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RAG1

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gene umano

Risorse esterne

identificativo RNA
NM_000448[1]
XM_005253041[1]
XM_011520250[1]
identificativo trascrizione Ensembl
ENST00000534663[2]
ENST00000299440[2]
ENST00000529126[2]
identificativo MeSH
D016654
identificativo gene Entrez
5896[1]
UMLS CUI
C0085218[3]
identificativo OMIM
179615[4]
identificativo gene Ensembl
ENSG00000166349[2]
identificativo HGNC
9831[1]
simbolo gene
RAG1[1]
identificativo Freebase
/m/0w7lln2

no tipo 'e

gene[2]

sottoclasse di

gene codificante una proteina[5]

trovato nella tassonomia de

Homo sapiens[2]

codifica

Recombination activating 1[6]

associazione genetica

severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive[7][8]
Omenn syndrome[7][9]
recombinase activating gene 1 deficiency[10]
combined immunodeficiency with skin granulomas[11]
combined immunodeficiency due to partial RAG1 deficiency[12]

cromosoma

cromosoma 11[2]

assemblaggio genomico: genome assembly GRCh38, Genome assembly GRCh37

orientamento del filamento

forward strand[2]

assemblaggio genomico: genome assembly GRCh38, Genome assembly GRCh37

inizio della sequenza genomica

36510709[2]

cromosoma: cromosoma 11

assemblaggio genomico: genome assembly GRCh38

36532259[2]

cromosoma: cromosoma 11

assemblaggio genomico: Genome assembly GRCh37

fine della sequenza genomica

36593156[2]

cromosoma: cromosoma 11

assemblaggio genomico: genome assembly GRCh38

36614706[2]

cromosoma: cromosoma 11

assemblaggio genomico: Genome assembly GRCh37

posizione citogenetica

11p12[1]

identificativo Homologene

387[1]

Rag1[13][14]

trovato nella tassonomia de: Surice

Rag1[13][14]

trovato nella tassonomia de: ratto grigio

rag1[13][14]

trovato nella tassonomia de: Danio rerio

expressed in

timo[15]

numero d'ordine: 1

buccal mucosa cell[15]

numero d'ordine: 2

testicolo[15]

numero d'ordine: 3

midollo osseo[15]

numero d'ordine: 4

milza[15]

numero d'ordine: 5

apex of heart[15]

numero d'ordine: 6

tendon of biceps brachii[15]

numero d'ordine: 7

stromal cell of endometrium[15]

numero d'ordine: 8

bone marrow cells[15]

numero d'ordine: 9

right adrenal cortex[15]

numero d'ordine: 10

corrisponde esattamente

http://identifiers.org/ncbigene/5896[16]

Riferimento

  1. ↑ 1,0 1,1 1,2 1,3 1,4 1,5 1,6 1,7 NCBI Gene, 6 set 2019, 5896
  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 ensembl Release 98, ENSG00000166349
  3. ↑ UMLS 2023, 25 Maj 2023, inferred by common MeSH mappings on source and on Wikidata
  4. ↑ Mendelian Inheritance in Man, 19 Aùs 2019
  5. ↑ Ensembl Release 87, ENSG00000166349
  6. ↑ UniProt, 6 lug 2017, P15918
  7. ↑ 7,0 7,1 P15918, 13 Aùs 2019, UniProt
  8. ↑ Open Targets Platform, 24 Aùs 2023, https://platform.opentargets.org/evidence/ENSG00000166349/MONDO_0011086, inferred from an Open Targets association score over 0.7
  9. ↑ Open Targets Platform, 24 Aùs 2023, https://platform.opentargets.org/evidence/ENSG00000166349/MONDO_0011338, inferred from an Open Targets association score over 0.7
  10. ↑ ClinGen, 25 Jen 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f08ada81-650b-4764-99e4-f3156f67cbc9-2021-06-17T160000.000Z
  11. ↑ Open Targets Platform, 24 Aùs 2023, https://platform.opentargets.org/evidence/ENSG00000166349/MONDO_0009306, inferred from an Open Targets association score over 0.7
  12. ↑ Open Targets Platform, 24 Aùs 2023, https://platform.opentargets.org/evidence/ENSG00000166349/Orphanet_231154, inferred from an Open Targets association score over 0.7
  13. ↑ 13,0 13,1 13,2 HomoloGene build68, 387
  14. ↑ 14,0 14,1 14,2 Orthologous MAtrix, https://omabrowser.org/oma/vps/P15918/
  15. ↑ 15,00 15,01 15,02 15,03 15,04 15,05 15,06 15,07 15,08 15,09 Bgee, 7 Giù 2024, https://www.bgee.org/gene/ENSG00000166349
  16. ↑ registro identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
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