RWDD2B

RWD domain containing 2B

Basic information

Region (hg38): 21:29004384-29019360

Previous symbols: [ "C21orf6" ]

Links

ENSG00000156253 ∙ NCBI:10069 ∙ OMIM:617843 ∙ HGNC:1302 ∙ Uniprot:P57060 ∙ 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 RWDD2B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RWDD2B 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			24	2		26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	2	0

Variants in RWDD2B

This is a list of pathogenic ClinVar variants found in the RWDD2B region.

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

Position	Type	Phenotype	Significance	ClinVar
21-29006454-T-A		not specified	Uncertain significance (Jun 02, 2023)
21-29006460-C-T		not specified	Uncertain significance (Sep 07, 2022)
21-29006475-A-G		not specified	Uncertain significance (Jan 17, 2023)
21-29006481-T-A		not specified	Uncertain significance (Jun 11, 2024)
21-29006484-T-C		not specified	Uncertain significance (Jan 22, 2024)
21-29006604-T-C		not specified	Uncertain significance (Sep 20, 2023)
21-29007792-G-C		not specified	Uncertain significance (Jun 22, 2024)
21-29007845-G-A		not specified	Uncertain significance (Jun 05, 2023)
21-29007870-T-C		not specified	Uncertain significance (Mar 18, 2024)
21-29007893-T-C		not specified	Uncertain significance (May 09, 2022)
21-29007939-C-T		not specified	Uncertain significance (Jan 24, 2024)
21-29007989-A-C		not specified	Uncertain significance (Feb 07, 2023)
21-29008061-T-C		not specified	Uncertain significance (Dec 19, 2022)
21-29008306-G-A		not specified	Likely benign (Nov 09, 2024)
21-29008403-C-T		not specified	Uncertain significance (Jun 02, 2023)
21-29008457-C-G		not specified	Uncertain significance (Jan 30, 2024)
21-29008487-T-C		not specified	Uncertain significance (May 07, 2024)
21-29008520-T-C		not specified	Uncertain significance (Jul 05, 2023)
21-29008567-G-A		not specified	Uncertain significance (Sep 26, 2023)
21-29008599-C-A		not specified	Uncertain significance (Jan 22, 2024)
21-29008604-T-C		not specified	Uncertain significance (Nov 09, 2024)
21-29019231-C-G		not specified	Likely benign (Nov 10, 2024)
21-29019246-T-A		not specified	Uncertain significance (Dec 15, 2023)
21-29019250-A-G		not specified	Uncertain significance (Oct 16, 2024)
21-29019261-G-A		not specified	Uncertain significance (Aug 02, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RWDD2B	protein_coding	protein_coding	ENST00000493196	5	14995

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.21e-7	0.360	125614	0	133	125747	0.000529

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.429	152	168	0.907	0.00000785	2112
Missense in Polyphen		45	50.922	0.8837		682
Synonymous	0.583	56	61.8	0.906	0.00000319	585
Loss of Function	0.631	12	14.6	0.822	7.62e-7	177

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00314	0.00314
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.000272	0.000272
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000422	0.000422
Middle Eastern	0.000272	0.000272
South Asian	0.0000676	0.0000653
Other	0.00149	0.00147

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0866

Intolerance Scores

• loftool: 0.463
• rvis_EVS: 0.51
• rvis_percentile_EVS: 80.1

Haploinsufficiency Scores

• pHI: 0.0675
• hipred: N
• hipred_score: 0.150
• ghis: 0.462

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.103

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rwdd2b

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component
• Molecular function: molecular_function;protein binding