PRPF4B

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				3 clinvar	2 clinvar	5
missense			38 clinvar	2 clinvar		40
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	38	5	2	45

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

mRNA Processing
TCR
EGFR1

Biological Process

mRNA splicing, via spliceosome
protein phosphorylation
RNA splicing

Molecular Function

RNA binding
protein kinase activity
protein serine/threonine kinase activity
protein binding
ATP binding

Cellular Component

nucleus
chromosome
nuclear speck
catalytic step 2 spliceosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000337659
Coding exons: 15
Length: 43717
Individuals with no LoFs: 125591
Homozygous LoFs: 0
Heterozygous LoFs: 5
Defined: 125596
p: 0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	3.59	314	551	0.570	0.0000300	6657
Missense (PolyPhen)		79	109.05	0.72444		1376
Synonymous	0.344	181	187	0.968	0.00000934	1855
Loss of Function	6.29	4	53.7	0.0744	0.00000392	611

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000047	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000029	0.000026	rare
South Asian	0	0.0	absent
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Has a role in pre-mRNA splicing. Phosphorylates SF2/ASF.;

Recessive Scores

pRec: 0.133

Intolerance Scores

LoFtool: 0.0344
RVIS EVS: -0.73
RVIS percentile EVS: 14.14

Essentials

Essential (CRISPR): N
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.991

Gene Damage Prediction

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