FRG1BP

Gene

FSHD region gene 1 family member B, pseudogene

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

C20orf80
FRG1B

MANE transcript

N/A

Inheritance

—

ClinVar variants

—

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.6

Max pathogenic AF

—

Genomic locus

chr20:30,377,372-30,399,257

External References & Databases

Ensembl (ENSG00000149531)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FRG1BP variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000278882
Coding exons: 7
Length: 22154
Individuals with no LoFs: 125308
Homozygous LoFs: 0
Heterozygous LoFs: 134
Defined: 125442
p: 0.000534

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.21	43	72.0	0.597	0.00000316	1094
Missense (PolyPhen)		13	22.17	0.58639		365
Synonymous	0.815	17	21.8	0.778	0.00000102	254
Loss of Function	1.06	5	8.30	0.602	3.48e-7	132

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0051	0.0050	notable
Latino/Admixed American	0.000060	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00023	0.00022	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00038	0.00037	rare
South Asian	0.000033	0.000033	rare
Other	0.0010	0.00098	rare

dbNSFP Gene Annotations

Source: dbNSFP