FRG1BP

FSHD region gene 1 family member B, pseudogene

Basic information

Previous symbols: [ "C20orf80", "FRG1B" ]

Links

ENSG00000149531 ∙ NCBI:284802 ∙ ∙ HGNC:15792 ∙ ∙ ∙ 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 FRG1BP gene.

• not specified (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FRG1BP 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					6	6
Total	0	0	0	0	6

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FRG1BP	protein_coding	protein_coding	ENST00000278882	7	22154

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00264	0.805	125308	0	134	125442	0.000534

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.21	43	72.0	0.597	0.00000316	1094
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00512	0.00504
Ashkenazi Jewish	0.00	0.00
East Asian	0.000227	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000376	0.000370
Middle Eastern	0.000227	0.000217
South Asian	0.0000332	0.0000327
Other	0.000995	0.000982

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.128
• hipred: N
• hipred_score: 0.187
• ghis: 0.532