Mine sisu juurde

CLN8

Lehekülje sisu ei toetata teistes keeltes.
Loo artikkel

See on automaatne vaade, mis põhineb projekti Vikiandmed andmetel.
Artiklit veel pole, kuid saad aidata seda luua.

protein-coding gene in the species Homo sapiens

Välised allikad

RefSeq RNA ID
NM_001034061[1]
NM_018941[1]
XM_005266021[1]
XM_005266022[1]
XM_005266023[1]
XM_011534745[1]
XM_011534746[1]
XM_011534747[1]
XM_047421512[2]
XM_047421513[2]
Microsoft Academic ID
2779181360
Ensembl transcript ID
ENST00000631624[3]
ENST00000519254[3]
ENST00000635751[3]
ENST00000637083[3]
ENST00000632266[3]
ENST00000524258[3]
ENST00000637156[3]
ENST00000518780[3]
ENST00000619400[3]
ENST00000517514[3]
ENST00000637594[3]
ENST00000520991[3]
ENST00000631736[3]
ENST00000632971[3]
ENST00000636605[3]
ENST00000631515[3]
ENST00000636934[3]
ENST00000631978[3]
ENST00000523237[3]
ENST00000635970[3]
ENST00000331222[3]
Entrez Gene ID
2055[1]
Freebase
/m/03h0401
UMLS CUI
C1413500[4]
HGNC gene symbol
CLN8[1]
OMIM ID
607837[5]
Ensembl gene ID
ENSG00000182372[3]
ENSG00000278220[3]
HGNC ID
2079[1]

üksikjuht nähtusest

geen[3]

mille alamklass

protein-coding gene[6]

found in taxon

Homo sapiens[3]

encodes

CLN8 transmembrane ER and ERGIC protein[7]
Protein CLN8[8]

genetic association

neuronal ceroid lipofuscinosis 8[9][10][11]
neuronal ceroid lipofuscinosis 8 northern epilepsy variant[9][12][13]
neuronal ceroid lipofuscinosis[14][15]

chromosome

human chromosome 8[3]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

forward strand[3]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

1755778[3]

chromosome: human chromosome 8

genomic assembly: genome assembly GRCh38

1703944[3]

chromosome: human chromosome 8

genomic assembly: Genome assembly GRCh37

genomic end

1801711[3]

chromosome: human chromosome 8

genomic assembly: genome assembly GRCh38

1734738[3]

chromosome: human chromosome 8

genomic assembly: Genome assembly GRCh37

cytogenetic location

8p23.3[1]

HomoloGene ID

10340[1]

ortholog

Cln8[16][17]

found in taxon: koduhiir

Cln8[16][17]

found in taxon: rändrott

cln8[16][17]

found in taxon: Danio rerio

expressed in

corpus callosum[18]

järjekorranumber: 1

C1 segment[18]

järjekorranumber: 2

stromal cell of endometrium[18]

järjekorranumber: 3

monotsüüt[18]

järjekorranumber: 4

Platsenta[18]

järjekorranumber: 5

Mustaine[18]

järjekorranumber: 6

Mandlid[18]

järjekorranumber: 7

skin of leg[18]

järjekorranumber: 8

maks[18]

järjekorranumber: 9

skin of abdomen[18]

järjekorranumber: 10

täpne vaste

http://identifiers.org/ncbigene/2055[19]

Viited

  1. ↑ 1,00 1,01 1,02 1,03 1,04 1,05 1,06 1,07 1,08 1,09 1,10 1,11 1,12 NCBI Gene, 15. mai 2022, 2055
  2. ↑ 2,0 2,1 NCBI Gene, 10. aprill 2022, 2055
  3. ↑ 3,00 3,01 3,02 3,03 3,04 3,05 3,06 3,07 3,08 3,09 3,10 3,11 3,12 3,13 3,14 3,15 3,16 3,17 3,18 3,19 3,20 3,21 3,22 3,23 3,24 3,25 3,26 3,27 3,28 3,29 3,30 ensembl Release 106, ENSG00000182372
  4. ↑ UMLS 2023, 15. juuni 2023, inferred by common HGNC mappings on source and on Wikidata
  5. ↑ Online Mendelian Inheritance in Man, 19. august 2019
  6. ↑ NCBI homo sapiens annotation release 107, NCBI Gene, 3. oktoober 2016, 2055
  7. ↑ UniProt, 16. märts 2017, Q9UBY8
  8. ↑ A0A0J9YWD2, 21. märts 2016, UniProt, inglise keel
  9. ↑ 9,0 9,1 Q9UBY8, 13. august 2019, UniProt
  10. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000182372/MONDO_0010830, inferred from an Open Targets association score over 0.7
  11. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000182372/Orphanet_228354, inferred from an Open Targets association score over 0.7
  12. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000182372/MONDO_0012391, inferred from an Open Targets association score over 0.7
  13. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000182372/Orphanet_1947, inferred from an Open Targets association score over 0.7
  14. ↑ ClinGen, 14. september 2020, https://search.clinicalgenome.org/kb/gene-validity/68775ed0-576e-4ee7-90f2-d16329ecd7c1--2020-09-07T22:01:16
  15. ↑ ClinGen, 25. jaanuar 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_68775ed0-576e-4ee7-90f2-d16329ecd7c1-2020-09-07T220116.243Z
  16. ↑ 16,0 16,1 16,2 HomoloGene build68, 10340
  17. ↑ 17,0 17,1 17,2 Orthologous MAtrix, https://omabrowser.org/oma/vps/Q9UBY8/
  18. ↑ 18,00 18,01 18,02 18,03 18,04 18,05 18,06 18,07 18,08 18,09 Bgee, 7. juuni 2024, https://www.bgee.org/gene/ENSG00000182372
  19. ↑ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
Pärit leheküljelt "https://et.wikipedia.org/wiki/Eri:AboutTopic/Q17916977"