GRSF1

G-rich RNA sequence binding factor 1, the group of RNA binding motif containing

Basic information

Region (hg38): 4:70815783-70839897

Links

ENSG00000132463 ∙ NCBI:2926 ∙ OMIM:604851 ∙ HGNC:4610 ∙ Uniprot:Q12849 ∙ 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 GRSF1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GRSF1 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	2
missense			41	1		42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1	1	2
non coding				1		1
Total	0	0	41	3	1

Variants in GRSF1

This is a list of pathogenic ClinVar variants found in the GRSF1 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-70824365-T-C		not specified	Uncertain significance (Sep 16, 2021)
4-70825304-G-A		not specified	Uncertain significance (Oct 01, 2024)
4-70825308-G-A		not specified	Uncertain significance (Oct 02, 2023)
4-70825314-T-C		not specified	Uncertain significance (Jun 02, 2023)
4-70825340-T-C		not specified	Uncertain significance (Jul 20, 2021)
4-70825438-GACAA-G			Benign (Dec 31, 2019)
4-70826179-T-C		not specified	Uncertain significance (Apr 05, 2023)
4-70826183-G-A			Benign (May 21, 2018)
4-70826201-A-C		not specified	Uncertain significance (Nov 07, 2022)
4-70827876-C-T		not specified	Uncertain significance (May 26, 2023)
4-70827883-G-A			Likely benign (Dec 01, 2022)
4-70827924-T-C		not specified	Likely benign (Oct 05, 2022)
4-70827950-G-A		not specified	Uncertain significance (Apr 08, 2024)
4-70827951-T-C		not specified	Uncertain significance (Oct 20, 2024)
4-70828020-G-C		not specified	Uncertain significance (Jul 09, 2021)
4-70828036-T-C		not specified	Likely benign (Jun 17, 2024)
4-70831578-T-A		not specified	Uncertain significance (May 05, 2023)
4-70831653-G-A		not specified	Uncertain significance (Aug 02, 2021)
4-70831656-A-C		not specified	Uncertain significance (Sep 29, 2022)
4-70832338-G-C		not specified	Uncertain significance (Sep 01, 2024)
4-70832373-C-T		not specified	Uncertain significance (Feb 19, 2025)
4-70832388-G-A		not specified	Uncertain significance (Jun 30, 2024)
4-70832390-G-A		not specified	Uncertain significance (May 31, 2024)
4-70832396-T-G		not specified	Uncertain significance (Dec 19, 2022)
4-70832404-C-A		not specified	Uncertain significance (Dec 02, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GRSF1	protein_coding	protein_coding	ENST00000254799	9	24164

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.07e-11	0.162	124615	0	62	124677	0.000249

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.511	245	224	1.10	0.0000117	3071
Missense in Polyphen		58	63.242	0.91711		884
Synonymous	-0.0317	82	81.6	1.00	0.00000438	951
Loss of Function	0.710	19	22.6	0.839	0.00000152	266

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000822	0.000821
Ashkenazi Jewish	0.000305	0.000298
East Asian	0.000390	0.000389
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.000186	0.000186
Middle Eastern	0.000390	0.000389
South Asian	0.000230	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulator of post-transcriptional mitochondrial gene expression, required for assembly of the mitochondrial ribosome and for recruitment of mRNA and lncRNA. Binds RNAs containing the 14 base G-rich element. Preferentially binds RNAs transcribed from three contiguous genes on the light strand of mtDNA, the ND6 mRNA, and the long non-coding RNAs for MT-CYB and MT-ND5, each of which contains multiple consensus binding sequences. {ECO:0000269|PubMed:23473033, ECO:0000269|PubMed:23473034}.

Intolerance Scores

• rvis_EVS: -0.51
• rvis_percentile_EVS: 21.41

Haploinsufficiency Scores

• pHI: 0.360
• hipred: N
• hipred_score: 0.170
• ghis: 0.668

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.843

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Grsf1

Gene ontology

• Biological process: mRNA polyadenylation;tRNA processing;anterior/posterior pattern specification;morphogenesis of embryonic epithelium
• Cellular component: cytoplasm;mitochondrion;ribonucleoprotein granule;mitochondrial nucleoid
• Molecular function: RNA binding;mRNA binding;protein binding