PROSER2

proline and serine rich 2

Basic information

Region (hg38): 10:11823339-11872277

Previous symbols: [ "C10orf47" ]

Links

ENSG00000148426 ∙ NCBI:254427 ∙ ∙ HGNC:23728 ∙ Uniprot:Q86WR7 ∙ 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 PROSER2 gene.

• not_specified (123 variants)
• not_provided (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PROSER2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000153256.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	4	5
missense			114	11		125
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	114	12	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PROSER2	protein_coding	protein_coding	ENST00000277570	3	48939

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.16e-7	0.108	125710	0	38	125748	0.000151

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.985	250	210	1.19	0.0000136	2679
Missense in Polyphen		80	76.414	1.0469		1039
Synonymous	-0.316	100	96.1	1.04	0.00000687	953
Loss of Function	-0.347	10	8.88	1.13	5.25e-7	103

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000177	0.000177
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000548	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000222	0.000211
Middle Eastern	0.0000548	0.0000544
South Asian	0.000166	0.000163
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0954
• hipred: N
• hipred_score: 0.153
• ghis: 0.444

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Proser2

Gene ontology

• Molecular function: protein binding