PRKAG2-AS1 (PRKAG2 antisense RNA 1) - Rat Genome Database

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Gene: PRKAG2-AS1 (PRKAG2 antisense RNA 1) Homo sapiens
Analyze
Symbol: PRKAG2-AS1
Name: PRKAG2 antisense RNA 1
RGD ID: 6770814
HGNC Page HGNC:40468
Description: ASSOCIATED WITH hypertrophic cardiomyopathy 6; lethal congenital glycogen storage disease of heart; Wolff-Parkinson-White syndrome; INTERACTS WITH 17beta-estradiol; cadmium dichloride; carbamazepine
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: RP11-796I2.2
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387151,877,042 - 151,879,223 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7151,877,042 - 151,879,229 (+)EnsemblGRCh38hg38GRCh38
GRCh377151,574,127 - 151,576,308 (+)NCBIGRCh37GRCh37hg19GRCh37
Celera7146,131,750 - 146,133,931 (+)NCBICelera
Cytogenetic Map7q36.1NCBI
HuRef7145,385,575 - 145,387,756 (+)NCBIHuRef
CHM1_17151,582,791 - 151,584,972 (+)NCBICHM1_1
T2T-CHM13v2.07153,049,869 - 153,052,050 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27150,901,337 - 150,903,518 (+)NCBI
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

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:32704143  


Genomics

Variants

.
Variants in PRKAG2-AS1
8 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 7q36.1-36.2(chr7:151214163-153187462)x1 copy number loss See cases [RCV000134853] Chr7:151214163..153187462 [GRCh38]
Chr7:150911249..152884547 [GRCh37]
Chr7:150542182..152515480 [NCBI36]
Chr7:7q36.1-36.2		 pathogenic
GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3 copy number gain See cases [RCV000135825] Chr7:147345844..153833351 [GRCh38]
Chr7:147042936..153530436 [GRCh37]
Chr7:146673869..153161369 [NCBI36]
Chr7:7q35-36.2		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1 copy number loss See cases [RCV000136125] Chr7:151378879..158923762 [GRCh38]
Chr7:151075965..158716453 [GRCh37]
Chr7:150706898..158409214 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic|benign
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1 copy number loss See cases [RCV000136089] Chr7:150486071..159335865 [GRCh38]
Chr7:150183159..159128555 [GRCh37]
Chr7:149814092..158821316 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3 copy number gain See cases [RCV000136683] Chr7:151104277..159325876 [GRCh38]
Chr7:150801364..159118566 [GRCh37]
Chr7:150432297..158811327 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1 copy number loss See cases [RCV000137465] Chr7:150802801..159335866 [GRCh38]
Chr7:150499889..159128556 [GRCh37]
Chr7:150130822..158821317 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1 copy number loss See cases [RCV000137338] Chr7:145436544..159331441 [GRCh38]
Chr7:145133637..159124131 [GRCh37]
Chr7:144764570..158816892 [NCBI36]
Chr7:7q35-36.3		 pathogenic|likely pathogenic
GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1 copy number loss See cases [RCV000138005] Chr7:145250254..159335866 [GRCh38]
Chr7:144947347..159128556 [GRCh37]
Chr7:144578280..158821317 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3 copy number gain See cases [RCV000138566] Chr7:150113232..154162779 [GRCh38]
Chr7:149810321..153859864 [GRCh37]
Chr7:149441254..153490797 [NCBI36]
Chr7:7q36.1-36.2		 likely pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.2(chr7:151424353-153358923)x1 copy number loss See cases [RCV000142444] Chr7:151424353..153358923 [GRCh38]
Chr7:151121439..153056008 [GRCh37]
Chr7:150752372..152686941 [NCBI36]
Chr7:7q36.1-36.2		 uncertain significance
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1 copy number loss See cases [RCV000142592] Chr7:150260297..159325876 [GRCh38]
Chr7:149957386..159118566 [GRCh37]
Chr7:149588319..158811327 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1 copy number loss See cases [RCV000137781] Chr7:146047157..157522158 [GRCh38]
Chr7:145744250..157314852 [GRCh37]
Chr7:145375183..157007613 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3 copy number gain See cases [RCV000139660] Chr7:150275734..153342804 [GRCh38]
Chr7:149972823..153039889 [GRCh37]
Chr7:149603756..152670822 [NCBI36]
Chr7:7q36.1-36.2		 uncertain significance
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q36.1(chr7:151843296-152652302)x3 copy number gain See cases [RCV000143620] Chr7:151843296..152652302 [GRCh38]
Chr7:151540382..152349387 [GRCh37]
Chr7:151171315..151980320 [NCBI36]
Chr7:7q36.1		 likely benign|uncertain significance
GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1 copy number loss See cases [RCV000143503] Chr7:147144002..159327017 [GRCh38]
Chr7:146841094..159119707 [GRCh37]
Chr7:146472027..158812468 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1 copy number loss See cases [RCV000050552] Chr7:150319864..152674271 [GRCh38]
Chr7:150016953..152371356 [GRCh37]
Chr7:149647886..152002289 [NCBI36]
Chr7:7q36.1		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1 copy number loss See cases [RCV000050750] Chr7:143884559..152674271 [GRCh38]
Chr7:143581652..152371356 [GRCh37]
Chr7:143212585..152002289 [NCBI36]
Chr7:7q35-36.1		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1 copy number loss See cases [RCV000051108] Chr7:147250465..159325876 [GRCh38]
Chr7:146947557..159118566 [GRCh37]
Chr7:146578490..158811327 [NCBI36]
Chr7:7q35-36.3		 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 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1 copy number loss See cases [RCV000054178] Chr7:143884559..159282390 [GRCh38]
Chr7:143581652..159075079 [GRCh37]
Chr7:143212585..158767840 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1 copy number loss See cases [RCV000054188] Chr7:145699944..159296617 [GRCh38]
Chr7:145397037..159089306 [GRCh37]
Chr7:145027970..158782067 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1 copy number loss See cases [RCV000054189] Chr7:148256584..152332535 [GRCh38]
Chr7:147953676..152029620 [GRCh37]
Chr7:147584609..151660553 [NCBI36]
Chr7:7q36.1		 pathogenic
NM_016203.3(PRKAG2):c.-560C>T single nucleotide variant Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000352884]|Wolff-Parkinson-White pattern [RCV001795991]|not provided [RCV001653720] Chr7:151877180 [GRCh38]
Chr7:151574265 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_016203.3(PRKAG2):c.-520C>T single nucleotide variant Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000280378]|Wolff-Parkinson-White pattern [RCV001795990]|not provided [RCV000832993] Chr7:151877140 [GRCh38]
Chr7:151574225 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_016203.3(PRKAG2):c.-517G>T single nucleotide variant Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000377271]|Lethal congenital glycogen storage disease of heart [RCV000320365]|Wolff-Parkinson-White pattern [RCV001795989] Chr7:151877137 [GRCh38]
Chr7:151574222 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_016203.3(PRKAG2):c.-580C>T single nucleotide variant Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000394232]|Lethal congenital glycogen storage disease of heart [RCV000307282]|Wolff-Parkinson-White pattern [RCV001795993] Chr7:151877200 [GRCh38]
Chr7:151574285 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_016203.3(PRKAG2):c.-575C>T single nucleotide variant Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000394230]|Lethal congenital glycogen storage disease of heart [RCV000346834]|Wolff-Parkinson-White pattern [RCV001795992] Chr7:151877195 [GRCh38]
Chr7:151574280 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3		 likely pathogenic
NM_016203.3(PRKAG2):c.-769G>C single nucleotide variant not provided [RCV000828513] Chr7:151877389 [GRCh38]
Chr7:151574474 [GRCh37]
Chr7:7q36.1		 benign
NM_016203.4(PRKAG2):c.-481G>A single nucleotide variant Hypertrophic cardiomyopathy 6 [RCV001161763]|Wolff-Parkinson-White pattern [RCV001163288] Chr7:151877101 [GRCh38]
Chr7:151574186 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.14:g.151877573C>T single nucleotide variant not provided [RCV001667711] Chr7:151877573 [GRCh38]
Chr7:151574658 [GRCh37]
Chr7:7q36.1		 benign
NM_016203.3(PRKAG2):c.-514G>T single nucleotide variant PRKAG2-related condition [RCV003899237] Chr7:151877134 [GRCh38]
Chr7:151574219 [GRCh37]
Chr7:7q36.1		 likely benign
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:365
Count of miRNA genes:295
Interacting mature miRNAs:307
Transcripts:ENST00000464464, ENST00000467458
Prediction methods:Microtar, 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
RH79622  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377151,573,674 - 151,573,862UniSTSGRCh37
Build 367151,204,607 - 151,204,795RGDNCBI36
Celera7146,131,297 - 146,131,485RGD
Cytogenetic Map7q36.1UniSTS
HuRef7145,385,122 - 145,385,310UniSTS
CRA_TCAGchr7v27150,900,884 - 150,901,072UniSTS
GeneMap99-GB4 RH Map7693.02UniSTS
RH94262  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377151,575,859 - 151,575,988UniSTSGRCh37
Build 367151,206,792 - 151,206,921RGDNCBI36
Celera7146,133,482 - 146,133,611RGD
Cytogenetic Map7q36.1UniSTS
HuRef7145,387,307 - 145,387,436UniSTS
CRA_TCAGchr7v27150,903,069 - 150,903,198UniSTS
GeneMap99-GB4 RH Map7675.32UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 103 91 247 185 74 125 897 32 1503 50 341 237 60 878 267
Low 2272 2819 1452 428 1535 327 3239 1925 2188 340 1062 1318 107 1 326 2343 2 2
Below cutoff 45 76 16 7 162 9 208 230 28 27 42 43 2 177 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000464464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,877,042 - 151,878,814 (+)Ensembl
RefSeq Acc Id: ENST00000467458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,877,459 - 151,879,229 (+)Ensembl
RefSeq Acc Id: ENST00000687407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,877,743 - 151,879,229 (+)Ensembl
RefSeq Acc Id: ENST00000689578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,877,652 - 151,879,214 (+)Ensembl
RefSeq Acc Id: ENST00000690829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,877,480 - 151,879,229 (+)Ensembl
RefSeq Acc Id: ENST00000702909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,877,653 - 151,879,214 (+)Ensembl
RefSeq Acc Id: NR_038926
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,877,042 - 151,879,223 (+)NCBI
GRCh377151,574,127 - 151,576,308 (+)NCBI
HuRef7145,385,575 - 145,387,756 (+)NCBI
CHM1_17151,582,791 - 151,584,972 (+)NCBI
T2T-CHM13v2.07153,049,869 - 153,052,050 (+)NCBI
CRA_TCAGchr7v27150,901,337 - 150,903,518 (+)NCBI
Sequence:
Promoters
RGD ID:15096170
Promoter ID:EPDNEWNC_H1008
Type:initiation region
Name:PRKAG2-AS1_1
Description:PRKAG2 antisense RNA 1 [Source:HGNC Symbol;Acc:HGNC:40468]
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
GRCh387151,877,499 - 151,877,559EPDNEWNC

Additional Information

Database Acc Id Source(s)
COSMIC PRKAG2-AS1 COSMIC
Ensembl Genes ENSG00000239911 Ensembl
GTEx ENSG00000239911 GTEx
HGNC ID HGNC:40468 ENTREZGENE
Human Proteome Map PRKAG2-AS1 Human Proteome Map
NCBI Gene PRKAG2-AS1 ENTREZGENE
RNAcentral URS000075E0AB RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-08-21 PRKAG2-AS1  PRKAG2 antisense RNA 1  PRKAG2-AS1  PRKAG2 antisense RNA 1 (non-protein coding)  Symbol and/or name change 5135510 APPROVED