TCOF1

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protein-coding gene in the species Homo sapiens

External resources

RefSeq RNA ID	XR_427780^[೧] NM_000356^[೧] NM_001008656^[೧] NM_001008657^[೧] NM_001135243^[೧] NM_001135244^[೧] NM_001135245^[೧] NM_001195141^[೧] XM_005268502^[೧] XM_005268503^[೧] XM_005268504^[೧] XM_005268506^[೧] XM_005268507^[೧] XM_005268508^[೧] XM_005268509^[೧] XM_011537678^[೧] XR_427778^[೧] XR_427779^[೧] XM_017009792^[೧] XM_017009793^[೧] XM_017009794^[೧] XM_017009795^[೧] NM_001371623^[೧]
Microsoft Academic ID	2780064072
Ensembl transcript ID	ENST00000515516^[೨] ENST00000323668^[೨] ENST00000377797^[೨] ENST00000394269^[೨] ENST00000427724^[೨] ENST00000439160^[೨] ENST00000445265^[೨] ENST00000504761^[೨] ENST00000506063^[೨] ENST00000506630^[೨] ENST00000506767^[೨] ENST00000513346^[೨] ENST00000513538^[೨] ENST00000514442^[೨] ENST00000515035^[೨] ENST00000643812^[೨] ENST00000646961^[೨] ENST00000643257^[೨] ENST00000650162^[೨] ENST00000674413^[೨]
Entrez Gene ID	6949^[೧]
UMLS CUI	C1420654^[೩]
Ensembl gene ID	ENSG00000070814^[೨]
HGNC gene symbol	TCOF1^[೧]
OMIM ID	606847^[೪]
HGNC ID	11654^[೧]
Freebase ಐಡಿ	/m/09c0h5

ಉದಾಹರಣೆಗೆ

ವಂಶವಾಹಿ^[೨]

ಉಪವರ್ಗ

protein-coding gene^[೫]

found in taxon

Homo sapiens^[೨]

encodes

Treacle ribosome biogenesis factor 1^[೬]

genetic association

Treacher Collins syndrome^[೭]^[೮]^[೯]

chromosome

human chromosome 5^[೨]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

forward strand^[೨]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

149737202^[೨]

chromosome: human chromosome 5

genomic assembly: Genome assembly GRCh37

150357629^[೨]

chromosome: human chromosome 5

genomic assembly: genome assembly GRCh38

genomic end

150400308^[೨]

chromosome: human chromosome 5

genomic assembly: genome assembly GRCh38

149779871^[೨]

chromosome: human chromosome 5

genomic assembly: Genome assembly GRCh37

cytogenetic location

5q32-q33.1^[೧]

HomoloGene ID

68049^[೧]

Gene Atlas image

ortholog

Tcof1^[೧೦]^[೧೧]

found in taxon: house mouse

Tcof1^[೧೦]

found in taxon: brown rat

expressed in

sural nerve^[೧೨]

series ordinal: 1

oocyte^[೧೨]

series ordinal: 2

dorsal motor nucleus of vagus nerve^[೧೨]

series ordinal: 3

granulocyte^[೧೨]

series ordinal: 4

pericardium^[೧೨]

series ordinal: 5

ದುಗ್ಧರಸ ಗ್ರಂಥಿ^[೧೨]

series ordinal: 6

pylorus^[೧೨]

series ordinal: 7

apex of heart^[೧೨]

series ordinal: 8

tendon of biceps brachii^[೧೨]

series ordinal: 9

gonad^[೧೨]

series ordinal: 10

exact match

http://identifiers.org/ncbigene/6949^[೧೩]

Reference

↑ ^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 ^೧.೧೩ ^೧.೧೪ ^೧.೧೫ ^೧.೧೬ ^೧.೧೭ ^೧.೧೮ ^೧.೧೯ ^೧.೨೦ ^೧.೨೧ ^೧.೨೨ ^೧.೨೩ ^೧.೨೪ ^೧.೨೫ ^೧.೨೬ ^೧.೨೭ NCBI Gene, ೯ ಜನವರಿ 2022, 6949
↑ ^೨.೦೦ ^೨.೦೧ ^೨.೦೨ ^೨.೦೩ ^೨.೦೪ ^೨.೦೫ ^೨.೦೬ ^೨.೦೭ ^೨.೦೮ ^೨.೦೯ ^೨.೧೦ ^೨.೧೧ ^೨.೧೨ ^೨.೧೩ ^೨.೧೪ ^೨.೧೫ ^೨.೧೬ ^೨.೧೭ ^೨.೧೮ ^೨.೧೯ ^೨.೨೦ ^೨.೨೧ ^೨.೨೨ ^೨.೨೩ ^೨.೨೪ ^೨.೨೫ ^೨.೨೬ ^೨.೨೭ ^೨.೨೮ ensembl Release 105, ENSG00000070814
↑ UMLS 2023, ೧೫ ಜೂನ್ 2023, inferred by common HGNC mappings on source and on Wikidata
↑ Online Mendelian Inheritance in Man, ೧೯ ಆಗಸ್ಟ್ 2019
↑ Ensembl Release 87, ENSG00000070814
↑ UniProt, ೬ ಜುಲೈ 2017, Q13428
↑ ClinGen, ೯ ಡಿಸೆಂಬರ್ 2020, https://search.clinicalgenome.org/kb/gene-validity/3f91c5fe-8e58-4c98-9878-e428e2e41dd7--2019-09-17T16:00:00
↑ ClinGen, ೨೫ ಜನವರಿ 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f91c5fe-8e58-4c98-9878-e428e2e41dd7-2019-09-17T160000.000Z
↑ Open Targets Platform, ೨೪ ಆಗಸ್ಟ್ 2023, https://platform.opentargets.org/evidence/ENSG00000070814/MONDO_0002457, inferred from an Open Targets association score over 0.7
↑ ^೧೦.೦ ^೧೦.೧ HomoloGene build68, 68049
↑ Orthologous MAtrix, https://omabrowser.org/oma/vps/Q13428/
↑ ^{೧೨.೦೦} ^{೧೨.೦೧} ^{೧೨.೦೨} ^{೧೨.೦೩} ^{೧೨.೦೪} ^{೧೨.೦೫} ^{೧೨.೦೬} ^{೧೨.೦೭} ^{೧೨.೦೮} ^{೧೨.೦೯} Bgee, ೭ ಜೂನ್ 2024, https://www.bgee.org/gene/ENSG00000070814
↑ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

[rb0a68a12-1] 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 ^೧.೧೩ ^೧.೧೪ ^೧.೧೫ ^೧.೧೬ ^೧.೧೭ ^೧.೧೮ ^೧.೧೯ ^೧.೨೦ ^೧.೨೧ ^೧.೨೨ ^೧.೨೩ ^೧.೨೪ ^೧.೨೫ ^೧.೨೬ ^೧.೨೭ NCBI Gene, ೯ ಜನವರಿ 2022, 6949

[ra8fb26d0-2] ೨.೦೦ ^೨.೦೧ ^೨.೦೨ ^೨.೦೩ ^೨.೦೪ ^೨.೦೫ ^೨.೦೬ ^೨.೦೭ ^೨.೦೮ ^೨.೦೯ ^೨.೧೦ ^೨.೧೧ ^೨.೧೨ ^೨.೧೩ ^೨.೧೪ ^೨.೧೫ ^೨.೧೬ ^೨.೧೭ ^೨.೧೮ ^೨.೧೯ ^೨.೨೦ ^೨.೨೧ ^೨.೨೨ ^೨.೨೩ ^೨.೨೪ ^೨.೨೫ ^೨.೨೬ ^೨.೨೭ ^೨.೨೮ ensembl Release 105, ENSG00000070814

[reb0a93a5-3] UMLS 2023, ೧೫ ಜೂನ್ 2023, inferred by common HGNC mappings on source and on Wikidata

[r8fdf1270-4] Online Mendelian Inheritance in Man, ೧೯ ಆಗಸ್ಟ್ 2019

[r20890e24-5] Ensembl Release 87, ENSG00000070814

[r5572c5f6-6] UniProt, ೬ ಜುಲೈ 2017, Q13428

[r178245b9-7] ClinGen, ೯ ಡಿಸೆಂಬರ್ 2020, https://search.clinicalgenome.org/kb/gene-validity/3f91c5fe-8e58-4c98-9878-e428e2e41dd7--2019-09-17T16:00:00

[rd17f83df-8] ClinGen, ೨೫ ಜನವರಿ 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f91c5fe-8e58-4c98-9878-e428e2e41dd7-2019-09-17T160000.000Z

[r1199165a-9] Open Targets Platform, ೨೪ ಆಗಸ್ಟ್ 2023, https://platform.opentargets.org/evidence/ENSG00000070814/MONDO_0002457, inferred from an Open Targets association score over 0.7

[r3afad5f8-10] ೧೦.೦ ^೧೦.೧ HomoloGene build68, 68049

[r244f5e55-11] Orthologous MAtrix, https://omabrowser.org/oma/vps/Q13428/

[rb799097a-12] {೧೨.೦೦} ^{೧೨.೦೧} ^{೧೨.೦೨} ^{೧೨.೦೩} ^{೧೨.೦೪} ^{೧೨.೦೫} ^{೧೨.೦೬} ^{೧೨.೦೭} ^{೧೨.೦೮} ^{೧೨.೦೯} Bgee, ೭ ಜೂನ್ 2024, https://www.bgee.org/gene/ENSG00000070814

[r99e80de4-13] Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

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