DNMT3A (GeneID: 1788) | Homo sapiens
Description: DNA methyltransferase 3 alpha [Source:HGNC Symbol;Acc:HGNC:2978]
Synonyms: DNMT3A2, TBRS, M.HsaIIIA
Other ID(s): ENSG00000119772, HGNC:2978
Protein Accession Numbers: ENST00000264709.3, NP_001362748, ENST00000406659, NP_715640, ENST00000380746, ENST00000264709, NP_001307822, NP_783329, ENST00000402667, ENST00000321117, NP_072046, NP_001307821, NP_783328, ENST00000380756
Statistics: ClinVar(111) gnomAD(956) COSMIC(1759)
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.
ENST00000264709 ENST00000321117 ENST00000380746 ENST00000380756 ENST00000402667 ENST00000406659 NP_001307821 NP_001307822 NP_001362748 NP_072046 NP_715640 NP_783328 NP_783329


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
PF00145 DNA_methylase C-5 cytosine-specific DNA methylase 630-772 CL0063 NADP_Rossmann Mus musculus
PF00855 PWWP PWWP domain 289-373 CL0049 Tudor Mus musculus
PF17980 ADD_DNMT3 Cysteine rich ADD domain in DNMT3 471-526 CL0390 zf-FYVE-PHD Mus musculus

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Malignant neoplasm of breast Neoplasms ; Skin and Connective Tissue Diseases ; 0.507 0.69
Crohn Disease Digestive System Diseases ; 0.507 0.69
Cytopenia N/A 0.507 0.69
Growth Disorders Pathological Conditions, Signs and Symptoms ; 0.507 0.69
Profound Mental Retardation Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.507 0.69
Angioimmunoblastic Lymphadenopathy Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.507 0.69
Acute monocytic leukemia Neoplasms ; 0.507 0.69
Leukemia, Myelocytic, Acute Neoplasms ; 0.507 0.69
Leukemia, Myelomonocytic, Chronic Neoplasms ; Hemic and Lymphatic Diseases ; 0.507 0.69
Acute Promyelocytic Leukemia Neoplasms ; 0.507 0.69
Lung Neoplasms Neoplasms ; Respiratory Tract Diseases ; 0.507 0.69
Mental Retardation, Psychosocial Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.507 0.69
Acute Myeloid Leukemia, M1 Neoplasms ; 0.507 0.69
Neoplasm Recurrence, Local Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.507 0.69
Sezary Syndrome Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.507 0.69
Lymphoma, T-Cell, Cutaneous Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.507 0.69
Peripheral T-Cell Lymphoma Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.507 0.69
Crohn's disease of large bowel Digestive System Diseases ; 0.507 0.69
Congenital anemia N/A 0.507 0.69
Malignant neoplasm of lung Neoplasms ; Respiratory Tract Diseases ; 0.507 0.69
Crohn's disease of the ileum Digestive System Diseases ; 0.507 0.69
Facies Pathological Conditions, Signs and Symptoms ; 0.507 0.69
Juvenile Myelomonocytic Leukemia Neoplasms ; Hemic and Lymphatic Diseases ; 0.507 0.69
Granulomatous Slack Skin Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.507 0.69
Craniofacial Abnormalities Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.507 0.69
Regional enteritis Digestive System Diseases ; 0.507 0.69
Breast Carcinoma Neoplasms ; Skin and Connective Tissue Diseases ; 0.507 0.69
Mental deficiency Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.507 0.69
IIeocolitis Digestive System Diseases ; 0.507 0.69
Mammary Neoplasms, Human Neoplasms ; Skin and Connective Tissue Diseases ; 0.507 0.69
Mammary Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.507 0.69
Autism Spectrum Disorders Mental Disorders ; 0.507 0.69
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.507 0.69
Clear-cell metastatic renal cell carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.507 0.69
cocaine use N/A 0.507 0.69
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.507 0.69
TATTON-BROWN-RAHMAN SYNDROME N/A 0.507 0.69
NO RESULT FOUND
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