FRG2

FSHD region gene 2

Basic information

Region (hg38): 4:190024367-190027257

Links

ENSG00000205097 ∙ NCBI:448831 ∙ OMIM:609032 ∙ HGNC:19136 ∙ Uniprot:Q64ET8 ∙ 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 FRG2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FRG2 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			19	2		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	2	0

Variants in FRG2

This is a list of pathogenic ClinVar variants found in the FRG2 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-190025631-C-G		not specified	Uncertain significance (Dec 03, 2021)
4-190025670-G-A		not specified	Uncertain significance (Jan 04, 2022)
4-190025706-G-A		not specified	Uncertain significance (Feb 15, 2023)
4-190025706-G-T		not specified	Uncertain significance (Feb 22, 2023)
4-190025732-C-A		not specified	Uncertain significance (Jan 18, 2022)
4-190025758-G-A		not specified	Uncertain significance (May 26, 2022)
4-190025763-C-T		not specified	Likely benign (Dec 28, 2022)
4-190025764-G-A		not specified	Uncertain significance (Jul 06, 2021)
4-190025780-C-A		not specified	Uncertain significance (Jun 30, 2022)
4-190025854-T-C		not specified	Uncertain significance (Feb 15, 2023)
4-190025892-G-A		not specified	Uncertain significance (Oct 12, 2022)
4-190025914-G-A		not specified	Uncertain significance (Jun 22, 2021)
4-190025925-C-T		not specified	Uncertain significance (Jun 11, 2021)
4-190025952-G-A		not specified	Uncertain significance (Jan 19, 2022)
4-190025956-G-A		not specified	Uncertain significance (Mar 27, 2023)
4-190026391-G-T		not specified	Uncertain significance (Feb 05, 2024)
4-190026405-C-A		not specified	Uncertain significance (Feb 28, 2024)
4-190026423-T-C		not specified	Uncertain significance (Jan 21, 2025)
4-190026440-C-G		not specified	Uncertain significance (Sep 11, 2024)
4-190026440-C-T		not specified	Likely benign (Sep 06, 2022)
4-190027044-T-G		not specified	Uncertain significance (Oct 03, 2022)
4-190027191-T-G		not specified	Uncertain significance (Feb 03, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FRG2	protein_coding	protein_coding	ENST00000378763	4	2907

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.366	0.491	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0163	9	9.14	0.985	4.00e-7	1789
Missense in Polyphen		0	1.5286	0		407
Synonymous	0.520	1	1.92	0.522	8.20e-8	540
Loss of Function	0.812	0	0.768	0.00	3.27e-8	74

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
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	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.139
• ghis: 0.464

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0534

Mouse Genome Informatics

• Gene name: Frg2f9

Gene ontology

• Cellular component: nucleus