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.

• not_specified (66 variants)
• not_provided (3 variants)

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. These statistics are base on transcript: NM_000002092.4. 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				2	1	3
missense			62	3		65
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	62	5	1

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