OXLD1

oxidoreductase like domain containing 1

Basic information

Region (hg38): 17:81665036-81666635

Previous symbols: [ "C17orf90" ]

Links

ENSG00000204237 ∙ NCBI:339229 ∙ ∙ HGNC:27901 ∙ Uniprot:Q5BKU9 ∙ 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 OXLD1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OXLD1 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in OXLD1

This is a list of pathogenic ClinVar variants found in the OXLD1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-81665247-G-C		not specified	Uncertain significance (Apr 08, 2022)
17-81665278-C-T		not specified	Uncertain significance (Aug 08, 2022)
17-81665364-C-T		not specified	Uncertain significance (May 26, 2023)
17-81665514-T-C		not specified	Uncertain significance (Sep 29, 2022)
17-81665542-G-A		not specified	Uncertain significance (Apr 17, 2024)
17-81665550-T-C		not specified	Uncertain significance (Dec 21, 2023)
17-81665578-G-C		not specified	Uncertain significance (Jan 09, 2024)
17-81665580-G-A		not specified	Uncertain significance (Jul 20, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OXLD1	protein_coding	protein_coding	ENST00000374741	2	1600

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.266	0.645	125433	0	8	125441	0.0000319

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.301	106	97.6	1.09	0.00000637	928
Missense in Polyphen		21	24.364	0.86192		268
Synonymous	0.150	42	43.3	0.971	0.00000324	314
Loss of Function	1.27	1	3.60	0.278	1.55e-7	38

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000711	0.0000706
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.24
• rvis_percentile_EVS: 68.98

Haploinsufficiency Scores

• pHI: 0.119
• hipred: N
• hipred_score: 0.123
• ghis: 0.462

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Oxld1