OAF

out at first homolog

Basic information

Region (hg38): 11:120211031-120230334

Links

ENSG00000184232 ∙ NCBI:220323 ∙ ∙ HGNC:28752 ∙ Uniprot:Q86UD1 ∙ 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 OAF gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OAF 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					1	1
missense			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	0	1

Variants in OAF

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

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

Position	Type	Phenotype	Significance	ClinVar
11-120211289-C-G		not specified	Uncertain significance (May 27, 2022)
11-120211329-T-C		not specified	Uncertain significance (Mar 15, 2024)
11-120211337-C-T		not specified	Uncertain significance (Nov 12, 2021)
11-120211404-A-G		not specified	Uncertain significance (May 16, 2024)
11-120211440-C-G		not specified	Uncertain significance (Jan 03, 2024)
11-120225711-G-C		not specified	Uncertain significance (Oct 03, 2022)
11-120225716-A-G		not specified	Uncertain significance (Sep 12, 2023)
11-120226822-C-T		not specified	Uncertain significance (Oct 12, 2021)
11-120226826-G-A		not specified	Uncertain significance (Oct 22, 2021)
11-120226849-G-T		not specified	Uncertain significance (Nov 08, 2022)
11-120226853-G-A		not specified	Uncertain significance (Oct 12, 2022)
11-120226876-G-A		not specified	Uncertain significance (May 03, 2023)
11-120226889-A-G		not specified	Uncertain significance (Nov 09, 2022)
11-120226930-G-A		not specified	Uncertain significance (Feb 07, 2023)
11-120226939-G-A		not specified	Uncertain significance (Mar 30, 2024)
11-120226963-C-T		not specified	Uncertain significance (May 07, 2024)
11-120226969-G-A		not specified	Uncertain significance (Sep 20, 2023)
11-120228883-T-A		not specified	Uncertain significance (Apr 07, 2023)
11-120228927-C-G		not specified	Uncertain significance (Dec 15, 2022)
11-120228962-C-T			Benign (Mar 27, 2018)
11-120229023-C-G		not specified	Uncertain significance (Oct 29, 2021)
11-120229024-G-A		not specified	Uncertain significance (Oct 25, 2023)
11-120229029-C-T		not specified	Uncertain significance (Apr 25, 2022)
11-120229057-G-A		not specified	Uncertain significance (Sep 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OAF	protein_coding	protein_coding	ENST00000328965	4	19567

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00346	0.848	125714	0	24	125738	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.739	130	156	0.834	0.00000969	1738
Missense in Polyphen		55	61.958	0.8877		667
Synonymous	1.39	51	65.3	0.781	0.00000375	562
Loss of Function	1.21	5	8.89	0.563	3.78e-7	105

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000155	0.000155
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000548	0.0000544
Finnish	0.000520	0.000508
European (Non-Finnish)	0.0000538	0.0000527
Middle Eastern	0.0000548	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.504
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.51

Haploinsufficiency Scores

• pHI: 0.225
• hipred: N
• hipred_score: 0.354
• ghis: 0.520

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.281

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Oaf
• Phenotype: hematopoietic system phenotype; immune system phenotype