ATOSA

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			5 clinvar			5
missense			143 clinvar	7 clinvar		150
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	150	7	0	157

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 54 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001385016.1	RefSeq	NP_001371945.1	12	MANE Select
ENST00000619572.5	Ensembl	ENSP00000484641.1	12	MANE Select
NM_001286495.2	RefSeq	NP_001273424.1	12	Standard
NM_001385013.1	RefSeq	NP_001371942.1	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000261844
Coding exons: 12
Length: 128501
Individuals with no LoFs: 124617
Homozygous LoFs: 0
Heterozygous LoFs: 21
Defined: 124638
p: 0.0000842

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.938	484	546	0.887	0.0000274	7076
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00013	rare
Latino/Admixed American	0.000089	0.000087	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00017	0.00017	rare
Finnish	0.000093	0.000093	rare
European (Non-Finnish)	0.000071	0.000071	rare
South Asian	0.000065	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.6
RVIS percentile EVS: 82.9

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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