ATOSA

atos homolog A

Basic information

Region (hg38): 15:52581317-52709817

Previous symbols: [ "KIAA1370", "FAM214A" ]

Links

ENSG00000047346 ∙ NCBI:56204 ∙ OMIM:620168 ∙ HGNC:25609 ∙ Uniprot:Q32MH5 ∙ 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 ATOSA gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ATOSA 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			49	3		52
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	50	3	0

Variants in ATOSA

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

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

Position	Type	Phenotype	Significance	ClinVar
15-52584928-T-C		not specified	Uncertain significance (Jan 19, 2024)
15-52587171-G-A		not specified	Uncertain significance (Jun 24, 2022)
15-52587218-C-T		not specified	Uncertain significance (Mar 18, 2024)
15-52600171-T-C		not specified	Uncertain significance (Apr 13, 2022)
15-52605156-C-T		not specified	Uncertain significance (Jun 29, 2022)
15-52605164-G-A		not specified	Uncertain significance (Dec 19, 2023)
15-52608621-T-C		not specified	Uncertain significance (Jul 05, 2023)
15-52608623-C-T		not specified	Likely benign (May 23, 2023)
15-52608731-T-C		not specified	Uncertain significance (Dec 15, 2022)
15-52608747-T-G		not specified	Uncertain significance (Feb 28, 2024)
15-52608818-T-C		not specified	Uncertain significance (Sep 28, 2022)
15-52608858-T-G		not specified	Uncertain significance (Nov 12, 2021)
15-52608949-C-G		not specified	Uncertain significance (Apr 13, 2022)
15-52608967-T-G		not specified	Uncertain significance (Sep 13, 2023)
15-52608975-T-C		not specified	Uncertain significance (Jun 06, 2023)
15-52609007-C-T		not specified	Likely benign (Jul 31, 2023)
15-52609027-C-A		not specified	Uncertain significance (May 04, 2022)
15-52609040-G-A		not specified	Uncertain significance (May 07, 2024)
15-52609056-T-G		not specified	Uncertain significance (Mar 08, 2024)
15-52609116-C-T		not specified	Uncertain significance (Apr 25, 2023)
15-52609223-C-T		not specified	Uncertain significance (Mar 22, 2023)
15-52609284-G-A		not specified	Uncertain significance (Sep 15, 2021)
15-52609325-A-G		not specified	Uncertain significance (Apr 27, 2024)
15-52609359-T-C		not specified	Uncertain significance (Apr 25, 2022)
15-52609380-C-A		not specified	Uncertain significance (Dec 08, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ATOSA	protein_coding	protein_coding	ENST00000261844	12	128501

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.445	0.555	124617	0	21	124638	0.0000842

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.938	484	546	0.887	0.0000274	7076
Missense in Polyphen		73	157.51	0.46348		1987
Synonymous	1.10	171	190	0.899	0.00000906	1997
Loss of Function	5.07	11	49.5	0.222	0.00000303	606

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000219	0.000218
Ashkenazi Jewish	0.0000998	0.0000994
East Asian	0.000168	0.000167
Finnish	0.0000930	0.0000928
European (Non-Finnish)	0.0000714	0.0000708
Middle Eastern	0.000168	0.000167
South Asian	0.0000655	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.6
• rvis_percentile_EVS: 82.9

Haploinsufficiency Scores

• pHI: 0.377
• hipred: N
• hipred_score: 0.371
• ghis: 0.445

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: Fam214a

Gene ontology

• Molecular function: protein binding