OCEL1

protein-coding

occludin/ELL domain containing 1

Gene summary

Predicted to be involved in bicellular tight junction assembly. Predicted to be active in apical plasma membrane; bicellular tight junction; and cytoplasmic vesicle. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_024578.3

Inheritance

ClinVar variants

U:56B:15

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.62

Max pathogenic AF

—

Genomic locus

chr19:17,226,213-17,229,219

External References & Databases

Ensembl (ENSG00000099330)

Transcript & Mutation Effects

hg38 • Region Span ~3.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

Aicardi syndromeLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0010568

Submitter: Illumina

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to OCEL1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 54

not providedTotal: 9

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024578.3. 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	3 clinvar	4
missense			51 clinvar	7 clinvar	2 clinvar	60
nonsense			3 clinvar			3
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar		2 clinvar	4
Total	0	0	56	8	7	71

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 38 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024578.3	RefSeq	NP_078854.1	6	MANE Select
ENST00000215061.9	Ensembl	ENSP00000215061.3	6	MANE Select
ENST00000595573.1	Ensembl	ENSP00000470883.1	3	Standard
ENST00000597836.5	Ensembl	ENSP00000470270.1	5	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000215061
Coding exons: 6
Length: 3016
Individuals with no LoFs: 125227
Homozygous LoFs: 10
Heterozygous LoFs: 510
Defined: 125747
p: 0.00207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.336	158	147	1.08	0.00000774	1668
Missense (PolyPhen)		44	45.898	0.95865		523
Synonymous	-0.685	70	63.1	1.11	0.00000344	542
Loss of Function	1.19	7	11.3	0.619	5.64e-7	131

Population LoF Frequency

Population	CAF	p-value	Status
African	0.033	0.027	notable
Latino/Admixed American	0.0017	0.0012	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.00044	0.00042	rare
European (Non-Finnish)	0.00020	0.00018	rare
South Asian	0.00024	0.00023	rare
Other	0.0024	0.0020	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0802

Intolerance Scores

LoFtool: 0.806
RVIS EVS: 0.71
RVIS percentile EVS: 85.68

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0417

Gene Damage Prediction

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