FAM185A

family with sequence similarity 185 member A

Basic information

Region (hg38): 7:102748971-102809225

Links

ENSG00000222011 ∙ NCBI:222234 ∙ ∙ HGNC:22412 ∙ Uniprot:Q8N0U4 ∙ 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 FAM185A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM185A 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			18	1		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	1	0

Variants in FAM185A

This is a list of pathogenic ClinVar variants found in the FAM185A region.

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

Position	Type	Phenotype	Significance	ClinVar
7-102749339-C-G		not specified	Uncertain significance (Aug 12, 2021)
7-102749406-T-G		not specified	Uncertain significance (Oct 17, 2023)
7-102749548-G-A		not specified	Uncertain significance (Jun 22, 2023)
7-102751692-G-T		not specified	Uncertain significance (Dec 19, 2023)
7-102751734-A-G		not specified	Uncertain significance (Dec 31, 2023)
7-102751761-T-C		not specified	Uncertain significance (Oct 29, 2021)
7-102751799-A-G		not specified	Uncertain significance (Nov 29, 2023)
7-102761283-T-C		not specified	Uncertain significance (Dec 18, 2023)
7-102761319-C-A		not specified	Uncertain significance (Dec 07, 2023)
7-102761321-G-A		not specified	Uncertain significance (Apr 16, 2024)
7-102761387-G-C		not specified	Uncertain significance (May 23, 2023)
7-102761390-A-T		not specified	Uncertain significance (Dec 11, 2023)
7-102772433-T-C		not specified	Uncertain significance (Aug 04, 2023)
7-102777253-A-G		not specified	Uncertain significance (Jan 09, 2023)
7-102777264-G-A		not specified	Uncertain significance (Dec 19, 2023)
7-102777286-A-C		not specified	Uncertain significance (Jul 27, 2022)
7-102777298-T-C		not specified	Uncertain significance (Jul 14, 2021)
7-102787400-G-T		not specified	Uncertain significance (Dec 01, 2022)
7-102787443-G-A		not specified	Likely benign (Aug 28, 2023)
7-102808313-C-T		not specified	Uncertain significance (Dec 19, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM185A	protein_coding	protein_coding	ENST00000413034	8	60255

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0407	0.954	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.48	116	170	0.682	0.00000786	2479
Missense in Polyphen		20	35.084	0.57007		552
Synonymous	1.56	53	69.5	0.762	0.00000327	802
Loss of Function	2.42	5	15.2	0.330	6.56e-7	228

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.418

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.242

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam185a

Gene ontology

• Cellular component: cytosol