ATOSB

atos homolog B

Basic information

Region (hg38): 9:35104112-35116341

Previous symbols: [ "KIAA1539", "FAM214B" ]

Links

ENSG00000005238 ∙ NCBI:80256 ∙ OMIM:620169 ∙ HGNC:25666 ∙ Uniprot:Q7L5A3 ∙ 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 ATOSB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ATOSB 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			52	2		54
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	52	2	0

Variants in ATOSB

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

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

Position	Type	Phenotype	Significance	ClinVar
9-35105249-T-A		not specified	Uncertain significance (Oct 26, 2021)
9-35105277-C-T		not specified	Uncertain significance (Dec 01, 2023)
9-35105310-G-A		not specified	Uncertain significance (Jun 05, 2023)
9-35105330-A-G		not specified	Uncertain significance (Sep 11, 2024)
9-35105734-C-T		not specified	Uncertain significance (Sep 08, 2024)
9-35105757-A-G		not specified	Uncertain significance (Jul 06, 2021)
9-35105763-T-C		not specified	Uncertain significance (Oct 29, 2021)
9-35105967-C-T		not specified	Uncertain significance (May 18, 2023)
9-35106003-C-T		not specified	Uncertain significance (May 02, 2023)
9-35106313-G-A		not specified	Uncertain significance (Oct 10, 2023)
9-35106359-T-C		not specified	Uncertain significance (Nov 30, 2022)
9-35106364-C-T		not specified	Uncertain significance (Mar 07, 2024)
9-35106373-T-G		not specified	Uncertain significance (Dec 03, 2024)
9-35106558-T-C		not specified	Uncertain significance (Dec 07, 2023)
9-35106561-G-A		not specified	Uncertain significance (Nov 09, 2022)
9-35106602-C-G		not specified	Uncertain significance (Nov 10, 2024)
9-35106628-G-T		not specified	Uncertain significance (Oct 04, 2022)
9-35106640-G-T		not specified	Uncertain significance (Jan 16, 2024)
9-35106842-C-T		not specified	Uncertain significance (Mar 20, 2023)
9-35106890-T-G		not specified	Uncertain significance (Dec 18, 2023)
9-35107481-C-T		not specified	Uncertain significance (May 07, 2024)
9-35107488-G-A		not specified	Uncertain significance (Feb 06, 2024)
9-35107491-G-A		not specified	Uncertain significance (Jan 30, 2024)
9-35107507-C-G		not specified	Uncertain significance (Nov 08, 2022)
9-35107580-G-C		not specified	Uncertain significance (Nov 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ATOSB	protein_coding	protein_coding	ENST00000378561	7	12230

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.802	0.198	125701	0	5	125706	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.22	253	314	0.807	0.0000187	3352
Missense in Polyphen		63	104.9	0.60057		1258
Synonymous	0.888	112	125	0.899	0.00000652	1228
Loss of Function	3.34	3	18.5	0.162	0.00000104	201

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000938	0.0000938
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000305	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0930

Intolerance Scores

• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.77

Haploinsufficiency Scores

• pHI: 0.649
• hipred: N
• hipred_score: 0.376
• ghis: 0.547

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: Fam214b

Gene ontology

• Cellular component: nucleus
• Molecular function: protein binding