RSRC2

arginine and serine rich coiled-coil 2

Basic information

Region (hg38): 12:122503454-122527000

Links

ENSG00000111011 ∙ NCBI:65117 ∙ OMIM:619996 ∙ HGNC:30559 ∙ Uniprot:Q7L4I2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• complex neurodevelopmental disorder (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RSRC2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RSRC2 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			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	0

Variants in RSRC2

This is a list of pathogenic ClinVar variants found in the RSRC2 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-122505550-T-C		not specified	Uncertain significance (May 15, 2024)
12-122505678-A-G		not specified	Uncertain significance (Sep 27, 2021)
12-122505682-A-C		not specified	Uncertain significance (Jul 19, 2023)
12-122508429-G-C		not specified	Uncertain significance (Dec 30, 2024)
12-122515154-A-T		not specified	Uncertain significance (Dec 21, 2023)
12-122515201-G-C		not specified	Uncertain significance (Feb 03, 2025)
12-122515220-T-C		not specified	Uncertain significance (Dec 25, 2024)
12-122517261-T-C		not specified	Uncertain significance (Jan 07, 2025)
12-122517311-T-G		not specified	Uncertain significance (Jan 21, 2025)
12-122517347-T-C		RSRC2-related disorder	Uncertain significance (Feb 17, 2024)
12-122517404-C-T		6 conditions	Likely pathogenic (Jan 10, 2016)
12-122518960-G-A		not specified	Uncertain significance (Dec 16, 2023)
12-122518998-G-A		not specified	Uncertain significance (Aug 01, 2024)
12-122519019-T-C		not specified	Uncertain significance (Dec 18, 2023)
12-122521416-C-T		not specified	Uncertain significance (Sep 10, 2024)
12-122522215-C-T		not specified	Uncertain significance (Aug 04, 2023)
12-122522240-C-G		not specified	Uncertain significance (Nov 11, 2024)
12-122522260-T-C		not specified	Uncertain significance (May 30, 2023)
12-122522271-G-A		not specified	Uncertain significance (Dec 14, 2022)
12-122522283-C-T		not specified	Uncertain significance (Dec 06, 2024)
12-122522287-C-G		not specified	Uncertain significance (Sep 10, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RSRC2	protein_coding	protein_coding	ENST00000331738	10	22358

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.000951	125743	0	3	125746	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.99	148	234	0.633	0.0000132	2823
Missense in Polyphen		33	34.614	0.95338		432
Synonymous	-2.11	97	73.9	1.31	0.00000351	793
Loss of Function	4.64	2	29.0	0.0690	0.00000186	336

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.000100	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.109

Intolerance Scores

• loftool: 0.220
• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.46

Haploinsufficiency Scores

• pHI: 0.328
• hipred: Y
• hipred_score: 0.673
• ghis: 0.646

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.292

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rsrc2

Gene ontology

• Molecular function: RNA binding