AACSP1 (acetoacetyl-CoA synthetase pseudogene 1) - Rat Genome Database

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Gene: AACSP1 (acetoacetyl-CoA synthetase pseudogene 1) Homo sapiens
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Symbol: AACSP1
Name: acetoacetyl-CoA synthetase pseudogene 1
RGD ID: 1604681
HGNC Page HGNC:18226
Description: INTERACTS WITH 2-hydroxypropanoic acid; arsane; arsenic atom
Type: pseudo (Ensembl: transcribed_unprocessed_pseudogene)
RefSeq Status: VALIDATED
Previously known as: AACSL
Related Functional Gene: AACS  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385178,764,861 - 178,818,435 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5178,767,204 - 178,797,611 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl5178,764,861 - 178,818,435 (-)EnsemblGRCh38hg38GRCh38
GRCh375178,191,862 - 178,245,436 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365178,126,805 - 178,148,409 (-)NCBINCBI36Build 36hg18NCBI36
Celera5173,819,191 - 173,830,764 (-)NCBICelera
Cytogenetic Map5q35.3NCBI
HuRef5172,918,257 - 172,929,673 (-)NCBIHuRef
CHM1_15177,624,894 - 177,636,318 (-)NCBICHM1_1
T2T-CHM13v2.05179,318,154 - 179,371,709 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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  


Genomics

Variants

.
Variants in AACSP1
3 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:576
Count of miRNA genes:442
Interacting mature miRNAs:484
Transcripts:ENST00000503486, ENST00000521412, ENST00000536654
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406977057GWAS626033_Hstroke outcome severity measurement QTL GWAS626033 (human)0.000002stroke outcome severity measurement5178790755178790756Human
407015282GWAS664258_Hbone density QTL GWAS664258 (human)3e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)5178797992178797993Human
406935875GWAS584851_HBMI-adjusted waist circumference QTL GWAS584851 (human)0.0000003BMI-adjusted waist circumference5178794573178794574Human
2289409BW320_HBody weight QTL 320 (human)3.50.0002Body weightlean mass5160925164181538259Human
406988070GWAS637046_Hessential tremor QTL GWAS637046 (human)0.000009essential tremor5178778169178778170Human
406958791GWAS607767_Htumor necrosis factor-alpha measurement, response to stimulus QTL GWAS607767 (human)5e-08tumor necrosis factor-alpha measurement, response to stimulusinflammatory exudate tumor necrosis factor level (CMO:0001435)5178793797178793798Human
406980236GWAS629212_Hexercise test QTL GWAS629212 (human)0.0000001exercise test5178781843178781844Human
406977806GWAS626782_Hurate measurement, spine bone mineral density QTL GWAS626782 (human)0.000007urate measurement, spine bone mineral densitybone mineral density (CMO:0001226)5178781843178781844Human

Markers in Region
RH119867  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375178,193,206 - 178,193,487UniSTSGRCh37
Build 365178,125,812 - 178,126,093RGDNCBI36
Celera5173,820,536 - 173,820,817RGD
Cytogenetic Map5q35.3UniSTS
HuRef5172,919,601 - 172,919,882UniSTS
TNG Radiation Hybrid Map583241.0UniSTS
D5S2536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375178,242,774 - 178,242,913UniSTSGRCh37
Build 365178,175,380 - 178,175,519RGDNCBI36
Celera5173,870,333 - 173,870,472RGD
Cytogenetic Map5q35.3UniSTS
HuRef5172,969,136 - 172,969,275UniSTS
Stanford-G3 RH Map56347.0UniSTS
NCBI RH Map5504.3UniSTS


Expression

RNA-SEQ Expression

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
630 1050 1461 755 4328 845 1288 2 269 555 122 1947 2651 2443 34 3030 643 1361 1002 155

Sequence


Ensembl Acc Id: ENST00000503486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5178,764,861 - 178,818,435 (-)Ensembl
Ensembl Acc Id: ENST00000521412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5178,767,204 - 178,797,611 (-)Ensembl
RefSeq Acc Id: NR_024035
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385178,764,861 - 178,818,435 (-)NCBI
T2T-CHM13v2.05179,318,154 - 179,371,709 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135095
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385178,764,861 - 178,818,435 (-)NCBI
T2T-CHM13v2.05179,318,154 - 179,371,709 (-)NCBI
Sequence:
Protein Sequences
GenBank Protein AAI40765 (Get FASTA)   NCBI Sequence Viewer  


Additional Information

Database Acc Id Source(s)
COSMIC AACSP1 COSMIC
Ensembl Genes ENSG00000250420 Ensembl
  ENSG00000291019 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000503486 ENTREZGENE
GTEx ENSG00000250420 GTEx
  ENSG00000291019 GTEx
HGNC ID HGNC:18226 ENTREZGENE
Human Proteome Map AACSP1 Human Proteome Map
NCBI Gene AACSP1 ENTREZGENE
PharmGKB PA134883395 PharmGKB


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 AACSP1  acetoacetyl-CoA synthetase pseudogene 1  AACSL  acetoacetyl-CoA synthetase-like  Symbol and/or name change 5135510 APPROVED