WWC1

WW and C2 domain containing 1, the group of WWC family|Protein phosphatase 1 regulatory subunits|C2 and WW domain containing

Basic information

Region (hg38): 5:168291644-168472303

Links

ENSG00000113645 ∙ NCBI:23286 ∙ OMIM:610533 ∙ HGNC:29435 ∙ Uniprot:Q8IX03 ∙ 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 WWC1 gene.

• Inborn genetic diseases (44 variants)
• not provided (12 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WWC1 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	4	7
missense			42	2	3	47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				2	1	3
Total	0	0	42	7	8

Variants in WWC1

This is a list of pathogenic ClinVar variants found in the WWC1 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-168292147-G-A			Likely benign (Feb 01, 2023)
5-168292148-G-A			Likely benign (Feb 01, 2023)
5-168292172-C-G		not specified	Uncertain significance (Sep 06, 2022)
5-168292199-G-A		not specified	Uncertain significance (Feb 05, 2024)
5-168292238-A-G		not specified	Likely benign (Apr 07, 2023)
5-168292259-A-G		not specified	Uncertain significance (Dec 17, 2021)
5-168385250-G-A		not specified	Uncertain significance (Mar 05, 2024)
5-168406230-G-C		not specified	Uncertain significance (Mar 01, 2023)
5-168406289-A-C		not specified	Uncertain significance (Dec 13, 2021)
5-168408508-G-A		not specified	Uncertain significance (Jul 12, 2023)
5-168408516-A-G		not specified	Uncertain significance (Sep 17, 2021)
5-168408528-G-A		not specified	Uncertain significance (Sep 29, 2023)
5-168408534-C-T			Benign (Nov 02, 2020)
5-168408624-G-A			Benign (Jul 13, 2018)
5-168409943-C-A		not specified	Uncertain significance (Dec 26, 2023)
5-168414356-A-T		not specified	Uncertain significance (Jul 21, 2021)
5-168414408-G-T			Likely benign (Jun 26, 2018)
5-168414440-A-T		not specified	Uncertain significance (Feb 28, 2023)
5-168414479-G-T		not specified	Uncertain significance (Feb 03, 2022)
5-168414512-A-G		not specified	Uncertain significance (Dec 22, 2023)
5-168414559-C-A			Benign (Jul 21, 2017)
5-168418786-C-T		Memory quantitative trait locus	association (Aug 07, 2013)
5-168422044-A-G			Likely benign (Sep 01, 2022)
5-168423558-T-A		not specified	Uncertain significance (Jul 26, 2022)
5-168423729-G-A			Benign (Jul 10, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WWC1	protein_coding	protein_coding	ENST00000521089	23	180653

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000394	1.00	125720	0	27	125747	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.56	553	666	0.830	0.0000408	7222
Missense in Polyphen		192	263.11	0.72972		2892
Synonymous	-0.125	271	268	1.01	0.0000160	2222
Loss of Function	5.24	19	64.4	0.295	0.00000355	693

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000362	0.000362
Ashkenazi Jewish	0.000411	0.000298
East Asian	0.000218	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000627	0.0000615
Middle Eastern	0.000218	0.000163
South Asian	0.000131	0.000131
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with NF2 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. Acts as a transcriptional coactivator of ESR1 which plays an essential role in DYNLL1-mediated ESR1 transactivation. Regulates collagen-stimulated activation of the ERK/MAPK cascade. Modulates directional migration of podocytes. Acts as a substrate for PRKCZ. Plays a role in cognition and memory performance. {ECO:0000269|PubMed:15081397, ECO:0000269|PubMed:16684779, ECO:0000269|PubMed:18190796, ECO:0000269|PubMed:18596123, ECO:0000269|PubMed:18672031, ECO:0000269|PubMed:20159598, ECO:0000269|PubMed:23778582}.
• Pathway: Hippo signaling pathway - Homo sapiens (human);Hippo signaling pathway - multiple species - Homo sapiens (human);Signal Transduction;NOTCH3 Intracellular Domain Regulates Transcription;Signaling by NOTCH3;Signaling by NOTCH;Signaling by Hippo (Consensus)

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.682
• rvis_EVS: -1.83
• rvis_percentile_EVS: 2.12

Haploinsufficiency Scores

• pHI: 0.340
• hipred: Y
• hipred_score: 0.747
• ghis: 0.570

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.853

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wwc1
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: wwc1
• Affected structure: otolith
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;positive regulation of transcription of Notch receptor target;cell migration;establishment of cell polarity;regulation of intracellular transport;hippo signaling;regulation of hippo signaling;negative regulation of hippo signaling;positive regulation of MAPK cascade;negative regulation of organ growth
• Cellular component: nucleus;cytoplasm;cytosol;ruffle membrane;protein-containing complex;perinuclear region of cytoplasm
• Molecular function: transcription coactivator activity;protein binding;kinase binding;protein-containing complex scaffold activity