DDX55

DEAD-box helicase 55, the group of Small nucleolar RNA protein coding host genes|DEAD-box helicases

Basic information

Region (hg38): 12:123602077-123620943

Links

ENSG00000111364 ∙ NCBI:57696 ∙ OMIM:620176 ∙ HGNC:20085 ∙ Uniprot:Q8NHQ9 ∙ 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 DDX55 gene.

• not_specified (81 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DDX55 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020936.3. 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						0
missense			78	3		81
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	78	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DDX55	protein_coding	protein_coding	ENST00000238146	14	18865

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.11e-8	0.970	125548	0	200	125748	0.000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.653	304	338	0.900	0.0000187	3950
Missense in Polyphen		106	133.24	0.79556		1496
Synonymous	0.264	124	128	0.970	0.00000728	1123
Loss of Function	2.11	17	29.3	0.580	0.00000148	357

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00239	0.00238
Ashkenazi Jewish	0.00218	0.00199
East Asian	0.00165	0.00163
Finnish	0.000582	0.000508
European (Non-Finnish)	0.000673	0.000668
Middle Eastern	0.00165	0.00163
South Asian	0.000166	0.000163
Other	0.000655	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable ATP-binding RNA helicase.

Recessive Scores

• pRec: 0.114

Intolerance Scores

• loftool: 0.963
• rvis_EVS: -0.11
• rvis_percentile_EVS: 45.57

Haploinsufficiency Scores

• pHI: 0.127
• hipred: Y
• hipred_score: 0.647
• ghis: 0.573

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.382

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ddx55
• Phenotype: integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Zebrafish Information Network

• Gene name: ddx55
• Affected structure: ceratohyal cartilage
• Phenotype tag: abnormal
• Phenotype quality: bent

Gene ontology

• Cellular component: nucleus;nucleolus;cytosol;membrane
• Molecular function: RNA binding;helicase activity;protein binding;ATP binding