KAZN

kazrin, periplakin interacting protein, the group of Sterile alpha motif domain containing

Basic information

Region (hg38): 1:13892791-15118043

Previous symbols: [ "C1orf196" ]

Links

ENSG00000189337 ∙ NCBI:23254 ∙ OMIM:618301 ∙ HGNC:29173 ∙ Uniprot:Q674X7 ∙ 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 KAZN gene.

• Inborn genetic diseases (25 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KAZN 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			25			25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	0	0

Variants in KAZN

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

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

Position	Type	Phenotype	Significance	ClinVar
1-14599047-A-G		not specified	Uncertain significance (Jul 11, 2023)
1-14599101-G-C		not specified	Uncertain significance (Oct 13, 2023)
1-14599136-G-C		not specified	Uncertain significance (Jun 28, 2023)
1-14599215-G-C		not specified	Uncertain significance (Dec 01, 2022)
1-14960684-T-G		not specified	Uncertain significance (Jul 25, 2023)
1-14960792-C-A		not specified	Uncertain significance (Jan 03, 2024)
1-15034791-A-T		not specified	Uncertain significance (Aug 02, 2022)
1-15034835-C-T		not specified	Uncertain significance (Jan 29, 2024)
1-15044062-G-A		not specified	Uncertain significance (Jun 22, 2021)
1-15056259-C-G		not specified	Uncertain significance (Jan 23, 2023)
1-15056269-C-A		not specified	Uncertain significance (Jan 23, 2024)
1-15060281-C-A		not specified	Uncertain significance (Oct 25, 2022)
1-15060294-C-T		not specified	Uncertain significance (Jul 14, 2022)
1-15063584-G-A		not specified	Uncertain significance (Sep 17, 2021)
1-15094249-G-A		not specified	Uncertain significance (May 24, 2023)
1-15094260-G-A		not specified	Uncertain significance (Feb 06, 2024)
1-15094302-G-A		not specified	Uncertain significance (Jun 17, 2022)
1-15094879-G-A		not specified	Uncertain significance (Oct 05, 2021)
1-15101700-G-A		not specified	Uncertain significance (Dec 03, 2021)
1-15101742-G-A		not specified	Uncertain significance (Aug 22, 2023)
1-15103407-G-A		not specified	Uncertain significance (Sep 14, 2021)
1-15104036-A-G		not specified	Uncertain significance (Jun 22, 2023)
1-15104042-C-T		not specified	Uncertain significance (Jul 25, 2023)
1-15104053-G-A		not specified	Uncertain significance (Feb 27, 2023)
1-15112518-G-A		not specified	Uncertain significance (Sep 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KAZN	protein_coding	protein_coding	ENST00000376030	15	519340

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.597	0.403	125720	0	7	125727	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.31	350	495	0.708	0.0000326	4998
Missense in Polyphen		108	175.38	0.61582		1677
Synonymous	0.0474	216	217	0.996	0.0000150	1550
Loss of Function	4.50	8	37.9	0.211	0.00000202	396

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000622	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000468	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the cornified envelope of keratinocytes. May be involved in the interplay between adherens junctions and desmosomes. The function in the nucleus is not known. {ECO:0000269|PubMed:15337775}.
• Pathway: Keratinization;Developmental Biology;Formation of the cornified envelope (Consensus)

Intolerance Scores

• rvis_EVS: -0.51
• rvis_percentile_EVS: 21.77

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.560
• ghis: 0.547

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kazn
• Phenotype: homeostasis/metabolism phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan)

Gene ontology

• Biological process: cornification
• Cellular component: cornified envelope;nucleoplasm;cytosol;cytoskeleton;nuclear speck;desmosome
• Molecular function: protein binding