DDX10

Summary

DDX10 (DEAD-box helicase 10, HGNC:2735) is a protein-coding gene on chromosome 11q22.3, encoding Probable ATP-dependent RNA helicase DDX10 (Q13206). Putative ATP-dependent RNA helicase that plays various role in innate immunity or inflammation. It is a common-essential gene (DepMap: required in 99.9% of cancer cell lines).

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies.

Source: NCBI Gene 1662 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 156 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 99.9% of screened cell lines (common-essential)
• MANE Select transcript: NM_004398

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2735
Approved symbol	DDX10
Name	DEAD-box helicase 10
Location	11q22.3
Locus type	gene with protein product
Status	Approved
Aliases	HRH-J8, Dbp4
Ensembl gene	ENSG00000178105
Ensembl biotype	protein_coding
OMIM	601235
Entrez	1662

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 8 protein_coding_CDS_not_defined, 6 protein_coding, 6 nonsense_mediated_decay, 4 retained_intron

ENST00000322536, ENST00000524979, ENST00000526794, ENST00000530116, ENST00000533198, ENST00000534221, ENST00000534439, ENST00000534774, ENST00000648124, ENST00000686283, ENST00000686617, ENST00000687072, ENST00000688536, ENST00000688583, ENST00000688976, ENST00000689812, ENST00000690021, ENST00000690056, ENST00000690248, ENST00000692839, ENST00000693015, ENST00000940623, ENST00000940624, ENST00000940625

RefSeq mRNA: 1 — MANE Select: NM_004398 NM_004398

CCDS: CCDS8342

Canonical transcript exons

ENST00000322536 — 18 exons

Exon	Start	End
ENSE00001005159	108693516	108693600
ENSE00001005161	108675596	108675726
ENSE00001102064	108852153	108852209
ENSE00001224190	108722997	108723462
ENSE00001224211	108706739	108706837
ENSE00001224552	108677085	108677243
ENSE00001291421	108679371	108679560
ENSE00001295492	108715879	108715966
ENSE00001307885	108688936	108689062
ENSE00001309598	108678315	108678435
ENSE00001317728	108691876	108692038
ENSE00001325848	108719797	108719885
ENSE00002169559	108940246	108940927
ENSE00003458917	108917873	108918018
ENSE00003504574	108673467	108673527
ENSE00003595129	108838446	108838565
ENSE00003634919	108841315	108841476
ENSE00003837372	108665069	108665339

Expression profiles

Bgee: expression breadth ubiquitous, 261 present calls, max score 92.81.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.2792 / max 354.5567, expressed in 1808 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116536	17.0481	1800
116550	1.6067	297
116549	0.5740	156
116548	0.4444	132
116537	0.3892	182
116538	0.1347	58
116547	0.0614	29
116546	0.0208	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	92.81	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.40	gold quality
calcaneal tendon	UBERON:0003701	91.42	gold quality
right testis	UBERON:0004534	89.77	gold quality
left testis	UBERON:0004533	89.69	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.22	gold quality
cortical plate	UBERON:0005343	89.08	gold quality
testis	UBERON:0000473	89.04	gold quality
ganglionic eminence	UBERON:0004023	88.63	gold quality
ventricular zone	UBERON:0003053	88.19	gold quality
nephron tubule	UBERON:0001231	88.18	gold quality
left uterine tube	UBERON:0001303	88.04	gold quality
right frontal lobe	UBERON:0002810	87.84	gold quality
adult mammalian kidney	UBERON:0000082	87.37	gold quality
adrenal tissue	UBERON:0018303	87.35	gold quality
right ovary	UBERON:0002118	86.53	gold quality
tibial nerve	UBERON:0001323	86.52	gold quality
body of pancreas	UBERON:0001150	86.50	gold quality
Brodmann (1909) area 9	UBERON:0013540	86.49	gold quality
islet of Langerhans	UBERON:0000006	86.34	gold quality
ectocervix	UBERON:0012249	86.30	gold quality
left ovary	UBERON:0002119	86.28	gold quality
embryo	UBERON:0000922	86.26	gold quality
mucosa of transverse colon	UBERON:0004991	86.24	gold quality
prefrontal cortex	UBERON:0000451	86.15	gold quality
body of uterus	UBERON:0009853	86.11	gold quality
cerebellar hemisphere	UBERON:0002245	85.89	gold quality
cerebellar cortex	UBERON:0002129	85.76	gold quality
colonic epithelium	UBERON:0000397	85.69	gold quality
lower esophagus mucosa	UBERON:0035834	85.64	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-7316	yes	21.95
E-ANND-3	yes	5.46
E-GEOD-137537	yes	4.01
E-MTAB-7303	no	135.49
E-MTAB-7008	no	133.58

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting DDX10, 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-4795-3P	100.00	74.62	4024
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-4696	99.48	67.48	1040
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-561-5P	98.25	68.13	1365
HSA-MIR-4518	98.12	66.82	1030
HSA-MIR-1266-5P	97.71	66.92	1052
HSA-MIR-1270	96.94	66.65	931
HSA-MIR-620	96.94	66.79	888
HSA-MIR-6082	96.40	70.86	216
HSA-MIR-5579-5P	96.32	68.54	730
HSA-MIR-3675-5P	95.90	65.80	474
HSA-MIR-3914	94.91	65.77	643
HSA-MIR-4474-5P	94.23	67.95	568
HSA-MIR-6761-3P	77.17	65.96	50

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.9% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 9)

• The 50S U3 snoRNP is an small subunit assembly intermediate that is likely recruited to the pre-rRNA through the RNA-binding proteins nucleolin and RRP5.[RRP5, DBP4] (PMID:19332556)
• A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. (PMID:22360420)
• Taken together, in current study, we found a novel tumor suppressor, DDX10, is epigenetic silenced by miR-155-5p in ovarian cancer, and the down-regulated expression pattern of DDX10 promotes ovarian cancer proliferation through Akt/NF-kappaB pathway. (PMID:26713367)
• Up-regulation of DDX10 involves in poor prognosis in osteosarcoma (OS) patients and knockdown of DDX10 inhibits cell proliferation in OS. Down-regulation of DDX10 suppressed cell proliferation, invasion and migration in osteosarcoma, which might be regulated by MAPK signalling pathway. (PMID:30738579)
• [DDX10 promotes AIM2-inflammasome activation by maintaining AIM2 protein stability]. (PMID:32519665)
• DEAD-box RNA helicase Dbp4/DDX10 is an enhancer of alpha-synuclein toxicity and oligomerization. (PMID:33657088)
• DDX10 promotes human lung carcinoma proliferation by U3 small nucleolar ribonucleoprotein IMP4. (PMID:33973712)
• DDX10 and BYSL as the potential targets of chondrosarcoma and glioma. (PMID:34797290)
• The rRNA-processing function of the yeast U14 small nucleolar RNA can be rescued by a conserved RNA helicase-like protein. (PMID:9199348)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ddx10	ENSDARG00000061865
mus_musculus	Ddx10	ENSMUSG00000053289
rattus_norvegicus	Ddx10	ENSRNOG00000012500
drosophila_melanogaster	CG5800	FBGN0030855
caenorhabditis_elegans	ddx-10	WBGENE00021277

Paralogs (38): DDX20 (ENSG00000064703), DDX3Y (ENSG00000067048), DDX1 (ENSG00000079785), DDX43 (ENSG00000080007), DDX18 (ENSG00000088205), DDX24 (ENSG00000089737), DDX17 (ENSG00000100201), DDX49 (ENSG00000105671), DDX50 (ENSG00000107625), DDX5 (ENSG00000108654), DDX25 (ENSG00000109832), DDX6 (ENSG00000110367), DDX55 (ENSG00000111364), DDX59 (ENSG00000118197), DDX54 (ENSG00000123064), DDX39A (ENSG00000123136), DDX27 (ENSG00000124228), DDX31 (ENSG00000125485), DDX56 (ENSG00000136271), EIF4A3 (ENSG00000141543), DDX46 (ENSG00000145833), DDX4 (ENSG00000152670), EIF4A2 (ENSG00000156976), DDX19B (ENSG00000157349), EIF4A1 (ENSG00000161960), DDX21 (ENSG00000165732), DDX19A (ENSG00000168872), TDRD12 (ENSG00000173809), DDX23 (ENSG00000174243), DDX28 (ENSG00000182810), DDX41 (ENSG00000183258), DDX53 (ENSG00000184735), DDX51 (ENSG00000185163), DDX42 (ENSG00000198231), DDX39B (ENSG00000198563), DDX47 (ENSG00000213782), DDX3X (ENSG00000215301), DDX52 (ENSG00000278053)

Protein

Protein identifiers

Probable ATP-dependent RNA helicase DDX10 — Q13206 (reviewed: Q13206)

Alternative names: DEAD box protein 10

All UniProt accessions (8): A0A3B3ISR7, A0A8I5KPM1, A0A8I5KQZ1, A0A8I5KSH6, A0A8I5KUU7, A0A8I5KXY1, E9PIF2, Q13206

UniProt curated annotations — full annotation on UniProt →

Function. Putative ATP-dependent RNA helicase that plays various role in innate immunity or inflammation. Plays a role in the enhancement of AIM2-induced inflammasome activation by interacting with AIM2 and stabilizing its protein level. Negatively regulates viral infection by promoting interferon beta production and interferon stimulated genes/ISGs expression.

Subunit / interactions. Interacts with AIM2; this interaction promotes AIM2 stability. Interacts with SCNA; this interaction causes DDX10 mislocalization to the nucleoplasm and cytoplasmic inclusions.

Subcellular location. Cytoplasm. Nucleus. Nucleolus.

Tissue specificity. High in testis but widely expressed.

Domain organisation. The Q motif is unique to and characteristic of the DEAD box family of RNA helicases and controls ATP binding and hydrolysis.

Similarity. Belongs to the DEAD box helicase family. DDX10/DBP4 subfamily.

RefSeq proteins (1): NP_004389* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000629	RNA-helicase_DEAD-box_CS	Conserved_site
IPR001650	Helicase_C-like	Domain
IPR011545	DEAD/DEAH_box_helicase_dom	Domain
IPR014001	Helicase_ATP-bd	Domain
IPR014014	RNA_helicase_DEAD_Q_motif	Domain
IPR025313	SPB4-like_CTE	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily

Pfam: PF00270, PF00271, PF13959

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (55 total): helix 13, compositionally biased region 9, modified residue 7, strand 7, binding site 3, sequence conflict 3, region of interest 3, turn 3, domain 2, short sequence motif 2, chain 1, cross-link 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2PL3	X-RAY DIFFRACTION	2.15

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13206-F1	70.85	0.32

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): 89–91; 96; 113–120

Post-translational modifications (8): 4, 7, 539, 555, 577, 780, 831, 649

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 139 (showing top): GOBP_RIBOSOME_BIOGENESIS, chr11q22, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, BROWNE_HCMV_INFECTION_16HR_UP, HASLINGER_B_CLL_WITH_11Q23_DELETION, MODULE_229, PUJANA_CHEK2_PCC_NETWORK, WEI_MYCN_TARGETS_WITH_E_BOX, SCHUHMACHER_MYC_TARGETS_UP, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, ZHAN_V2_LATE_DIFFERENTIATION_GENES, MYLLYKANGAS_AMPLIFICATION_HOT_SPOT_23, GOBP_HEAD_DEVELOPMENT, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN

GO Biological Process (2): rRNA processing (GO:0006364), anterior head development (GO:0097065)

GO Molecular Function (9): RNA binding (GO:0003723), RNA helicase activity (GO:0003724), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), helicase activity (GO:0004386), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (3): nucleus (GO:0005634), nucleolus (GO:0005730), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ATP-dependent activity	2
binding	2
RNA processing	1
rRNA metabolic process	1
ribosome biogenesis	1
head development	1
nucleic acid binding	1
helicase activity	1
ATP-dependent activity, acting on RNA	1
catalytic activity, acting on RNA	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
nucleic acid conformation isomerase activity	1
catalytic activity, acting on a nucleic acid	1
catalytic activity	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

3873 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DDX10	NUP98	P52948	826
DDX10	PDCD11	Q14690	825
DDX10	RAP1GDS1	P52306	751
DDX10	PSIP1	O75475	734
DDX10	NSD1	Q96L73	731
DDX10	ABT1	Q9ULW3	724
DDX10	PHF23	Q9BUL5	689
DDX10	DHX15	O43143	663
DDX10	PRRX1	P54821	657
DDX10	HOXC13	P31276	635
DDX10	ADD3	Q9UEY8	625
DDX10	HOXD13	P35453	621
DDX10	HOXA9	P31269	609
DDX10	NSD3	Q9BZ95	604
DDX10	TOP1	P11387	601

IntAct

182 interactions, top by confidence:

A	B	Type	Score
CDK8	MED19	psi-mi:“MI:2364”(proximity)	0.850
rep	MPHOSPH10	psi-mi:“MI:0914”(association)	0.660
NOP53	RRP8	psi-mi:“MI:0914”(association)	0.640
NOL12	RRP8	psi-mi:“MI:0914”(association)	0.640
BYSL	PARN	psi-mi:“MI:0914”(association)	0.640
SRFBP1	DDX10	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
NPM1	MPHOSPH10	psi-mi:“MI:0914”(association)	0.610
DDX10	RPL23A	psi-mi:“MI:0915”(physical association)	0.560
EED	EPOP	psi-mi:“MI:0914”(association)	0.530
H1-6	ZNF724	psi-mi:“MI:0914”(association)	0.530
RBM34	NVL	psi-mi:“MI:0914”(association)	0.530
H1-4	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
RPL37A	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
ZNF2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
RPL18	NOP56	psi-mi:“MI:0914”(association)	0.530
RPL30	RRP8	psi-mi:“MI:0914”(association)	0.530
RPL18A	RRP8	psi-mi:“MI:0914”(association)	0.530
N	NOP56	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
RPS3	ZNF316	psi-mi:“MI:0914”(association)	0.530
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
MAGEB2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
RPS2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
ABT1	ZNF316	psi-mi:“MI:0914”(association)	0.530
NOL10	DDX10	psi-mi:“MI:0914”(association)	0.530

BioGRID (227): DDX10 (Affinity Capture-MS), DDX10 (Affinity Capture-MS), DDX10 (Affinity Capture-MS), DDX10 (Affinity Capture-MS), DDX10 (Affinity Capture-MS), DDX10 (Co-fractionation), DDX10 (Co-fractionation), DDX10 (Co-fractionation), DDX54 (Co-fractionation), PWP1 (Co-fractionation), DDX10 (Reconstituted Complex), DDX10 (Affinity Capture-MS), DDX10 (Affinity Capture-MS), DDX10 (Affinity Capture-MS), DDX10 (Affinity Capture-MS)

ESM2 similar proteins: A0A0P0WGX7, A1CTL8, A1DMT9, A2QWW0, A2XVF7, A3AVH5, A3GGE9, A4PBL4, A5DLF4, A5E3K3, A6R9U4, A6RSH5, A7F8V8, F4I9Q5, O80792, Q0CI35, Q0D622, Q0INC5, Q0J7Y8, Q13206, Q1E7Y4, Q1EB31, Q2H2J1, Q2UMY7, Q4HZ68, Q4IAS1, Q4IBS2, Q4WM60, Q4WMS3, Q5BCI0, Q5RDL2, Q6ATJ8, Q6C835, Q6H601, Q6K7R9, Q710E8, Q75C76, Q7RZH4, Q7Z478, Q8LMR2

Diamond homologs: A1CIQ5, A1CTZ2, A1CW14, A1DNF9, A2Q9T6, A2QS00, A2RB17, A3GGE9, A3LNR6, A4R8B5, A4RGU2, A5DID7, A5DLF4, A5E2Z9, A5E3K3, A6ZPU3, A7ESL8, A7TJ71, P0CQ82, P0CQ83, P0CQ84, P0CQ85, P0CQ92, P0CQ93, P20448, P34580, Q03532, Q09903, Q09916, Q0CMM5, Q0CZS8, Q0D622, Q0DBS1, Q0DBU5, Q0DLB9, Q0JL73, Q0UK12, Q0UMB9, Q0UR48, Q13206

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 178 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
Peptide chain elongation	30	32.0×	4e-36
Viral mRNA Translation	30	32.0×	4e-36
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	30	31.6×	5e-36
Selenocysteine synthesis	30	30.3×	1e-35
Eukaryotic Translation Termination	30	30.3×	1e-35
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	30	29.7×	2e-35
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	30	29.7×	2e-35
Formation of a pool of free 40S subunits	30	28.2×	1e-34

GO biological processes:

GO term	Partners	Fold	FDR
maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	9	38.9×	1e-10
cytoplasmic translation	31	36.8×	3e-38
negative regulation of DNA recombination	5	36.0×	1e-05
chromosome condensation	6	32.4×	2e-06
maturation of SSU-rRNA	5	24.6×	1e-04
ribosomal small subunit biogenesis	15	21.9×	3e-14
RNA splicing, via transesterification reactions	5	20.0×	2e-04
ribosomal large subunit biogenesis	7	19.9×	5e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	125
Likely benign	11
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

4661 predictions. Top by Δscore:

Variant	Effect	Δscore
11:108665339:GGT:G	donor_loss	1.0000
11:108665340:GTG:G	donor_loss	1.0000
11:108673461:TTCCA:T	acceptor_loss	1.0000
11:108673462:TCCA:T	acceptor_loss	1.0000
11:108673463:CCA:C	acceptor_loss	1.0000
11:108673464:CAGAT:C	acceptor_loss	1.0000
11:108673465:A:AC	acceptor_loss	1.0000
11:108673465:A:AG	acceptor_gain	1.0000
11:108673466:G:GC	acceptor_gain	1.0000
11:108673466:GAT:G	acceptor_gain	1.0000
11:108673466:GATA:G	acceptor_gain	1.0000
11:108673466:GATAA:G	acceptor_gain	1.0000
11:108673525:AAGG:A	donor_loss	1.0000
11:108673526:AG:A	donor_gain	1.0000
11:108673527:GG:G	donor_gain	1.0000
11:108673528:G:C	donor_loss	1.0000
11:108673528:G:GG	donor_gain	1.0000
11:108675586:A:AG	acceptor_gain	1.0000
11:108675586:AT:A	acceptor_gain	1.0000
11:108675586:ATGTT:A	acceptor_gain	1.0000
11:108675587:T:A	acceptor_gain	1.0000
11:108675587:T:G	acceptor_gain	1.0000
11:108675590:T:A	acceptor_gain	1.0000
11:108675593:CAG:C	acceptor_loss	1.0000
11:108675594:A:AG	acceptor_gain	1.0000
11:108675594:AG:A	acceptor_gain	1.0000
11:108675595:G:GG	acceptor_gain	1.0000
11:108675595:GG:G	acceptor_gain	1.0000
11:108675595:GGT:G	acceptor_gain	1.0000
11:108675595:GGTTT:G	acceptor_gain	1.0000

AlphaMissense

5844 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:108675695:G:A	G116E	1.000
11:108675700:G:C	G118R	1.000
11:108675701:G:A	G118D	1.000
11:108675701:G:T	G118V	1.000
11:108677152:C:A	P149H	1.000
11:108677158:G:C	R151T	1.000
11:108677158:G:T	R151I	1.000
11:108677159:A:C	R151S	1.000
11:108677159:A:T	R151S	1.000
11:108677160:G:A	E152K	1.000
11:108677161:A:T	E152V	1.000
11:108677164:T:C	L153P	1.000
11:108677188:T:C	L161P	1.000
11:108677227:T:C	L174P	1.000
11:108677236:G:A	G177D	1.000
11:108678365:C:G	C196W	1.000
11:108678370:C:A	P198Q	1.000
11:108678373:G:A	G199D	1.000
11:108678376:G:C	R200P	1.000
11:108678379:T:C	L201P	1.000
11:108678382:T:C	L202P	1.000
11:108679371:T:A	V220D	1.000
11:108679379:G:A	E223K	1.000
11:108679380:A:C	E223A	1.000
11:108679380:A:T	E223V	1.000
11:108679381:A:C	E223D	1.000
11:108679381:A:T	E223D	1.000
11:108679385:G:C	D225H	1.000
11:108679386:A:T	D225V	1.000
11:108679406:T:C	F232L	1.000

dbSNP variants (sampled 300 via entrez): RS1000007532 (11:108887958 T>C), RS1000016103 (11:108671857 A>C), RS1000019878 (11:108930837 G>A), RS1000030797 (11:108827672 C>A), RS1000042619 (11:108887757 A>T), RS1000043373 (11:108817955 G>A), RS1000053000 (11:108926680 A>G), RS1000063490 (11:108750436 T>A,C), RS1000086064 (11:108692614 G>T), RS1000108509 (11:108728504 C>T), RS1000115334 (11:108686797 T>A,C,G), RS1000118369 (11:108728805 C>G,T), RS1000120932 (11:108744030 G>A,C,T), RS1000122907 (11:108734961 T>A), RS1000138943 (11:108832929 A>C,G)

Disease associations

OMIM: gene MIM:601235 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): neurodevelopmental disorder (MONDO:0700092)

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST004881_6	Knee osteoarthritis	7.000000e-07
GCST007095_22	Systolic blood pressure	9.000000e-06
GCST007095_23	Systolic blood pressure	9.000000e-06
GCST007099_25	Systolic blood pressure	4.000000e-08
GCST012306_10	Bipolar disorder	7.000000e-06
GCST012490_510	Femur bone mineral density x serum urate levels interaction	4.000000e-08
GCST012490_66	Femur bone mineral density x serum urate levels interaction	5.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0004531	urate measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6196087 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases expression	4
Cyclosporine	increases expression	3
Arsenic	affects methylation, affects cotreatment, increases abundance, increases expression	2
Cisplatin	decreases expression, affects cotreatment	2
Estradiol	affects expression, increases expression	2
Tetrachlorodibenzodioxin	affects expression, decreases expression	2
Tretinoin	decreases expression, increases reaction	2
Valproic Acid	affects expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
afimoxifene	increases expression, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	increases methylation	1
coumarin	decreases phosphorylation	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
CGP 52608	affects binding, increases reaction	1
pyrimidifen	decreases expression	1
abrine	increases expression	1
pyrachlostrobin	increases expression	1
archazolid B	decreases expression	1
jinfukang	decreases expression, affects cotreatment	1
NSC 689534	affects binding, increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL6108030	Binding	Binding affinity to DDX10 human NCI-H460 cells incubated for 60 mins at 37 to 67 degreeC by CETSA assay	Modular Synthesis of Bioactive Selenoheterocycles for Efficient Cancer Therapy via Electrochemical Selenylation/Cyclization. — J Med Chem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice