WWP1

WW domain containing E3 ubiquitin protein ligase 1, the group of C2 and WW domain containing|HECT domain containing

Basic information

Region (hg38): 8:86342547-86478420

Links

ENSG00000123124 ∙ NCBI:11059 ∙ OMIM:602307 ∙ HGNC:17004 ∙ Uniprot:Q9H0M0 ∙ 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 WWP1 gene.

• not_specified (48 variants)
• not_provided (3 variants)
• Wolff-Parkinson-White_pattern (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WWP1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000007013.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			45	2		47
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	46	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WWP1	protein_coding	protein_coding	ENST00000517970	23	135683

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000338	125721	0	27	125748	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.81	315	490	0.643	0.0000256	6038
Missense in Polyphen		96	224.19	0.42821		2829
Synonymous	0.247	163	167	0.976	0.00000859	1679
Loss of Function	6.10	8	58.2	0.137	0.00000294	693

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000153	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000675	0.0000544
Finnish	0.0000932	0.0000924
European (Non-Finnish)	0.000144	0.000141
Middle Eastern	0.0000675	0.0000544
South Asian	0.000145	0.000131
Other	0.000194	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Ubiquitinates ERBB4 isoforms JM-A CYT-1 and JM-B CYT-1, KLF2, KLF5 and TP63 and promotes their proteasomal degradation. Ubiquitinates RNF11 without targeting it for degradation. Ubiquitinates and promotes degradation of TGFBR1; the ubiquitination is enhanced by SMAD7. Ubiquitinates SMAD6 and SMAD7. Ubiquitinates and promotes degradation of SMAD2 in response to TGF-beta signaling, which requires interaction with TGIF. {ECO:0000269|PubMed:12535537, ECO:0000269|PubMed:15221015, ECO:0000269|PubMed:15359284}.
• Pathway: Endocytosis - Homo sapiens (human);Ubiquitin mediated proteolysis - Homo sapiens (human);TGF-Ncore;TGF-beta Signaling Pathway;Transcriptional regulation by RUNX2;Signal Transduction;Gene expression (Transcription);Generic Transcription Pathway;Stimuli-sensing channels;Ion channel transport;RNA Polymerase II Transcription;Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Transport of small molecules;Downregulation of ERBB4 signaling;Class I MHC mediated antigen processing & presentation;ErbB4 signaling events;Validated transcriptional targets of TAp63 isoforms;Signaling by ERBB4;Signaling by Receptor Tyrosine Kinases;Validated transcriptional targets of deltaNp63 isoforms;TGF-beta receptor signaling;Regulation of RUNX2 expression and activity (Consensus)

Recessive Scores

• pRec: 0.142

Intolerance Scores

• loftool: 0.389
• rvis_EVS: -0.69
• rvis_percentile_EVS: 15.12

Haploinsufficiency Scores

• pHI: 0.707
• hipred: Y
• hipred_score: 0.736
• ghis: 0.598

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.997

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wwp1
• Phenotype: skeleton phenotype; cellular phenotype

Gene ontology

• Biological process: protein polyubiquitination;ubiquitin-dependent protein catabolic process;signal transduction;central nervous system development;protein ubiquitination;ion transmembrane transport;proteasome-mediated ubiquitin-dependent protein catabolic process;positive regulation of protein catabolic process;negative regulation of transcription, DNA-templated;viral entry into host cell
• Cellular component: ubiquitin ligase complex;nucleus;cytoplasm;cytosol;plasma membrane;extracellular exosome
• Molecular function: ubiquitin-protein transferase activity;protein binding;ubiquitin protein ligase activity