AutismKB 2.0

Annotation Detail for DNMT3A


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Basic Information Top
Gene Symbol:DNMT3A ( DNMT3A2,M.HsaIIIA )
Gene Full Name: DNA (cytosine-5-)-methyltransferase 3 alpha
Band: 2p23.3
Quick LinksEntrez ID:1788; OMIM: 602769; Uniprot ID:DNM3A_HUMAN; ENSEMBL ID: ENSG00000119772; HGNC ID: 2978
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
105Phosphoserine.
Location(AA) Modifications Resource
102Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
9O-linkedHMM predict
41Phosphothreonine(PKC)HMM predict
72Phosphoserine(CDC2)HMM predict
74Phosphoserine(IKK)HMM predict
102O-linkedHMM predict
121Phosphothreonine(PKC)HMM predict
164MethylarginineHMM predict
193Phosphotyrosine(Jak)HMM predict
194Phosphotyrosine(EGFR)HMM predict
233Phosphoserine(ATM)HMM predict
248O-linkedHMM predict
252O-linkedHMM predict
254O-linkedHMM predict
254O-linkedHMM predict
257O-linkedHMM predict
258Phosphothreonine(MAPK)HMM predict
258O-linkedHMM predict
258O-linkedHMM predict
258Phosphothreonine(CDC2)HMM predict
270N-linkedHMM predict
281SulfotyrosineHMM predict
281Phosphotyrosine(INSR)HMM predict
281Phosphotyrosine(SRC)HMM predict
390Phosphoserine(CK2)HMM predict
429Phosphotyrosine(Syk)HMM predict
429Phosphotyrosine(SRC)HMM predict
433Phosphotyrosine(Syk)HMM predict
445Phosphotyrosine(Abl)HMM predict
498N-linkedHMM predict
530Phosphotyrosine(Syk)HMM predict
537S-palmitoylHMM predict
538S-palmitoylHMM predict
657Phosphotyrosine(Jak)HMM predict
688Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022552
  • Location:chr2 25309349-25418277
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 25353664 25353854 190 0
CTCF CD4SISSRdata 25353664 25353854 190 0
CTCF G2GSE9613 25333523 25333757 234 0
CTCF G2GSE9613 25351450 25351638 188 0
CTCF G2GSE9613 25353319 25353734 415 0
ER MCF7GSE19013 25354330 25354804 474 0
NFkBII GM12878GSE19485 25349505 25352419 2914 0
Oct1 H2O2-HelaGSE14283 25335322 25335363 41 0
Oct1 H2O2-HelaGSE14283 25347997 25348023 26 0
Oct1 H2O2-HelaGSE14283 25357131 25357157 26 0
Oct1 HelaGSE14283 25335324 25335369 45 0
USF1 HepG2E 25329159 25330120 961 0
USF1 HepG2E 25330577 25331336 759 0
USF1 HepG2E 25331826 25332794 968 0
p63 keratinocytesGSE17611 25355032 25356069 1037 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7f hsa-let-7f-1 9 21136442
hsa-let-7f hsa-let-7f-2 X 21136442
hsa-miR-143 hsa-mir-143 5 19638978
hsa-miR-143* hsa-mir-143 5 19638978
hsa-miR-16 hsa-mir-16-1 13 20643754
hsa-miR-16 hsa-mir-16-2 3 20643754
hsa-miR-17 hsa-mir-17 13 20643754
hsa-miR-17* hsa-mir-17 13 20643754
hsa-miR-29a hsa-mir-29a 7 21081840
hsa-miR-29a hsa-mir-29a 7 20643754
hsa-miR-29a hsa-mir-29a 7 20478395
hsa-miR-29a hsa-mir-29a 7 17890317
hsa-miR-29a* hsa-mir-29a 7 21081840
hsa-miR-29a* hsa-mir-29a 7 20643754
hsa-miR-29a* hsa-mir-29a 7 20478395
hsa-miR-29a* hsa-mir-29a 7 17890317
hsa-miR-29b hsa-mir-29b-1 7 21081840
hsa-miR-29b hsa-mir-29b-2 1 21081840
hsa-miR-29b hsa-mir-29b-1 7 20643754
hsa-miR-29b hsa-mir-29b-2 1 20643754
hsa-miR-29b hsa-mir-29b-1 7 19509302
hsa-miR-29b hsa-mir-29b-2 1 19509302
hsa-miR-29b hsa-mir-29b-1 7 19211935
hsa-miR-29b hsa-mir-29b-2 1 19211935
hsa-miR-29b hsa-mir-29b-1 7 20478395
hsa-miR-29b hsa-mir-29b-2 1 20478395
hsa-miR-29b hsa-mir-29b-1 7 17890317
hsa-miR-29b hsa-mir-29b-2 1 17890317
hsa-miR-29b-1* hsa-mir-29b-1 7 21081840
hsa-miR-29b-1* hsa-mir-29b-1 7 20643754
hsa-miR-29b-1* hsa-mir-29b-1 7 19211935
hsa-miR-29b-1* hsa-mir-29b-1 7 20478395
hsa-miR-29b-1* hsa-mir-29b-1 7 17890317
hsa-miR-29b-2* hsa-mir-29b-2 1 21081840
hsa-miR-29b-2* hsa-mir-29b-2 1 20643754
hsa-miR-29b-2* hsa-mir-29b-2 1 20478395
hsa-miR-29b-2* hsa-mir-29b-2 1 17890317
hsa-miR-29c hsa-mir-29c 1 21136442
hsa-miR-29c hsa-mir-29c 1 21081840
hsa-miR-29c hsa-mir-29c 1 20643754
hsa-miR-29c hsa-mir-29c 1 20478395
hsa-miR-29c hsa-mir-29c 1 17890317
hsa-miR-29c* hsa-mir-29c 1 21136442
hsa-miR-29c* hsa-mir-29c 1 21081840
hsa-miR-29c* hsa-mir-29c 1 20643754
hsa-miR-29c* hsa-mir-29c 1 20478395
hsa-miR-29c* hsa-mir-29c 1 17890317
hsa-miR-369-5p hsa-mir-369 14 21136442
hsa-miR-371-3p hsa-mir-371 19 21136442
hsa-miR-371-5p hsa-mir-371 19 21136442
hsa-miR-499-3p hsa-mir-499 20 21136442
hsa-miR-499-5p hsa-mir-499 20 21136442
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
582 mRNA cleavage TRUE miR-29a DNMT3A Luciferase assay - mutant MRE 17890317
586 mRNA cleavage TRUE miR-29b DNMT3A Luciferase assay - scrambled miRNA 17890317
589 mRNA cleavage TRUE miR-29c DNMT3A Luciferase assay - scrambled miRNA 17890317
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000119772 "neuronal and glial cells, G1-to-S transition" G1 cell cycle arrest up regulated "lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
ENSG00000119772 G1/S phase transition Non-small-cell lung cancer (NSCLC) down regulated "lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
ENSG00000119772 nasopharyngeal epithelium Non-small-cell lung cancer (NSCLC) down regulated "lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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