ConVarT

CBFB (GeneID: 865) | Homo sapiens

Description:	core-binding factor subunit beta [Source:HGNC Symbol;Acc:HGNC:1539]
Synonyms:	PEBP2B
Other ID(s):	HGNC:1539, ENSG00000067955
Protein Accession Numbers:	ENST00000563939, NP_074036, ENST00000290858, NP_001355638, ENST00000565389, ENST00000561924, NP_001746, NP_001355637, ENST00000564034, ENST00000412916, NP_001355639, NP_001355636
Statistics:

∙ 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.
ENST00000290858 ENST00000412916 ENST00000561924 ENST00000563939 ENST00000564034 ENST00000565389 NP_001355636 NP_001355637 NP_001355638 NP_001355639 NP_001746 NP_074036

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)

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
PF02312	CBF_beta	Core binding factor beta subunit	1-168			Mus musculus

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Bone Diseases, Developmental	Musculoskeletal Diseases ;	0.627	0.414
Malignant neoplasm of breast	Neoplasms ; Skin and Connective Tissue Diseases ;	0.627	0.414
Cleft Palate	Musculoskeletal Diseases ; Stomatognathic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.627	0.414
Congenital Heart Defects	Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.627	0.414
Leukemia, Myelocytic, Acute	Neoplasms ;	0.627	0.414
Acute myelomonocytic leukemia	Neoplasms ;	0.627	0.414
Acute Myeloid Leukemia, M1	Neoplasms ;	0.627	0.414
Heterotopic Ossification	Pathological Conditions, Signs and Symptoms ;	0.627	0.414
Cleft palate, isolated	Musculoskeletal Diseases ; Stomatognathic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.627	0.414
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.627	0.414
AML M4 Eo with inv(16) or t(16;16)	N/A	0.627	0.414
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data