PROSER3

proline and serine rich 3

Basic information

Region (hg38): 19:35758143-35771166

Previous symbols: [ "C19orf55" ]

Links

ENSG00000167595 ∙ NCBI:148137 ∙ ∙ HGNC:25204 ∙ Uniprot:Q2NL68 ∙ 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 PROSER3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PROSER3 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
missense			29	4		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	5	0

Variants in PROSER3

This is a list of pathogenic ClinVar variants found in the PROSER3 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-35759412-A-T		not specified	Uncertain significance (Nov 03, 2022)
19-35759831-G-A		not specified	Uncertain significance (Jul 25, 2023)
19-35759835-C-T		not specified	Uncertain significance (Jun 02, 2024)
19-35759870-C-G		not specified	Uncertain significance (Sep 08, 2024)
19-35759897-T-G		not specified	Uncertain significance (Oct 07, 2024)
19-35762030-G-A		not specified	Uncertain significance (Jan 18, 2025)
19-35762045-A-C		not specified	Uncertain significance (Apr 06, 2024)
19-35762057-G-A		not specified	Uncertain significance (Sep 16, 2021)
19-35762057-G-C		not specified	Uncertain significance (Apr 05, 2023)
19-35762066-G-A		not specified	Uncertain significance (Dec 03, 2024)
19-35762086-C-T		not specified	Uncertain significance (Oct 13, 2023)
19-35762107-C-A		not specified	Uncertain significance (Jan 23, 2025)
19-35762126-C-A		not specified	Uncertain significance (Jan 17, 2025)
19-35762265-A-G		not specified	Uncertain significance (Dec 16, 2024)
19-35762301-C-T		not specified	Likely benign (Mar 23, 2023)
19-35764933-G-T		not specified	Uncertain significance (Dec 02, 2021)
19-35764942-C-T			Benign (Feb 01, 2025)
19-35765035-A-C		not specified	Uncertain significance (Nov 09, 2024)
19-35765048-C-T		not specified	Uncertain significance (May 04, 2023)
19-35765051-C-T		not specified	Uncertain significance (Mar 25, 2024)
19-35765130-G-C		not specified	Uncertain significance (Oct 25, 2024)
19-35765143-G-A		not specified	Uncertain significance (Dec 11, 2023)
19-35766774-C-T		not specified	Uncertain significance (Jul 14, 2022)
19-35766797-C-A		not specified	Uncertain significance (Feb 17, 2022)
19-35766839-C-T		not specified	Uncertain significance (Jul 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PROSER3	protein_coding	protein_coding	ENST00000544099	10	12887

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.06e-10	0.376	124666	0	35	124701	0.000140

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.279	228	240	0.949	0.0000134	2629
Missense in Polyphen		59	66.997	0.88063		810
Synonymous	1.23	83	98.6	0.842	0.00000549	935
Loss of Function	0.970	17	21.9	0.776	0.00000119	219

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000151	0.000151
Ashkenazi Jewish	0.00	0.00
East Asian	0.000176	0.000167
Finnish	0.00	0.00
European (Non-Finnish)	0.000151	0.000150
Middle Eastern	0.000176	0.000167
South Asian	0.000331	0.000327
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.170
• hipred: N
• hipred_score: 0.123
• ghis: 0.424

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Proser3