(Q18032971)

English

OFD1

protein-coding gene in the species Homo sapiens

71-7A
CXorf5
JBTS10
RP23
SGBS2
oral-facial-digital syndrome 1
OFD1, centriole and centriolar satellite protein
OFD1 centriole and centriolar satellite protein

In more languages

default for all languages

No label defined

No description defined

Statements

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000046651

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

1 reference

6 July 2017

UniProt protein ID

genetic association

Joubert syndrome 10

1 reference

UniProt protein ID

13 August 2019

retinitis pigmentosa 23

1 reference

UniProt protein ID

13 August 2019

2 references

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/15e32789-4f24-4870-94d3-b5618e67509f--2018-04-27T16:51:36

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_15e32789-4f24-4870-94d3-b5618e67509f-2018-04-27T165136.294Z

Simpson-Golabi-Behmel syndrome type 2

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000046651/MONDO_0010265

based on heuristic

inferred from an Open Targets association score over 0.7

orofaciodigital syndrome I

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000046651/Orphanet_2750

based on heuristic

inferred from an Open Targets association score over 0.7

Joubert syndrome with orofaciodigital defect

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000046651/Orphanet_2754

based on heuristic

inferred from an Open Targets association score over 0.7

human X chromosome

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

13752832

human X chromosome

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

13734743

human X chromosome

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

13787480

human X chromosome

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

13777955

human X chromosome

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

cytogenetic location

Xp22.2

1 reference

9 January 2022

2677

1 reference

9 January 2022

Gene Atlas image

PBB GE OFD1 203569 s at fs.png
732 × 530; 11 KB

0 references

2 references

HomoloGene build68

2677

Orthologous MAtrix

https://omabrowser.org/oma/vps/O75665/

2 references

HomoloGene build68

2677

Orthologous MAtrix

https://omabrowser.org/oma/vps/O75665/

1 reference

HomoloGene build68

2677

1

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000046651

bronchial epithelial cell

2

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000046651

right uterine tube

3

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000046651

olfactory zone of nasal mucosa

4

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000046651

5

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000046651

6

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000046651

tendon of biceps brachii

7

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000046651

8

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000046651

left lobe of thyroid gland

9

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000046651

10

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000046651

http://identifiers.org/ncbigene/8481

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

Ensembl gene ID

ENSG00000046651

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

Ensembl transcript ID

ENST00000490265

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000340096

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000380550

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000380567

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000398395

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000464463

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000466534

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000474705

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000485052

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000684401

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000683065

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000683655

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000683427

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000682237

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000682562

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000683284

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000683454

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000683055

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000682953

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000683637

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000684577

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

ENST00000683713

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000046651

HGNC gene symbol

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

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Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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