SLC6A1-AS1 (SLC6A1 antisense RNA 1) - Rat Genome Database

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Gene: SLC6A1-AS1 (SLC6A1 antisense RNA 1) Homo sapiens
Analyze
Symbol: SLC6A1-AS1
Name: SLC6A1 antisense RNA 1
RGD ID: 6481296
HGNC Page HGNC:40546
Description: ASSOCIATED WITH autosomal dominant nocturnal frontal lobe epilepsy; Developmental Disabilities; epilepsy
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: AC024910.2
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38311,006,098 - 11,019,224 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl311,006,098 - 11,019,224 (-)EnsemblGRCh38hg38GRCh38
GRCh37311,047,784 - 11,060,910 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map3p25.3NCBI
HuRef310,982,607 - 10,995,723 (-)NCBIHuRef
CHM1_1310,997,813 - 11,010,930 (-)NCBICHM1_1
T2T-CHM13v2.0311,000,581 - 11,013,692 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SLC6A1-AS1Humanautosomal dominant nocturnal frontal lobe epilepsy  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Autosomal dominant epilepsyClinVarPMID:25865495 more ...
SLC6A1-AS1HumanDevelopmental Disabilities  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Global developmental delayClinVarPMID:32581362
SLC6A1-AS1Humanepilepsy  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: SeizureClinVarPMID:25741868
SLC6A1-AS1Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:28492532
SLC6A1-AS1Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25865495 and PMID:28492532
SLC6A1-AS1Humangenetic disease  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 and PMID:28492532
SLC6A1-AS1Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:26467025 more ...
SLC6A1-AS1Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 more ...
SLC6A1-AS1Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:26467025
SLC6A1-AS1Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
SLC6A1-AS1Humanintellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: intellectual disabilitiesClinVarPMID:25741868
SLC6A1-AS1Humanmyoclonic-atonic epilepsy  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:25741868 more ...
SLC6A1-AS1Humanmyoclonic-atonic epilepsy  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: SLC6A1-related conditionClinVarPMID:25741868 more ...
SLC6A1-AS1Humanmyoclonic-atonic epilepsy  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:26467025 more ...
SLC6A1-AS1Humanmyoclonic-atonic epilepsy  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:25865495 more ...
SLC6A1-AS1Humanmyoclonic-atonic epilepsy  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:28492532 more ...
SLC6A1-AS1Humanmyoclonic-atonic epilepsy  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:28492532 and PMID:29315614
SLC6A1-AS1Humanmyoclonic-atonic epilepsy  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:28492532 more ...
SLC6A1-AS1Humanmyoclonic-atonic epilepsy  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:15496410 more ...
SLC6A1-AS1Humanmyoclonic-atonic epilepsy  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:28492532 and PMID:28708303
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1 to 20 of 203 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SLC6A1-AS1HumanGeneralized myoclonic-atonic seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:25741868
SLC6A1-AS1HumanGeneralized myoclonic-atonic seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:28492532
SLC6A1-AS1HumanGeneralized myoclonic-atonic seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:25741868 more ...
SLC6A1-AS1HumanGeneralized myoclonic-atonic seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:19344873 more ...
SLC6A1-AS1HumanGeneralized myoclonic-atonic seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVar 
SLC6A1-AS1HumanGeneralized myoclonic-atonic seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:25741868
SLC6A1-AS1HumanGeneralized myoclonic-atonic seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:25741868
SLC6A1-AS1HumanGeneralized myoclonic-atonic seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:28492532
SLC6A1-AS1HumanGeneralized myoclonic-atonic seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Myoclonic atonic seizuresClinVarPMID:25741868
SLC6A1-AS1HumanGeneralized myoclonic-atonic seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:25741868 more ...
SLC6A1-AS1HumanGeneralized myoclonic-atonic seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:25741868 more ...
SLC6A1-AS1HumanGeneralized myoclonic-atonic seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:28492532
SLC6A1-AS1HumanGeneralized myoclonic-atonic seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:28492532
SLC6A1-AS1HumanGeneralized myoclonic-atonic seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:25741868 and PMID:28492532
SLC6A1-AS1HumanGeneralized myoclonic-atonic seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:25865495 and PMID:28492532
SLC6A1-AS1HumanGeneralized myoclonic-atonic seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:25865495 more ...
SLC6A1-AS1HumanGeneralized myoclonic-atonic seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:28492532
SLC6A1-AS1HumanGeneralized myoclonic-atonic seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:25741868
SLC6A1-AS1HumanGeneralized myoclonic-atonic seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:25741868 and PMID:29315614
SLC6A1-AS1HumanGeneralized myoclonic-atonic seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized myoclonic-atonic seizureClinVarPMID:28492532
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#
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
PMID:16344560  



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Variants in SLC6A1-AS1
248 total Variants

Predicted Target Of
Summary Value
Count of predictions:236
Count of miRNA genes:226
Interacting mature miRNAs:235
Transcripts:ENST00000414969
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.


The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597230059GWAS1326133_Hovarian carcinoma QTL GWAS1326133 (human)0.000009ovarian carcinoma31100764311007644Human
2316345GLUCO224_HGlucose level QTL 224 (human)1.270.008Glucose level3121543441Human
597441376GWAS1537450_Hthreonate measurement QTL GWAS1537450 (human)0.000009threonate measurement31101365211013653Human




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
958 1464 2140 1883 3969 1105 1544 1 422 274 371 1494 4199 3828 5 3522 576 1333 934 53



Ensembl Acc Id: ENST00000414969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,006,098 - 11,019,224 (-)Ensembl
RefSeq Acc Id: NR_046647
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,006,098 - 11,019,224 (-)NCBI
GRCh37311,047,784 - 11,060,910 (-)NCBI
HuRef310,982,607 - 10,995,723 (-)NCBI
CHM1_1310,997,813 - 11,010,930 (-)NCBI
T2T-CHM13v2.0311,000,581 - 11,013,692 (-)NCBI
Sequence:


Database
Acc Id
Source(s)
COSMIC SLC6A1-AS1 COSMIC
Ensembl Genes ENSG00000232287 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000414969 ENTREZGENE
GTEx ENSG00000232287 GTEx
HGNC ID HGNC:40546 ENTREZGENE
Human Proteome Map SLC6A1-AS1 Human Proteome Map
NCBI Gene SLC6A1-AS1 ENTREZGENE
RNAcentral URS000047B0CD RNACentral


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-08-21 SLC6A1-AS1  SLC6A1 antisense RNA 1  SLC6A1-AS1  SLC6A1 antisense RNA 1 (non-protein coding)  Symbol and/or name change 5135510 APPROVED