EHBP1-AS1 (EHBP1 antisense RNA 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: EHBP1-AS1 (EHBP1 antisense RNA 1) Homo sapiens
Analyze
Symbol: EHBP1-AS1
Name: EHBP1 antisense RNA 1
RGD ID: 16555083
HGNC Page HGNC:55766
Description: ASSOCIATED WITH genetic disease
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: AC007098.1; LOC100132215; novel transcript, antisense to EHBP1; uncharacterized LOC100132215
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38.p14 Ensembl - Human Genome Assembly GRCh38 Ensembl
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38263,043,922 - 63,048,521 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl262,957,326 - 63,048,640 (-)EnsemblGRCh38hg38GRCh38
GRCh37263,271,057 - 63,275,656 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map2p15NCBI
HuRef263,010,000 - 63,014,600 (-)NCBIHuRef
CHM1_1263,201,393 - 63,205,942 (-)NCBICHM1_1
T2T-CHM13v2.0263,050,999 - 63,055,598 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:12477932  


Genomics

Variants

.
Variants in EHBP1-AS1
3 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 copy number gain See cases [RCV000136053] Chr2:58279519..83586962 [GRCh38]
Chr2:58506654..83814086 [GRCh37]
Chr2:58360158..83667597 [NCBI36]
Chr2:2p16.1-11.2		 pathogenic
GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1 copy number loss See cases [RCV000054022] Chr2:58873039..64190332 [GRCh38]
Chr2:59100174..64417466 [GRCh37]
Chr2:58953678..64270970 [NCBI36]
Chr2:2p16.1-14		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1 copy number loss See cases [RCV000143007] Chr2:58031916..63611810 [GRCh38]
Chr2:58259051..63838944 [GRCh37]
Chr2:58112555..63692448 [NCBI36]
Chr2:2p16.1-15		 pathogenic
NM_001142616.3(EHBP1):c.3289A>G (p.Thr1097Ala) single nucleotide variant Inborn genetic diseases [RCV002736909] Chr2:63045077 [GRCh38]
Chr2:63272212 [GRCh37]
Chr2:2p15		 uncertain significance
NM_001142616.3(EHBP1):c.3390G>T (p.Lys1130Asn) single nucleotide variant Inborn genetic diseases [RCV002803356] Chr2:63045178 [GRCh38]
Chr2:63272313 [GRCh37]
Chr2:2p15		 uncertain significance
NM_001142616.3(EHBP1):c.3365T>A (p.Val1122Asp) single nucleotide variant Inborn genetic diseases [RCV002988119] Chr2:63045153 [GRCh38]
Chr2:63272288 [GRCh37]
Chr2:2p15		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1314
Count of miRNA genes:683
Interacting mature miRNAs:768
Transcripts:ENST00000412297, ENST00000413549, ENST00000429952, ENST00000437346, ENST00000452397
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 32 2 6 3 577 6 617 81 4 1 1 575
Low 2296 1786 1626 558 969 398 3149 1264 2873 267 1265 1478 168 1198 1641 1
Below cutoff 94 1128 66 45 877 47 628 918 217 139 99 117 2 5 572 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000412297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl263,044,442 - 63,048,221 (-)Ensembl
RefSeq Acc Id: ENST00000413549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl263,045,311 - 63,048,521 (-)Ensembl
RefSeq Acc Id: ENST00000429952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl263,043,922 - 63,047,711 (-)Ensembl
RefSeq Acc Id: ENST00000437346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl263,045,061 - 63,048,640 (-)Ensembl
RefSeq Acc Id: ENST00000650490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl262,957,326 - 63,047,656 (-)Ensembl
RefSeq Acc Id: ENST00000660923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl263,045,377 - 63,047,289 (-)Ensembl
RefSeq Acc Id: NR_027069
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38263,043,922 - 63,047,711 (-)NCBI
T2T-CHM13v2.0263,050,999 - 63,054,788 (-)NCBI
Sequence:
RefSeq Acc Id: NR_033389
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38263,043,922 - 63,048,521 (-)NCBI
T2T-CHM13v2.0263,050,999 - 63,055,598 (-)NCBI
Sequence:
Protein Sequences
GenBank Protein BAH12024 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences


Additional Information

Database Acc Id Source(s)
COSMIC EHBP1-AS1 COSMIC
Ensembl Genes ENSG00000231609 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000429952 ENTREZGENE
GTEx ENSG00000231609 GTEx
HGNC ID HGNC:55766 ENTREZGENE
Human Proteome Map EHBP1-AS1 Human Proteome Map
NCBI Gene LOC100132215 ENTREZGENE
RNAcentral URS00000E62F0 RNACentral
  URS000075B488 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-07-26 EHBP1-AS1  EHBP1 antisense RNA 1  AC007098.1  novel transcript, antisense to EHBP1  Symbol and/or name change 19259463 PROVISIONAL
2020-06-25 AC007098.1  novel transcript, antisense to EHBP1  LOC100132215  uncharacterized LOC100132215  Symbol and/or name change 19259462 PROVISIONAL
2020-06-18 LOC100132215  uncharacterized LOC100132215  AC007098.1  novel transcript, antisense to EHBP1  Symbol and/or name change 5135510 APPROVED