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CLN8

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protein-coding gene in the species Homo sapiens

Eksteraj rimedoj

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]
numero en Microsoft Academic
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]
identigilo de Freebase
/m/03h0401
UMLS CUI
C1413500[4]
HGNC gene symbol
CLN8[1]
identigilo laŭ Reta Mendela Heredo je Homoj
607837[5]
Ensembl gene ID
ENSG00000182372[3]
ENSG00000278220[3]
HGNC ID
2079[1]

estas

geno[3]

subaro de

protein-kodanta geno[6]

en taksono

Homo sapiens[3]

kodas

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

rilato al geno

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

kromosomo

homa kromosomo 8[3]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

orientiĝo de DNA-fadenoj

antaŭuma DNA-fadeno[3]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

komenco de geno

1755778[3]

kromosomo: homa kromosomo 8

genomic assembly: genome assembly GRCh38

1703944[3]

kromosomo: homa kromosomo 8

genomic assembly: Genome assembly GRCh37

fino de geno

1801711[3]

kromosomo: homa kromosomo 8

genomic assembly: genome assembly GRCh38

1734738[3]

kromosomo: homa kromosomo 8

genomic assembly: Genome assembly GRCh37

ĉelgenetika loko

8p23.3[1]

HomoloGene ID

10340[1]

ortohomologa geno

Cln8[16][17]

en taksono: hejma muso

Cln8[16][17]

en taksono: Bruna rato

cln8[16][17]

en taksono: Danio rerio

esprimata en

kaloza korpo[18]

vicnumero: 1

C1 segment[18]

vicnumero: 2

stromal cell of endometrium[18]

vicnumero: 3

Monocito[18]

vicnumero: 4

placento[18]

vicnumero: 5

substanco nigra[18]

vicnumero: 6

tonsilo[18]

vicnumero: 7

skin of leg[18]

vicnumero: 8

hepato[18]

vicnumero: 9

skin of abdomen[18]

vicnumero: 10

plene kongruas kun

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

Referenco

  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 maj. 2022, 2055
  2. ↑ 2,0 2,1 NCBI Gene, 10 apr. 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 jun. 2023, inferred by common HGNC mappings on source and on Wikidata
  5. ↑ Reta Mendela Heredo je Homoj, 19 aŭg. 2019
  6. ↑ NCBI homo sapiens annotation release 107, NCBI Gene, 3 okt. 2016, 2055
  7. ↑ UniProt, 16 mar. 2017, Q9UBY8
  8. ↑ A0A0J9YWD2, 21 mar. 2016, UniProt, angla lingvo
  9. ↑ 9,0 9,1 Q9UBY8, 13 aŭg. 2019, UniProt
  10. ↑ Open Targets Platform, 24 aŭg. 2023, https://platform.opentargets.org/evidence/ENSG00000182372/MONDO_0010830, inferred from an Open Targets association score over 0.7
  11. ↑ Open Targets Platform, 24 aŭg. 2023, https://platform.opentargets.org/evidence/ENSG00000182372/Orphanet_228354, inferred from an Open Targets association score over 0.7
  12. ↑ Open Targets Platform, 24 aŭg. 2023, https://platform.opentargets.org/evidence/ENSG00000182372/MONDO_0012391, inferred from an Open Targets association score over 0.7
  13. ↑ Open Targets Platform, 24 aŭg. 2023, https://platform.opentargets.org/evidence/ENSG00000182372/Orphanet_1947, inferred from an Open Targets association score over 0.7
  14. ↑ ClinGen, 14 sep. 2020, https://search.clinicalgenome.org/kb/gene-validity/68775ed0-576e-4ee7-90f2-d16329ecd7c1--2020-09-07T22:01:16
  15. ↑ ClinGen, 25 jan. 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 jun. 2024, https://www.bgee.org/gene/ENSG00000182372
  19. ↑ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
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