ConVarT

Cebpa (GeneID: 12606) | Mus musculus

Description:	CCAAT/enhancer binding protein (C/EBP), alpha [Source:MGI Symbol;Acc:MGI:99480]
Synonyms:	C/ebpalpha, Cebp, CBF-A
Other ID(s):	ENSMUSG00000034957, MGI:99480
Protein Accession Numbers:	NP_001274444, NP_001274452, NP_001274443, NP_001274450, NP_031704
Statistics:	ClinVar(391) PTM(12)

ClinVar Pathogenicity of Variations

Benign

Conflicting

Pathogenic

VUS

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000498907 NP_001272758 NP_001274353 NP_001274364 You are here now! NP_004355

ClinVar Data

Show entries

Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
No data available in table

Showing 0 to 0 of 0 entries

PreviousNext

Post-translational Modifications (PTMs)

Acetylation

Phosphorylation

Sumoylation

Ubiquitination

Show entries

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
CEBPA	P49715	Ubiquitination	161	K161-ub	ALRPLVIkQEPREED	37.56	22241412
CEBPA	P49715	Acetylation	161	K161-ac	ALRPLVIkQEPREED	37.56	11322333
CEBPA	P49715	Sumoylation	161	K161-sm	ALRPLVIkQEPREED	37.56	2793923
CEBPA	P49715	Phosphorylation	190	S190-p	PPPPPPPsHPHPHPP	37.56	457552
CEBPA	P49715	Phosphorylation	21	S21-p	PMSSHLQsPPHAPSS	37.56	448308
CEBPA	P49715	Phosphorylation	234	S234-p	PPPTPVPsPHPAPAL	37.56	447618
CEBPA	P49715	Phosphorylation	266	S266-p	AHPDLRAsGGSGAGK	37.56	36126660
CEBPA	P49715	Acetylation	298	K298-ac	RNNIAVRkSRDkAKQ	37.56	56394104
CEBPA	P49715	Acetylation	302	K302-ac	AVRkSRDkAKQRNVE	37.56	56394105
CEBPA	P49715	Ubiquitination	313	K313-ub	RNVETQQkVLELTSD	37.56	22241415
CEBPA	P49715	Acetylation	326	K326-ac	SDNDRLRkRVEQLsR	37.56	56394106
CEBPA	P49715	Phosphorylation	332	S332-p	RkRVEQLsRELDTLR	37.56	23087390

Showing 1 to 12 of 12 entries

Previous1Next

Catalogue of Somatic Mutations in Cancer (COSMIC)

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position

dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF07716	bZIP_2	Basic region leucine zipper	281-334	CL0018	bZIP	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Malignant neoplasm of skin	Neoplasms ; Skin and Connective Tissue Diseases ;	0.533	0.586
Squamous cell carcinoma	Neoplasms ;	0.533	0.586
Cytopenia	N/A	0.533	0.586
Pathological accumulation of air in tissues	Pathological Conditions, Signs and Symptoms ;	0.533	0.586
Head and Neck Neoplasms	Neoplasms ;	0.533	0.586
Head Neoplasms	Neoplasms ;	0.533	0.586
Female infertility	Female Urogenital Diseases and Pregnancy Complications ;	0.533	0.586
Leukemia, Myelocytic, Acute	Neoplasms ;	0.533	0.586
Acute Promyelocytic Leukemia	Neoplasms ;	0.533	0.586
Acute Myeloid Leukemia, M1	Neoplasms ;	0.533	0.586
Neck Neoplasms	Neoplasms ;	0.533	0.586
Neoplasms, Radiation-Induced	Neoplasms ; Wounds and Injuries ;	0.533	0.586
Obesity	Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ;	0.533	0.586
Precancerous Conditions	Neoplasms ;	0.533	0.586
Pulmonary Fibrosis	Respiratory Tract Diseases ;	0.533	0.586
Skin Neoplasms	Neoplasms ; Skin and Connective Tissue Diseases ;	0.533	0.586
Sterility, Postpartum	Female Urogenital Diseases and Pregnancy Complications ;	0.533	0.586
Hamman-Rich syndrome	Respiratory Tract Diseases ;	0.533	0.586
Congenital anemia	N/A	0.533	0.586
Malignant Head and Neck Neoplasm	Neoplasms ;	0.533	0.586
Condition, Preneoplastic	Neoplasms ;	0.533	0.586
Subfertility, Female	Female Urogenital Diseases and Pregnancy Complications ;	0.533	0.586
Hematologic Neoplasms	Neoplasms ; Hemic and Lymphatic Diseases ;	0.533	0.586
Cancer of Neck	Neoplasms ;	0.533	0.586
Cancer of Head	Neoplasms ;	0.533	0.586
Radiation-Induced Cancer	Neoplasms ; Wounds and Injuries ;	0.533	0.586
Upper Aerodigestive Tract Neoplasms	Neoplasms ;	0.533	0.586
Female sterility	Female Urogenital Diseases and Pregnancy Complications ;	0.533	0.586
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.533	0.586
Liver carcinoma	Neoplasms ; Digestive System Diseases ;	0.533	0.586
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO	N/A	0.533	0.586
MYELODYSPLASTIC SYNDROME	Hemic and Lymphatic Diseases ;	0.533	0.586
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data