RWDD4

RWD domain containing 4

Basic information

Region (hg38): 4:183639635-183659203

Previous symbols: [ "FAM28A", "RWDD4A" ]

Links

ENSG00000182552 ∙ NCBI:201965 ∙ ∙ HGNC:23750 ∙ Uniprot:Q6NW29 ∙ 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 RWDD4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RWDD4 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						0
missense			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in RWDD4

This is a list of pathogenic ClinVar variants found in the RWDD4 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-183641459-T-G		not specified	Uncertain significance (Jul 15, 2021)
4-183646526-C-G		not specified	Uncertain significance (Jun 30, 2023)
4-183649555-T-C		not specified	Uncertain significance (Apr 20, 2024)
4-183651121-C-T		not specified	Uncertain significance (Jul 05, 2023)
4-183651237-C-T		not specified	Uncertain significance (Jan 26, 2023)
4-183651273-T-C		not specified	Uncertain significance (Feb 15, 2023)
4-183651294-T-G		not specified	Uncertain significance (Jan 09, 2024)
4-183651304-T-G		not specified	Uncertain significance (Sep 16, 2021)
4-183658933-T-C		not specified	Uncertain significance (Dec 21, 2022)
4-183658948-C-T		not specified	Uncertain significance (Apr 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RWDD4	protein_coding	protein_coding	ENST00000326397	8	19591

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0174	0.963	125726	0	11	125737	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.693	79	98.3	0.803	0.00000512	1240
Missense in Polyphen		35	35.665	0.98134		472
Synonymous	0.630	28	32.6	0.860	0.00000165	319
Loss of Function	2.03	5	12.9	0.388	6.11e-7	165

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)	0.0000809	0.0000791
Middle Eastern	0.00	0.00
South Asian	0.0000658	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.108

Intolerance Scores

• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.26

Haploinsufficiency Scores

• pHI: 0.215
• hipred: Y
• hipred_score: 0.518
• ghis: 0.463

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rwdd4a