FAM76B

family with sequence similarity 76 member B

Basic information

Region (hg38): 11:95768953-95790409

Links

ENSG00000077458 ∙ NCBI:143684 ∙ ∙ HGNC:28492 ∙ Uniprot:Q5HYJ3 ∙ 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 FAM76B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM76B 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			17	1		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	1	0

Variants in FAM76B

This is a list of pathogenic ClinVar variants found in the FAM76B region.

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

Position	Type	Phenotype	Significance	ClinVar
11-95771581-T-C		not specified	Uncertain significance (Dec 04, 2024)
11-95771646-T-C		not specified	Uncertain significance (Mar 01, 2024)
11-95771650-C-T		not specified	Uncertain significance (Feb 25, 2025)
11-95775958-C-G		not specified	Uncertain significance (May 26, 2023)
11-95778879-C-T		not specified	Uncertain significance (Sep 03, 2024)
11-95778950-T-C		not specified	Uncertain significance (Sep 08, 2024)
11-95779671-T-C		not specified	Likely benign (Nov 09, 2023)
11-95779894-C-G		not specified	Uncertain significance (May 06, 2024)
11-95783077-C-T		not specified	Uncertain significance (Feb 05, 2024)
11-95783095-T-G		not specified	Uncertain significance (Nov 27, 2023)
11-95783101-T-C		not specified	Uncertain significance (Feb 24, 2023)
11-95783144-T-C		not specified	Uncertain significance (Mar 23, 2023)
11-95783170-T-C		not specified	Uncertain significance (Oct 03, 2022)
11-95783197-T-C		not specified	Uncertain significance (Sep 26, 2024)
11-95783250-T-G		not specified	Uncertain significance (Mar 23, 2023)
11-95786141-C-T		not specified	Uncertain significance (Nov 13, 2024)
11-95788530-T-G		not specified	Uncertain significance (Aug 12, 2021)
11-95789429-G-A		not specified	Uncertain significance (Dec 27, 2022)
11-95789430-G-A		not specified	Uncertain significance (May 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM76B	protein_coding	protein_coding	ENST00000358780	10	21468

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.341	0.659	124779	0	9	124788	0.0000361

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.31	123	171	0.718	0.00000836	2235
Missense in Polyphen		35	59.498	0.58826		765
Synonymous	-2.46	82	58.1	1.41	0.00000276	566
Loss of Function	3.34	5	21.8	0.229	9.21e-7	293

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000308	0.0000308
Ashkenazi Jewish	0.000100	0.0000993
East Asian	0.0000566	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000536	0.0000530
Middle Eastern	0.0000566	0.0000556
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.274
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.4

Haploinsufficiency Scores

• pHI: 0.445
• hipred: N
• hipred_score: 0.289
• ghis: 0.621

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.729

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam76b

Gene ontology

• Cellular component: nuclear speck
• Molecular function: protein binding