KIAA1328

KIAA1328

Basic information

Region (hg38): 18:36829106-37232172

Links

ENSG00000150477 ∙ NCBI:57536 ∙ OMIM:616480 ∙ HGNC:29248 ∙ Uniprot:Q86T90 ∙ 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 KIAA1328 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIAA1328 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			37	1	1	39
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1	1	2
non coding						0
Total	0	0	37	2	1

Variants in KIAA1328

This is a list of pathogenic ClinVar variants found in the KIAA1328 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-36829152-C-T		not specified	Uncertain significance (Jan 24, 2024)
18-36829157-C-T			Benign (Feb 02, 2018)
18-36829161-C-T		not specified	Uncertain significance (Sep 26, 2023)
18-36829179-C-A		not specified	Uncertain significance (May 24, 2023)
18-36835251-A-G		not specified	Uncertain significance (Mar 30, 2024)
18-36885549-T-A			Benign (Feb 02, 2018)
18-36885549-T-TTTA		KIAA1328-related disorder	Likely benign (Oct 07, 2022)
18-36885602-G-C		not specified	Uncertain significance (Jul 26, 2021)
18-36885609-T-A		not specified	Uncertain significance (Mar 27, 2023)
18-36885626-C-G		not specified	Uncertain significance (Aug 07, 2023)
18-36885667-G-A		not specified	Uncertain significance (Sep 14, 2023)
18-36959397-C-G		not specified	Uncertain significance (Nov 17, 2022)
18-36959400-T-G		not specified	Uncertain significance (Apr 23, 2024)
18-36959429-A-C		not specified	Uncertain significance (Jan 26, 2023)
18-37067071-A-G		not specified	Uncertain significance (May 31, 2023)
18-37067113-C-T		not specified	Uncertain significance (Apr 17, 2023)
18-37067118-T-C		not specified	Uncertain significance (Jan 31, 2024)
18-37067148-G-A		not specified	Uncertain significance (May 30, 2024)
18-37067214-A-C		not specified	Uncertain significance (Oct 26, 2022)
18-37067260-A-G		not specified	Uncertain significance (Nov 03, 2022)
18-37067290-A-C		not specified	Uncertain significance (Oct 14, 2021)
18-37067364-G-A		not specified	Likely benign (Dec 07, 2021)
18-37067371-A-G		not specified	Uncertain significance (Nov 10, 2022)
18-37067374-C-G		not specified	Uncertain significance (Apr 19, 2024)
18-37067460-C-G		not specified	Uncertain significance (Aug 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIAA1328	protein_coding	protein_coding	ENST00000280020	10	403067

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.30e-8	0.930	124621	0	18	124639	0.0000722

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.668	251	283	0.888	0.0000136	3717
Missense in Polyphen		57	71.625	0.79582		1128
Synonymous	0.562	93	100	0.929	0.00000462	1079
Loss of Function	1.85	16	26.2	0.610	0.00000124	373

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000227	0.000225
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000565	0.0000556
Finnish	0.0000939	0.0000928
European (Non-Finnish)	0.0000640	0.0000619
Middle Eastern	0.0000565	0.0000556
South Asian	0.000100	0.0000980
Other	0.000173	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Competes with SMC1 for binding to SMC3. May affect the availability of SMC3 to engage in the formation of multimeric protein complexes. {ECO:0000269|PubMed:15656913}.

Intolerance Scores

• loftool: 0.849
• rvis_EVS: 0.04
• rvis_percentile_EVS: 57.15

Haploinsufficiency Scores

• pHI: 0.324
• hipred: N
• hipred_score: 0.123
• ghis: 0.529

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.304

Mouse Genome Informatics

• Gene name: AW554918

Gene ontology

• Molecular function: protein binding