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

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Gene: EZR-AS1 (EZR antisense RNA 1) Homo sapiens
Analyze
Symbol: EZR-AS1
Name: EZR antisense RNA 1
RGD ID: 7242889
HGNC Page HGNC:40609
Description: ASSOCIATED WITH chromosome 6q24-q25 deletion syndrome; INTERACTS WITH sodium arsenite; triclosan
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: RP11-507C10.5
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386158,817,979 - 158,822,239 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6158,817,979 - 158,822,252 (+)EnsemblGRCh38hg38GRCh38
GRCh376159,239,011 - 159,243,271 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map6q25.3NCBI
HuRef6156,709,678 - 156,713,798 (+)NCBIHuRef
CHM1_16159,501,613 - 159,505,876 (+)NCBICHM1_1
T2T-CHM13v2.06160,063,423 - 160,067,686 (+)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
References
Additional References at PubMed
PMID:29253179   PMID:32596350   PMID:33236153  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1 copy number loss See cases [RCV000134896] Chr6:154178964..159020369 [GRCh38]
Chr6:154500098..159441401 [GRCh37]
Chr6:154541790..159361389 [NCBI36]
Chr6:6q25.2-25.3		 likely pathogenic
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 copy number loss See cases [RCV000137381] Chr6:154539655..170714507 [GRCh38]
Chr6:154860789..171023595 [GRCh37]
Chr6:154902481..170865520 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1 copy number loss See cases [RCV000137831] Chr6:155378049..163133499 [GRCh38]
Chr6:155699183..163554531 [GRCh37]
Chr6:155740875..163474521 [NCBI36]
Chr6:6q25.3-26		 pathogenic
GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1 copy number loss See cases [RCV000139578] Chr6:150381239..159553952 [GRCh38]
Chr6:150702375..159974984 [GRCh37]
Chr6:150744068..159894974 [NCBI36]
Chr6:6q25.1-25.3		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 copy number loss See cases [RCV000141880] Chr6:152793402..170610394 [GRCh38]
Chr6:153114537..170919482 [GRCh37]
Chr6:153156230..170761407 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 copy number gain See cases [RCV000142594] Chr6:152376338..170612001 [GRCh38]
Chr6:152697473..170921089 [GRCh37]
Chr6:152739166..170763014 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 copy number gain See cases [RCV000143444] Chr6:133537271..165875545 [GRCh38]
Chr6:133858409..166289033 [GRCh37]
Chr6:133900102..166209023 [NCBI36]
Chr6:6q23.2-27		 pathogenic
GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3 copy number gain See cases [RCV000143618] Chr6:158585724..160899783 [GRCh38]
Chr6:159006756..161320815 [GRCh37]
Chr6:158926744..161240805 [NCBI36]
Chr6:6q25.3-26		 uncertain significance
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 copy number gain See cases [RCV000050604] Chr6:141132990..169339571 [GRCh38]
Chr6:141454127..169739666 [GRCh37]
Chr6:141495820..169481591 [NCBI36]
Chr6:6q24.1-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 copy number loss See cases [RCV000052207] Chr6:154118058..170602152 [GRCh38]
Chr6:154439193..170911240 [GRCh37]
Chr6:154480885..170753165 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|See cases [RCV000051902] Chr6:152376338..170583214 [GRCh38]
Chr6:152697473..170892302 [GRCh37]
Chr6:152739166..170734227 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3(chr6:157827805-159726548)x3 copy number gain See cases [RCV000051903] Chr6:157827805..159726548 [GRCh38]
Chr6:158248837..160147580 [GRCh37]
Chr6:158168825..160067570 [NCBI36]
Chr6:6q25.3		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:158664768-170612001)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|See cases [RCV000051904] Chr6:158664768..170612001 [GRCh38]
Chr6:159085800..170921089 [GRCh37]
Chr6:159005788..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
NC_000006.12:g.(?_150381239)_(159553952_?)del deletion Chromosome 6q24-q25 deletion syndrome [RCV003884000] Chr6:150381239..159553952 [GRCh38]
Chr6:6q25.1-25.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:202
Count of miRNA genes:198
Interacting mature miRNAs:199
Transcripts:ENST00000451712
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.


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 9 7 29 2 1 1 1
Low 348 100 376 69 448 57 336 204 243 129 585 437 18 39 171 3
Below cutoff 768 675 589 170 309 106 1075 496 1009 138 306 488 66 273 681

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000451712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6158,817,979 - 158,822,252 (+)Ensembl
RefSeq Acc Id: NR_102425
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386158,817,979 - 158,822,239 (+)NCBI
GRCh376159,239,011 - 159,243,271 (+)NCBI
HuRef6156,709,678 - 156,713,798 (+)NCBI
CHM1_16159,501,613 - 159,505,876 (+)NCBI
T2T-CHM13v2.06160,063,423 - 160,067,686 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC EZR-AS1 COSMIC
Ensembl Genes ENSG00000233893 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000451712 ENTREZGENE
GTEx ENSG00000233893 GTEx
HGNC ID HGNC:40609 ENTREZGENE
Human Proteome Map EZR-AS1 Human Proteome Map
NCBI Gene EZR-AS1 ENTREZGENE
RNAcentral URS000075E0FC RNACentral