CEBPZOS

CEBPZ opposite strand

Basic information

Region (hg38): 2:37196488-37216193

Previous symbols: [ "CEBPZ-AS1" ]

Links

ENSG00000218739 ∙ NCBI:100505876 ∙ ∙ HGNC:49288 ∙ Uniprot:A8MTT3 ∙ 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 CEBPZOS gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEBPZOS 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			7			7
Total	0	0	7	0	0

Variants in CEBPZOS

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

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

Position	Type	Phenotype	Significance	ClinVar
2-37201807-T-C		not specified	Uncertain significance (Jan 24, 2023)
2-37201821-T-G		not specified	Uncertain significance (Aug 26, 2022)
2-37201874-G-T		not specified	Uncertain significance (Nov 25, 2024)
2-37202787-C-T		not specified	Uncertain significance (Oct 05, 2023)
2-37202812-C-T		not specified	Uncertain significance (Oct 19, 2021)
2-37202814-T-A		not specified	Uncertain significance (Dec 16, 2023)
2-37202819-A-G		not specified	Uncertain significance (Sep 24, 2024)
2-37211011-C-G		not specified	Uncertain significance (Sep 20, 2023)
2-37211013-G-T		not specified	Uncertain significance (Jan 22, 2025)
2-37211023-A-T		not specified	Uncertain significance (Jan 22, 2025)
2-37211036-T-G		not specified	Uncertain significance (Apr 12, 2022)
2-37211055-G-A		not specified	Uncertain significance (Nov 20, 2024)
2-37211916-T-A		not specified	Uncertain significance (Dec 14, 2023)
2-37211927-T-C		not specified	Uncertain significance (Jul 20, 2022)
2-37211971-T-C		not specified	Likely benign (Oct 04, 2024)
2-37211988-A-C		not specified	Uncertain significance (Jun 26, 2023)
2-37212007-T-C		not specified	Uncertain significance (Sep 17, 2021)
2-37212008-C-T		not specified	Uncertain significance (Jul 05, 2023)
2-37212035-C-T		not specified	Likely benign (Feb 14, 2025)
2-37212347-A-G		not specified	Uncertain significance (May 08, 2024)
2-37212351-C-T		not specified	Uncertain significance (Jul 19, 2023)
2-37212383-T-C		not specified	Uncertain significance (Oct 13, 2023)
2-37213915-C-T		not specified	Uncertain significance (Mar 03, 2025)
2-37213951-T-G		not specified	Uncertain significance (Dec 03, 2024)
2-37214908-C-T		not specified	Uncertain significance (Feb 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEBPZOS	protein_coding	protein_coding	ENST00000402297	3	19706

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0105	0.632	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.125	40	37.8	1.06	0.00000193	529
Missense in Polyphen		16	12.521	1.2778		180
Synonymous	0.665	10	13.1	0.766	7.24e-7	135
Loss of Function	0.392	3	3.83	0.784	1.60e-7	64

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.170
• ghis: 0.535

Mouse Genome Informatics

• Gene name: Cebpzos

Gene ontology

• Cellular component: integral component of membrane;mitochondrial membrane