WDR77

WD repeat domain 77, the group of WD repeat domain containing

Basic information

Region (hg38): 1:111439890-111449256

Links

ENSG00000116455

∙ NCBI:79084 ∙ OMIM:611734 ∙ HGNC:29652 ∙ Uniprot:Q9BQA1 ∙ 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 WDR77 gene.

not_specified (33 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WDR77 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024102.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	1 clinvar		3
missense			33 clinvar	1 clinvar		34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	38	2	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WDR77	protein_coding	protein_coding	ENST00000235090	10	9487

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000245	0.984	125736	0	12	125748	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.08	138	179	0.772	0.00000838	2194
Missense in Polyphen		43	62.865	0.684		760
Synonymous	-0.690	79	71.6	1.10	0.00000366	692
Loss of Function	2.13	9	19.1	0.472	8.98e-7	213

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000600	0.0000600
Ashkenazi Jewish	0.00	0.00
East Asian	0.000168	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000535	0.0000527
Middle Eastern	0.000168	0.000163
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Non-catalytic component of the methylosome complex, composed of PRMT5, WDR77 and CLNS1A, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins and histones (PubMed:11756452). This modification targets Sm proteins to the survival of motor neurons (SMN) complex for assembly into small nuclear ribonucleoprotein core particles. Might play a role in transcription regulation. The methylosome complex also methylates the Piwi proteins (PIWIL1, PIWIL2 and PIWIL4), methylation of Piwi proteins being required for the interaction with Tudor domain-containing proteins and subsequent localization to the meiotic nuage (PubMed:23071334). {ECO:0000269|PubMed:11756452, ECO:0000269|PubMed:23071334}.;
Pathway: snRNP Assembly;RMTs methylate histone arginines;Chromatin modifying enzymes;Metabolism of RNA;Metabolism of non-coding RNA;Chromatin organization;Signaling events mediated by HDAC Class I (Consensus)

Recessive Scores

pRec: 0.417

Intolerance Scores

loftool: 0.442
rvis_EVS: -0.21
rvis_percentile_EVS: 38.58

Haploinsufficiency Scores

pHI: 0.130
hipred: Y
hipred_score: 0.661
ghis: 0.604

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: E
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 0.937

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Wdr77
Phenotype: normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; endocrine/exocrine gland phenotype;

Gene ontology

Biological process: regulation of transcription by RNA polymerase II;positive regulation of cell population proliferation;peptidyl-arginine N-methylation;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;negative regulation of epithelial cell proliferation involved in prostate gland development;positive regulation of nucleic acid-templated transcription
Cellular component: nucleus;nucleoplasm;cytoplasm;Golgi apparatus;cytosol;methylosome
Molecular function: protein binding;methyl-CpG binding;protein-arginine N-methyltransferase activity;nuclear receptor transcription coactivator activity