DHX29

Summary

DHX29 (DExH-box helicase 29, HGNC:15815) is a protein-coding gene on chromosome 5q11.2, encoding ATP-dependent RNA helicase DHX29 (Q7Z478). ATP-binding RNA helicase involved in translation initiation. It is a selective cancer dependency (DepMap: 15.0% of cell lines).

This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein functions in translation initiation, and is specifically required for ribosomal scanning across stable mRNA secondary structures during initiation codon selection. This protein may also play a role in sensing virally derived cytosolic nucleic acids. Knockdown of this gene results in reduced protein translation and impaired proliferation of cancer cells.

Source: NCBI Gene 54505 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 38 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 15.0% of screened cell lines
• MANE Select transcript: NM_019030

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15815
Approved symbol	DHX29
Name	DExH-box helicase 29
Location	5q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000067248
Ensembl biotype	protein_coding
OMIM	612720
Entrez	54505

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 11 protein_coding, 2 retained_intron

ENST00000251636, ENST00000504778, ENST00000508346, ENST00000513447, ENST00000867272, ENST00000867273, ENST00000867274, ENST00000867275, ENST00000867276, ENST00000912930, ENST00000912931, ENST00000962095, ENST00000962096

RefSeq mRNA: 3 — MANE Select: NM_019030 NM_001345964, NM_001345965, NM_019030

CCDS: CCDS34158

Canonical transcript exons

ENST00000251636 — 27 exons

Exon	Start	End
ENSE00001261045	55283203	55283811
ENSE00002039745	55256055	55256540
ENSE00002068150	55307387	55307694
ENSE00003476212	55262630	55262932
ENSE00003484416	55270578	55270706
ENSE00003485512	55269413	55269637
ENSE00003504392	55294017	55294145
ENSE00003508753	55297285	55297398
ENSE00003510610	55274866	55275010
ENSE00003520336	55274614	55274731
ENSE00003523618	55272087	55272175
ENSE00003524168	55277106	55277282
ENSE00003524374	55290218	55290344
ENSE00003531826	55298591	55298664
ENSE00003556319	55261368	55261499
ENSE00003585303	55270412	55270487
ENSE00003598324	55281372	55281515
ENSE00003600743	55285696	55285861
ENSE00003602793	55295379	55295524
ENSE00003607780	55289270	55289428
ENSE00003619880	55259848	55259944
ENSE00003633316	55273293	55273377
ENSE00003634001	55267138	55267231
ENSE00003639425	55267686	55267822
ENSE00003640177	55296220	55296349
ENSE00003681956	55285293	55285416
ENSE00003684841	55276266	55276406

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 94.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.8998 / max 207.6385, expressed in 1800 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
61692	17.8998	1800

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
esophagus squamous epithelium	UBERON:0006920	94.42	gold quality
palpebral conjunctiva	UBERON:0001812	94.30	gold quality
secondary oocyte	CL:0000655	94.06	gold quality
visceral pleura	UBERON:0002401	93.15	gold quality
seminal vesicle	UBERON:0000998	92.98	gold quality
parietal pleura	UBERON:0002400	92.84	gold quality
tibia	UBERON:0000979	92.69	gold quality
germinal epithelium of ovary	UBERON:0001304	92.59	gold quality
biceps brachii	UBERON:0001507	92.58	gold quality
gingiva	UBERON:0001828	92.58	gold quality
eye	UBERON:0000970	92.49	gold quality
pleura	UBERON:0000977	92.40	gold quality
gingival epithelium	UBERON:0001949	92.39	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	91.90	gold quality
calcaneal tendon	UBERON:0003701	91.35	gold quality
epithelium of esophagus	UBERON:0001976	91.10	gold quality
amniotic fluid	UBERON:0000173	90.95	gold quality
epithelium of nasopharynx	UBERON:0001951	90.62	gold quality
trabecular bone tissue	UBERON:0002483	90.47	gold quality
oral cavity	UBERON:0000167	90.44	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	90.38	gold quality
sperm	CL:0000019	90.29	gold quality
squamous epithelium	UBERON:0006914	90.26	gold quality
cortical plate	UBERON:0005343	89.84	gold quality
nephron tubule	UBERON:0001231	89.78	gold quality
mammalian vulva	UBERON:0000997	89.42	gold quality
gastrocnemius	UBERON:0001388	89.24	gold quality
blood vessel layer	UBERON:0004797	89.12	gold quality
mucosa of sigmoid colon	UBERON:0004993	89.11	gold quality
jejunal mucosa	UBERON:0000399	89.10	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-7303	no	366.57
E-MTAB-5061	no	4.04
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting DHX29, 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-4262	100.00	73.26	3931
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-4666A-5P	99.41	69.72	1887
HSA-MIR-3688-5P	99.12	69.67	1091
HSA-MIR-12120	98.05	68.44	1768
HSA-MIR-943	97.81	64.42	694
HSA-MIR-708-3P	97.50	68.67	1082
HSA-MIR-591	96.29	68.16	611
HSA-MIR-624-5P	96.00	68.88	728

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 15.0% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 9)

• Study reports that these 7 eIFs are not sufficient for efficient 48S complex formation on mRNAs with highly structured 5’UTRs, and that this process requires the DExH-box protein DHX29. (PMID:19109895)
• Down-regulation of DHX29 leads to impaired translation, resulting in disassembly of polysomes and accumulation of mRNA-free 80S monomers. DHX29 depletion also impedes cancer cell growth in culture and in xenografts. (PMID:20018725)
• Roles of individual domains in the function of DHX29, an essential factor required for translation of structured mammalian mRNAs. (PMID:23047696)
• Helicase proteins DHX29 and RIG-I cosense cytosolic nucleic acids in the human airway system. (PMID:24821782)
• DHX29 is another example of an initiation factor contributing to start codon selection. (PMID:27067542)
• DHX29 and eIF3 cooperate in scanning on structured mRNAs. Our findings support previous genetic data on the role of eIF3 during scanning (PMID:27733651)
• A critical role for DHX29 in innate immune response; molecular insights into the mechanisms by which DHX29 recognizes 5’ structured EMCV RNA and interacts with MDA5 for potent type I interferon signaling and antiviral immunity. (PMID:29462185)
• 5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome. (PMID:34322994)
• Functional role and ribosomal position of the unique N-terminal region of DHX29, a factor required for initiation on structured mammalian mRNAs. (PMID:34883515)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	dhx29	ENSDARG00000040326
mus_musculus	Dhx29	ENSMUSG00000042426
rattus_norvegicus	Dhx29	ENSRNOG00000010369

Paralogs (18): DHX33 (ENSG00000005100), YTHDC2 (ENSG00000047188), DHX8 (ENSG00000067596), DHX32 (ENSG00000089876), DHX35 (ENSG00000101452), DHX40 (ENSG00000108406), DHX15 (ENSG00000109606), HELB (ENSG00000127311), DHX30 (ENSG00000132153), DHX34 (ENSG00000134815), DHX9 (ENSG00000135829), DHX38 (ENSG00000140829), DQX1 (ENSG00000144045), DHX37 (ENSG00000150990), TDRD9 (ENSG00000156414), DHX57 (ENSG00000163214), DHX36 (ENSG00000174953), DHX16 (ENSG00000204560)

Protein

Protein identifiers

ATP-dependent RNA helicase DHX29 — Q7Z478 (reviewed: Q7Z478)

Alternative names: DEAH box protein 29, Nucleic acid helicase DDXx

All UniProt accessions (2): Q7Z478, H0Y8L1

UniProt curated annotations — full annotation on UniProt →

Function. ATP-binding RNA helicase involved in translation initiation. Part of the 43S pre-initiation complex that is required for efficient initiation on mRNAs of higher eukaryotes with structured 5’-UTRs by promoting efficient NTPase-dependent 48S complex formation. Specifically binds to the 40S ribosome near the mRNA entrance. Does not possess a processive helicase activity.

Subunit / interactions. Part of the 43S pre-initiation complex (PIC) that contains at least Met-tRNA, EIF1, EIF1A (EIF1AX or EIF1AY), EIF2S1, EIF2S2, EIF2S3, EIF3A, EIF3B, EIF3C, EIF3D, EIF3E, EIF3F, EIF3G, EIF3H, EIF3I, EIF3J, EIF3K, EIF3L, EIF3M, DHX29 and the 40S ribosomal subunit.

Subcellular location. Cytoplasm.

Similarity. Belongs to the DEAD box helicase family. DEAH subfamily.

RefSeq proteins (3): NP_001332893, NP_001332894, NP_061903* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001650	Helicase_C-like	Domain
IPR002464	DNA/RNA_helicase_DEAH_CS	Conserved_site
IPR007502	Helicase-assoc_dom	Domain
IPR011545	DEAD/DEAH_box_helicase_dom	Domain
IPR011709	DEAD-box_helicase_OB_fold	Domain
IPR014001	Helicase_ATP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR034730	DHX29	Family
IPR048333	HA2_WH	Domain
IPR056328	DSRM_DHX29	Domain
IPR056890	UBA_DHX29-like	Domain
IPR059023	RNA_hel_CTD	Domain

Pfam: PF00270, PF00271, PF04408, PF07717, PF21010, PF24385, PF24899, PF26026

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (22 total): sequence conflict 4, modified residue 3, region of interest 3, coiled-coil region 3, domain 2, compositionally biased region 2, sequence variant 2, chain 1, binding site 1, short sequence motif 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
22TU	ELECTRON MICROSCOPY	3
9CPA	ELECTRON MICROSCOPY	6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z478-F1	74.75	0.28

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 (1): 595–602

Post-translational modifications (3): 71, 192, 200

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 139 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, ELVIDGE_HYPOXIA_DN, GOBP_RIBOSOME_BIOGENESIS, GOBP_TRANSLATIONAL_INITIATION, GOBP_RIBOSOME_ASSEMBLY, GOMF_TRANSLATION_INITIATION_FACTOR_ACTIVITY, GOBP_TRANSLATION, GOBP_POSITIVE_REGULATION_OF_TRANSLATIONAL_INITIATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOMF_TRANSLATION_REGULATOR_ACTIVITY, GOBP_FORMATION_OF_TRANSLATION_PREINITIATION_COMPLEX, GOBP_CYTOPLASMIC_TRANSLATIONAL_INITIATION, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY

GO Biological Process (6): formation of translation preinitiation complex (GO:0001731), ribosome assembly (GO:0042255), positive regulation of translational initiation (GO:0045948), translation (GO:0006412), translational initiation (GO:0006413), positive regulation of translation (GO:0045727)

GO Molecular Function (14): RNA binding (GO:0003723), RNA helicase activity (GO:0003724), translation initiation factor activity (GO:0003743), helicase activity (GO:0004386), ATP binding (GO:0005524), translation activator activity (GO:0008494), ATP hydrolysis activity (GO:0016887), ribonucleoside triphosphate phosphatase activity (GO:0017111), ribosomal small subunit binding (GO:0043024), cadherin binding (GO:0045296), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), hydrolase activity (GO:0016787), hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)

GO Cellular Component (3): eukaryotic 43S preinitiation complex (GO:0016282), cytosolic small ribosomal subunit (GO:0022627), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
translational initiation	3
positive regulation of translation	2
translation	2
ATP-dependent activity	2
cytoplasmic translational initiation	1
protein-RNA complex assembly	1
ribosome biogenesis	1
membraneless organelle assembly	1
regulation of translational initiation	1
peptidyltransferase activity	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
formation of translation initiation ternary complex	1
metabolic process	1
regulation of translation	1
positive regulation of gene expression	1
positive regulation of protein metabolic process	1
nucleic acid binding	1
helicase activity	1
ATP-dependent activity, acting on RNA	1
catalytic activity, acting on RNA	1
translation factor activity	1
nucleic acid conformation isomerase activity	1
catalytic activity, acting on a nucleic acid	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
translation regulator activity	1
ribonucleoside triphosphate phosphatase activity	1
pyrophosphatase activity	1
ribosome binding	1
cell adhesion molecule binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
hydrolase activity, acting on acid anhydrides	1
cytosolic small ribosomal subunit	1

Protein interactions and networks

STRING

2634 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DHX29	EIF1	P41567	929
DHX29	EIF4A2	Q14240	901
DHX29	EIF4A1	P04765	899
DHX29	EIF4B	P23588	849
DHX29	EIF1AX	P47813	839
DHX29	EIF4G1	Q04637	830
DHX29	EIF3B	P55884	695
DHX29	EIF5	P55010	679
DHX29	DDX60	Q8IY21	674
DHX29	DDX3X	O00571	673
DHX29	H1-6	P22492	653
DHX29	MAVS	Q7Z434	651
DHX29	EIF5B	O60841	627
DHX29	DDX1	Q92499	601
DHX29	EIF3J	O75822	584

IntAct

85 interactions, top by confidence:

A	B	Type	Score
ARMC8	HTRA2	psi-mi:“MI:0914”(association)	0.750
NCBP3	SAP18	psi-mi:“MI:0914”(association)	0.530
DHX29	RPS9	psi-mi:“MI:0915”(physical association)	0.400
Rpl35	RPS6	psi-mi:“MI:0914”(association)	0.350
Eif3a	RPSA	psi-mi:“MI:0914”(association)	0.350
RPL10	RPS6	psi-mi:“MI:0914”(association)	0.350
Rrbp1	PIPSL	psi-mi:“MI:0914”(association)	0.350
C1qbp		psi-mi:“MI:0914”(association)	0.350
HNRNPU		psi-mi:“MI:0914”(association)	0.350
Setd2	PACSIN1	psi-mi:“MI:0914”(association)	0.350
NPM1	RPSA	psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
	ZNF316	psi-mi:“MI:0914”(association)	0.350
BCAR1	PSMD11	psi-mi:“MI:0914”(association)	0.350
MAB21L2	PTBP1	psi-mi:“MI:0914”(association)	0.350
VAMP5	ESYT2	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
CDX1	ZNF724	psi-mi:“MI:0914”(association)	0.350
SOCS1	NDUFA4	psi-mi:“MI:0914”(association)	0.350
NCBP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.350
NCBP3	IGF2BP3	psi-mi:“MI:0914”(association)	0.350
NCBP1	MYO1C	psi-mi:“MI:0914”(association)	0.350
	CLIC1	psi-mi:“MI:0914”(association)	0.350
BMI1	HMGB1P1	psi-mi:“MI:0914”(association)	0.350
BMI1	MEIS3P1	psi-mi:“MI:0914”(association)	0.350

BioGRID (128): DHX29 (Affinity Capture-MS), CKAP5 (Co-fractionation), DNAJC17 (Co-fractionation), EDF1 (Co-fractionation), RECQL5 (Co-fractionation), DHX29 (Affinity Capture-MS), DHX29 (Affinity Capture-MS), DHX29 (Affinity Capture-MS), DHX29 (Affinity Capture-MS), DHX29 (Affinity Capture-MS), DHX29 (Affinity Capture-MS), DHX29 (Affinity Capture-MS), DHX29 (Affinity Capture-MS), DHX29 (Affinity Capture-MS), DHX29 (Affinity Capture-MS)

ESM2 similar proteins: A0A0P0WGX7, A2BGR3, A3KFM7, A3KMI0, A4IHD2, A4PBL4, A6QQR4, B0R061, D3Z9Z9, D3ZA12, E1B7X9, F4I2H2, F4I9Q5, F4J9M5, F4JTF6, F4K128, F8VPZ5, G5EDG2, O14139, O18017, O42861, P0CQ66, P0CQ67, P32657, P32849, P32863, P40352, P87114, Q03468, Q04692, Q0D622, Q0PCS3, Q0WVW7, Q2NKX8, Q5FWR0, Q60EX7, Q6P158, Q6PGC1, Q7F2E4, Q7Z478

Diamond homologs: A3KMI0, B0XDC4, B2RR83, B3M383, B3P3W1, B4GEU5, B4HLH4, B4JT42, B4K5R2, B4LX81, B4NBB0, B4PRJ9, B8A4F4, D4A2Z8, F4HYJ7, F4I9Q5, F4IDQ6, F4IJV4, F4ILR7, F4IM84, F4INY4, F4JMJ3, F4KGU4, O17438, O22243, O22899, O35286, O42643, O42945, O43143, O45244, O60114, O60231, O70133, O94536, P0C7L7, P24785, P34498, P36009, P43329

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 111 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
SARS-CoV-1 modulates host translation machinery	8	33.8×	5e-09
Eukaryotic Translation Initiation	7	29.6×	1e-07
Cap-dependent Translation Initiation	7	29.6×	1e-07
Formation of the ternary complex, and subsequently, the 43S complex	10	29.5×	5e-10
Eukaryotic Translation Elongation	7	26.7×	2e-07
Translation initiation complex formation	10	26.1×	6e-10
Ribosomal scanning and start codon recognition	10	26.1×	6e-10
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	7	26.1×	2e-07

GO biological processes:

GO term	Partners	Fold	FDR
translational initiation	5	18.9×	7e-04
cytoplasmic translation	9	17.5×	1e-06
regulation of alternative mRNA splicing, via spliceosome	6	15.4×	4e-04
ribosomal small subunit biogenesis	6	14.4×	5e-04
mRNA transport	5	13.9×	2e-03
RNA processing	5	11.5×	4e-03
translation	10	10.8×	1e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	32
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3591 predictions. Top by Δscore:

Variant	Effect	Δscore
5:55259846:A:AC	donor_gain	1.0000
5:55259847:C:CC	donor_gain	1.0000
5:55267133:ATTAC:A	donor_loss	1.0000
5:55267136:ACCT:A	donor_loss	1.0000
5:55267137:C:A	donor_loss	1.0000
5:55267230:ATCTA:A	acceptor_loss	1.0000
5:55267232:C:CC	acceptor_gain	1.0000
5:55267232:CT:C	acceptor_loss	1.0000
5:55267658:A:AC	donor_gain	1.0000
5:55267659:C:CC	donor_gain	1.0000
5:55267684:AC:A	donor_gain	1.0000
5:55267685:CC:C	donor_gain	1.0000
5:55267820:TGCCT:T	acceptor_loss	1.0000
5:55267822:CCTA:C	acceptor_loss	1.0000
5:55267823:CTAT:C	acceptor_loss	1.0000
5:55267828:C:CT	acceptor_gain	1.0000
5:55267828:C:T	acceptor_gain	1.0000
5:55267835:C:CT	acceptor_gain	1.0000
5:55267836:A:C	acceptor_gain	1.0000
5:55269406:GACTT:G	donor_loss	1.0000
5:55269410:TAC:T	donor_loss	1.0000
5:55269411:A:AC	donor_gain	1.0000
5:55269411:AC:A	donor_gain	1.0000
5:55269412:C:CC	donor_gain	1.0000
5:55269412:CC:C	donor_gain	1.0000
5:55269412:CCA:C	donor_gain	1.0000
5:55269412:CCACT:C	donor_gain	1.0000
5:55269633:CATTT:C	acceptor_gain	1.0000
5:55269634:ATTT:A	acceptor_gain	1.0000
5:55269635:TTT:T	acceptor_gain	1.0000

AlphaMissense

8998 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:55270626:G:T	A982D	1.000
5:55270628:T:A	R981S	1.000
5:55270628:T:G	R981S	1.000
5:55270638:C:G	R978P	1.000
5:55270639:G:T	R978S	1.000
5:55270640:C:A	Q977H	1.000
5:55270640:C:G	Q977H	1.000
5:55272166:C:G	A929P	1.000
5:55272171:A:T	V927D	1.000
5:55273320:G:C	F916L	1.000
5:55273320:G:T	F916L	1.000
5:55273322:A:G	F916L	1.000
5:55281376:T:A	D702V	1.000
5:55281376:T:G	D702A	1.000
5:55281377:C:G	D702H	1.000
5:55283362:A:C	S602R	1.000
5:55283362:A:T	S602R	1.000
5:55283364:T:G	S602R	1.000
5:55283369:C:T	G600D	1.000
5:55285780:A:G	L383P	1.000
5:55285792:G:T	P379H	1.000
5:55285801:C:T	G376E	1.000
5:55285808:A:G	W374R	1.000
5:55285808:A:T	W374R	1.000
5:55269489:A:G	L1073P	0.999
5:55269498:C:T	G1070D	0.999
5:55269499:C:G	G1070R	0.999
5:55270422:A:G	L1020P	0.999
5:55270446:C:G	R1012P	0.999
5:55270596:C:G	R992P	0.999

dbSNP variants (sampled 300 via entrez): RS1000010383 (5:55256976 G>T), RS1000022515 (5:55290773 G>A), RS1000023832 (5:55295149 G>A), RS1000026456 (5:55256627 T>C,G), RS1000070002 (5:55258267 A>G), RS1000213612 (5:55302460 A>G), RS1000268979 (5:55308570 C>T), RS1000279984 (5:55277887 C>A,G), RS1000304038 (5:55288921 T>A,C), RS1000307857 (5:55278156 T>C), RS1000377071 (5:55271320 G>A), RS1000385575 (5:55262140 G>C), RS1000435648 (5:55269061 C>G), RS1000442990 (5:55304297 G>A,C), RS1000571240 (5:55299362 A>G)

Disease associations

OMIM: gene MIM:612720 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008399_7	Cocaine dependence	8.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4105909 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases activity, increases abundance, increases expression	4
bisphenol A	affects cotreatment, decreases methylation, decreases expression	2
FR900359	affects phosphorylation	1
dicrotophos	decreases expression	1
testosterone enanthate	affects expression	1
triphenyl phosphate	affects expression	1
lead acetate	affects cotreatment, decreases expression	1
1,6-hexamethylene diisocyanate	affects expression	1
trimellitic anhydride	affects expression	1
zinc protoporphyrin	affects cotreatment, decreases expression	1
ammonium hexachloroplatinate	affects expression	1
zinc chromate	increases abundance, increases expression	1
chromium hexavalent ion	increases abundance, increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
ICG 001	decreases expression, increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
jinfukang	decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	increases abundance, decreases expression	1
Caffeine	affects phosphorylation	1
Dimethyl Sulfoxide	decreases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Quercetin	decreases expression	1
Ribonucleotides	affects binding	1
Thiram	increases expression	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4007299	Binding	Inhibition of full length recombinant human N-terminal FLAG-His-tagged DHX29 RNA dependent ATPase activity expressed in baculovirus infected Sf9 insect cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescen	Discovery of selective ATP-competitive eIF4A3 inhibitors. — Bioorg Med Chem

Clinical trials (associated diseases)

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