MCPH1 (Q6839328)

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protein-coding gene in the species Homo sapiens

BRIT1
MCT
microcephalin 1

Language	Label	Description	Also known as
English	MCPH1	protein-coding gene in the species Homo sapiens	BRIT1 MCT microcephalin 1

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000147316

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

Microcephalin 1

1 reference

6 July 2017

UniProt protein ID

genetic association

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_615&ncbiId=79648

http://www.genome.gov/gwastudies/index.cfm?gene=MCPH1

Genome-wide association study of epirubicin-induced leukopenia in Japanese patients

25 May 2020

microcephaly 1, primary, autosomal recessive

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000147316/MONDO_0009617

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 8

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

6264113

human chromosome 8

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

6406592

human chromosome 8

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

6501144

human chromosome 8

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

6648508

human chromosome 8

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

cytogenetic location

8p23.1

1 reference

15 May 2022

32586

1 reference

15 May 2022

1 reference

HomoloGene build68

32586

1 reference

HomoloGene build68

32586

secondary oocyte

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000147316

ganglionic eminence

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000147316

Achilles tendon

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000147316

bone marrow cells

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000147316

gastrocnemius muscle

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000147316

popliteal artery

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000147316

stromal cell of endometrium

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000147316

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000147316

islet of Langerhans

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000147316

smooth muscle tissue

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000147316

http://identifiers.org/ncbigene/79648

1 reference

Identifiers.org

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

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

10 April 2022

1 reference

10 April 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000147316

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENSG00000285262

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

Ensembl transcript ID

ENST00000522905

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000344683

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000519221

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000519480

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000521129

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000521175

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000522020

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000643429

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000646478

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000644096

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000645678

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000644366

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000647051

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000647416

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000688658

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000689736

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000688099

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000688912

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000690708

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000684782

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000690682

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000690518

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000688101

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000692836

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000687413

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000692534

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000687324

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000688452

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000689348

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000690159

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000689148

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000691435

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000687577

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000691738

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000687720

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000689633

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000691655

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000686882

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000686750

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000690826

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000685179

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000693528

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000693231

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000688388

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000692938

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

ENST00000687874

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147316

0 references

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 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

Wikipedia(10 entries)

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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