Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9785
Gene name Gene Name - the full gene name approved by the HGNC.	DEAH-box helicase 38
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DHX38
Synonyms (NCBI Gene) Gene synonyms aliases	DDX38, PRP16, PRPF16, RP84
Disease Acronyms (UniProt) Disease acronyms from UniProt database	RP84
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q22.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35586337	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs766053952	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1597445687	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

Show/Hide all(27)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025390	hsa-miR-34a-5p	Proteomics	21566225
MIRT025390	hsa-miR-34a-5p	Proteomics	21566225
MIRT025390	hsa-miR-34a-5p	Proteomics	21566225
MIRT051303	hsa-miR-16-5p	CLASH	23622248
MIRT046022	hsa-miR-125b-5p	CLASH	23622248
MIRT041970	hsa-miR-484	CLASH	23622248
MIRT935629	hsa-miR-1224-5p	CLIP-seq
MIRT935630	hsa-miR-129-5p	CLIP-seq
MIRT935631	hsa-miR-204	CLIP-seq
MIRT935632	hsa-miR-211	CLIP-seq
MIRT935633	hsa-miR-323b-3p	CLIP-seq
MIRT935634	hsa-miR-3929	CLIP-seq
MIRT935635	hsa-miR-3938	CLIP-seq
MIRT935636	hsa-miR-4258	CLIP-seq
MIRT935637	hsa-miR-4419b	CLIP-seq
MIRT935638	hsa-miR-4478	CLIP-seq
MIRT935639	hsa-miR-4751	CLIP-seq
MIRT935640	hsa-miR-4755-5p	CLIP-seq
MIRT935641	hsa-miR-623	CLIP-seq
MIRT935642	hsa-miR-711	CLIP-seq
MIRT1976968	hsa-miR-214	CLIP-seq
MIRT1976969	hsa-miR-338-3p	CLIP-seq
MIRT1976970	hsa-miR-3619-5p	CLIP-seq
MIRT1976971	hsa-miR-3663-5p	CLIP-seq
MIRT1976972	hsa-miR-4530	CLIP-seq
MIRT1976973	hsa-miR-761	CLIP-seq
MIRT1976974	hsa-miR-873	CLIP-seq

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IBA	21873635
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	9524131
GO:0000398	Process	MRNA splicing, via spliceosome	TAS
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IBA	21873635
GO:0003724	Function	RNA helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	21044950, 22365833, 25036637
GO:0005524	Function	ATP binding	IEA
GO:0005622	Component	Intracellular anatomical structure	IBA	21873635
GO:0005634	Component	Nucleus	NAS	9524131
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IBA	21873635
GO:0006405	Process	RNA export from nucleus	TAS
GO:0006406	Process	MRNA export from nucleus	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0031124	Process	MRNA 3'-end processing	TAS
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638

MIM	HGNC	e!Ensembl
605584	17211	ENSG00000140829

Protein

UniProt ID

Q92620

Protein name

Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 (EC 3.6.4.13) (ATP-dependent RNA helicase DHX38) (DEAH box protein 38)

Protein function

Probable ATP-binding RNA helicase (Probable). Involved in pre-mRNA splicing as component of the spliceosome (PubMed:29301961, PubMed:9524131).

PDB

5YZG , 6ZYM , 7A5P , 8I0W

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00270	DEAD	535 → 694	DEAD/DEAH box helicase	Domain
PF00271	Helicase_C	724 → 861	Helicase conserved C-terminal domain	Family
PF04408	HA2	923 → 1056	Helicase associated domain (HA2)	Domain
PF07717	OB_NTP_bind	1069 → 1148	Oligonucleotide/oligosaccharide-binding (OB)-fold	Domain

Sequence

MGDTSEDASIHRLEGTDLDCQVGGLICKSKSAASEQHVFKAPAPRPSLLGLDLLASLKRR
EREEKDDGEDKKKSKVSSYKDWEESKDDQKDAEEEGGDQAGQNIRKDRHYRSARVETPSH
PGGVSEEFWERSRQRERERREHGVYASSKEEKDWKKEKSRDRDYDRKRDRDERDRSRHSS
RSERDGGSERSSRRNEPESPRHRPKDAATPSRSTWEEEDSGYGSSRRSQWESPSPTPSYR
DSERSHRLSTRDRDRSVRGKYSDDTPLPTPSYKYNEWADDRRHLGSTPRLSRGRGRREEG
EEGISFDTEEERQQWEDDQRQADRDWYMMDEGYDEFHNPLAYSSEDYVRRREQHLHKQKQ
KRISAQRRQINEDNERWETNRMLTSGVVHRLEVDEDFEEDNAAKVHLMVHNLVPPFLDGR
IVFTKQPEPVIPVKDATSDLAIIARKGSQTVRKHREQKERKKAQHKHWELAGTKLGDIMG
VKKEEEPDKAVTEDGKVDYRTEQKFADHMKRKSEASSEFAKKKSILEQRQYLPIFAVQQE
LLTIIRDNSIVIVVGETGSGKTTQLTQYLHEDGYTDYGMIGCTQPRRVAAMSVAKRVSEE
MGGNLGEEVGYAIRFEDCTSENTLIKYMTDGILLRESLREADLDHYSAIIMDEAHERSLN
TDVLFGLLREVVARRSDLKLIVTSATMDAEKFAAFFGNVPIFHIPGRTFPVDILFSKTPQ
EDYVEAAVKQSLQVHLSGAPGDILIFMPGQEDIEVTSDQIVEHLEELENAPALAVLPIYS
QLPSDLQAKIFQKAPDGVRKCIVATNIAETSLTVDGIMFVIDSGYCKLKVFNPRIGMDAL
QIYPISQANANQRSGRAGRTGPGQCFRLYTQSAYKNELLTTTVPEIQRTNLANVVLLLKS
LGVQDLLQFHFMDPPPEDNMLNSMYQLWILGALDNTGGLTSTGRLMVEFPLDPALSKMLI
VSCDMGCSSEILLIVSMLSVPAIFYRPKGREEESDQIREKFAVPESDHLTYLNVYLQWKN
NNYSTIWCNDHFIHAKAMRKVREVRAQLKDIMVQQRMSLASCGTDWDIVRKCICAAYFHQ
AAKLKGIGEYVNIRTGMPCHLHPTSSLFGMGYTPDYIVYHELVMTTKEYMQCVTAVDGEW
LAELGPMFYSVKQAGKSRQENRRRAKEEASAMEEEMALAEEQLRARRQEQEKRSPLGSVR
STKIYTPGRKEQGEPMTPRRTPARFGL

Sequence length

1227

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		Transport of Mature mRNA derived from an Intron-Containing Transcript mRNA Splicing - Major Pathway mRNA 3'-end processing RNA Polymerase II Transcription Termination

Show/Hide Causal Diseases (13)

Disease term	Disease name	dbSNP ID	References
Causal
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537	29212778
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hyperinsulinism	Hyperinsulinism	rs387906407, rs151344623, rs121913156, rs137853245, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs137852676, rs587783169, rs72559716, rs541269678, rs151344624, rs797045209 View all (23 more)
Keratoconus	Keratoconus	rs273585637, rs273585632, rs273585616, rs273585618, rs281865144, rs281865150, rs1553500862, rs756938019
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Retinitis pigmentosa	Retinitis Pigmentosa, RETINITIS PIGMENTOSA 84, Retinitis pigmentosa	rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114 View all (1830 more)	30208423, 24737827
Rod-cone dystrophy	Rod-Cone Dystrophy	rs267606641, rs199476133, rs193302849, rs777668842, rs775518991, rs752300607, rs142759730, rs756225251, rs536742386, rs1588830568, rs778907433

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Retinitis Pigmentosa	retinitis pigmentosa			GenCC

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text Mining
Carcinoma Pancreatic Ductal	Associate	37506056
Hyperpigmentation	Associate	35719279
Retinitis Pigmentosa	Associate	30208423, 35385551, 35719279

DHX38 (DEAH-box helicase 38)