FAM81A

family with sequence similarity 81 member A

Basic information

Region (hg38): 15:59372693-59523555

Links

ENSG00000157470 ∙ NCBI:145773 ∙ ∙ HGNC:28379 ∙ Uniprot:Q8TBF8 ∙ 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 FAM81A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM81A 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			9	1		10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	1	0

Variants in FAM81A

This is a list of pathogenic ClinVar variants found in the FAM81A region.

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

Position	Type	Phenotype	Significance	ClinVar
15-59372764-G-C			Benign (Aug 20, 2019)
15-59372946-C-A			Benign (Nov 29, 2019)
15-59372979-A-C			Likely benign (Nov 29, 2019)
15-59373109-C-G			Benign (Jun 25, 2020)
15-59373198-C-T			Likely benign (Feb 22, 2020)
15-59459994-A-G		not specified	Uncertain significance (May 21, 2024)
15-59460021-A-T		not specified	Uncertain significance (Jan 10, 2022)
15-59460054-G-A		not specified	Uncertain significance (Aug 16, 2022)
15-59460177-A-G		not specified	Uncertain significance (Sep 14, 2023)
15-59508884-G-A		not specified	Uncertain significance (Nov 01, 2022)
15-59508923-A-T		not specified	Uncertain significance (Jul 25, 2023)
15-59508939-G-A		not specified	Uncertain significance (May 12, 2024)
15-59514274-A-AT		CIC-rearranged sarcoma	not provided (-)
15-59514336-G-A		not specified	Uncertain significance (Dec 13, 2022)
15-59514366-T-A		not specified	Uncertain significance (Dec 13, 2021)
15-59514423-G-C		not specified	Uncertain significance (Jul 05, 2023)
15-59516730-T-C		not specified	Uncertain significance (Oct 27, 2022)
15-59516742-G-C		not specified	Uncertain significance (Mar 15, 2024)
15-59516804-C-G		not specified	Likely benign (Jan 17, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM81A	protein_coding	protein_coding	ENST00000288228	8	150857

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.192	0.808	124615	0	8	124623	0.0000321

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.38	148	203	0.727	0.0000112	2445
Missense in Polyphen		49	70.466	0.69537		809
Synonymous	-0.218	74	71.7	1.03	0.00000402	645
Loss of Function	3.08	5	19.8	0.253	0.00000106	232

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000293	0.0000293
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000140	0.000139
European (Non-Finnish)	0.0000268	0.0000265
Middle Eastern	0.00	0.00
South Asian	0.0000332	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.448
• rvis_EVS: -0.25
• rvis_percentile_EVS: 35.75

Haploinsufficiency Scores

• pHI: 0.188
• hipred: Y
• hipred_score: 0.642
• ghis: 0.622

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.526

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam81a