PROSER1

proline and serine rich 1

Basic information

Region (hg38): 13:39009865-39038089

Previous symbols: [ "C13orf23" ]

Links

ENSG00000120685 ∙ NCBI:80209 ∙ ∙ HGNC:20291 ∙ Uniprot:Q86XN7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• neurodevelopmental disorder (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PROSER1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PROSER1 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				2	2	4
missense			75	1	1	77
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	75	3	3

Variants in PROSER1

This is a list of pathogenic ClinVar variants found in the PROSER1 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-39011387-A-G		not specified	Uncertain significance (Feb 23, 2023)
13-39011417-G-A		not specified	Uncertain significance (Nov 09, 2024)
13-39011454-C-T		not specified	Uncertain significance (Jul 28, 2021)
13-39012115-T-G		not specified	Uncertain significance (Nov 10, 2022)
13-39012133-A-C		not specified	Uncertain significance (Jan 03, 2022)
13-39012147-G-A		not specified	Uncertain significance (Dec 03, 2024)
13-39012220-G-A		not specified	Uncertain significance (May 14, 2024)
13-39012710-C-T		not specified	Uncertain significance (Oct 06, 2021)
13-39012713-A-T			Benign (Mar 29, 2018)
13-39012781-G-A		not specified	Uncertain significance (Apr 23, 2024)
13-39012788-G-A		not specified	Uncertain significance (Sep 20, 2023)
13-39012789-T-C			Likely benign (Dec 01, 2022)
13-39012840-G-A			Benign (Mar 29, 2018)
13-39012847-G-A		not specified	Uncertain significance (Jan 09, 2024)
13-39012860-T-C		not specified	Uncertain significance (Dec 15, 2023)
13-39012863-G-T		not specified	Uncertain significance (Mar 19, 2024)
13-39012889-T-C		not specified	Uncertain significance (Aug 16, 2021)
13-39012941-G-C		not specified	Uncertain significance (Jun 29, 2022)
13-39012986-G-T		not specified	Uncertain significance (Feb 21, 2024)
13-39013001-G-A		not specified	Uncertain significance (Sep 14, 2022)
13-39013013-C-G		not specified	Uncertain significance (Oct 05, 2023)
13-39013021-G-A		not specified	Uncertain significance (Feb 27, 2023)
13-39013046-T-C		not specified	Likely benign (Jun 16, 2024)
13-39013058-C-T		not specified	Uncertain significance (Oct 26, 2022)
13-39013060-G-A		not specified	Uncertain significance (Dec 10, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PROSER1	protein_coding	protein_coding	ENST00000352251	13	28250

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.711	0.289	125722	0	26	125748	0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.138	492	501	0.983	0.0000258	5881
Missense in Polyphen		160	183.87	0.87018		2273
Synonymous	-0.779	218	204	1.07	0.0000114	2212
Loss of Function	4.10	6	30.4	0.197	0.00000157	422

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000616	0.0000615
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.000708	0.000707
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000714	0.0000703
Middle Eastern	0.000708	0.000707
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0957

Intolerance Scores

• rvis_EVS: -0.17
• rvis_percentile_EVS: 40.65

Haploinsufficiency Scores

• pHI: 0.104
• hipred: Y
• hipred_score: 0.595
• ghis: 0.536

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Proser1