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.

• not_specified (126 variants)

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. These statistics are base on transcript: NM_001385016.1. 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						0
missense			120	6		126
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	120	6	0

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