HOMEZ

homeobox and leucine zipper encoding, the group of ZF class homeoboxes and pseudogenes

Basic information

Region (hg38): 14:23272421-23299796

Previous symbols: [ "KIAA1443" ]

Links

ENSG00000290292 ∙ NCBI:57594 ∙ OMIM:608119 ∙ HGNC:20164 ∙ Uniprot:Q8IX15 ∙ 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 HOMEZ gene.

• Inborn genetic diseases (27 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HOMEZ 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			26	1		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	2	0

Variants in HOMEZ

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

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

Position	Type	Phenotype	Significance	ClinVar
14-23275671-C-G		not specified	Uncertain significance (Apr 20, 2023)
14-23275682-C-G		not specified	Uncertain significance (May 15, 2023)
14-23275717-G-A		not specified	Uncertain significance (May 17, 2023)
14-23275741-A-G		not specified	Uncertain significance (May 25, 2022)
14-23275799-G-A		not specified	Uncertain significance (Jan 08, 2024)
14-23275803-C-G		not specified	Uncertain significance (Jul 09, 2021)
14-23275864-G-A		not specified	Uncertain significance (Dec 17, 2021)
14-23275873-G-T		not specified	Uncertain significance (Nov 29, 2023)
14-23275901-G-A		not specified	Uncertain significance (Jan 09, 2024)
14-23275919-T-C		not specified	Uncertain significance (Jan 23, 2024)
14-23275967-C-G		not specified	Uncertain significance (Jan 03, 2024)
14-23276054-T-C		not specified	Uncertain significance (Jan 25, 2023)
14-23276080-C-T		not specified	Uncertain significance (Aug 17, 2021)
14-23276084-G-A		not specified	Uncertain significance (Mar 16, 2022)
14-23276103-A-T		not specified	Uncertain significance (Sep 14, 2022)
14-23276137-G-C		not specified	Uncertain significance (Sep 14, 2022)
14-23276162-G-A		not specified	Uncertain significance (Dec 19, 2022)
14-23276167-A-G		not specified	Uncertain significance (Jul 15, 2021)
14-23276221-C-A		not specified	Uncertain significance (Jun 16, 2023)
14-23276320-G-A		not specified	Uncertain significance (Sep 25, 2023)
14-23276390-T-C		not specified	Uncertain significance (May 31, 2023)
14-23276414-T-C		not specified	Uncertain significance (Dec 30, 2023)
14-23276440-G-A		not specified	Uncertain significance (Jun 11, 2021)
14-23276459-G-A		not specified	Uncertain significance (Dec 21, 2023)
14-23276468-C-T		not specified	Uncertain significance (Sep 26, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP