PDGFRA

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gjen i llojit Homo sapiens

External resources

Microsoft Academic ID	37307934
Ensembl transcript ID	ENST00000512522^[1] ENST00000257290^[1] ENST00000461294^[1] ENST00000503856^[1] ENST00000504461^[1] ENST00000507536^[1] ENST00000508170^[1] ENST00000509092^[1] ENST00000509490^[1] ENST00000512143^[1]
Entrez Gene ID	5156^[2]
RefSeq RNA ID	NM_006206^[2] XM_005265743^[2] XM_006714041^[2] XM_017008281^[2] NM_001347827^[2] NM_001347828^[2] NM_001347829^[2] NM_001347830^[2] XM_047415766^[3] XM_047415767^[3]
Ensembl gene ID	ENSG00000134853^[1]
Freebase ID	/m/03qgtd2
UMLS CUI	C1335201^[4]
CIViC gene ID	38
OpenAlex ID	C37307934^[5]
OMIM ID	173490^[6]
HGNC ID	8803^[2]
simboli i gjenit HGNC	PDGFRA^[2]

instancë e

gjen^[1]

nënklasë e

gjen kodues i proteinave^[7]

found in taxon

Homo sapiens^[1]

encodes

Platelet derived growth factor receptor alpha^[8]

Platelet-derived growth factor receptor alpha^[9]

genetic association

astigmatizmi^[10]

metoda e përcaktimit: genome-wide association study, TAS

gastrointestinal stromal tumor^[11]^[12]^[13]^[14]

kromozom

human chromosome 4^[1]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

forward strand^[1]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

55095264^[1]

genomic assembly: Genome assembly GRCh37

kromozom: human chromosome 4

54229280^[1]

genomic assembly: genome assembly GRCh38

kromozom: human chromosome 4

genomic end

55164414^[1]

genomic assembly: Genome assembly GRCh37

kromozom: human chromosome 4

54298245^[1]

genomic assembly: genome assembly GRCh38

kromozom: human chromosome 4

cytogenetic location

4q12^[2]

HomoloGene ID

31361^[2]

Gene Atlas image

ortholog

Pdgfra^[15]^[16]

found in taxon: Mus musculus

Pdgfra^[15]^[16]

found in taxon: Miu i murrmë i gjirizeve

pdgfra^[15]^[16]

found in taxon: Danio rerio

kin-9^[15]

found in taxon: Caenorhabditis elegans

F09A5.2^[15]

found in taxon: Caenorhabditis elegans

hir-1^[15]

found in taxon: Caenorhabditis elegans

expressed in

Tibia^[17]

rendor serik: 1

decidua^[17]

rendor serik: 2

synovial joint^[17]

rendor serik: 3

pericardium^[17]

rendor serik: 4

lower lobe of lung^[17]

rendor serik: 5

pylorus^[17]

rendor serik: 6

stromal cell of endometrium^[17]

rendor serik: 7

parietal pleura^[17]

rendor serik: 8

caput epididymis^[17]

rendor serik: 9

left ovary^[17]

rendor serik: 10

përputhje e saktë

http://identifiers.org/ncbigene/5156^[18]

Reference

^ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ ^j ^k ^l ^m ⁿ ^o ^p ^q ^r ^s ensembl Release 106, ENSG00000134853
^ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ ^j ^k ^l ^m NCBI Gene, 15 maj 2022, 5156
^ ^a ^b NCBI Gene, 10 prill 2022, 5156
^ UMLS 2023, 15 qershor 2023, inferred by common HGNC mappings on source and on Wikidata
^ OpenAlex, 26 janar 2022, https://docs.openalex.org/download-snapshot/snapshot-data-format
^ Online Mendelian Inheritance in Man, 19 gusht 2019
^ Ensembl Release 87, ENSG00000134853
^ UniProt, 6 korrik 2017, P16234
^ D6RDX0, 20 mars 2016, anglisht, UniProt
^ Phenocarta, Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism, https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_11782&ncbiId=5156, http://www.genome.gov/gwastudies/index.cfm?gene=PDGFRA, 25 maj 2020
^ P16234, 13 gusht 2019, UniProt
^ ClinGen, 27 korrik 2020, https://search.clinicalgenome.org/kb/gene-validity/08bbf13f-bc04-47a7-a3c5-1ec6abfc9190--2020-01-13T19:55:09
^ ClinGen, 25 janar 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_08bbf13f-bc04-47a7-a3c5-1ec6abfc9190-2020-01-13T195509.878Z
^ Open Targets Platform, 24 gusht 2023, inferred from an Open Targets association score over 0.7, https://platform.opentargets.org/evidence/ENSG00000134853/MONDO_0011719
^ ^a ^b ^c ^d ^e ^f HomoloGene build68, 31361
^ ^a ^b ^c Orthologous MAtrix, https://omabrowser.org/oma/vps/P16234/
^ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ ^j Bgee, 7 qershor 2024, https://www.bgee.org/gene/ENSG00000134853
^ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

[r5e3ae8db-1] ^ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ ^j ^k ^l ^m ⁿ ^o ^p ^q ^r ^s ensembl Release 106, ENSG00000134853

[r4ab7a9e1-2] ^ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ ^j ^k ^l ^m NCBI Gene, 15 maj 2022, 5156

[r09232606-3] NCBI Gene, 10 prill 2022, 5156

[r2eadfdbf-4] UMLS 2023, 15 qershor 2023, inferred by common HGNC mappings on source and on Wikidata

[r3c3f6304-5] OpenAlex, 26 janar 2022, https://docs.openalex.org/download-snapshot/snapshot-data-format

[r7f2c3c61-6] Online Mendelian Inheritance in Man, 19 gusht 2019

[rb59d54f0-7] Ensembl Release 87, ENSG00000134853

[r5676a673-8] UniProt, 6 korrik 2017, P16234

[r2144a323-9] D6RDX0, 20 mars 2016, anglisht, UniProt

[rc154de94-10] Phenocarta, Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism, https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_11782&ncbiId=5156, http://www.genome.gov/gwastudies/index.cfm?gene=PDGFRA, 25 maj 2020

[race26e57-11] P16234, 13 gusht 2019, UniProt

[ra2468a70-12] ClinGen, 27 korrik 2020, https://search.clinicalgenome.org/kb/gene-validity/08bbf13f-bc04-47a7-a3c5-1ec6abfc9190--2020-01-13T19:55:09

[r3e9ea407-13] ClinGen, 25 janar 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_08bbf13f-bc04-47a7-a3c5-1ec6abfc9190-2020-01-13T195509.878Z

[rae4b7d3d-14] Open Targets Platform, 24 gusht 2023, inferred from an Open Targets association score over 0.7, https://platform.opentargets.org/evidence/ENSG00000134853/MONDO_0011719

[rb72b1ed6-15] ^ ^a ^b ^c ^d ^e ^f HomoloGene build68, 31361

[r60d1f068-16] Orthologous MAtrix, https://omabrowser.org/oma/vps/P16234/

[r08c4068c-17] ^ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ ^j Bgee, 7 qershor 2024, https://www.bgee.org/gene/ENSG00000134853

[r99e80de4-18] Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

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