PWWP3B

PWWP domain containing 3B, the group of PWWP domain containing

Basic information

Region (hg38): X:106168305-106208956

Previous symbols: [ "MUM1L1" ]

Links

ENSG00000157502 ∙ NCBI:139221 ∙ ∙ HGNC:26583 ∙ Uniprot:Q5H9M0 ∙ 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 PWWP3B gene.

• not_specified (74 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PWWP3B gene is commonly pathogenic or not. These statistics are base on transcript: NM_001171020.2. 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				1	1	2
missense			72	3	2	77
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	72	4	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PWWP3B	protein_coding	protein_coding	ENST00000337685	1	40652

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.483	0.516	124113	1	3	124117	0.0000161

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.116	217	222	0.978	0.0000155	4571
Missense in Polyphen		59	70.623	0.83542		1475
Synonymous	-1.54	99	81.3	1.22	0.00000573	1288
Loss of Function	2.81	3	14.6	0.205	0.00000107	323

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000120	0.000103
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000747	0.0000558
Finnish	0.00	0.00
European (Non-Finnish)	0.0000130	0.00000889
Middle Eastern	0.0000747	0.0000558
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.367
• rvis_EVS: 0.24
• rvis_percentile_EVS: 69.37

Haploinsufficiency Scores

• pHI: 0.0861
• hipred: N
• hipred_score: 0.183

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0253

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mum1l1

Gene ontology

• Cellular component: extracellular exosome