DHX30 (DExH-box helicase 30)

Gene

• Entrez ID: 22907
• Gene name: DExH-box helicase 30
• Gene symbol: DHX30
• Synonyms (NCBI Gene): DDX30, NEDMIAL, RETCOR
• Chromosome: 3
• Chromosome location: 3p21.31
• Summary: 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 m

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057519436	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1060499733	A>G	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1576517675	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029845	hsa-miR-26b-5p	Microarray	19088304
MIRT051274	hsa-miR-16-5p	CLASH	23622248
MIRT048943	hsa-miR-92a-3p	CLASH	23622248
MIRT048943	hsa-miR-92a-3p	CLASH	23622248
MIRT048943	hsa-miR-92a-3p	CLASH	23622248
MIRT046475	hsa-miR-15b-5p	CLASH	23622248
MIRT045535	hsa-miR-149-5p	CLASH	23622248
MIRT041892	hsa-miR-484	CLASH	23622248
MIRT041576	hsa-miR-193b-3p	CLASH	23622248
MIRT040503	hsa-miR-589-3p	CLASH	23622248
MIRT038885	hsa-miR-93-3p	CLASH	23622248
MIRT038885	hsa-miR-93-3p	CLASH	23622248
MIRT052709	hsa-miR-1260b	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002151	Function	G-quadruplex RNA binding	IBA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003678	Function	DNA helicase activity	IBA
GO:0003682	Function	Chromatin binding	IDA	18063578
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IDA	29100085
GO:0003723	Function	RNA binding	IEA
GO:0003724	Function	RNA helicase activity	IBA
GO:0003724	Function	RNA helicase activity	IDA	29100085
GO:0003724	Function	RNA helicase activity	IEA
GO:0003725	Function	Double-stranded RNA binding	IDA	21266579
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	17932509, 21903422, 23455922, 30021884, 32707033, 33961781, 35156780, 36012204
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	29100085
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	29100085
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	23275553
GO:0005829	Component	Cytosol	IDA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0035770	Component	Ribonucleoprotein granule	IDA	25683715
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578, 25683715
GO:0042645	Component	Mitochondrial nucleoid	IEA
GO:1902775	Process	Mitochondrial large ribosomal subunit assembly	IMP	25683715

Other IDs

• MIM: 616423
• HGNC: 16716
• e!Ensembl: ENSG00000132153

Protein

• UniProt ID: Q7L2E3
• Protein name: ATP-dependent RNA helicase DHX30 (EC 3.6.4.13) (DEAH box protein 30)
• Protein function: RNA-dependent helicase (PubMed:29100085). Plays an important role in the assembly of the mitochondrial large ribosomal subunit (PubMed:25683715, PubMed:29100085). Required for optimal function of the zinc-finger antiviral protein ZC3HAV1 (By sim
• PDB: 2DB2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00270	DEAD	437 → 600	DEAD/DEAH box helicase	Domain
  PF00271	Helicase_C	652 → 787	Helicase conserved C-terminal domain	Family
  PF04408	HA2	851 → 966	Helicase associated domain (HA2)	Domain
  PF07717	OB_NTP_bind	1015 → 1105	Oligonucleotide/oligosaccharide-binding (OB)-fold	Domain

• Sequence:

  MFSLDSFRKDRAQHRQRQCKLPPPRLPPMCVNPTPGGTISRASRDLLKEFPQPKNLLNSV
  IGRALGISHAKDKLVYVHTNGPKKKKVTLHIKWPKSVEVEGYGSKKIDAERQAAAAACQL
  FKGWGLLGPRNELFDAAKYRVLADRFGSPADSWWRPEPTMPPTSWRQLNPESIRPGGPGG
  LSRSLGREEEEDEEEELEEGTIDVTDFLSMTQQDSHAPLRDSRGSSFEMTDDDSAIRALT
  QFPLPKNLLAKVIQIATSSSTAKNLMQFHTVGTKTKLSTLTLLWPCPMTFVAKGRRKAEA
  ENKAAALACKKLKSLGLVDRNNEPLTHAMYNLASLRELGETQRRPCTIQVPEPILRKIET
  FLNHYPVESSWIAPELRLQSDDILPLGKDSGPLSDPITGKPYVPLLEAEEVRLSQSLLEL
  WRRRGPVWQEAPQLPVDPHRDTILNAIEQHPVVVISGDTGCGKTTRIPQLLLERYVTEGR
  GARCNVIITQPRRISAVSVAQRVSHELGPSLRRNVGFQVRLESKPPSRGGALLFCTVGIL
  LRKLQSNPSLEGVSHVIVDEVHERDVNTDFLLILLKGLQRLNPALRLVLMSATGDNERFS
  RYFGGCPVIKVPGFMYPVKEHYLEDILAKLGKHQYLHRHRHHESEDECALDLDLVTDLVL
  HIDARGEPGGILCFLPGWQEIKGVQQRLQEALGMHESKYLILPVHSNIPMMDQKAIFQQP
  PVGVRKIVLATNIAETSITINDIVHVVDSGLHKEERYDLKTKVSCLETVWVSRANVIQRR
  GRAGRCQSGFAYHLFPRSRLEKMVPFQVPEILRTPLENLVLQAKIHMPEKTAVEFLSKAV
  DSPNIKAVDEAVILLQEIGVLDQREYLTTLGQRLAHISTDPRLAKAIVLAAIFRCLHPLL
  VVVSCLTRDPFSSSLQNRAEVDKVKALLSHDSGSDHLAFVRAVAGWEEVLRWQDRSSREN
  YLEENLLYAPSLRFIHGLIKQFSENIYEAFLVGKPSDCTLASAQCNEYSEEEELVKGVLM
  AGLYPNLIQVRQGKVTRQGKFKPNSVTYRTKSGNILLHKSTINREATRLRSRWLTYFMAV
  KSNGSVFVRDSSQVHPLAVLLLTDGDVHIRDDGRRATISLSDSDLLRLEGDSRTVRLLKE
  LRRALGRMVERSLRSELAALPPSVQEEHGQLLALLAELLRGPCGSFDVRKTADD

• Sequence length: 1194

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal cerebral white matter morphology	Pathogenic	rs1060499733	RCV001003584	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism	Pathogenic	rs1060499733	RCV001003584	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism, susceptiblity to	Pathogenic	rs2549295022	RCV003313023	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs1060499733	RCV001003584	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with severe motor impairment and absent language	Pathogenic; Likely pathogenic	rs1559723511, rs1303348930, rs1057519436, rs753242774, rs1060499733, rs1085307451, rs1553706775, rs1553706799, rs1576517675	RCV001801336 RCV003152584 RCV003152925 RCV000532178 RCV000537639 RCV000544652 RCV000546135 RCV000557070 RCV000558538 RCV000987263	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DHX30-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DELAY-INTELLECTUAL DISABILITY-ATAXIA-FEEDING DIFFICULTY SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH VARIABLE MOTOR AND LANGUAGE IMPAIRMENT	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STRABISMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	36163369	Associate	★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	29100085	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	31422817	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29100085, 31256877	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	36163369	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29100085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	29100085		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	29100085, 31422817	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36163369	Associate	★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	Neurodevelopmental Disorder With Motor Impairment And Absent Language	GENOMICS_ENGLAND_DG	28327206		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	Neurodevelopmental Disorder With Motor Impairment And Absent Language	UNIPROT_DG	28327206, 29100085		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	Neurodevelopmental Disorder With Motor Impairment And Absent Language	CLINVAR_DG	28327206		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29100085, 31256877, 31422817		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	GENOMICS_ENGLAND_DG	29100085		★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta, Levin type	Osteogenesis Imperfecta	BEFREE	29100085		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Speech Disorders	Speech Disorders	BEFREE	29100085		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only