FAM184A

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

Basic information

Region (hg38): 6:118959762-119149387

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.

• Inborn genetic diseases (45 variants)
• not provided (1 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.

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				1		1
missense			45			45
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	45	1	0

Variants in FAM184A

This is a list of pathogenic ClinVar variants found in the FAM184A region.

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

Position	Type	Phenotype	Significance	ClinVar
6-118960120-G-A		not specified	Uncertain significance (Jan 07, 2022)
6-118960130-C-G		not specified	Uncertain significance (Sep 22, 2023)
6-118960168-C-T		not specified	Uncertain significance (Oct 17, 2023)
6-118961863-C-T		not specified	Uncertain significance (May 18, 2023)
6-118961908-A-C		not specified	Uncertain significance (Sep 22, 2021)
6-118961958-C-G		not specified	Uncertain significance (Mar 01, 2024)
6-118966844-C-A		not specified	Uncertain significance (Nov 01, 2022)
6-118966900-T-C		not specified	Uncertain significance (Apr 26, 2023)
6-118974495-T-C		not specified	Uncertain significance (Sep 07, 2022)
6-118974540-T-C		not specified	Uncertain significance (Jan 03, 2024)
6-118975940-T-G		not specified	Uncertain significance (May 09, 2023)
6-118975948-A-G		not specified	Uncertain significance (May 27, 2022)
6-118975955-T-G		not specified	Uncertain significance (Aug 04, 2023)
6-118979445-A-G		not specified	Uncertain significance (Jun 29, 2023)
6-118980167-T-C		not specified	Uncertain significance (Feb 22, 2023)
6-118980199-A-G		not specified	Uncertain significance (Apr 12, 2023)
6-118980207-G-T		not specified	Uncertain significance (Jul 06, 2021)
6-118980242-G-T		not specified	Uncertain significance (Apr 06, 2023)
6-118980253-A-G		not specified	Uncertain significance (Jul 13, 2021)
6-118980257-G-A		not specified	Uncertain significance (Nov 21, 2023)
6-118980271-G-A		not specified	Uncertain significance (Jun 06, 2023)
6-118980284-G-C		not specified	Uncertain significance (Dec 13, 2022)
6-118980295-A-C		not specified	Uncertain significance (Feb 14, 2023)
6-118980331-T-C		not specified	Uncertain significance (Feb 22, 2023)
6-119002978-T-A		not specified	Uncertain significance (Dec 01, 2022)

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