PWWP3B

protein-coding

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

Gene summary

This gene encodes a protein which contains a mutated melanoma-associated antigen 1 domain. Proteins which contain mutated antigens are expressed at high levels on certain types of cancers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]

Previous symbols:

MUM1L1

MANE transcript

NM_001171020.2

Inheritance

—

ClinVar variants

U:81B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.21

Max pathogenic AF

—

Genomic locus

chrX:106,168,305-106,208,956

External References & Databases

Ensembl (ENSG00000157502)

Transcript & Mutation Effects

hg38 • Region Span ~40.7 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PWWP3B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 82

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001171020.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	2 clinvar	1 clinvar	4
missense			80 clinvar	3 clinvar	2 clinvar	85
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	81	5	3	89

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 60 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001171020.2	RefSeq	NP_001164491.1	1	MANE Select
ENST00000357175.6	Ensembl	ENSP00000349699.2	1	MANE Select
NM_152423.5	RefSeq	NP_689636.3	1	Standard
ENST00000337685.6	Ensembl	ENSP00000338641.2	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000337685
Coding exons: 1
Length: 40652
Individuals with no LoFs: 124113
Homozygous LoFs: 1
Heterozygous LoFs: 3
Defined: 124117
p: 0.0000161

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.116	217	222	0.978	0.0000155	4571
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000082	0.000065	rare
Latino/Admixed American	0.000038	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000075	0.000056	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000013	0.0000089	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.367
RVIS EVS: 0.24
RVIS percentile EVS: 69.37

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0253

Gene Damage Prediction

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