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.

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.

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				1	1	2
missense			42	3	2	47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	42	4	3

Variants in PWWP3B

This is a list of pathogenic ClinVar variants found in the PWWP3B region.

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

Position	Type	Phenotype	Significance	ClinVar
X-106205453-A-G			Benign (Jul 15, 2018)
X-106205459-C-A			Uncertain significance (-)
X-106205517-A-G		not specified	Uncertain significance (Apr 11, 2023)
X-106205522-G-T		not specified	Uncertain significance (Jun 11, 2021)
X-106205530-A-G		not specified	Uncertain significance (Nov 20, 2024)
X-106205532-G-A		not specified	Likely benign (May 15, 2024)
X-106205556-C-T		not specified	Uncertain significance (Oct 27, 2023)
X-106205584-A-G		not specified	Uncertain significance (Jul 05, 2023)
X-106205668-C-T			Benign (May 15, 2018)
X-106205679-G-A		not specified	Uncertain significance (Apr 23, 2024)
X-106205811-G-A		not specified	Uncertain significance (Jun 18, 2021)
X-106205820-C-T		not specified	Uncertain significance (Dec 01, 2022)
X-106205833-A-T		not specified	Uncertain significance (Sep 26, 2023)
X-106205836-G-A		not specified	Uncertain significance (Apr 24, 2024)
X-106205850-G-A		not specified	Uncertain significance (Feb 18, 2025)
X-106205877-G-A		not specified	Uncertain significance (Dec 23, 2024)
X-106205910-A-G		not specified	Uncertain significance (Jan 03, 2024)
X-106206027-C-T		not specified	Uncertain significance (Aug 12, 2021)
X-106206031-C-T		not specified	Uncertain significance (Jul 05, 2024)
X-106206069-G-C		not specified	Uncertain significance (Dec 14, 2021)
X-106206084-A-T		not specified	Uncertain significance (Jun 22, 2023)
X-106206126-A-G		not specified	Uncertain significance (Sep 26, 2023)
X-106206130-A-T		not specified	Uncertain significance (Jul 19, 2023)
X-106206142-C-T		not specified	Likely benign (Feb 28, 2023)
X-106206166-C-T		not specified	Uncertain significance (Oct 07, 2024)

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