RWDD1

RWD domain containing 1

Basic information

Region (hg38): 6:116571409-116597675

Links

ENSG00000111832 ∙ NCBI:51389 ∙ ∙ HGNC:20993 ∙ Uniprot:Q9H446 ∙ 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 RWDD1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RWDD1 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			6			6
nonsense						0
start loss			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	8	0	0

Variants in RWDD1

This is a list of pathogenic ClinVar variants found in the RWDD1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-116571589-G-T		not specified	Uncertain significance (Mar 19, 2024)
6-116580334-C-T		not specified	Uncertain significance (Jan 23, 2023)
6-116584839-A-T		not specified	Uncertain significance (Feb 12, 2024)
6-116584850-C-G		not specified	Uncertain significance (May 09, 2023)
6-116584856-A-T		not specified	Uncertain significance (Mar 18, 2024)
6-116588862-G-A		not specified	Uncertain significance (May 28, 2023)
6-116588922-G-C		not specified	Uncertain significance (Jul 13, 2021)
6-116590383-G-A		not specified	Uncertain significance (Jul 26, 2021)
6-116593029-C-G		not specified	Uncertain significance (Sep 29, 2022)
6-116593060-G-A		not specified	Uncertain significance (Jul 15, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RWDD1	protein_coding	protein_coding	ENST00000466444	7	26309

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.910	0.0896	125424	0	5	125429	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.15	78	112	0.694	0.00000493	1615
Missense in Polyphen		7	18.1	0.38674		282
Synonymous	0.753	35	41.1	0.851	0.00000197	399
Loss of Function	2.97	1	12.2	0.0822	5.11e-7	175

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)	0.0000359	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000382	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Protects DRG2 from proteolytic degradation. {ECO:0000250}.

Recessive Scores

• pRec: 0.118

Intolerance Scores

• loftool: 0.494
• rvis_EVS: -0.14
• rvis_percentile_EVS: 42.88

Haploinsufficiency Scores

• pHI: 0.245
• hipred: N
• hipred_score: 0.378
• ghis: 0.634

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.925

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rwdd1
• Phenotype: immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: cytoplasmic translation;cell aging;androgen receptor signaling pathway;cellular response to oxidative stress;cellular response to testosterone stimulus;positive regulation of androgen receptor activity
• Cellular component: cytoplasm;polysome
• Molecular function: protein binding