FAM120AOS

family with sequence similarity 120A opposite strand

Basic information

Region (hg38): 9:93431441-93453581

Previous symbols: [ "C9orf10OS" ]

Links

ENSG00000188938 ∙ NCBI:158293 ∙ ∙ HGNC:23389 ∙ Uniprot:Q5T036 ∙ 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 FAM120AOS gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM120AOS 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			11	1	1	13
nonsense						0
start loss						0
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2		2	4
Total	0	0	13	2	4

Variants in FAM120AOS

This is a list of pathogenic ClinVar variants found in the FAM120AOS region.

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

Position	Type	Phenotype	Significance	ClinVar
9-93447616-T-C		not specified	Likely benign (Sep 14, 2023)
9-93447639-G-A		9 conditions	Likely pathogenic (Dec 01, 2014)
9-93450490-G-T		not specified	Uncertain significance (Feb 28, 2024)
9-93450520-G-T		not specified	Uncertain significance (Dec 27, 2022)
9-93450526-G-A		not specified	Uncertain significance (Apr 25, 2023)
9-93450570-C-A		not specified	Uncertain significance (Sep 25, 2023)
9-93450574-T-G		not specified	Uncertain significance (Jul 09, 2021)
9-93451378-G-T			Benign (Oct 27, 2018)
9-93451539-C-T			Benign (Jul 05, 2018)
9-93452022-G-A		not specified	Uncertain significance (Apr 05, 2023)
9-93452028-G-A		not specified	Uncertain significance (Sep 14, 2022)
9-93452212-G-C		not specified	Uncertain significance (Mar 30, 2024)
9-93452218-G-T		not specified	Uncertain significance (May 31, 2023)
9-93452242-C-G		not specified	Uncertain significance (Mar 30, 2024)
9-93452248-G-C		not specified	Uncertain significance (Mar 30, 2024)
9-93452317-A-C		not specified	Likely benign (Mar 30, 2024)
9-93452405-C-T		not specified	Uncertain significance (Jan 19, 2022)
9-93452406-G-C		not specified	Uncertain significance (Jun 09, 2022)
9-93452439-CT-C			Likely benign (Dec 31, 2019)
9-93452516-C-T		not specified	Uncertain significance (Aug 04, 2023)
9-93452520-A-G		not specified	Uncertain significance (Jun 03, 2024)
9-93452547-T-C		not specified	Uncertain significance (Nov 27, 2023)
9-93452578-C-G		not specified	Uncertain significance (Oct 03, 2022)
9-93452581-A-G			Benign (Jul 14, 2018)
9-93452646-G-A			Benign (Jul 09, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM120AOS	protein_coding	protein_coding	ENST00000375412	3	7099

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0223	0.917	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.741	127	153	0.831	0.00000725	1604
Missense in Polyphen		1	2.0846	0.4797		16
Synonymous	1.15	57	69.2	0.824	0.00000335	558
Loss of Function	1.60	4	9.25	0.432	4.51e-7	86

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

Intolerance Scores

• loftool: 0.526
• rvis_EVS: 0.97
• rvis_percentile_EVS: 90.23

Haploinsufficiency Scores

• pHI: 0.122
• hipred: N
• hipred_score: 0.237

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0139

Gene Damage Prediction

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