RAG1 (Q18031022)

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protein-coding gene in the species Homo sapiens

RAG-1
RNF74
recombination activating gene 1
recombination activating 1

Language	Label	Description	Also known as
English	RAG1	protein-coding gene in the species Homo sapiens	RAG-1 RNF74 recombination activating gene 1 recombination activating 1

Statements

1 reference

ensembl Release 98

Ensembl gene ID

ENSG00000166349

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000166349

1 reference

ensembl Release 98

Ensembl gene ID

ENSG00000166349

Recombination activating 1

1 reference

6 July 2017

UniProt protein ID

genetic association

severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000166349/MONDO_0011086

based on heuristic

inferred from an Open Targets association score over 0.7

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000166349/MONDO_0011338

based on heuristic

inferred from an Open Targets association score over 0.7

recombinase activating gene 1 deficiency

1 reference

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f08ada81-650b-4764-99e4-f3156f67cbc9-2021-06-17T160000.000Z

combined immunodeficiency with skin granulomas

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000166349/MONDO_0009306

based on heuristic

inferred from an Open Targets association score over 0.7

combined immunodeficiency due to partial RAG1 deficiency

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000166349/Orphanet_231154

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 11

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 98

Ensembl gene ID

ENSG00000166349

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 98

Ensembl gene ID

ENSG00000166349

36510709

human chromosome 11

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 98

Ensembl gene ID

ENSG00000166349

36532259

human chromosome 11

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 98

Ensembl gene ID

ENSG00000166349

36593156

human chromosome 11

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 98

Ensembl gene ID

ENSG00000166349

36614706

human chromosome 11

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 98

Ensembl gene ID

ENSG00000166349

cytogenetic location

11p12

1 reference

6 September 2019

387

1 reference

6 September 2019

1 reference

HomoloGene build68

387

1 reference

HomoloGene build68

387

1 reference

HomoloGene build68

387

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000166349

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000166349

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000166349

stromal cell of endometrium

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000166349

bone marrow cells

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000166349

islet of Langerhans

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000166349

left adrenal gland

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000166349

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000166349

left lobe of thyroid gland

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000166349

right lobe of thyroid gland

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000166349

http://identifiers.org/ncbigene/5896

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

MeSH descriptor ID

0 references

1 reference

6 September 2019

1 reference

6 September 2019

1 reference

6 September 2019

1 reference

6 September 2019

Ensembl gene ID

ENSG00000166349

1 reference

ensembl Release 98

Ensembl gene ID

ENSG00000166349

Ensembl transcript ID

ENST00000534663

1 reference

ensembl Release 98

Ensembl gene ID

ENSG00000166349

ENST00000299440

1 reference

ensembl Release 98

Ensembl gene ID

ENSG00000166349

ENST00000529126

1 reference

ensembl Release 98

Ensembl gene ID

ENSG00000166349

0 references

HGNC gene symbol

1 reference

6 September 2019

1 reference

6 September 2019

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

based on heuristic

inferred by common MeSH mappings on source and on Wikidata

25 May 2023

Sitelinks

Wikipedia(7 entries)

arwiki RAG1
arzwiki RAG1
bswiki RAG1
enwiki RAG1
glwiki RAG1
ttwiki RAG1
ukwiki RAG1

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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