DDX59 (DEAD-box helicase 59)

Gene

• Entrez ID: 83479
• Gene name: DEAD-box helicase 59
• Gene symbol: DDX59
• Synonyms (NCBI Gene): OFD5, ZNHIT5
• Chromosome: 1
• Chromosome location: 1q32.1

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777067	A>C,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs773114666	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs886037652	C>T	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs1571603072	ATT>-	Likely-pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2211140	hsa-miR-4729	CLIP-seq
MIRT2211141	hsa-miR-587	CLIP-seq
MIRT2448138	hsa-miR-1297	CLIP-seq
MIRT2448139	hsa-miR-26a	CLIP-seq
MIRT2448140	hsa-miR-26b	CLIP-seq
MIRT2448141	hsa-miR-4272	CLIP-seq
MIRT2448142	hsa-miR-4465	CLIP-seq
MIRT2448138	hsa-miR-1297	CLIP-seq
MIRT2448139	hsa-miR-26a	CLIP-seq
MIRT2448140	hsa-miR-26b	CLIP-seq
MIRT2448141	hsa-miR-4272	CLIP-seq
MIRT2448142	hsa-miR-4465	CLIP-seq
MIRT2448138	hsa-miR-1297	CLIP-seq
MIRT2448139	hsa-miR-26a	CLIP-seq
MIRT2448140	hsa-miR-26b	CLIP-seq
MIRT2448141	hsa-miR-4272	CLIP-seq
MIRT2448142	hsa-miR-4465	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003724	Function	RNA helicase activity	IBA
GO:0003724	Function	RNA helicase activity	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0004386	Function	Helicase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 615464
• HGNC: 25360
• e!Ensembl: ENSG00000118197

Protein

• UniProt ID: Q5T1V6
• Protein name: Probable ATP-dependent RNA helicase DDX59 (EC 3.6.4.13) (DEAD box protein 59) (Zinc finger HIT domain-containing protein 5)
• PDB: 2YQP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04438	zf-HIT	104 → 133	HIT zinc finger	Domain
  PF00270	DEAD	227 → 394	DEAD/DEAH box helicase	Domain
  PF00271	Helicase_C	428 → 540	Helicase conserved C-terminal domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in fibroblasts (at protein level). {ECO:0000269|PubMed:23972372}.
• Sequence:

  MFVPRSLKIKRNANDDGKSCVAKIIKPDPEDLQLDKSRDVPVDAVATEAATIDRHISESC
  PFPSPGGQLAEVHSVSPEQGAKDSHPSEEPVKSFSKTQRWAEPGEPICVVCGRYGEYICD
  KTDEDVCSLECKAKHLLQVKEKEEKSKLSNPQKADSEPESPLNASYVYKEHPFILNLQED
  QIENLKQQLGILVQGQEVTRPIIDFEHCSLPEVLNHNLKKSGYEVPTPIQMQMIPVGLLG
  RDILASADTGSGKTAAFLLPVIMRALFESKTPSALILTPTRELAIQIERQAKELMSGLPR
  MKTVLLVGGLPLPPQLYRLQQHVKVIIATPGRLLDIIKQSSVELCGVKIVVVDEADTMLK
  MGFQQQVLDILENIPNDCQTILVSATIPTSIEQLASQLLHNPVRIITGEKNLPCANVRQI
  ILWVEDPAKKKKLFEILNDKKLFKPPVLVFVDCKLGADLLSEAVQKITGLKSISIHSEKS
  QIERKNILKGLLEGDYEVVVSTGVLGRGLDLISVRLVVNFDMPSSMDEYVHQIGRVGRLG
  QNGTAITFINNNSKRLFWDIAKRVKPTGSILPPQLLNSPYLHDQKRKEQQKDKQTQNDLV
  TGANLMDIIRKHDKSNSQK

• Sequence length: 619

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Orofaciodigital syndrome V	Likely pathogenic; Pathogenic	rs546799731, rs769198531, rs1571603072, rs773114666, rs587777067	RCV001729972 RCV001807552 RCV000985116 RCV000986499 RCV000074347

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
DDX59-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	rs78882239, rs145102433, rs2527976565, rs558924701, rs932070473, rs533727818, rs1287812241, rs181616119, rs147684909, rs146060105, rs150913822, rs145473014, rs1367770088, rs142176836	RCV003896037 RCV003906295 RCV003410570 RCV003929199 RCV003980970 RCV003934030 RCV003961519 RCV003964761 RCV003903273 RCV003925913 RCV003913289 RCV003940545 RCV003968087 RCV003910784
Familial cancer of breast	Benign	rs199891141	RCV005928254
Gastric cancer	Benign	rs142176836	RCV005907569
Lung cancer	Benign	rs199891141	RCV005928258
Sarcoma	Benign	rs199891141	RCV005928256
Thymoma	Benign	rs199891141	RCV005928257
Uterine corpus endometrial carcinoma	Benign	rs199891141	RCV005928259
Uveal melanoma	Benign	rs199891141	RCV005928255

Associations from Text Mining
Disease Name	Relationship Type	References
Glioma	Associate	35113786
Leukemia Large Granular Lymphocytic	Associate	35015834