ConVarT

CEBPA (GeneID: 717153) | Macaca mulatta

Description:	CCAAT enhancer binding protein alpha [Source:NCBI gene;Acc:717153]
Synonyms:
Other ID(s):	ENSMMUG00000006124
Protein Accession Numbers:	XP_014978995
Statistics:	ClinVar(414) PTM(12)

ClinVar Pathogenicity of Variations

∙ 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 You are here now! NP_001274364 NP_004355

ClinVar Data

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

gnomAD

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter

Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

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