C18orf32

chromosome 18 open reading frame 32

Basic information

Region (hg38): 18:49477243-49487252

Links

ENSG00000177576 ∙ NCBI:497661 ∙ OMIM:619979 ∙ HGNC:31690 ∙ Uniprot:Q8TCD1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• glycosylphosphatidylinositol biosynthesis defect 25 (Limited), mode of inheritance: AR
• glycosylphosphatidylinositol biosynthesis defect 25 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Glycosylphosphatidylinositol biosynthesis defect 25	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Biochemical; Neurologic	35107634

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the C18orf32 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C18orf32 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			2			2
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	0	0

Variants in C18orf32

This is a list of pathogenic ClinVar variants found in the C18orf32 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-49482376-G-A		not specified	Uncertain significance (Aug 12, 2021)
18-49482409-C-A		not specified	Uncertain significance (Nov 15, 2021)
18-49483658-A-AG		Glycosylphosphatidylinositol biosynthesis defect 25	Uncertain significance (Aug 17, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C18orf32	protein_coding	protein_coding	ENST00000318240	2	5595

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.201	0.659	125649	0	6	125655	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.129	40	42.4	0.944	0.00000216	499
Missense in Polyphen		5	10.616	0.47098		147
Synonymous	0.0497	13	13.2	0.983	6.31e-7	137
Loss of Function	0.989	1	2.78	0.360	1.17e-7	34

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)	0.0000530	0.0000528
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May activate the NF-kappa-B signaling pathway. {ECO:0000269|PubMed:12761501}.

Intolerance Scores

• loftool: 0.486
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.11

Haploinsufficiency Scores

• pHI: 0.168
• hipred: N
• hipred_score: 0.206
• ghis: 0.560

Essentials

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

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low

Mouse Genome Informatics

• Gene name: BC031181

Gene ontology

• Biological process: positive regulation of I-kappaB kinase/NF-kappaB signaling