FAM91A1

family with sequence similarity 91 member A1

Basic information

Region (hg38): 8:123768439-123815452

Links

ENSG00000176853 ∙ NCBI:157769 ∙ ∙ HGNC:26306 ∙ Uniprot:Q658Y4 ∙ 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 FAM91A1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM91A1 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			38	2	1	41
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	38	2	1

Variants in FAM91A1

This is a list of pathogenic ClinVar variants found in the FAM91A1 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-123774100-A-T		not specified	Uncertain significance (Oct 19, 2024)
8-123774102-A-G		not specified	Uncertain significance (Feb 12, 2025)
8-123774135-G-A		not specified	Uncertain significance (Oct 20, 2023)
8-123774147-G-A		not specified	Uncertain significance (Dec 20, 2023)
8-123775164-G-T		not specified	Uncertain significance (Oct 29, 2024)
8-123775171-G-A		not specified	Uncertain significance (Jun 22, 2023)
8-123775180-A-G		not specified	Uncertain significance (Mar 03, 2022)
8-123775207-A-T		not specified	Uncertain significance (Jul 31, 2024)
8-123775264-T-C		not specified	Uncertain significance (Jan 09, 2024)
8-123778042-A-C		not specified	Uncertain significance (Nov 25, 2024)
8-123778683-C-G		not specified	Uncertain significance (Nov 11, 2024)
8-123778726-C-T		not specified	Uncertain significance (Sep 14, 2023)
8-123779991-A-G		not specified	Uncertain significance (Aug 19, 2024)
8-123780041-A-T		not specified	Uncertain significance (Feb 28, 2023)
8-123785111-C-A		not specified	Uncertain significance (Jul 06, 2024)
8-123785635-G-A		not specified	Uncertain significance (Mar 07, 2024)
8-123785651-G-A		not specified	Uncertain significance (Feb 03, 2022)
8-123786542-A-C		not specified	Uncertain significance (Aug 17, 2021)
8-123787318-C-T		not specified	Uncertain significance (Aug 21, 2024)
8-123787756-T-C			Benign (Feb 20, 2018)
8-123789623-C-T		not specified	Uncertain significance (Mar 27, 2023)
8-123789661-C-T		not specified	Uncertain significance (Dec 17, 2023)
8-123789698-A-G		not specified	Uncertain significance (Jun 09, 2022)
8-123798101-G-A		not specified	Uncertain significance (Apr 04, 2023)
8-123798204-A-G		not specified	Uncertain significance (Oct 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM91A1	protein_coding	protein_coding	ENST00000334705	24	46997

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000241	1.00	124766	0	27	124793	0.000108

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.16	312	440	0.710	0.0000221	5471
Missense in Polyphen		56	136.11	0.41143		1742
Synonymous	1.33	135	156	0.864	0.00000784	1600
Loss of Function	4.44	16	49.8	0.321	0.00000259	616

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000177	0.000177
Ashkenazi Jewish	0.0000993	0.0000993
East Asian	0.000168	0.000167
Finnish	0.00	0.00
European (Non-Finnish)	0.000117	0.000115
Middle Eastern	0.000168	0.000167
South Asian	0.000132	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: As component of the WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1. {ECO:0000269|PubMed:29426865}.
• Pathway: Gastric Cancer Network 2 (Consensus)

Intolerance Scores

• rvis_EVS: -0.62
• rvis_percentile_EVS: 17.31

Haploinsufficiency Scores

• pHI: 0.305
• hipred: Y
• hipred_score: 0.614
• ghis: 0.586

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.506

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam91a1
• Phenotype: reproductive system phenotype

Gene ontology

• Biological process: intracellular protein transport;vesicle tethering to Golgi
• Cellular component: trans-Golgi network;cytoplasmic vesicle
• Molecular function: protein binding