CZIB

CXXC motif containing zinc binding protein

Basic information

Region (hg38): 1:53214098-53220634

Previous symbols: [ "C1orf123" ]

Links

ENSG00000162384 ∙ NCBI:54987 ∙ ∙ HGNC:26059 ∙ Uniprot:Q9NWV4 ∙ 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 CZIB gene.

• Carnitine palmitoyltransferase II deficiency (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CZIB 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1	1	1	3
Total	0	0	1	1	1

Variants in CZIB

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

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

Position	Type	Phenotype	Significance	ClinVar
1-53214194-T-TGAA		Carnitine palmitoyltransferase II deficiency	Uncertain significance (Jun 14, 2016)
1-53214202-G-T		Carnitine palmitoyltransferase II deficiency	Likely benign (Jun 14, 2016)
1-53214206-T-C		Carnitine palmitoyltransferase II deficiency	Benign (Jun 14, 2016)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CZIB	protein_coding	protein_coding	ENST00000294360	8	6519

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000122	0.376	125637	0	111	125748	0.000441

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0580	89	90.6	0.983	0.00000467	1060
Missense in Polyphen		28	28.141	0.995		378
Synonymous	-0.653	38	33.2	1.14	0.00000161	281
Loss of Function	0.500	10	11.9	0.843	5.01e-7	141

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000824	0.000815
Ashkenazi Jewish	0.00	0.00
East Asian	0.00136	0.00136
Finnish	0.000141	0.000139
European (Non-Finnish)	0.000151	0.000149
Middle Eastern	0.00136	0.00136
South Asian	0.00147	0.00147
Other	0.000491	0.000489

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.519
• rvis_EVS: 0.22
• rvis_percentile_EVS: 67.92

Haploinsufficiency Scores

• pHI: 0.193
• hipred: N
• hipred_score: 0.389
• ghis: 0.514

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 0610037L13Rik

Gene ontology

• Biological process: biological_process
• Molecular function: molecular_function;zinc ion binding