IGSF23

immunoglobulin superfamily member 23, the group of Immunoglobulin like domain containing

Basic information

Region (hg38): 19:44613563-44636781

Links

ENSG00000216588 ∙ NCBI:147710 ∙ ∙ HGNC:40040 ∙ Uniprot:A1L1A6 ∙ 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 IGSF23 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IGSF23 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			17	2		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	17	2	0

Variants in IGSF23

This is a list of pathogenic ClinVar variants found in the IGSF23 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-44613682-C-G		not specified	Uncertain significance (Jan 09, 2024)
19-44613695-G-C		not specified	Uncertain significance (Jan 03, 2024)
19-44613740-C-A		not specified	Uncertain significance (Nov 21, 2023)
19-44613754-T-C		not specified	Uncertain significance (Nov 08, 2021)
19-44613760-G-A		not specified	Uncertain significance (Feb 01, 2023)
19-44623738-G-A		not specified	Uncertain significance (Dec 13, 2022)
19-44623748-G-A		not specified	Likely benign (Nov 22, 2023)
19-44623808-A-G		not specified	Uncertain significance (Dec 16, 2021)
19-44623832-C-A		not specified	Uncertain significance (Apr 18, 2023)
19-44623877-G-A		not specified	Uncertain significance (Apr 01, 2024)
19-44623879-C-T		not specified	Uncertain significance (May 11, 2022)
19-44623880-G-A		not specified	Uncertain significance (Apr 12, 2022)
19-44627433-G-T		not specified	Uncertain significance (Aug 22, 2023)
19-44627449-C-T		not specified	Uncertain significance (Nov 29, 2023)
19-44627497-G-A		not specified	Uncertain significance (Aug 02, 2022)
19-44627507-C-T		not specified	Likely benign (Nov 02, 2023)
19-44627545-A-C		not specified	Uncertain significance (Jun 21, 2023)
19-44627549-G-A		not specified	Uncertain significance (May 23, 2023)
19-44635402-A-G		not specified	Uncertain significance (Jan 31, 2024)
19-44635421-G-A		not specified	Uncertain significance (Feb 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IGSF23	protein_coding	protein_coding	ENST00000402988	4	23142

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00966	0.831	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.820	81	105	0.774	0.00000530	1228
Missense in Polyphen		33	34.516	0.95607		389
Synonymous	1.23	31	41.0	0.756	0.00000225	408
Loss of Function	1.13	4	7.28	0.550	3.94e-7	86

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Mouse Genome Informatics

• Gene name: Igsf23

Gene ontology

• Cellular component: integral component of membrane