COL7A1 (Q5145892)

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protein-coding gene in the species Homo sapiens

EBD1
EBDCT
EBR1
NDNC8
collagen type VII alpha 1
collagen type VII alpha 1 chain

Language	Label	Description	Also known as
English	COL7A1	protein-coding gene in the species Homo sapiens	EBD1 EBDCT EBR1 NDNC8 collagen type VII alpha 1 collagen type VII alpha 1 chain

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000114270

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000114270

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000114270

Collagen type VII alpha 1 chain

1 reference

6 July 2017

UniProt protein ID

genetic association

transient bullous dermolysis of the newborn

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000114270/MONDO_0007548

based on heuristic

inferred from an Open Targets association score over 0.7

pretibial dystrophic epidermolysis bullosa

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000114270/MONDO_0007552

based on heuristic

inferred from an Open Targets association score over 0.7

dystrophic epidermolysis bullosa pruriginosa

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000114270/MONDO_0011398

based on heuristic

inferred from an Open Targets association score over 0.7

nonsyndromic congenital nail disorder 8

1 reference

UniProt protein ID

13 August 2019

epidermolysis bullosa dystrophica

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000114270/Orphanet_303

based on heuristic

inferred from an Open Targets association score over 0.7

inherited isolated nail anomaly

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000114270/Orphanet_79369

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 3

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000114270

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000114270

48564073

human chromosome 3

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000114270

48601506

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000114270

48632700

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000114270

48595329

human chromosome 3

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000114270

cytogenetic location

3p21.31

1 reference

15 May 2022

73

1 reference

15 May 2022

Gene Atlas image

PBB GE COL7A1 217312 s at fs.png
732 × 530; 11 KB

0 references

PBB GE COL7A1 204136 at fs.png
732 × 530; 12 KB

0 references

2 references

HomoloGene build68

73

Orthologous MAtrix

https://omabrowser.org/oma/vps/Q02388/

2 references

HomoloGene build68

73

Orthologous MAtrix

https://omabrowser.org/oma/vps/Q02388/

1 reference

HomoloGene build68

73

stromal cell of endometrium

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000114270

skin of abdomen

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000114270

canal of the cervix

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000114270

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000114270

periodontal fiber

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000114270

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000114270

minor salivary glands

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000114270

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000114270

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000114270

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000114270

http://identifiers.org/ncbigene/1294

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

Ensembl gene ID

ENSG00000114270

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000114270

Ensembl transcript ID

ENST00000328333

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000114270

ENST00000422991

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000114270

ENST00000459756

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000114270

ENST00000462475

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000114270

ENST00000465238

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000114270

ENST00000466591

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000114270

ENST00000467985

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000114270

ENST00000470076

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000114270

ENST00000474432

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000114270

ENST00000487017

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000114270

ENST00000681320

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000114270

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(0 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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