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, ENST00000380746, NP_715640, ENST00000264709, NP_001307822, ENST00000402667, NP_783329, ENST00000321117, NP_072046, NP_001307821, ENST00000380756, NP_783328
Statistics: ClinVar(273) gnomAD(2276) COSMIC(4620) PTM(34)
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 You are here now! ENST00000321117 You are here now! ENST00000380746 ENST00000380756 ENST00000402667 ENST00000406659 NP_001307821 NP_001307822 NP_001362748 NP_072046 You are here now! NP_715640 NP_783328 You are here now! 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 634-776 CL0063 NADP_Rossmann Homo sapiens
PF00855 PWWP PWWP domain 293-377 CL0049 Tudor Homo sapiens
PF17980 ADD_DNMT3 Cysteine rich ADD domain in DNMT3 475-530 CL0390 zf-FYVE-PHD Homo sapiens

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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