AQR

Summary

AQR (aquarius intron-binding spliceosomal factor, HGNC:29513) is a protein-coding gene on chromosome 15q14, encoding RNA helicase aquarius (O60306). Involved in pre-mRNA splicing as component of the spliceosome. It is a common-essential gene (DepMap: required in 98.8% of cancer cell lines).

Enables 3’-5’ RNA helicase activity and single-stranded RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleoplasm. Part of U2-type catalytic step 2 spliceosome.

Source: NCBI Gene 9716 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 170 total
• Cancer dependency (DepMap): dependent in 98.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_014691

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29513
Approved symbol	AQR
Name	aquarius intron-binding spliceosomal factor
Location	15q14
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0560, fSAP164, IBP160
Ensembl gene	ENSG00000021776
Ensembl biotype	protein_coding
OMIM	610548
Entrez	9716

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 12 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000156471, ENST00000543879, ENST00000558202, ENST00000559090, ENST00000559767, ENST00000560117, ENST00000875391, ENST00000875392, ENST00000875393, ENST00000875394, ENST00000875395, ENST00000911767, ENST00000911768, ENST00000911769, ENST00000945427, ENST00000945428

RefSeq mRNA: 1 — MANE Select: NM_014691 NM_014691

CCDS: CCDS42013

Canonical transcript exons

ENST00000156471 — 35 exons

Exon	Start	End
ENSE00000334741	34915038	34915179
ENSE00000334743	34906545	34906712
ENSE00000674483	34873828	34873999
ENSE00000674484	34874677	34874864
ENSE00000674570	34910135	34910313
ENSE00000674572	34918258	34918378
ENSE00000674605	34930258	34930371
ENSE00000674608	34932318	34932434
ENSE00000674618	34942012	34942080
ENSE00000881220	34964234	34964290
ENSE00001099430	34938737	34938813
ENSE00001099435	34927035	34927138
ENSE00001099438	34920332	34920434
ENSE00001099443	34948264	34948384
ENSE00001099446	34934571	34934635
ENSE00001099460	34944288	34944428
ENSE00001099465	34940899	34940999
ENSE00001197624	34851782	34857106
ENSE00002318709	34969539	34969742
ENSE00003474421	34890215	34890324
ENSE00003477910	34886526	34886661
ENSE00003485246	34897559	34897705
ENSE00003495429	34904336	34904505
ENSE00003496762	34896897	34896966
ENSE00003498545	34893663	34893773
ENSE00003516270	34875935	34876006
ENSE00003549683	34952885	34952920
ENSE00003592833	34862867	34863041
ENSE00003595909	34860042	34860155
ENSE00003596972	34884525	34884734
ENSE00003605173	34867524	34867609
ENSE00003622064	34900622	34900863
ENSE00003640089	34960774	34960814
ENSE00003652034	34882502	34882639
ENSE00003689669	34870752	34870922

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 92.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.0767 / max 260.2594, expressed in 1813 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149302	17.5845	1802
149304	3.3881	1451
149303	1.5076	1003
149301	0.5839	316
149300	0.0126	4

Top tissues by expression

297 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.75	gold quality
calcaneal tendon	UBERON:0003701	92.04	gold quality
secondary oocyte	CL:0000655	90.90	gold quality
lower esophagus mucosa	UBERON:0035834	89.77	gold quality
ventricular zone	UBERON:0003053	89.67	gold quality
adrenal tissue	UBERON:0018303	89.53	gold quality
tendon	UBERON:0000043	88.13	gold quality
right testis	UBERON:0004534	88.10	gold quality
oocyte	CL:0000023	88.07	gold quality
skin of leg	UBERON:0001511	88.06	gold quality
sperm	CL:0000019	87.98	gold quality
lower lobe of lung	UBERON:0008949	87.92	gold quality
male germ cell	CL:0000015	87.90	gold quality
left testis	UBERON:0004533	87.76	gold quality
esophagus mucosa	UBERON:0002469	87.73	gold quality
skin of abdomen	UBERON:0001416	87.63	gold quality
ectocervix	UBERON:0012249	87.60	gold quality
tonsil	UBERON:0002372	87.43	gold quality
bone marrow cell	CL:0002092	87.40	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.38	gold quality
monocyte	CL:0000576	87.38	gold quality
mononuclear cell	CL:0000842	87.38	gold quality
leukocyte	CL:0000738	87.36	gold quality
bone marrow	UBERON:0002371	87.29	gold quality
zone of skin	UBERON:0000014	87.11	gold quality
testis	UBERON:0000473	86.96	gold quality
mucosa of transverse colon	UBERON:0004991	86.79	gold quality
vagina	UBERON:0000996	86.63	gold quality
ganglionic eminence	UBERON:0004023	86.62	gold quality
minor salivary gland	UBERON:0001830	86.61	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.86
E-CURD-10	no	723.23

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

40 targeting AQR, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-4645-3P	99.76	69.33	993
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-7844-5P	99.55	68.56	1428
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-542-3P	99.34	67.58	1270
HSA-MIR-580-5P	99.28	70.94	1776
HSA-MIR-6734-3P	99.15	66.27	1627
HSA-MIR-4520-2-3P	99.14	69.28	1009
HSA-MIR-877-3P	99.09	68.10	1637
HSA-MIR-376A-3P	99.06	69.17	1128
HSA-MIR-376B-3P	99.06	69.17	1128

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.8% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 1)

• Our study suggests that AQR is a novel type 2 diabetes-associated gene that regulates signaling pathways critical for glucose metabolism. (PMID:29502958)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	aqr	ENSDARG00000016775
mus_musculus	Aqr	ENSMUSG00000040383
rattus_norvegicus	Aqr	ENSRNOG00000008912
drosophila_melanogaster	CG31368	FBGN0051368
caenorhabditis_elegans		WBGENE00001258

Paralogs (10): UPF1 (ENSG00000005007), MOV10L1 (ENSG00000073146), SETX (ENSG00000107290), ZNFX1 (ENSG00000124201), HELZ2 (ENSG00000130589), IGHMBP2 (ENSG00000132740), DNA2 (ENSG00000138346), MOV10 (ENSG00000155363), CT55 (ENSG00000169551), HELZ (ENSG00000198265)

Protein

Protein identifiers

RNA helicase aquarius — O60306 (reviewed: O60306)

Alternative names: Intron-binding protein of 160 kDa

All UniProt accessions (3): O60306, H0YH15, H0YLN9

UniProt curated annotations — full annotation on UniProt →

Function. Involved in pre-mRNA splicing as component of the spliceosome. Intron-binding spliceosomal protein required to link pre-mRNA splicing and snoRNP (small nucleolar ribonucleoprotein) biogenesis. Plays a key role in position-dependent assembly of intron-encoded box C/D small snoRNP, splicing being required for snoRNP assembly. May act by helping the folding of the snoRNA sequence. Binds to intron of pre-mRNAs in a sequence-independent manner, contacting the region between snoRNA and the branchpoint of introns (40 nucleotides upstream of the branchpoint) during the late stages of splicing. Has ATP-dependent RNA helicase activity and can unwind double-stranded RNA molecules with a 3’ overhang (in vitro).

Subunit / interactions. Identified in the spliceosome C complex. Component of the XAB2 complex, a multimeric protein complex composed of XAB2, PRPF19, AQR, ZNF830, ISY1, and PPIE. Identified in a pentameric intron-binding (IB) complex composed of AQR, XAB2, ISY1, ZNF830 and PPIE that is incorporated into the spliceosome as a preassembled complex. The IB complex does not contain PRPF19. Within the spliceosome, interacts with SNRPA1, SF3B1, SF3B3, SF3A1 and SF3A2.

Subcellular location. Nucleus. Nucleoplasm.

Domain organisation. Contains an N-terminal domain with structural similarity to ARM repeat regions; this domain functions as a scaffold for protein-protein interactions, but is not required for RNA binding or for ATP-dependent RNA helicase activity.

Similarity. Belongs to the CWF11 family.

RefSeq proteins (1): NP_055506* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026300	CWF11_fam	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR032174	Aquarius_N	Domain
IPR041677	DNA2/NAM7_AAA_11	Domain
IPR041679	DNA2/NAM7-like_C	Domain
IPR045055	DNA2/NAM7-like	Family
IPR047187	SF1_C_Upf1	Domain
IPR048966	Aquarius_b-barrel	Domain
IPR048967	Aquarius_insert	Domain

Pfam: PF13086, PF13087, PF16399, PF21143, PF21144

Enzyme classification (BRENDA):

• EC 3.6.4.13 — RNA helicase (BRENDA: 3 organisms, 3 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 1 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (126 total): helix 70, strand 34, turn 9, region of interest 3, binding site 3, mutagenesis site 2, sequence conflict 2, chain 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

27 structures.

PDB	Method	Resolution (Å)
4PJ3	X-RAY DIFFRACTION	2.3
8C6J	ELECTRON MICROSCOPY	2.8
6ID1	ELECTRON MICROSCOPY	2.86
6ID0	ELECTRON MICROSCOPY	2.9
6ICZ	ELECTRON MICROSCOPY	3
8I0R	ELECTRON MICROSCOPY	3
8I0T	ELECTRON MICROSCOPY	3
8I0V	ELECTRON MICROSCOPY	3
6QDV	ELECTRON MICROSCOPY	3.3
8I0U	ELECTRON MICROSCOPY	3.3
9FMD	ELECTRON MICROSCOPY	3.3
8I0P	ELECTRON MICROSCOPY	3.4
8I0W	ELECTRON MICROSCOPY	3.4
8RO2	ELECTRON MICROSCOPY	3.5
5XJC	ELECTRON MICROSCOPY	3.6
7W59	ELECTRON MICROSCOPY	3.6
7W5A	ELECTRON MICROSCOPY	3.6
5YZG	ELECTRON MICROSCOPY	4.1
8I0S	ELECTRON MICROSCOPY	4.2
7W5B	ELECTRON MICROSCOPY	4.3
6FF7	ELECTRON MICROSCOPY	4.5
7A5P	ELECTRON MICROSCOPY	5
5Z56	ELECTRON MICROSCOPY	5.1
5MQF	ELECTRON MICROSCOPY	5.9
8CH6	ELECTRON MICROSCOPY	5.9
5Z57	ELECTRON MICROSCOPY	6.5
7ABI	ELECTRON MICROSCOPY	8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60306-F1	84.53	0.56

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (3): 801; 806; 826–831

Post-translational modifications (1): 1051

Mutagenesis-validated functional residues (2):

Position	Phenotype
1196	strongly reduced rna helicase activity. no effect on atpase activity. no effect on spliceosomal pre-mrna splicing.
829	decreased affinity for atp and adp. loss of rna helicase activity. disrupts spliceosomal pre-mrna splicing and leads to

Function

Pathways and Gene Ontology

Reactome pathways

11 pathways

ID	Pathway
R-HSA-6781823	Formation of TC-NER Pre-Incision Complex
R-HSA-6781827	Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-6782135	Dual incision in TC-NER
R-HSA-6782210	Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-72163	mRNA Splicing - Major Pathway
R-HSA-9918481	Dengue Virus-Host Interactions
R-HSA-5696398	Nucleotide Excision Repair
R-HSA-72172	mRNA Splicing
R-HSA-72203	Processing of Capped Intron-Containing Pre-mRNA
R-HSA-73894	DNA Repair
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 0 (showing top):

GO Biological Process (3): mRNA splicing, via spliceosome (GO:0000398), mRNA processing (GO:0006397), RNA splicing (GO:0008380)

GO Molecular Function (11): RNA binding (GO:0003723), single-stranded RNA binding (GO:0003727), mRNA binding (GO:0003729), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), 3’-5’ RNA helicase activity (GO:0034458), nucleotide binding (GO:0000166), RNA helicase activity (GO:0003724), helicase activity (GO:0004386), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), membrane (GO:0016020), U2-type catalytic step 2 spliceosome (GO:0071007), catalytic step 2 spliceosome (GO:0071013), spliceosomal complex (GO:0005681)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
Transcription-Coupled Nucleotide Excision Repair (TC-NER)	3
Nucleotide Excision Repair	1
mRNA Splicing	1
Dengue Virus Infection	1
DNA Repair	1
Processing of Capped Intron-Containing Pre-mRNA	1
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
RNA binding	2
ATP-dependent activity	2
cellular anatomical structure	2
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
mRNA metabolic process	1
nucleic acid binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
RNA helicase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
helicase activity	1
ATP-dependent activity, acting on RNA	1
catalytic activity, acting on RNA	1
nucleic acid conformation isomerase activity	1
catalytic activity, acting on a nucleic acid	1
binding	1
catalytic activity	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
U2-type spliceosomal complex	1
U2 snRNP	1
U6 snRNP	1
catalytic step 2 spliceosome	1
Prp19 complex	1
spliceosomal complex	1
U5 snRNP	1
catalytic complex	1
nuclear protein-containing complex	1
ribonucleoprotein complex	1

Protein interactions and networks

STRING

1572 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AQR	XAB2	Q9HCS7	799
AQR	ZNF830	Q96NB3	753
AQR	PRPF19	Q9UMS4	742
AQR	CRNKL1	Q9BZJ0	726
AQR	EIF4A3	P38919	697
AQR	PPIE	Q9UNP9	649
AQR	CDC5L	Q99459	537
AQR	SRRM1	Q8IYB3	521
AQR	DDX5	P17844	517
AQR	RNPS1	Q15287	507
AQR	WDR44	Q5JSH3	499
AQR	EFTUD2	Q15029	479
AQR	SF3B3	Q15393	427
AQR	CLEC16A	Q2KHT3	409
AQR	LSM5	Q9Y4Y9	401

IntAct

209 interactions, top by confidence:

A	B	Type	Score
SNRPF	GEMIN2	psi-mi:“MI:0914”(association)	0.910
CDK8	MED19	psi-mi:“MI:2364”(proximity)	0.850
PPIE	AQR	psi-mi:“MI:0915”(physical association)	0.810
AQR	PPIE	psi-mi:“MI:0407”(direct interaction)	0.810
PPIE	AQR	psi-mi:“MI:0407”(direct interaction)	0.810
PPIE	AQR	psi-mi:“MI:0914”(association)	0.810
PRPF19	AQR	psi-mi:“MI:0914”(association)	0.790
PRPF19	PLRG1	psi-mi:“MI:0914”(association)	0.770
SNRPE	GEMIN2	psi-mi:“MI:0914”(association)	0.770
AQR	ZNF830	psi-mi:“MI:0407”(direct interaction)	0.760
AQR	ZNF830	psi-mi:“MI:0915”(physical association)	0.760
AQR	ZNF830	psi-mi:“MI:0914”(association)	0.760
AQR	ISY1	psi-mi:“MI:0407”(direct interaction)	0.740
AQR	XAB2	psi-mi:“MI:0407”(direct interaction)	0.740
ISY1	AQR	psi-mi:“MI:0914”(association)	0.740
SYF2	AQR	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710

BioGRID (281): AQR (Affinity Capture-RNA), AQR (Affinity Capture-RNA), AQR (Affinity Capture-MS), AQR (Affinity Capture-MS), AQR (Affinity Capture-MS), AQR (Affinity Capture-MS), AQR (Affinity Capture-MS), AQR (Affinity Capture-MS), AQR (Affinity Capture-MS), AQR (Affinity Capture-MS), AQR (Affinity Capture-MS), AQR (Affinity Capture-MS), AQR (Affinity Capture-MS), AQR (Affinity Capture-MS), AQR (Affinity Capture-MS)

ESM2 similar proteins: A2QVS9, A3LS77, A4IFD8, A5E7T4, A8WRG3, A8XYX2, C8V3W5, F4JRS4, F4KAF2, J9VI03, O45380, O60306, O82486, O89042, O94268, P0CO28, P0CO29, P13382, P25583, P32335, P33294, P97496, Q04089, Q2HVD6, Q3UIK4, Q5ADX5, Q5K2C1, Q5K2C4, Q5R5N4, Q5ZK35, Q62847, Q66KJ9, Q6FKD6, Q6FPQ3, Q6FWI7, Q6NU56, Q6NZ22, Q756E1, Q7SB74, Q7YZT6

Diamond homologs: F1RCY6, O60306, O74465, Q8CFQ3, Q8R151, Q92900, Q9EPU0, Q9P2E3, E9P860, O76512, Q9FJR0, P23249, P30771, Q09820, Q0V8H6, Q0VGT4, Q1LXK4, Q1LXK5, Q5ZKD7, Q6J5K9, Q86YA3, Q8GYD9, Q99MV5, Q9BXT6, Q9HCE1, Q9HEH1, Q9VYS3, A0A0R4IBK5, E9Q555, O94387, Q54I89, Q63HN8, Q86AS0, Q92355, Q98TR3, B6SFA4, D3ZG52, E1BMP7, E9QAM5, F6QXW0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 156 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Metabolism of non-coding RNA	6	33.1×	7e-07
mRNA Splicing	31	29.6×	7e-36
RNA Polymerase II Transcription Termination	13	24.8×	2e-13
mRNA Splicing - Major Pathway	51	24.2×	1e-56
Processing of Capped Intron-Containing Pre-mRNA	33	23.6×	7e-35
mRNA 3’-end processing	12	20.6×	2e-11
Transport of Mature Transcript to Cytoplasm	6	19.9×	1e-05
mRNA Splicing - Minor Pathway	10	19.5×	4e-09

GO biological processes:

GO term	Partners	Fold	FDR
U2-type prespliceosome assembly	12	55.5×	2e-16
spliceosomal snRNP assembly	8	34.4×	9e-09
RNA splicing, via transesterification reactions	7	32.4×	2e-07
mRNA splicing, via spliceosome	43	29.2×	3e-49
negative regulation of mRNA splicing, via spliceosome	5	28.4×	4e-05
spliceosomal complex assembly	6	26.8×	6e-06
RNA splicing	28	18.3×	4e-25
mRNA export from nucleus	7	15.3×	2e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

170 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	131
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

6022 predictions. Top by Δscore:

Variant	Effect	Δscore
15:34856742:A:AC	donor_gain	1.0000
15:34856743:C:CC	donor_gain	1.0000
15:34856746:A:AC	donor_gain	1.0000
15:34856747:G:C	donor_gain	1.0000
15:34856768:T:TA	donor_gain	1.0000
15:34860037:CTCA:C	donor_loss	1.0000
15:34860038:TCAC:T	donor_loss	1.0000
15:34860039:CAC:C	donor_loss	1.0000
15:34860040:A:AC	donor_gain	1.0000
15:34860040:AC:A	donor_gain	1.0000
15:34860041:C:CT	donor_gain	1.0000
15:34860041:CC:C	donor_gain	1.0000
15:34860041:CCT:C	donor_gain	1.0000
15:34860041:CCTG:C	donor_gain	1.0000
15:34860041:CCTGA:C	donor_gain	1.0000
15:34860151:CCATT:C	acceptor_gain	1.0000
15:34860152:CATT:C	acceptor_gain	1.0000
15:34860152:CATTC:C	acceptor_gain	1.0000
15:34860153:ATT:A	acceptor_gain	1.0000
15:34860154:TT:T	acceptor_gain	1.0000
15:34860155:TCTAG:T	acceptor_loss	1.0000
15:34860156:C:CC	acceptor_gain	1.0000
15:34860157:T:G	acceptor_loss	1.0000
15:34863040:CCCTT:C	acceptor_gain	1.0000
15:34863041:CCTT:C	acceptor_gain	1.0000
15:34867520:GTACC:G	donor_loss	1.0000
15:34867521:TACC:T	donor_loss	1.0000
15:34867610:CTA:C	acceptor_loss	1.0000
15:34867611:T:A	acceptor_loss	1.0000
15:34874005:C:CT	acceptor_gain	1.0000

AlphaMissense

9855 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:34862949:A:G	L1316P	1.000
15:34862994:A:G	L1301P	1.000
15:34862997:C:T	G1300E	1.000
15:34863006:G:T	A1297D	1.000
15:34863009:C:A	R1296I	1.000
15:34863009:C:G	R1296T	1.000
15:34863012:G:A	S1295F	1.000
15:34863018:G:T	A1293D	1.000
15:34863021:A:T	V1292E	1.000
15:34863031:G:T	R1289S	1.000
15:34867524:C:A	R1285M	1.000
15:34867524:C:G	R1285T	1.000
15:34867531:G:C	H1283D	1.000
15:34867533:C:T	G1282D	1.000
15:34867534:C:G	G1282R	1.000
15:34867585:C:G	G1265R	1.000
15:34867586:T:A	Q1264H	1.000
15:34867586:T:G	Q1264H	1.000
15:34867595:A:C	D1261E	1.000
15:34867595:A:T	D1261E	1.000
15:34867596:T:A	D1261V	1.000
15:34867596:T:C	D1261G	1.000
15:34867596:T:G	D1261A	1.000
15:34867597:C:G	D1261H	1.000
15:34867599:A:T	V1260D	1.000
15:34870813:A:G	L1236P	1.000
15:34870821:T:A	Q1233H	1.000
15:34870821:T:G	Q1233H	1.000
15:34870825:C:T	G1232D	1.000
15:34870826:C:G	G1232R	1.000

dbSNP variants (sampled 300 via entrez): RS1000038535 (15:34901284 C>T), RS1000039319 (15:34904799 T>A), RS1000091961 (15:34901630 A>G), RS1000098142 (15:34898243 G>T), RS1000117249 (15:34852414 G>A), RS1000123959 (15:34920171 G>A,C), RS1000161417 (15:34878979 G>C), RS1000176607 (15:34940203 A>G), RS1000183674 (15:34923293 T>A,C), RS1000190109 (15:34959427 C>T), RS1000246314 (15:34966903 G>A), RS1000250577 (15:34851300 A>T), RS1000255785 (15:34923588 C>T), RS1000259227 (15:34924871 A>G), RS1000301406 (15:34889024 T>G)

Disease associations

OMIM: gene MIM:610548 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

34 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	3
bisphenol A	decreases expression, decreases methylation	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
2,4,6-tribromophenol	increases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
tetrabromobisphenol A	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
arsenic disulfide	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Acetaminophen	increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases expression	1
Carbamazepine	affects expression	1
Diclofenac	affects expression	1
Dinitrochlorobenzene	affects binding	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Plant Extracts	affects cotreatment, increases expression	1
Ribonucleotides	affects binding	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.