CWH43

cell wall biogenesis 43 C-terminal homolog

Basic information

Region (hg38): 4:48986274-49062081

Links

ENSG00000109182 ∙ NCBI:80157 ∙ OMIM:618561 ∙ HGNC:26133 ∙ Uniprot:Q9H720 ∙ 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 CWH43 gene.

• Inborn genetic diseases (33 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CWH43 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			32	1	3	36
nonsense						0
start loss						0
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	2	3

Variants in CWH43

This is a list of pathogenic ClinVar variants found in the CWH43 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-48986440-T-G		not specified	Uncertain significance (Jul 13, 2022)
4-48988513-C-T		not specified	Uncertain significance (Jan 27, 2022)
4-48988534-T-C		not specified	Uncertain significance (Jul 21, 2021)
4-48988609-C-G		not specified	Uncertain significance (Mar 07, 2024)
4-48988665-A-G			Benign (Dec 31, 2019)
4-48991462-G-A		not specified	Uncertain significance (Dec 16, 2021)
4-48991463-C-T		not specified	Uncertain significance (Dec 20, 2021)
4-48991489-C-T		not specified	Uncertain significance (Mar 29, 2023)
4-48991529-T-G		not specified	Uncertain significance (Mar 07, 2024)
4-48991537-C-G		not specified	Uncertain significance (Sep 16, 2021)
4-48991944-G-T		not specified	Uncertain significance (Jan 26, 2022)
4-48991998-A-G		not specified	Uncertain significance (May 01, 2023)
4-48994675-G-A		not specified	Uncertain significance (Jun 21, 2022)
4-48998462-G-T		not specified	Uncertain significance (Feb 17, 2024)
4-48998483-C-T		not specified	Uncertain significance (May 30, 2023)
4-48998518-C-T		not specified	Uncertain significance (Feb 14, 2023)
4-48998540-G-T		not specified	Uncertain significance (Apr 01, 2022)
4-49003785-G-A		not specified	Likely benign (Feb 05, 2024)
4-49003797-G-T		not specified	Uncertain significance (Dec 28, 2022)
4-49003803-G-A		not specified	Uncertain significance (Jan 04, 2022)
4-49003848-A-G		not specified	Likely benign (Aug 16, 2021)
4-49003918-T-C		not specified	Uncertain significance (Jan 23, 2023)
4-49003940-T-A		not specified	Uncertain significance (Sep 25, 2023)
4-49003957-G-C		not specified	Uncertain significance (Dec 02, 2021)
4-49003962-T-C		not specified	Uncertain significance (Nov 18, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CWH43	protein_coding	protein_coding	ENST00000226432	16	75835

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.26e-22	0.00331	122100	42	3606	125748	0.0146

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0595	368	365	1.01	0.0000174	4533
Missense in Polyphen		117	123.4	0.94813		1528
Synonymous	-2.27	164	131	1.25	0.00000651	1360
Loss of Function	0.397	34	36.6	0.929	0.00000169	441

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0158	0.0158
Ashkenazi Jewish	0.00874	0.00857
East Asian	0.0119	0.0119
Finnish	0.0113	0.0111
European (Non-Finnish)	0.0200	0.0199
Middle Eastern	0.0119	0.0119
South Asian	0.0106	0.0106
Other	0.0176	0.0177

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in lipid remodeling during GPI-anchor maturation. {ECO:0000250}.

Intolerance Scores

• loftool: 0.826
• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.76

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.228
• ghis: 0.507

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0737

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Cwh43

Gene ontology

• Biological process: GPI anchor biosynthetic process
• Cellular component: integral component of membrane