RSRP1

arginine and serine rich protein 1

Basic information

Region (hg38): 1:25242248-25338213

Previous symbols: [ "C1orf63" ]

Links

ENSG00000117616 ∙ NCBI:57035 ∙ OMIM:620030 ∙ HGNC:25234 ∙ Uniprot:Q9BUV0 ∙ 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 RSRP1 gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RSRP1 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						0
missense			7	1		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	1	0

Variants in RSRP1

This is a list of pathogenic ClinVar variants found in the RSRP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-25242650-G-A		not specified	Uncertain significance (Jun 06, 2023)
1-25243567-T-C		not specified	Uncertain significance (Aug 30, 2021)
1-25245170-T-A		not specified	Uncertain significance (Nov 27, 2023)
1-25245188-G-A		not specified	Uncertain significance (Aug 22, 2023)
1-25245298-C-T		not specified	Uncertain significance (Feb 16, 2023)
1-25246561-G-C		not specified	Uncertain significance (Oct 19, 2021)
1-25246650-T-C		not specified	Uncertain significance (May 05, 2023)
1-25246771-G-C		not specified	Uncertain significance (Sep 22, 2023)
1-25246834-G-A		not specified	Uncertain significance (May 03, 2023)
1-25246942-T-A		not specified	Likely benign (Jun 12, 2023)
1-25284610-G-T		-	no classification for the single variant (-)
1-25284678-C-T			Likely benign (Nov 01, 2022)
1-25284694-G-C		Weakened expression of D antigen	Affects (Jan 14, 2019)
1-25284701-CT-GG		weakened D expression by serology	Affects (Jul 01, 2021)
1-25284753-T-C		RhD category D-VII	Pathogenic (May 01, 1995)
1-25290646-G-C		weakened D expression by serology	Affects (-)
1-25290671-G-A			Likely benign (Apr 09, 2018)
1-25290715-C-T		-	no classification for the single variant (-)
1-25290757-G-A		Blood group antigen abnormality	Affects (Mar 03, 2016)
1-25290760-A-C		-	no classification for the single variant (-)
1-25290800-T-C			Benign (Aug 16, 2018)
1-25300968-T-C		-	no classification for the single variant (-)
1-25301000-C-G		not specified	Uncertain significance (May 01, 2022)
1-25301038-G-A			Benign (Nov 01, 2023)
1-25301049-A-C		not specified	Uncertain significance (Jan 17, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RSRP1	protein_coding	protein_coding	ENST00000243189	4	95977

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.31e-14	0.00350	125594	1	152	125747	0.000609

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.142	166	171	0.970	0.00000840	1804
Missense in Polyphen		35	43.172	0.8107		509
Synonymous	-1.39	87	72.0	1.21	0.00000346	637
Loss of Function	-1.06	18	13.8	1.31	6.62e-7	146

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000663	0.000659
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.00120	0.00120
Finnish	0.000324	0.000323
European (Non-Finnish)	0.000782	0.000774
Middle Eastern	0.00120	0.00120
South Asian	0.000327	0.000294
Other	0.000820	0.000815

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0834

Intolerance Scores

• rvis_EVS: 0.91
• rvis_percentile_EVS: 89.44

Haploinsufficiency Scores

• pHI: 0.0742
• hipred: N
• hipred_score: 0.235
• ghis: 0.393

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Rsrp1

Gene ontology

• Molecular function: protein binding