FAM204A

family with sequence similarity 204 member A

Basic information

Region (hg38): 10:118297925-118342328

Previous symbols: [ "C10orf84" ]

Links

ENSG00000165669 ∙ NCBI:63877 ∙ ∙ HGNC:25794 ∙ Uniprot:Q9H8W3 ∙ 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 FAM204A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM204A 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in FAM204A

This is a list of pathogenic ClinVar variants found in the FAM204A region.

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

Position	Type	Phenotype	Significance	ClinVar
10-118310904-C-T		not specified	Uncertain significance (Jul 26, 2021)
10-118311231-C-T		not specified	Uncertain significance (Jun 11, 2021)
10-118311276-T-C		not specified	Uncertain significance (Sep 01, 2021)
10-118335154-T-C		not specified	Uncertain significance (Mar 18, 2024)
10-118335180-C-G		not specified	Uncertain significance (Apr 13, 2023)
10-118335414-T-C		not specified	Uncertain significance (Dec 26, 2023)
10-118335566-G-A		not specified	Uncertain significance (Mar 31, 2023)
10-118335601-C-A		not specified	Uncertain significance (Jun 11, 2024)
10-118335627-C-A		not specified	Uncertain significance (May 13, 2024)
10-118336213-C-T		not specified	Uncertain significance (Apr 25, 2022)
10-118336255-G-C		not specified	Uncertain significance (Nov 22, 2023)
10-118336376-C-T		not specified	Uncertain significance (Jun 05, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM204A	protein_coding	protein_coding	ENST00000369183	7	36440

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00850	0.980	125721	0	11	125732	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.994	88	118	0.743	0.00000573	1548
Missense in Polyphen		13	36.601	0.35518		523
Synonymous	0.183	39	40.5	0.963	0.00000212	387
Loss of Function	2.21	6	15.3	0.392	7.96e-7	191

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000619	0.0000615
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.3
• rvis_percentile_EVS: 32.62

Haploinsufficiency Scores

• pHI: 0.119
• hipred: N
• hipred_score: 0.310
• ghis: 0.644

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam204a

Gene ontology

• Molecular function: protein binding