WDR44

WD repeat domain 44, the group of WD repeat domain containing|MicroRNA protein coding host genes

Basic information

Region (hg38): X:118346073-118449961

Links

ENSG00000131725 ∙ NCBI:54521 ∙ OMIM:301070 ∙ HGNC:30512 ∙ Uniprot:Q5JSH3 ∙ 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 WDR44 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WDR44 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				3		3
missense			15	1		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	15	4	1

Variants in WDR44

This is a list of pathogenic ClinVar variants found in the WDR44 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-118378435-G-A		not specified	Uncertain significance (Jun 13, 2022)
X-118387388-G-C			Uncertain significance (Oct 07, 2022)
X-118392642-G-T		not specified	Uncertain significance (Mar 25, 2024)
X-118392650-G-C		not specified	Uncertain significance (Apr 14, 2022)
X-118392737-A-G		not specified	Likely benign (Dec 22, 2023)
X-118392798-C-T		not specified	Uncertain significance (Feb 05, 2024)
X-118392816-C-T			Uncertain significance (Feb 11, 2022)
X-118392838-A-G			Likely benign (Nov 01, 2022)
X-118392841-G-C		not specified	Uncertain significance (Aug 12, 2021)
X-118392910-G-A			Likely benign (Jan 01, 2023)
X-118392945-A-G		not specified	Uncertain significance (Nov 03, 2022)
X-118393008-A-T		not specified	Uncertain significance (Jan 22, 2024)
X-118393050-A-C		not specified	Uncertain significance (Dec 02, 2022)
X-118393087-C-T			Likely benign (Dec 01, 2022)
X-118393184-C-A		not specified	Uncertain significance (Apr 01, 2024)
X-118395319-A-G		not specified	Uncertain significance (Dec 15, 2023)
X-118396949-GT-G			Benign (Oct 20, 2021)
X-118397001-T-C			Uncertain significance (Dec 10, 2018)
X-118397082-T-G			Uncertain significance (Oct 03, 2022)
X-118398433-C-A		not specified	Uncertain significance (Jan 29, 2024)
X-118404440-T-A		not specified	Uncertain significance (Jul 05, 2023)
X-118409555-G-T		not specified	Uncertain significance (Dec 18, 2023)
X-118409570-G-T		not specified	Uncertain significance (Jun 11, 2024)
X-118432815-A-G			Uncertain significance (Jan 05, 2022)
X-118432835-C-T		not specified	Uncertain significance (Jan 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WDR44	protein_coding	protein_coding	ENST00000254029	20	103889

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000283	125389	0	2	125391	0.00000798

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.95	174	323	0.538	0.0000232	6002
Missense in Polyphen		17	86.198	0.19722		1592
Synonymous	1.04	101	115	0.877	0.00000842	1725
Loss of Function	4.93	2	32.2	0.0621	0.00000244	605

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000122	0.00000881
Middle Eastern	0.00	0.00
South Asian	0.0000677	0.0000328
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Downstream effector for RAB11. May be involved in vesicle recycling (By similarity). {ECO:0000250}.
• Pathway: Ectoderm Differentiation (Consensus)

Recessive Scores

• pRec: 0.100

Intolerance Scores

• loftool: 0.0984
• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.91

Haploinsufficiency Scores

• pHI: 0.916
• hipred: Y
• hipred_score: 0.728
• ghis: 0.589

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.502

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wdr44
• Phenotype: normal phenotype

Gene ontology

• Cellular component: Golgi apparatus;cytosol;endosome membrane;perinuclear region of cytoplasm
• Molecular function: Rab GTPase binding