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.

• not_specified (40 variants)
• not_provided (4 variants)
• Cutis_laxa (1 variants)
• Hypotonia (1 variants)
• Pectus_excavatum (1 variants)
• Scoliosis (1 variants)
• Hyperactive_airways (1 variants)
• Coarse_facial_features (1 variants)
• Chronic_lung_disease (1 variants)
• Bilateral_undescended_testicles (1 variants)
• Gastroesophageal_reflux (1 variants)

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. These statistics are base on transcript: NM_000198841.4. 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		1	34	2		37
nonsense						0
start loss						0
frameshift				1		1
splice donor/acceptor (+/-2bp)						0
Total	0	1	34	3	1

Highest pathogenic variant AF is 0.000039658837

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