DHX8

DEAH-box helicase 8, the group of Spliceosomal C complex|Spliceosomal P complex|DEAH-box helicases|SSU processome

Basic information

Region (hg38): 17:43483864-43610338

Previous symbols: [ "DDX8" ]

Links

ENSG00000067596 ∙ NCBI:1659 ∙ OMIM:600396 ∙ HGNC:2749 ∙ Uniprot:Q14562 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DHX8 gene.

• Inborn genetic diseases (29 variants)
• not provided (16 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHX8 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			25			25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding			4		14	18
Total	0	0	29	1	14

Variants in DHX8

This is a list of pathogenic ClinVar variants found in the DHX8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-43484041-G-T		not specified	Uncertain significance (May 23, 2023)
17-43484063-G-T		not specified	Uncertain significance (Dec 19, 2023)
17-43484065-G-T		not specified	Uncertain significance (Feb 14, 2023)
17-43484092-G-A		not specified	Uncertain significance (Dec 13, 2022)
17-43484177-A-G		not specified	Uncertain significance (Jan 02, 2024)
17-43489461-T-C		not specified	Uncertain significance (Jul 12, 2022)
17-43489511-G-A		not specified	Uncertain significance (Apr 25, 2023)
17-43490442-G-A		not specified	Uncertain significance (Feb 03, 2022)
17-43491179-C-T		not specified	Uncertain significance (Mar 06, 2023)
17-43492689-C-T		not specified	Uncertain significance (Sep 22, 2023)
17-43492700-A-C		not specified	Uncertain significance (Dec 07, 2021)
17-43492703-C-T		not specified	Uncertain significance (Feb 28, 2023)
17-43492710-G-A		not specified	Uncertain significance (Nov 15, 2021)
17-43492736-G-C		not specified	Uncertain significance (May 11, 2022)
17-43492758-G-A		not specified	Uncertain significance (Mar 20, 2023)
17-43492770-A-T		not specified	Uncertain significance (Jan 04, 2022)
17-43492911-A-T		not specified	Uncertain significance (Mar 22, 2023)
17-43492980-A-G		not specified	Uncertain significance (Feb 26, 2024)
17-43493036-C-G		not specified	Uncertain significance (Dec 27, 2022)
17-43493489-A-C		not specified	Uncertain significance (Jan 02, 2024)
17-43493737-G-A		not specified	Uncertain significance (Jun 29, 2023)
17-43504689-T-C		not specified	Uncertain significance (Jan 20, 2023)
17-43504737-A-T		not specified	Uncertain significance (Dec 19, 2022)
17-43507006-G-A		not specified	Uncertain significance (Jun 18, 2021)
17-43507634-C-T			Likely benign (Dec 08, 2017)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DHX8	protein_coding	protein_coding	ENST00000262415	23	60599

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.15e-7	1.00	125675	0	72	125747	0.000286

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	5.03	338	717	0.471	0.0000418	8015
Missense in Polyphen		52	228.18	0.22789		2704
Synonymous	0.416	247	255	0.967	0.0000132	2401
Loss of Function	4.89	23	65.8	0.350	0.00000409	708

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000858	0.000857
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000163	0.000163
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000336	0.000334
Middle Eastern	0.000163	0.000163
South Asian	0.000131	0.000131
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). Facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome (PubMed:8608946). {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:8608946}.
• Pathway: Spliceosome - Homo sapiens (human);mRNA Processing (Consensus)

Recessive Scores

• pRec: 0.0959

Intolerance Scores

• loftool: 0.595
• rvis_EVS: -1.06
• rvis_percentile_EVS: 7.48

Haploinsufficiency Scores

• pHI: 0.325
• hipred: Y
• hipred_score: 0.648
• ghis: 0.586

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.974

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Dhx8

Zebrafish Information Network

• Gene name: dhx8
• Affected structure: blood cell
• Phenotype tag: abnormal
• Phenotype quality: absent

Gene ontology

• Biological process: spliceosomal complex disassembly;mRNA splicing, via spliceosome;RNA processing;RNA splicing
• Cellular component: nucleus;nucleoplasm;spliceosomal complex;nuclear body;U2-type catalytic step 2 spliceosome;catalytic step 2 spliceosome
• Molecular function: RNA binding;ATP-dependent RNA helicase activity;protein binding;ATP binding;ATP-dependent 3'-5' RNA helicase activity;identical protein binding