AQR (aquarius intron-binding spliceosomal factor)

2015-10-01  

Identity

HGNC
AQR
LOCATION
15q14
LOCUSID
9716
ALIAS
IBP160,fSAP164
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9716
MIM: 610548
HGNC: 29513
Ensembl: ENSG00000021776

Variants:

dbSNP: 9716
ClinVar: 9716
TCGA: ENSG00000021776
COSMIC: AQR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000021776ENST00000156471O60306
ENSG00000021776ENST00000156471A0A024R9L1
ENSG00000021776ENST00000543879H0YH15
ENSG00000021776ENST00000560117H0YLN9

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, 35S U5-snRNPKEGGhsa_M00355
Spliceosome, 35S U5-snRNPKEGGM00355
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
DNA RepairREACTOMER-HSA-73894
Nucleotide Excision RepairREACTOMER-HSA-5696398
Transcription-Coupled Nucleotide Excision Repair (TC-NER)REACTOMER-HSA-6781827
Formation of TC-NER Pre-Incision ComplexREACTOMER-HSA-6781823
Dual incision in TC-NERREACTOMER-HSA-6782135
Gap-filling DNA repair synthesis and ligation in TC-NERREACTOMER-HSA-6782210

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
205883082010Dengue hemorrhagic fever is associated with polymorphisms in JAK1.9
295029582018AQR is a novel type 2 diabetes-associated gene that regulates signaling pathways critical for glucose metabolism.3

Citation

Dessen P

AQR (aquarius intron-binding spliceosomal factor)

Atlas Genet Cytogenet Oncol Haematol. 2015-10-01

Online version: http://atlasgeneticsoncology.org/gene/55464/aqr-(aquarius-intron-binding-spliceosomal-factor)