OCIAD2

OCIA domain containing 2

Basic information

Region (hg38): 4:48885019-48906937

Links

ENSG00000145247 ∙ NCBI:132299 ∙ OMIM:619633 ∙ HGNC:28685 ∙ Uniprot:Q56VL3 ∙ 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 OCIAD2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OCIAD2 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			13	1		14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	1	0

Variants in OCIAD2

This is a list of pathogenic ClinVar variants found in the OCIAD2 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-48885509-C-G		not specified	Uncertain significance (Aug 14, 2023)
4-48885525-C-T		not specified	Uncertain significance (Sep 14, 2022)
4-48885557-A-G		not specified	Uncertain significance (Jan 30, 2024)
4-48892787-C-T		not specified	Uncertain significance (May 24, 2024)
4-48892803-G-A		not specified	Uncertain significance (Feb 21, 2024)
4-48892834-C-G		not specified	Uncertain significance (Jul 13, 2022)
4-48892839-A-G		not specified	Uncertain significance (Aug 17, 2021)
4-48892841-A-G		not specified	Uncertain significance (Aug 16, 2022)
4-48892851-A-G		not specified	Uncertain significance (Jun 21, 2023)
4-48894042-C-G		not specified	Uncertain significance (Jul 06, 2022)
4-48904530-C-A		not specified	Uncertain significance (Dec 21, 2022)
4-48904530-C-T		not specified	Likely benign (Apr 12, 2024)
4-48904531-G-A		not specified	Uncertain significance (Aug 09, 2021)
4-48904533-G-A		not specified	Uncertain significance (Sep 27, 2022)
4-48904539-G-A		not specified	Likely benign (Jan 31, 2023)
4-48904546-C-T		not specified	Uncertain significance (Apr 12, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OCIAD2	protein_coding	protein_coding	ENST00000508632	6	21919

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000353	0.607	125700	0	48	125748	0.000191

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.289	74	81.3	0.910	0.00000403	997
Missense in Polyphen		25	28.862	0.86618		380
Synonymous	0.780	22	27.2	0.810	0.00000126	283
Loss of Function	0.777	8	10.7	0.744	6.30e-7	116

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000342	0.000313
Ashkenazi Jewish	0.00	0.00
East Asian	0.000625	0.000598
Finnish	0.0000938	0.0000924
European (Non-Finnish)	0.000205	0.000202
Middle Eastern	0.000625	0.000598
South Asian	0.000135	0.000131
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0729

Intolerance Scores

• loftool: 0.809
• rvis_EVS: 0.59
• rvis_percentile_EVS: 82.45

Haploinsufficiency Scores

• pHI: 0.0721
• hipred: N
• hipred_score: 0.144
• ghis: 0.408

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ociad2

Gene ontology

• Biological process: response to bacterium
• Cellular component: endosome