FAM184A

family with sequence similarity 184 member A, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 6:118959763-119149387

Previous symbols: [ "C6orf60" ]

Links

ENSG00000111879 ∙ NCBI:79632 ∙ ∙ HGNC:20991 ∙ Uniprot:Q8NB25 ∙ 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 FAM184A gene.

• not_specified (138 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM184A gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024581.6. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			134	4		138
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	134	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM184A	protein_coding	protein_coding	ENST00000338891	18	189625

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.06e-21	0.794	124678	0	116	124794	0.000465

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.13	487	562	0.866	0.0000279	7592
Missense in Polyphen		121	144.77	0.83582		2017
Synonymous	0.555	186	196	0.950	0.00000926	1955
Loss of Function	2.30	43	62.6	0.686	0.00000334	780

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000678	0.000670
Ashkenazi Jewish	0.0000995	0.0000993
East Asian	0.000620	0.000612
Finnish	0.000186	0.000186
European (Non-Finnish)	0.000633	0.000627
Middle Eastern	0.000620	0.000612
South Asian	0.000373	0.000360
Other	0.000676	0.000660

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0959

Intolerance Scores

• loftool: 0.967
• rvis_EVS: -0.22
• rvis_percentile_EVS: 37.66

Haploinsufficiency Scores

• pHI: 0.390
• hipred: N
• hipred_score: 0.347
• ghis: 0.540

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.385

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam184a

Gene ontology

• Biological process: biological_process
• Cellular component: extracellular space
• Molecular function: molecular_function;protein binding