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Gene Gene information from NCBI Gene database.
Entrez ID 9716
Gene name Aquarius intron-binding spliceosomal factor
Gene symbol AQR
Synonyms (NCBI Gene)
IBP160fSAP164
Chromosome 15
Chromosome location 15q14
miRNA miRNA information provided by mirtarbase database.
225 Show/Hide all (225)
miRTarBase ID miRNA Experiments Reference
MIRT052840 hsa-miR-4326 CLASH 23622248
MIRT660576 hsa-miR-3127-3p HITS-CLIP 23824327
MIRT660575 hsa-miR-6756-3p HITS-CLIP 23824327
MIRT660574 hsa-miR-7106-3p HITS-CLIP 23824327
MIRT660573 hsa-miR-4760-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27 Show/Hide all (27)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0000398 Process MRNA splicing, via spliceosome IDA 28076346
GO:0000398 Process MRNA splicing, via spliceosome IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610548 29513 ENSG00000021776
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60306
Protein name RNA helicase aquarius (EC 3.6.4.13) (Intron-binding protein of 160 kDa) (IBP160)
Protein function Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:25599396, PubMed:28076346, PubMed:28502770). Intron-binding spliceosomal protein required to link pre-mRNA splicing and snoRNP (small nucleolar ribonucleoprot
PDB 4PJ3 , 5MQF , 5XJC , 5YZG , 5Z56 , 5Z57 , 6FF7 , 6ICZ , 6ID0 , 6ID1 , 6QDV , 7A5P , 7ABI , 7W59 , 7W5A , 7W5B , 8C6J , 8CH6 , 8I0P , 8I0R , 8I0S , 8I0T , 8I0U , 8I0V , 8I0W , 8RO2 , 9FMD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13086 AAA_11 801 → 1107 AAA domain Domain
PF13087 AAA_12 1115 → 1308 AAA domain Domain
PF16399 Aquarius_N 18 → 802 Intron-binding protein aquarius N-terminus Family
Sequence
Sequence length 1485
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Spliceosome Formation of TC-NER Pre-Incision Complex
  Transcription-Coupled Nucleotide Excision Repair (TC-NER)
  Dual incision in TC-NER
  Gap-filling DNA repair synthesis and ligation in TC-NER
  mRNA Splicing - Major Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 38605603 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 29502958
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 27913619
★★★★★
★☆☆☆☆
Found in Text Mining only