ITPR1 &#160; ingelesa (Q18028073)

ensembl Release 106 ^ingelesa

proteinak kodetzen dituen genea

honen azpiklasea

Erreferentzia bat

Ensembl Release 87 ^ingelesa

irudia

PBB Protein ITPR1 image.jpg
500 × 500; 40 KB

0 erreferentzia

Homo sapiens

Erreferentzia bat

ensembl Release 106 ^ingelesa

kodetzen du

Inositol 1,4,5-trisphosphate receptor type 1 ^ingelesa

Erreferentzia bat

UniProt ^ingelesa

6 uztaila 2017

UniProt protein ID ^ingelesa

Q14643

genetic association ^ingelesa

gizeneri

zehazteko metodoa

genome-wide association study ^ingelesa

TAS ^ingelesa

Erreferentzia bat

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_9970&ncbiId=3708

http://www.genome.gov/gwastudies/index.cfm?gene=ITPR1

Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population ^ingelesa

Phenocarta ^ingelesa

25 maiatza 2020

spinocerebellar ataxia type 15/16 ^ingelesa

2 erreferentzia

UniProt ^ingelesa

UniProt protein ID ^ingelesa

Q14643

13 abuztua 2019

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000150995/MONDO_0011694

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

spinocerebellar ataxia type 29 ^ingelesa

4 erreferentzia

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8b938bea-6fcb-46e1-9435-99303d59740e-2022-01-03T094328.527Z

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

ClinGen ^ingelesa

3 urtarrila 2022

ClinGen ^ingelesa

10 urtarrila 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8b938bea-6fcb-46e1-9435-99303d59740e-2021-11-03T160000.000Z

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000150995/MONDO_0007298

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

Gillespie syndrome ^ingelesa

7 erreferentzia

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a848b265-8aa3-41ee-83cc-9287afe0f9d0-2022-01-03T094145.985Z

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

ClinGen ^ingelesa

3 urtarrila 2022

ClinGen ^ingelesa

3 urtarrila 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e43bc1b6-656e-4f8e-aeed-5c39fac10624-2022-01-03T094304.587Z

ClinGen ^ingelesa

10 urtarrila 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a848b265-8aa3-41ee-83cc-9287afe0f9d0-2021-11-03T160000.000Z

ClinGen ^ingelesa

10 urtarrila 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e43bc1b6-656e-4f8e-aeed-5c39fac10624-2021-11-03T160000.000Z

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000150995/MONDO_0008795

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000150995/Orphanet_1065

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

human chromosome 3 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

strand orientation ^ingelesa

forward strand ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

genomic start ^ingelesa

4535032

human chromosome 3 ^ingelesa

genomic assembly ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

4493345

human chromosome 3 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

genomic end ^ingelesa

4889524

human chromosome 3 ^ingelesa

genomic assembly ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

4847506

human chromosome 3 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

cytogenetic location ^ingelesa

3p26.1

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

HomoloGene ID ^ingelesa

1673

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Gene Atlas image ^ingelesa

PBB GE ITPR1 216944 s at fs.png
732 × 530; 12 KB

0 erreferentzia

PBB GE ITPR1 203710 at fs.png
732 × 530; 12 KB

0 erreferentzia

PBB GE ITPR1 211323 s at fs.png
732 × 530; 12 KB

0 erreferentzia

Itpr1 ^ingelesa

2 erreferentzia

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

1673

Orthologous MAtrix ^ingelesa

Itpr1 ^ingelesa

Arratoi arrunt

2 erreferentzia

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

1673

Orthologous MAtrix ^ingelesa

Itpr ^ingelesa

ozpin-euli

2 erreferentzia

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

1673

Orthologous MAtrix ^ingelesa

itpr1b ^ingelesa

Danio rerio

Erreferentzia bat

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

1673

itr-1 ^ingelesa

Caenorhabditis elegans

2 erreferentzia

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

1673

Orthologous MAtrix ^ingelesa

expressed in ^ingelesa

tail of epididymis ^ingelesa

1

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

Brodmann area 23 ^ingelesa

2

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

primary visual cortex ^ingelesa

3

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

right coronary artery ^ingelesa

4

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

popliteal artery ^ingelesa

5

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

Tibial arteries

6

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

Semen-besikula

7

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

right hemisphere of cerebellum ^ingelesa

8

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

orbitofrontal cortex ^ingelesa

9

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

left coronary artery ^ingelesa

10

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

http://identifiers.org/ncbigene/3708

baliokidetasun zehatza

Erreferentzia bat

Identifiers.org ^ingelesa

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

Identifikatzaileak

RNAren identifikatzailea

NM_001099952

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

ensembl Release 106 ^ingelesa

Ensembl-ren transkripzio-identifikatzailea

ENST00000544951

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000302640

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000354582

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000357086

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000443694

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000456211

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000463980

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000467056

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000467545

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000472205

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000477577

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000478515

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000479831

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000481415

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000487016

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000490572

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000491868

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000493491

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000494681

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000649669

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000649425

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000650139

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000649015

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000648038

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000647900

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000647624

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000649767

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000649414

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000648510

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000648770

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000650079

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000649051

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000649314

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000650146

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000647685

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000649430

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000648212

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000648309

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000650074

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000649139

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000647717

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000649694

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000650294

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000648266

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000648208

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000647673

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000647997

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000650552

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000649144

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000648564

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000648016

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000648431

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000649908

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000648390

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000649272

Erreferentzia bat

ensembl Release 106 ^ingelesa

Freebase-ren identifikatzailea

0 erreferentzia

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

HGNC ID ^ingelesa

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

OMIM ID ^ingelesa

147265

Erreferentzia bat

Online Mendelian Inheritance in Man

19 abuztua 2019

UMLS CUI

C1334148

Erreferentzia bat

based on heuristic ^ingelesa

inferred by common HGNC mappings on source and on Wikidata ^ingelesa

UMLS 2023 ^ingelesa