FAM193A

family with sequence similarity 193 member A

Basic information

Region (hg38): 4:2536647-2732573

Previous symbols: [ "C4orf8" ]

Links

ENSG00000125386 ∙ NCBI:8603 ∙ OMIM:620037 ∙ HGNC:16822 ∙ Uniprot:P78312 ∙ 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 FAM193A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM193A 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			52		1	53
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	52	0	1

Variants in FAM193A

This is a list of pathogenic ClinVar variants found in the FAM193A region.

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

Position	Type	Phenotype	Significance	ClinVar
4-2631033-C-T		not specified	Uncertain significance (Aug 16, 2022)
4-2631119-G-A		not specified	Uncertain significance (Nov 03, 2022)
4-2639841-C-T		not specified	Uncertain significance (Oct 26, 2021)
4-2646713-A-G		not specified	Uncertain significance (Jul 26, 2022)
4-2646722-A-G		not specified	Uncertain significance (Nov 27, 2023)
4-2646744-G-A		not specified	Uncertain significance (Nov 30, 2021)
4-2646771-G-T		not specified	Uncertain significance (Apr 08, 2024)
4-2657825-G-A		not specified	Uncertain significance (Aug 10, 2023)
4-2657874-A-T		not specified	Uncertain significance (Dec 03, 2021)
4-2659573-G-A		not specified	Uncertain significance (Oct 14, 2023)
4-2659628-G-A		not specified	Uncertain significance (Jun 11, 2021)
4-2659870-C-T		not specified	Uncertain significance (May 10, 2024)
4-2660027-T-A		not specified	Uncertain significance (Jun 07, 2024)
4-2660042-C-T		not specified	Uncertain significance (Oct 12, 2022)
4-2662902-A-G		not specified	Uncertain significance (Feb 06, 2023)
4-2662920-G-T		not specified	Uncertain significance (Jul 26, 2021)
4-2663154-G-A		not specified	Uncertain significance (Oct 03, 2023)
4-2663199-C-T		not specified	Uncertain significance (May 15, 2024)
4-2663220-G-A		not specified	Likely benign (Apr 23, 2024)
4-2663244-G-A		not specified	Uncertain significance (Apr 01, 2024)
4-2663247-A-G			Benign (Oct 09, 2018)
4-2672130-G-A		not specified	Uncertain significance (Dec 15, 2022)
4-2672182-C-T		not specified	Uncertain significance (Nov 07, 2022)
4-2672188-C-T		not specified	Uncertain significance (Jun 06, 2023)
4-2672202-G-A		not specified	Uncertain significance (May 16, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM193A	protein_coding	protein_coding	ENST00000324666	18	107305

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000669	125483	0	264	125747	0.00105

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.905	647	715	0.905	0.0000405	8361
Missense in Polyphen		322	378.46	0.85082		4438
Synonymous	-1.64	330	294	1.12	0.0000190	2415
Loss of Function	5.85	5	49.3	0.101	0.00000227	633

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000478	0.000464
Ashkenazi Jewish	0.00	0.00
East Asian	0.000400	0.000381
Finnish	0.00742	0.00621
European (Non-Finnish)	0.00103	0.000967
Middle Eastern	0.000400	0.000381
South Asian	0.0000681	0.0000653
Other	0.000359	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0877

Intolerance Scores

• loftool: 0.161
• rvis_EVS: 0.19
• rvis_percentile_EVS: 66.32

Haploinsufficiency Scores

• pHI: 0.113
• hipred: Y
• hipred_score: 0.654
• ghis: 0.533

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• 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: Fam193a