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: gnomAD(59) COSMIC(272)
gnomAD Variants By Annotation

∙ 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


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

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF02312 CBF_beta Core binding factor beta subunit 1-168 Mus musculus

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
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
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