CREBBP (GeneID: 1387) | Homo sapiens
Description: CREB binding protein [Source:HGNC Symbol;Acc:HGNC:2348]
Synonyms: RSTS1, CBP, RSTS, KAT3A
Other ID(s): HGNC:2348, ENSG00000005339
Protein Accession Numbers: ENST00000262367, NP_004371, ENST00000572134, ENST00000382070, NP_001073315, ENST00000571826, ENST00000262367.5, ENST00000573517, ENST00000570939
Statistics: ClinVar(547) COSMIC(1708) PTM(98)
ClinVar Pathogenicity of Variations help

∙ 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.
ENST00000262367 ENST00000382070 You are here now! ENST00000570939 ENST00000571826 ENST00000572134 ENST00000573517 NP_001073315 You are here now! NP_004371


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
PF00439 Bromodomain Bromodomain 1094-1180 Homo sapiens
PF00569 ZZ Zinc finger, ZZ type 1701-1742 CL0006 C1 Homo sapiens
PF02135 zf-TAZ TAZ zinc finger 354-430 Homo sapiens
PF02135 zf-TAZ TAZ zinc finger 1772-1843 Homo sapiens
PF02172 KIX KIX domain 587-667 CL0589 KIX_like Homo sapiens
PF06001 DUF902 Domain of Unknown Function (DUF902) 1192-1231 Homo sapiens
PF08214 HAT_KAT11 Histone acetylation protein 1342-1649 CL0257 Acetyltrans Homo sapiens
PF09030 Creb_binding Creb binding 2013-2114 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Bipolar Disorder Mental Disorders ; 0.451 0.862
Malignant neoplasm of urinary bladder Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.451 0.862
Bladder Neoplasm Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.451 0.862
Squamous cell carcinoma Neoplasms ; 0.451 0.862
Carcinoma, Transitional Cell Neoplasms ; 0.451 0.862
Adenoid Cystic Carcinoma Neoplasms ; 0.451 0.862
Endogenous depression Mental Disorders ; 0.451 0.862
Leukemia, Myelocytic, Acute Neoplasms ; 0.451 0.862
Lymphoma, Follicular Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.451 0.862
Lymphoma, Non-Hodgkin Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.451 0.862
Osteogenesis Imperfecta Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.451 0.862
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.451 0.862
Rubinstein-Taybi Syndrome Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.451 0.862
Schizophrenia Mental Disorders ; 0.451 0.862
Sezary Syndrome Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.451 0.862
Diffuse Large B-Cell Lymphoma Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.451 0.862
Lymphoma, Large-Cell, Follicular Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.451 0.862
Lymphoma, Mixed-Cell, Follicular Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.451 0.862
Lymphoma, Small Cleaved-Cell, Follicular Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.451 0.862
Small cell carcinoma of lung Neoplasms ; Respiratory Tract Diseases ; 0.451 0.862
Adenocarcinoma of lung (disorder) Neoplasms ; Respiratory Tract Diseases ; 0.451 0.862
Squamous cell carcinoma of esophagus Neoplasms ; Digestive System Diseases ; 0.451 0.862
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.451 0.862
Primary microcephaly N/A 0.451 0.862
AMYOTROPHIC LATERAL SCLEROSIS 1 Nervous System Diseases ; Nutritional and Metabolic Diseases ; 0.451 0.862
Amyotrophic Lateral Sclerosis, Sporadic Nervous System Diseases ; Nutritional and Metabolic Diseases ; 0.451 0.862
CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL N/A 0.451 0.862
Lymphoma, Follicular, Grade 1 Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.451 0.862
Lymphoma, Follicular, Grade 3 Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.451 0.862
Lymphoma, Follicular, Grade 2 Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.451 0.862
Precursor Cell Lymphoblastic Leukemia Lymphoma Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.451 0.862
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.451 0.862
Radial club hand N/A 0.451 0.862
Acute myeloid leukemia with t(8;16)(p11;p13) translocation N/A 0.451 0.862
NO RESULT FOUND
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