ವಿಷಯಕ್ಕೆ ಹೋಗು

CLN8

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protein-coding gene in the species Homo sapiens

ಉದಾಹರಣೆಗೆ

ಉಪವರ್ಗ

protein-coding gene[]

found in taxon

Homo sapiens[]

encodes

CLN8 transmembrane ER and ERGIC protein[]
Protein CLN8[]

genetic association

neuronal ceroid lipofuscinosis 8[][೧೦][೧೧]
neuronal ceroid lipofuscinosis 8 northern epilepsy variant[][೧೨][೧೩]
neuronal ceroid lipofuscinosis[೧೪][೧೫]

chromosome

human chromosome 8[]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

forward strand[]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

1755778[]

genomic assembly: genome assembly GRCh38

chromosome: human chromosome 8

1703944[]

genomic assembly: Genome assembly GRCh37

chromosome: human chromosome 8

genomic end

1801711[]

genomic assembly: genome assembly GRCh38

chromosome: human chromosome 8

1734738[]

genomic assembly: Genome assembly GRCh37

chromosome: human chromosome 8

cytogenetic location

8p23.3[]

HomoloGene ID

10340[]

ortholog

Cln8[೧೬][೧೭]

found in taxon: house mouse

Cln8[೧೬][೧೭]

found in taxon: brown rat

cln8[೧೬][೧೭]

found in taxon: Danio rerio

expressed in

corpus callosum[೧೮]

series ordinal: 1

C1 segment[೧೮]

series ordinal: 2

stromal cell of endometrium[೧೮]

series ordinal: 3

monocyte[೧೮]

series ordinal: 4

substantia nigra[೧೮]

series ordinal: 6

tonsil[೧೮]

series ordinal: 7

skin of leg[೧೮]

series ordinal: 8

skin of abdomen[೧೮]

series ordinal: 10

Reference

  1. ೧.೦೦ ೧.೦೧ ೧.೦೨ ೧.೦೩ ೧.೦೪ ೧.೦೫ ೧.೦೬ ೧.೦೭ ೧.೦೮ ೧.೦೯ ೧.೧೦ ೧.೧೧ ೧.೧೨ NCBI Gene, ೧೫ ಮೇ 2022, 2055
  2. ೨.೦ ೨.೧ NCBI Gene, ೧೦ ಏಪ್ರಿಲ್ 2022, 2055
  3. ೩.೦೦ ೩.೦೧ ೩.೦೨ ೩.೦೩ ೩.೦೪ ೩.೦೫ ೩.೦೬ ೩.೦೭ ೩.೦೮ ೩.೦೯ ೩.೧೦ ೩.೧೧ ೩.೧೨ ೩.೧೩ ೩.೧೪ ೩.೧೫ ೩.೧೬ ೩.೧೭ ೩.೧೮ ೩.೧೯ ೩.೨೦ ೩.೨೧ ೩.೨೨ ೩.೨೩ ೩.೨೪ ೩.೨೫ ೩.೨೬ ೩.೨೭ ೩.೨೮ ೩.೨೯ ೩.೩೦ ensembl Release 106, ENSG00000182372
  4. UMLS 2023, ೧೫ ಜೂನ್ 2023, inferred by common HGNC mappings on source and on Wikidata
  5. Online Mendelian Inheritance in Man, ೧೯ ಆಗಸ್ಟ್ 2019
  6. NCBI homo sapiens annotation release 107, NCBI Gene, ೩ ಅಕ್ಟೋಬರ್ 2016, 2055
  7. UniProt, ೧೬ ಮಾರ್ಚ್ 2017, Q9UBY8
  8. A0A0J9YWD2, ೨೧ ಮಾರ್ಚ್ 2016, ಆಂಗ್ಲ, UniProt
  9. ೯.೦ ೯.೧ Q9UBY8, ೧೩ ಆಗಸ್ಟ್ 2019, UniProt
  10. Open Targets Platform, ೨೪ ಆಗಸ್ಟ್ 2023, inferred from an Open Targets association score over 0.7, https://platform.opentargets.org/evidence/ENSG00000182372/MONDO_0010830
  11. Open Targets Platform, ೨೪ ಆಗಸ್ಟ್ 2023, inferred from an Open Targets association score over 0.7, https://platform.opentargets.org/evidence/ENSG00000182372/Orphanet_228354
  12. Open Targets Platform, ೨೪ ಆಗಸ್ಟ್ 2023, inferred from an Open Targets association score over 0.7, https://platform.opentargets.org/evidence/ENSG00000182372/MONDO_0012391
  13. Open Targets Platform, ೨೪ ಆಗಸ್ಟ್ 2023, inferred from an Open Targets association score over 0.7, https://platform.opentargets.org/evidence/ENSG00000182372/Orphanet_1947
  14. ClinGen, ೧೪ ಸೆಪ್ಟೆಂಬರ್ 2020, https://search.clinicalgenome.org/kb/gene-validity/68775ed0-576e-4ee7-90f2-d16329ecd7c1--2020-09-07T22:01:16
  15. ClinGen, ೨೫ ಜನವರಿ 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_68775ed0-576e-4ee7-90f2-d16329ecd7c1-2020-09-07T220116.243Z
  16. ೧೬.೦ ೧೬.೧ ೧೬.೨ HomoloGene build68, 10340
  17. ೧೭.೦ ೧೭.೧ ೧೭.೨ Orthologous MAtrix, https://omabrowser.org/oma/vps/Q9UBY8/
  18. ೧೮.೦೦ ೧೮.೦೧ ೧೮.೦೨ ೧೮.೦೩ ೧೮.೦೪ ೧೮.೦೫ ೧೮.೦೬ ೧೮.೦೭ ೧೮.೦೮ ೧೮.೦೯ Bgee, ೭ ಜೂನ್ 2024, https://www.bgee.org/gene/ENSG00000182372
  19. Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
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