GAS5-AS1 (GAS5 antisense RNA 1) - Rat Genome Database

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Gene: GAS5-AS1 (GAS5 antisense RNA 1) Homo sapiens
Analyze
Symbol: GAS5-AS1
Name: GAS5 antisense RNA 1
RGD ID: 6766444
HGNC Page HGNC:44119
Description: ASSOCIATED WITH antithrombin III deficiency; Reduced antithrombin III activity; INTERACTS WITH cisplatin
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
GRCh381173,863,248 - 173,863,941 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1173,862,473 - 173,863,941 (+)EnsemblGRCh38hg38GRCh38
GRCh371173,832,386 - 173,833,079 (+)NCBIGRCh37GRCh37hg19GRCh37
Celera1146,940,759 - 146,942,548 (+)NCBICelera
Cytogenetic Map1q25.1NCBI
HuRef1145,057,341 - 145,058,034 (+)NCBIHuRef
CHM1_11175,254,827 - 175,255,520 (+)NCBICHM1_1
T2T-CHM13v2.01173,221,365 - 173,222,059 (+)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
cisplatin  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:29249416   PMID:29660898   PMID:30197169   PMID:32020207   PMID:33864612   PMID:33937403   PMID:34022918   PMID:34933738   PMID:34936242   PMID:37120495   PMID:37379961   PMID:38197962  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 copy number gain See cases [RCV000134876] Chr1:171039975..186875957 [GRCh38]
Chr1:171009116..186845089 [GRCh37]
Chr1:169275740..185111712 [NCBI36]
Chr1:1q24.3-31.1		 pathogenic
GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1 copy number loss See cases [RCV000137128] Chr1:169218236..178075834 [GRCh38]
Chr1:169187474..178044969 [GRCh37]
Chr1:167454098..176311592 [NCBI36]
Chr1:1q24.2-25.2		 pathogenic
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 copy number loss See cases [RCV000142369] Chr1:170929720..191065409 [GRCh38]
Chr1:170898861..191034539 [GRCh37]
Chr1:169165485..189301162 [NCBI36]
Chr1:1q24.3-31.2		 pathogenic
GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1 copy number loss See cases [RCV000143292] Chr1:163382523..175877022 [GRCh38]
Chr1:163352313..175846158 [GRCh37]
Chr1:161618937..174112781 [NCBI36]
Chr1:1q23.3-25.1		 pathogenic
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 copy number loss See cases [RCV000143688] Chr1:170036068..187555148 [GRCh38]
Chr1:170005209..187524280 [GRCh37]
Chr1:168271833..185790903 [NCBI36]
Chr1:1q24.2-31.1		 pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3 copy number gain See cases [RCV000051856] Chr1:164922655..180061589 [GRCh38]
Chr1:164891892..180030724 [GRCh37]
Chr1:163158516..178297347 [NCBI36]
Chr1:1q23.3-25.2		 pathogenic
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1		 pathogenic
GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1 copy number loss See cases [RCV000053914] Chr1:161740907..173965154 [GRCh38]
Chr1:161710697..173934292 [GRCh37]
Chr1:159977321..172200915 [NCBI36]
Chr1:1q23.3-25.1		 pathogenic
GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1 copy number loss See cases [RCV000053917] Chr1:166762832..175327423 [GRCh38]
Chr1:166732069..175296559 [GRCh37]
Chr1:164998693..173563182 [NCBI36]
Chr1:1q24.1-25.1		 pathogenic
GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1 copy number loss See cases [RCV000053918] Chr1:168314822..175299299 [GRCh38]
Chr1:168284060..175268435 [GRCh37]
Chr1:166550684..173535058 [NCBI36]
Chr1:1q24.2-25.1		 pathogenic
NC_000001.11:g.173850996_173950174del deletion Hereditary antithrombin deficiency [RCV001779996] Chr1:173850996..173950174 [GRCh38]
Chr1:1q25.1		 pathogenic
NC_000001.11:g.173787361_174223422del deletion Hereditary antithrombin deficiency [RCV001779997] Chr1:173787361..174223422 [GRCh38]
Chr1:1q25.1		 pathogenic
NC_000001.11:g.173501975_175305010del deletion Hereditary antithrombin deficiency [RCV001779970] Chr1:173501975..175305010 [GRCh38]
Chr1:1q25.1		 pathogenic
NC_000001.11:g.173859535_173926473del deletion Hereditary antithrombin deficiency [RCV001779973] Chr1:173859535..173926473 [GRCh38]
Chr1:1q25.1		 pathogenic
NC_000001.11:g.173686375_176083118del deletion Hereditary antithrombin deficiency [RCV001779974] Chr1:173686375..176083118 [GRCh38]
Chr1:1q25.1		 pathogenic
NC_000001.11:g.172987296_174843232del deletion Hereditary antithrombin deficiency [RCV001779981] Chr1:172987296..174843232 [GRCh38]
Chr1:1q24.3-25.1		 pathogenic
NC_000001.11:g.173848142_174816147del deletion Hereditary antithrombin deficiency [RCV001779992] Chr1:173848142..174816147 [GRCh38]
Chr1:1q25.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:170
Count of miRNA genes:164
Interacting mature miRNAs:169
Transcripts:ENST00000602767
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.

Markers in Region
SHGC-35933  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,832,908 - 173,833,024UniSTSGRCh37
Build 361172,099,531 - 172,099,647RGDNCBI36
Celera1146,942,377 - 146,942,493RGD
Cytogenetic Map1q25.1UniSTS
HuRef1145,057,863 - 145,057,979UniSTS
TNG Radiation Hybrid Map180529.0UniSTS
Stanford-G3 RH Map16878.0UniSTS
NCBI RH Map11524.6UniSTS
GeneMap99-G3 RH Map16834.0UniSTS
PMC109273P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,431,323 - 90,431,367UniSTSGRCh37
GRCh371173,833,192 - 173,833,417UniSTSGRCh37
Build 361172,099,815 - 172,100,040RGDNCBI36
Celera690,850,286 - 90,850,330UniSTS
Celera1146,942,661 - 146,942,886RGD
Cytogenetic Map6q15UniSTS
Cytogenetic Map1q25.1UniSTS
HuRef687,648,258 - 87,648,302UniSTS
HuRef1145,058,147 - 145,058,372UniSTS
STS-AA020818  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,832,808 - 173,833,047UniSTSGRCh37
Build 361172,099,431 - 172,099,670RGDNCBI36
Celera1146,942,277 - 146,942,516RGD
Cytogenetic Map1q25.1UniSTS
HuRef1145,057,763 - 145,058,002UniSTS
GeneMap99-GB4 RH Map1620.45UniSTS
NCBI RH Map11506.9UniSTS


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 5 3 7 4 17 14 21 23
Low 2417 2411 1697 596 1456 441 4200 1985 3563 402 1418 1582 167 1199 2644 4
Below cutoff 13 503 23 26 417 23 152 201 127 2 9 1 3 5 142

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000602767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1173,862,473 - 173,863,941 (+)Ensembl
RefSeq Acc Id: NR_037605
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381173,863,248 - 173,863,941 (+)NCBI
GRCh371173,832,386 - 173,833,079 (+)NCBI
HuRef1145,057,341 - 145,058,034 (+)NCBI
CHM1_11175,254,827 - 175,255,520 (+)NCBI
T2T-CHM13v2.01173,221,365 - 173,222,059 (+)NCBI
Sequence:
Promoters
RGD ID:15095309
Promoter ID:EPDNEWNC_H143
Type:initiation region
Name:GAS5-AS1_1
Description:GAS5 antisense RNA 1 [Source:HGNC Symbol;Acc:HGNC:44119]
SO ACC ID:SO:0000170
Source:EPDNEWNC (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381173,863,256 - 173,863,316EPDNEWNC

Additional Information

Database Acc Id Source(s)
COSMIC GAS5-AS1 COSMIC
Ensembl Genes ENSG00000270084 Ensembl
GTEx ENSG00000270084 GTEx
HGNC ID HGNC:44119 ENTREZGENE
Human Proteome Map GAS5-AS1 Human Proteome Map
NCBI Gene GAS5-AS1 ENTREZGENE
RNAcentral URS000075DC2A RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-08-21 GAS5-AS1  GAS5 antisense RNA 1  GAS5-AS1  GAS5 antisense RNA 1 (non-protein coding)  Symbol and/or name change 5135510 APPROVED