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DNMT3A

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protein-coding gene in the species Homo sapiens

faili seletus: Structure de la protéine DNMT3A. Basée sur l'identifiant PDB 2QRV.

Välised allikad

Microsoft Academic ID
2777620631
Ensembl transcript ID
ENST00000264709[1]
ENST00000321117[1]
ENST00000380746[1]
ENST00000380756[1]
ENST00000402667[1]
ENST00000406659[1]
ENST00000461228[1]
ENST00000466601[1]
ENST00000470983[1]
ENST00000474807[1]
ENST00000474887[1]
ENST00000482935[1]
ENST00000484184[1]
ENST00000491288[1]
ENST00000683393[1]
ENST00000683760[1]
ENST00000682842[1]
Entrez Gene ID
1788[2]
Ensembl gene ID
ENSG00000119772[1]
RefSeq RNA ID
NM_022552[2]
NM_153759[2]
NM_175629[2]
NM_175630[2]
XM_005264175[2]
XM_011532662[2]
XM_011532664[2]
XM_011532666[2]
XM_011532667[2]
NM_001320892[2]
NM_001320893[2]
NR_135490[2]
XM_017003526[2]
XM_017003527[2]
NM_001375819[2]
XM_047443592[3]
XM_047443593[3]
XM_047443594[3]
XM_047443596[3]
XM_047443597[3]
XM_047443598[3]
XM_047443599[3]
UMLS CUI
C1414123[4]
HGNC gene symbol
DNMT3A[2]
CIViC gene ID
18
OMIM ID
602769[5]
HGNC ID
2978[2]
Freebase
/m/03cwrjs

üksikjuht nähtusest

geen[1]

mille alamklass

protein-coding gene[6]

found in taxon

Homo sapiens[1]

encodes

DNA methyltransferase 3 alpha[7]

genetic association

Crohni tõbi[8]

määramismeetod: Ülegenoomne assotsiatsiooniuuring, TAS

Tatton-Brown–Rahman syndrome[9][10][11]
myelodysplastic syndrome[12]
acute myeloid leukemia[13]

chromosome

2. kromosoom[1]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

reverse strand[1]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

25227855[1]

chromosome: 2. kromosoom

genomic assembly: genome assembly GRCh38

25455845[1]

chromosome: 2. kromosoom

genomic assembly: Genome assembly GRCh37

genomic end

25342590[1]

chromosome: 2. kromosoom

genomic assembly: genome assembly GRCh38

25565459[1]

chromosome: 2. kromosoom

genomic assembly: Genome assembly GRCh37

cytogenetic location

2p23.3[2]

HomoloGene ID

7294[2]

Gene Atlas image

ortholog

Dnmt3a[14][15]

found in taxon: koduhiir

Dnmt3a[14][15]

found in taxon: rändrott

dnmt3ab[14]

found in taxon: Danio rerio

expressed in

sural nerve[16]

järjekorranumber: 1

ganglionic eminence[16]

järjekorranumber: 2

ventricular zone[16]

järjekorranumber: 3

Skeletal muscle tissue of biceps brachii[16]

järjekorranumber: 4

ootsüüt[16]

järjekorranumber: 5

Platsenta[16]

järjekorranumber: 6

right ovary[16]

järjekorranumber: 7

muscle of thigh[16]

järjekorranumber: 8

Skeletal muscle tissue of rectus abdominis[16]

järjekorranumber: 9

left ovary[16]

järjekorranumber: 10

täpne vaste

http://identifiers.org/ncbigene/1788[17]

Viited

  1. ↑ 1,00 1,01 1,02 1,03 1,04 1,05 1,06 1,07 1,08 1,09 1,10 1,11 1,12 1,13 1,14 1,15 1,16 1,17 1,18 1,19 1,20 1,21 1,22 1,23 1,24 1,25 ensembl Release 106, ENSG00000119772
  2. ↑ 2,00 2,01 2,02 2,03 2,04 2,05 2,06 2,07 2,08 2,09 2,10 2,11 2,12 2,13 2,14 2,15 2,16 2,17 2,18 2,19 NCBI Gene, 15. mai 2022, 1788
  3. ↑ 3,0 3,1 3,2 3,3 3,4 3,5 3,6 NCBI Gene, 10. aprill 2022, 1788
  4. ↑ UMLS 2023, 15. juuni 2023, inferred by common HGNC mappings on source and on Wikidata
  5. ↑ Online Mendelian Inheritance in Man, 19. august 2019
  6. ↑ Ensembl Release 87, ENSG00000119772
  7. ↑ UniProt, 6. juuli 2017, Q9Y6K1
  8. ↑ Phenocarta, Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci, https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_8778&ncbiId=1788, http://www.genome.gov/gwastudies/index.cfm?gene=DNMT3A, 25. mai 2020
  9. ↑ The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.
  10. ↑ Q9Y6K1, 13. august 2019, UniProt
  11. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000119772/MONDO_0014382, inferred from an Open Targets association score over 0.7
  12. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000119772/EFO_0000198, inferred from an Open Targets association score over 0.7
  13. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000119772/EFO_0000222, inferred from an Open Targets association score over 0.7
  14. ↑ 14,0 14,1 14,2 HomoloGene build68, 7294
  15. ↑ 15,0 15,1 Orthologous MAtrix, https://omabrowser.org/oma/vps/Q9Y6K1/
  16. ↑ 16,00 16,01 16,02 16,03 16,04 16,05 16,06 16,07 16,08 16,09 Bgee, 7. juuni 2024, https://www.bgee.org/gene/ENSG00000119772
  17. ↑ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
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