EVX1-AS (EVX1 antisense RNA) - Rat Genome Database

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Gene: EVX1-AS (EVX1 antisense RNA) Homo sapiens
Analyze
Symbol: EVX1-AS
Name: EVX1 antisense RNA
RGD ID: 7243076
HGNC Page HGNC:40223
Description: Predicted to enable chromatin binding activity. Predicted to be part of histone methyltransferase complex.
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: EVX1-AS1; EVX1AS
RGD Orthologs
Mouse
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38727,241,429 - 27,247,229 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl727,241,429 - 27,247,229 (-)EnsemblGRCh38hg38GRCh38
GRCh37727,281,048 - 27,286,848 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map7p15.2NCBI
CHM1_1727,280,775 - 27,286,575 (-)NCBICHM1_1
T2T-CHM13v2.0727,377,415 - 27,383,215 (-)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
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References
Additional References at PubMed
PMID:9847074   PMID:16344560  


Genomics

Comparative Map Data
EVX1-AS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38727,241,429 - 27,247,229 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl727,241,429 - 27,247,229 (-)EnsemblGRCh38hg38GRCh38
GRCh37727,281,048 - 27,286,848 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map7p15.2NCBI
CHM1_1727,280,775 - 27,286,575 (-)NCBICHM1_1
T2T-CHM13v2.0727,377,415 - 27,383,215 (-)NCBIT2T-CHM13v2.0
Evx1os
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39652,285,374 - 52,291,817 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl652,285,374 - 52,291,817 (-)EnsemblGRCm39 Ensembl
GRCm38652,308,389 - 52,314,832 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl652,308,389 - 52,314,832 (-)EnsemblGRCm38mm10GRCm38
MGSCv37652,258,383 - 52,264,826 (-)NCBIGRCm37MGSCv37mm9NCBIm37
Celera652,829,791 - 52,836,234 (-)NCBICelera
Cytogenetic Map6B3NCBI
cM Map625.44NCBI

Variants

.
Variants in EVX1-AS
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001989.4(EVX1):c.835_840dupCTGCCC (p.Pro280_Tyr281insLeuPro) duplication Malignant melanoma [RCV000061624] Chr7:27246036..27246041 [GRCh38]
Chr7:27285655..27285660 [GRCh37]
Chr7:27252185..27252186 [NCBI36]
Chr7:7p15.2		 not provided
NM_001989.4(EVX1):c.441G>A (p.Glu147=) single nucleotide variant Malignant melanoma [RCV000067836] Chr7:27245061 [GRCh38]
Chr7:27284680 [GRCh37]
Chr7:27251205 [NCBI36]
Chr7:7p15.2		 not provided
NM_001989.4(EVX1):c.442G>A (p.Ala148Thr) single nucleotide variant Malignant melanoma [RCV000067837] Chr7:27245062 [GRCh38]
Chr7:27284681 [GRCh37]
Chr7:27251206 [NCBI36]
Chr7:7p15.2		 not provided
GRCh38/hg38 7p15.2(chr7:27107301-27314586)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053436]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053436]|See cases [RCV000053436] Chr7:27107301..27314586 [GRCh38]
Chr7:27146920..27354205 [GRCh37]
Chr7:27113445..27320730 [NCBI36]
Chr7:7p15.2		 uncertain significance
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1 copy number loss See cases [RCV000136775] Chr7:20561456..32005143 [GRCh38]
Chr7:20601079..32044755 [GRCh37]
Chr7:20567604..32011280 [NCBI36]
Chr7:7p21.1-14.3		 pathogenic
GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1 copy number loss See cases [RCV000134333] Chr7:20210912..27849400 [GRCh38]
Chr7:20250535..27889019 [GRCh37]
Chr7:20217060..27855544 [NCBI36]
Chr7:7p21.1-15.2		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p15.2-14.3(chr7:25511691-30421133)x1 copy number loss See cases [RCV000052310] Chr7:25511691..30421133 [GRCh38]
Chr7:25551310..30460749 [GRCh37]
Chr7:25517835..30427274 [NCBI36]
Chr7:7p15.2-14.3		 pathogenic
GRCh38/hg38 7p15.2(chr7:27154807-27422335)x1 copy number loss See cases [RCV000052313] Chr7:27154807..27422335 [GRCh38]
Chr7:27194426..27461954 [GRCh37]
Chr7:27160951..27428479 [NCBI36]
Chr7:7p15.2		 pathogenic
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
NM_001989.5(EVX1):c.914G>A (p.Arg305His) single nucleotide variant Inborn genetic diseases [RCV003254328] Chr7:27246115 [GRCh38]
Chr7:27285734 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.870A>C (p.Ala290=) single nucleotide variant not provided [RCV000965037] Chr7:27246071 [GRCh38]
Chr7:27285690 [GRCh37]
Chr7:7p15.2		 benign
NM_001989.5(EVX1):c.1129C>G (p.Arg377Gly) single nucleotide variant Inborn genetic diseases [RCV002907076] Chr7:27246330 [GRCh38]
Chr7:27285949 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.491G>A (p.Gly164Asp) single nucleotide variant Inborn genetic diseases [RCV002785106] Chr7:27245111 [GRCh38]
Chr7:27284730 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.187G>A (p.Gly63Arg) single nucleotide variant Inborn genetic diseases [RCV002737843] Chr7:27243217 [GRCh38]
Chr7:27282836 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.400G>A (p.Gly134Arg) single nucleotide variant Inborn genetic diseases [RCV002884887] Chr7:27243430 [GRCh38]
Chr7:27283049 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.409G>A (p.Glu137Lys) single nucleotide variant Inborn genetic diseases [RCV002821991] Chr7:27243439 [GRCh38]
Chr7:27283058 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.329C>A (p.Pro110His) single nucleotide variant Inborn genetic diseases [RCV002764972] Chr7:27243359 [GRCh38]
Chr7:27282978 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.49G>T (p.Gly17Cys) single nucleotide variant Inborn genetic diseases [RCV002709659] Chr7:27243079 [GRCh38]
Chr7:27282698 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.824C>G (p.Ser275Trp) single nucleotide variant Inborn genetic diseases [RCV002830702] Chr7:27246025 [GRCh38]
Chr7:27285644 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.956G>A (p.Arg319Gln) single nucleotide variant Inborn genetic diseases [RCV002789495] Chr7:27246157 [GRCh38]
Chr7:27285776 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.1094C>T (p.Ala365Val) single nucleotide variant Inborn genetic diseases [RCV002803531] Chr7:27246295 [GRCh38]
Chr7:27285914 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.904G>T (p.Gly302Cys) single nucleotide variant Inborn genetic diseases [RCV002983943] Chr7:27246105 [GRCh38]
Chr7:27285724 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.91G>A (p.Val31Met) single nucleotide variant Inborn genetic diseases [RCV002787203] Chr7:27243121 [GRCh38]
Chr7:27282740 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.1103C>T (p.Ser368Leu) single nucleotide variant Inborn genetic diseases [RCV002878797] Chr7:27246304 [GRCh38]
Chr7:27285923 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.1043C>T (p.Ser348Phe) single nucleotide variant Inborn genetic diseases [RCV002940298] Chr7:27246244 [GRCh38]
Chr7:27285863 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.893C>T (p.Ser298Leu) single nucleotide variant Inborn genetic diseases [RCV002878337] Chr7:27246094 [GRCh38]
Chr7:27285713 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.21G>A (p.Met7Ile) single nucleotide variant Inborn genetic diseases [RCV002677771] Chr7:27243051 [GRCh38]
Chr7:27282670 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.932G>T (p.Arg311Leu) single nucleotide variant Inborn genetic diseases [RCV002723590] Chr7:27246133 [GRCh38]
Chr7:27285752 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.838C>T (p.Pro280Ser) single nucleotide variant Inborn genetic diseases [RCV002724940] Chr7:27246039 [GRCh38]
Chr7:27285658 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.188G>A (p.Gly63Glu) single nucleotide variant Inborn genetic diseases [RCV003213563] Chr7:27243218 [GRCh38]
Chr7:27282837 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.913C>A (p.Arg305Ser) single nucleotide variant Inborn genetic diseases [RCV003199461] Chr7:27246114 [GRCh38]
Chr7:27285733 [GRCh37]
Chr7:7p15.2		 uncertain significance
NM_001989.5(EVX1):c.21G>T (p.Met7Ile) single nucleotide variant Inborn genetic diseases [RCV003378456] Chr7:27243051 [GRCh38]
Chr7:27282670 [GRCh37]
Chr7:7p15.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:693
Count of miRNA genes:438
Interacting mature miRNAs:477
Transcripts:ENST00000517726, ENST00000519050, ENST00000519218
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.

Markers in Region
REN100951  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,282,191 - 27,282,415UniSTSGRCh37
Build 36727,248,716 - 27,248,940RGDNCBI36
Celera727,271,128 - 27,271,352RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,162,422 - 27,162,646UniSTS
CRA_TCAGchr7v2727,333,378 - 27,333,602UniSTS
REN100956  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,283,231 - 27,283,505UniSTSGRCh37
Build 36727,249,756 - 27,250,030RGDNCBI36
Celera727,272,168 - 27,272,442RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,163,462 - 27,163,736UniSTS
CRA_TCAGchr7v2727,334,418 - 27,334,692UniSTS


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
High
Medium 12 2 9 61
Low 73 3 105 10 6 11 36 16 28 731 13 1 2
Below cutoff 343 351 517 61 70 48 784 116 401 100 192 321 15 424 339

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000517726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl727,241,429 - 27,247,229 (-)Ensembl
RefSeq Acc Id: ENST00000519050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl727,241,930 - 27,242,962 (-)Ensembl
RefSeq Acc Id: ENST00000519218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl727,241,950 - 27,243,959 (-)Ensembl
RefSeq Acc Id: NR_120507
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38727,241,429 - 27,247,229 (-)NCBI
CHM1_1727,280,775 - 27,286,575 (-)NCBI
T2T-CHM13v2.0727,377,415 - 27,383,215 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC EVX1-AS COSMIC
Ensembl Genes ENSG00000253405 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000517726 ENTREZGENE
GTEx ENSG00000253405 GTEx
HGNC ID HGNC:40223 ENTREZGENE
Human Proteome Map EVX1-AS Human Proteome Map
NCBI Gene EVX1-AS ENTREZGENE
RNAcentral URS00006213E8 RNACentral