DDX27

DEAD-box helicase 27, the group of DEAD-box helicases

Basic information

Region (hg38): 20:49219347-49244077

Links

ENSG00000124228 ∙ NCBI:55661 ∙ OMIM:616621 ∙ HGNC:15837 ∙ Uniprot:Q96GQ7 ∙ 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 DDX27 gene.

• not_specified (71 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DDX27 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017895.8. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	2	4
missense			67	2	1	70
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	67	4	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DDX27	protein_coding	protein_coding	ENST00000371764	21	24731

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.583	0.417	125591	0	156	125747	0.000620

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.73	364	470	0.775	0.0000278	5204
Missense in Polyphen		101	180.78	0.55868		1827
Synonymous	0.0983	170	172	0.990	0.00000942	1514
Loss of Function	4.96	10	46.5	0.215	0.00000257	530

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000243	0.000242
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.00	0.00
Finnish	0.000462	0.000462
European (Non-Finnish)	0.000591	0.000589
Middle Eastern	0.00	0.00
South Asian	0.00219	0.00219
Other	0.000816	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable ATP-dependent RNA helicase. Component of the nucleolar ribosomal RNA (rRNA) processing machinery that regulates 3' end formation of ribosomal 47S rRNA (PubMed:25825154). {ECO:0000269|PubMed:25825154}.

Recessive Scores

• pRec: 0.109

Intolerance Scores

• loftool: 0.612
• rvis_EVS: -0.06
• rvis_percentile_EVS: 48.87

Haploinsufficiency Scores

• pHI: 0.178
• hipred: Y
• hipred_score: 0.706
• ghis: 0.561

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.871

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ddx27

Zebrafish Information Network

• Gene name: ddx27
• Affected structure: trunk
• Phenotype tag: abnormal
• Phenotype quality: decreased thickness

Gene ontology

• Biological process: rRNA processing
• Cellular component: chromosome;nucleolus
• Molecular function: RNA binding;helicase activity;protein binding;ATP binding