KIAA1958

KIAA1958

Basic information

Region (hg38): 9:112486827-112669397

Links

ENSG00000165185 ∙ NCBI:158405 ∙ OMIM:617390 ∙ HGNC:23427 ∙ Uniprot:Q8N8K9 ∙ 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 KIAA1958 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIAA1958 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			16	2		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	2	0

Variants in KIAA1958

This is a list of pathogenic ClinVar variants found in the KIAA1958 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-112574243-G-T		not specified	Uncertain significance (Nov 01, 2022)
9-112574493-A-T		not specified	Uncertain significance (Sep 23, 2023)
9-112574537-G-C		not specified	Uncertain significance (Sep 16, 2021)
9-112574564-C-A		not specified	Uncertain significance (Sep 22, 2022)
9-112574591-G-T		not specified	Uncertain significance (Oct 25, 2022)
9-112574651-G-A		not specified	Likely benign (Nov 14, 2023)
9-112574723-G-A		not specified	Uncertain significance (Apr 18, 2023)
9-112574810-C-T		not specified	Uncertain significance (Dec 02, 2022)
9-112574861-A-T		not specified	Uncertain significance (Jun 06, 2023)
9-112574886-T-C		not specified	Uncertain significance (Feb 28, 2024)
9-112574918-A-G		not specified	Likely benign (Dec 03, 2021)
9-112574919-T-C		not specified	Uncertain significance (Apr 08, 2024)
9-112574995-G-C		not specified	Uncertain significance (May 01, 2024)
9-112575002-A-G		not specified	Uncertain significance (Mar 17, 2023)
9-112575107-C-G		not specified	Uncertain significance (Jun 30, 2022)
9-112575108-T-G		not specified	Uncertain significance (Feb 05, 2024)
9-112575209-G-A		not specified	Uncertain significance (Jun 02, 2024)
9-112575236-G-A		not specified	Uncertain significance (Aug 30, 2021)
9-112659570-G-A		not specified	Uncertain significance (Oct 26, 2021)
9-112659999-G-A		not specified	Uncertain significance (Jul 20, 2021)
9-112660042-G-C		not specified	Uncertain significance (Jun 11, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIAA1958	protein_coding	protein_coding	ENST00000337530	3	182551

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0112	0.987	125730	0	18	125748	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.24	342	413	0.828	0.0000237	4718
Missense in Polyphen		43	72.148	0.596		848
Synonymous	-0.155	170	167	1.02	0.0000102	1446
Loss of Function	2.75	7	20.4	0.343	9.62e-7	254

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000178	0.000178
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000706	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.000163	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.105
• rvis_EVS: -0.96
• rvis_percentile_EVS: 9.17

Haploinsufficiency Scores

• pHI: 0.202
• hipred: N
• hipred_score: 0.254
• ghis: 0.566

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.275

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: E130308A19Rik

Gene ontology

• Molecular function: protein binding