(Q14908113)

English

TSC1

protein-coding gene in the species Homo sapiens

LAM
TSC
tuberous sclerosis 1
TSC complex subunit 1

In more languages

Statements

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000165699

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

TSC complex subunit 1

1 reference

6 July 2017

UniProt protein ID

genetic association

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_8893&ncbiId=7248

http://www.genome.gov/gwastudies/index.cfm?gene=TSC1

Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways

25 May 2020

tuberous sclerosis 1

2 references

UniProt protein ID

13 August 2019

6 November 2019

https://search.clinicalgenome.org/kb/gene-validity/8750

lymphangioleiomyomatosis

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000165699/MONDO_0011705

based on heuristic

inferred from an Open Targets association score over 0.7

tuberous sclerosis

3 references

9 December 2020

https://search.clinicalgenome.org/kb/gene-validity/61b07bb0-1385-4344-8b6c-571f6a271000--2019-01-23T17:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61b07bb0-1385-4344-8b6c-571f6a271000-2019-01-23T170000.000Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000165699/MONDO_0001734

based on heuristic

inferred from an Open Targets association score over 0.7

isolated focal cortical dysplasia type II

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000165699/MONDO_0011818

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 9

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

132891348

human chromosome 9

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

135766735

human chromosome 9

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

135820020

human chromosome 9

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

132946874

human chromosome 9

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

cytogenetic location

9q34.13

1 reference

9 January 2022

314

1 reference

9 January 2022

Gene Atlas image

PBB GE TSC1 209390 at fs.png
732 × 530; 12 KB

0 references

1 reference

HomoloGene build68

314

1 reference

HomoloGene build68

314

1 reference

HomoloGene build68

314

external globus pallidus

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000165699

Region I of hippocampus proper

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000165699

inferior olivary nucleus

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000165699

superior vestibular nucleus

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000165699

middle temporal gyrus

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000165699

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000165699

corpus callosum

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000165699

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000165699

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000165699

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000165699

http://identifiers.org/ncbigene/7248

1 reference

Identifiers.org

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

Identifiers

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

0 references

Ensembl gene ID

ENSG00000165699

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

Ensembl transcript ID

ENST00000545250

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000298552

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000403810

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000440111

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000461879

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000475903

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000490179

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000493467

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000642627

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000644255

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000643875

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000646788

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000644997

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000642745

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000645346

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000647534

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000643583

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000644786

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000644097

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000643072

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000645150

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000642646

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000646625

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000647262

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000642261

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000647462

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000642249

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000642854

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000644319

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000646440

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000642617

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000642344

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000643362

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000645901

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000645904

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000642811

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000647279

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000644882

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000643625

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000644184

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000643275

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000646831

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000645129

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000646391

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000647078

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000647506

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

ENST00000643691

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000165699

HGNC gene symbol

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(0 entries)

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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