KIAA1614

KIAA1614

Basic information

Region (hg38): 1:180912897-180951614

Links

ENSG00000135835 ∙ NCBI:57710 ∙ ∙ HGNC:29327 ∙ Uniprot:Q5VZ46 ∙ 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 KIAA1614 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIAA1614 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				2		2
missense			88	8	1	97
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	88	10	1

Variants in KIAA1614

This is a list of pathogenic ClinVar variants found in the KIAA1614 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-180913251-G-A		not specified	Uncertain significance (Dec 26, 2023)
1-180913275-C-T		not specified	Uncertain significance (Mar 23, 2022)
1-180916176-A-G		not specified	Uncertain significance (Jan 26, 2023)
1-180916216-G-A		not specified	Uncertain significance (May 01, 2024)
1-180916234-T-C		not specified	Likely benign (Aug 04, 2023)
1-180916237-A-T		not specified	Uncertain significance (May 04, 2023)
1-180916247-C-G		not specified	Uncertain significance (Sep 26, 2023)
1-180916405-T-C			Uncertain significance (Jul 01, 2023)
1-180916498-G-C		not specified	Uncertain significance (Aug 17, 2021)
1-180916518-G-A		not specified	Uncertain significance (Apr 22, 2022)
1-180916531-G-A		not specified	Likely benign (May 24, 2024)
1-180916587-G-T		not specified	Uncertain significance (Feb 27, 2023)
1-180916596-G-A		not specified	Uncertain significance (Sep 22, 2022)
1-180916657-C-T		not specified	Uncertain significance (Oct 05, 2023)
1-180916705-C-T		not specified	Likely benign (Nov 08, 2022)
1-180916741-T-C		not specified	Uncertain significance (Jul 25, 2023)
1-180916749-G-A		not specified	Uncertain significance (Mar 07, 2024)
1-180916762-G-A		not specified	Likely benign (Sep 20, 2023)
1-180916771-G-T		not specified	Uncertain significance (Aug 12, 2021)
1-180916785-A-G		not specified	Uncertain significance (Dec 27, 2022)
1-180916822-G-A		not specified	Uncertain significance (Aug 03, 2022)
1-180916911-G-C		not specified	Uncertain significance (Apr 04, 2023)
1-180916926-C-T		not specified	Uncertain significance (May 23, 2023)
1-180916989-C-T		not specified	Uncertain significance (Nov 15, 2021)
1-180916990-G-C		not specified	Uncertain significance (Oct 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIAA1614	protein_coding	protein_coding	ENST00000367588	9	38461

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.15e-15	0.443	124661	0	134	124795	0.000537

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.534	654	694	0.943	0.0000434	7495
Missense in Polyphen		136	169.7	0.80142		2005
Synonymous	0.766	290	307	0.944	0.0000202	2657
Loss of Function	1.56	29	39.6	0.732	0.00000218	427

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000801	0.000787
Ashkenazi Jewish	0.000100	0.0000993
East Asian	0.000171	0.000167
Finnish	0.0000468	0.0000464
European (Non-Finnish)	0.000865	0.000786
Middle Eastern	0.000171	0.000167
South Asian	0.000407	0.000392
Other	0.000723	0.000660

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.890
• rvis_EVS: 0.88
• rvis_percentile_EVS: 88.91

Haploinsufficiency Scores

• pHI: 0.134
• hipred: N
• hipred_score: 0.123
• ghis: 0.528

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0594

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: BC034090