FAM120AOS

protein-coding

family with sequence similarity 120A opposite strand

Gene summary

Differences in the expression level of this gene are associated with the survival rate of those with glioma. [provided by RefSeq, May 2017]

Previous symbols:

C9orf10OS

MANE transcript

NM_198841.4

Inheritance

—

ClinVar variants

P:1U:37B:4

Top phenotype

Cutis laxa

gnomAD constraint

pLI —, LoF o/e 0.43

Max pathogenic AF

—

Genomic locus

chr9:93,431,441-93,453,581

External References & Databases

Ensembl (ENSG00000188938)

Transcript & Mutation Effects

hg38 • Region Span ~22.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FAM120AOS variants in ClinVar

11 Conditions Cataloged

not specifiedTotal: 43

not providedTotal: 4

Cutis laxaTotal: 1

HypotoniaTotal: 1

Pectus excavatumTotal: 1

ScoliosisTotal: 1

Hyperactive airwaysTotal: 1

Coarse facial featuresTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_198841.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense		1 clinvar	37 clinvar	2 clinvar		40
nonsense						0
start loss						0
frameshift				1 clinvar		1
splice donor/acceptor (+/-2bp)						0
Total	0	1	37	3	1	42

Highest pathogenic variant AF is 0.000039658837

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_198841.4	RefSeq	NP_942138.2	3	MANE Select
ENST00000375412.11	Ensembl	ENSP00000364561.5	3	MANE Select
NM_001322224.3	RefSeq	NP_001309153.1	3	Standard
ENST00000423591.5	Ensembl	ENSP00000414298.1	3	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000375412
Coding exons: 3
Length: 7099
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.741	127	153	0.831	0.00000725	1604
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.526
RVIS EVS: 0.97
RVIS percentile EVS: 90.23

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0139

Gene Damage Prediction

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