KIAA0408

KIAA0408

Basic information

Region (hg38): 6:127438406-127459389

Links

ENSG00000189367 ∙ NCBI:9729 ∙ OMIM:619236 ∙ HGNC:21636 ∙ Uniprot:Q6ZU52 ∙ 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 KIAA0408 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIAA0408 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			30	6		36
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	7	0

Variants in KIAA0408

This is a list of pathogenic ClinVar variants found in the KIAA0408 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-127444150-T-C		not specified	Uncertain significance (Mar 06, 2023)
6-127444158-G-A		not specified	Uncertain significance (Aug 08, 2022)
6-127444164-C-T		not specified	Uncertain significance (Mar 25, 2024)
6-127444216-G-A		not specified	Uncertain significance (Jul 14, 2023)
6-127444239-C-T		not specified	Uncertain significance (May 11, 2022)
6-127444257-T-C		not specified	Uncertain significance (Mar 03, 2022)
6-127444264-C-T		not specified	Likely benign (Sep 27, 2021)
6-127446424-G-A		not specified	Uncertain significance (Dec 15, 2021)
6-127446434-C-G		not specified	Uncertain significance (Sep 12, 2023)
6-127446455-C-T		not specified	Uncertain significance (Jun 10, 2024)
6-127446514-C-T		not specified	Uncertain significance (Oct 03, 2022)
6-127446606-C-G		not specified	Uncertain significance (Apr 01, 2024)
6-127446631-A-G		not specified	Uncertain significance (Apr 18, 2023)
6-127446725-T-C		not specified	Uncertain significance (Oct 10, 2023)
6-127446727-C-A		not specified	Uncertain significance (Jun 22, 2024)
6-127446820-T-A		not specified	Uncertain significance (Oct 12, 2021)
6-127446913-G-A		not specified	Uncertain significance (Oct 29, 2021)
6-127447008-C-A		not specified	Uncertain significance (Feb 28, 2023)
6-127447068-C-G		not specified	Likely benign (Dec 23, 2022)
6-127447075-A-C		not specified	Uncertain significance (Aug 16, 2021)
6-127447241-T-A		not specified	Uncertain significance (Dec 27, 2023)
6-127447267-G-C		not specified	Uncertain significance (Nov 10, 2023)
6-127447328-A-G		not specified	Uncertain significance (May 31, 2023)
6-127447337-C-T		not specified	Uncertain significance (Dec 09, 2023)
6-127447340-C-T		not specified	Uncertain significance (Apr 11, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIAA0408	protein_coding	protein_coding	ENST00000483725	5	19049

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.87e-7	0.992	124480	0	34	124514	0.000137

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0843	366	371	0.988	0.0000185	4649
Missense in Polyphen		83	89.565	0.92671		1182
Synonymous	-1.03	148	133	1.11	0.00000711	1240
Loss of Function	2.39	15	28.9	0.520	0.00000157	340

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000392	0.000391
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000117	0.000117
Middle Eastern	0.0000544	0.0000544
South Asian	0.000334	0.000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.934
• rvis_EVS: -0.66
• rvis_percentile_EVS: 15.95

Haploinsufficiency Scores

• pHI: 0.370
• hipred: N
• hipred_score: 0.145
• ghis: 0.540

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 9330159F19Rik

Gene ontology

• Molecular function: protein binding