CEBPZOS

CEBPZ opposite strand

Basic information

Region (hg38): 2:37196488-37216193

Previous symbols: [ "CEBPZ-AS1" ]

Links

ENSG00000218739NCBI:100505876HGNC:49288Uniprot:A8MTT3AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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
clinvar
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)2478523
2-37201821-T-G not specified Uncertain significance (Aug 26, 2022)2309070
2-37201874-G-T not specified Uncertain significance (Nov 25, 2024)3489950
2-37202787-C-T not specified Uncertain significance (Oct 05, 2023)3141884
2-37202812-C-T not specified Uncertain significance (Oct 19, 2021)2398507
2-37202814-T-A not specified Uncertain significance (Dec 16, 2023)3141883
2-37202819-A-G not specified Uncertain significance (Sep 24, 2024)2275741
2-37211011-C-G not specified Uncertain significance (Sep 20, 2023)3141882
2-37211013-G-T not specified Uncertain significance (Jan 22, 2025)3831267
2-37211023-A-T not specified Uncertain significance (Jan 22, 2025)3831266
2-37211036-T-G not specified Uncertain significance (Apr 12, 2022)2283029
2-37211055-G-A not specified Uncertain significance (Nov 20, 2024)3489949
2-37211916-T-A not specified Uncertain significance (Dec 14, 2023)3141881
2-37211927-T-C not specified Uncertain significance (Jul 20, 2022)2370585
2-37211971-T-C not specified Likely benign (Oct 04, 2024)3489946
2-37211988-A-C not specified Uncertain significance (Jun 26, 2023)2590769
2-37212007-T-C not specified Uncertain significance (Sep 17, 2021)2251246
2-37212008-C-T not specified Uncertain significance (Jul 05, 2023)2609542
2-37212035-C-T not specified Likely benign (Feb 14, 2025)3831256
2-37212347-A-G not specified Uncertain significance (May 08, 2024)3265698
2-37212351-C-T not specified Uncertain significance (Jul 19, 2023)2594417
2-37212383-T-C not specified Uncertain significance (Oct 13, 2023)3141880
2-37213915-C-T not specified Uncertain significance (Mar 03, 2025)3831272
2-37213951-T-G not specified Uncertain significance (Dec 03, 2024)3489940
2-37214908-C-T not specified Uncertain significance (Feb 22, 2023)2487865

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CEBPZOSprotein_codingprotein_codingENST00000402297 319706
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.01050.63200000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1254037.81.060.00000193529
Missense in Polyphen1612.5211.2778180
Synonymous0.6651013.10.7667.24e-7135
Loss of Function0.39233.830.7841.60e-764

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.170
ghis
0.535

Mouse Genome Informatics

Gene name
Cebpzos
Phenotype

Gene ontology

Biological process
Cellular component
integral component of membrane;mitochondrial membrane
Molecular function