370
Prediction methods:Miranda, Rnahybrid, Targetscan
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.


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 sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 2 3 1
Low 555 686 1036 159 359 72 1952 241 860 69 485 952 87 599 1070 2
Below cutoff 1491 1306 461 268 474 203 1783 1217 1868 184 680 478 70 548 1211

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000453370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3186,079,170 - 186,080,947 (+)Ensembl
RefSeq Acc Id: NR_046594
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,079,170 - 186,080,947 (+)NCBI
T2T-CHM13v2.03188,894,991 - 188,896,768 (+)NCBI

Additional Information

Database Acc Id Source(s)
COSMIC ETV5-AS1 COSMIC
Ensembl Genes ENSG00000234197 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000453370 ENTREZGENE
GTEx ENSG00000234197 GTEx
HGNC ID HGNC:40222 ENTREZGENE
Human Proteome Map ETV5-AS1 Human Proteome Map
NCBI Gene ETV5-AS1 ENTREZGENE
RNAcentral URS00001CB8E8 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-08-21 ETV5-AS1  ETV5 antisense RNA 1  ETV5-AS1  ETV5 antisense RNA 1 (non-protein coding)  Symbol and/or name change 5135510 APPROVED