OCIAD1

OCIA domain containing 1

Basic information

Region (hg38): 4:48805212-48861817

Links

ENSG00000109180 ∙ NCBI:54940 ∙ OMIM:619596 ∙ HGNC:16074 ∙ Uniprot:Q9NX40 ∙ 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 OCIAD1 gene.

• not_specified (29 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OCIAD1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017830.4. 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			28			28
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	28	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OCIAD1	protein_coding	protein_coding	ENST00000381473	8	56606

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.95e-7	0.790	125717	0	26	125743	0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.554	108	125	0.861	0.00000594	1587
Missense in Polyphen		22	37.57	0.58557		547
Synonymous	-0.790	47	40.6	1.16	0.00000187	442
Loss of Function	1.34	12	18.1	0.662	0.00000133	194

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000398	0.000397
Ashkenazi Jewish	0.00	0.00
East Asian	0.000170	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000905	0.0000879
Middle Eastern	0.000170	0.000163
South Asian	0.000170	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Maintains stem cell potency (By similarity). Increases STAT3 phosphorylation and controls ERK phosphorylation (By similarity). May act as a scaffold, increasing STAT3 recruitment onto endosomes (By similarity). Involved in integrin-mediated cancer cell adhesion and colony formation in ovarian cancer (PubMed:20515946). {ECO:0000250|UniProtKB:Q9CRD0, ECO:0000269|PubMed:20515946}.

Recessive Scores

• pRec: 0.0994

Intolerance Scores

• loftool: 0.992
• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.35

Haploinsufficiency Scores

• pHI: 0.0770
• hipred: N
• hipred_score: 0.338
• ghis: 0.655

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.865

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ociad1

Gene ontology

• Biological process: regulation of stem cell differentiation
• Cellular component: endosome;membrane
• Molecular function: protein binding