View gene DDR1 - VitiVar - Compendium of genes and variants associated with vitiligo

VitiVar - Compendium of genes and variants associated with vitiligo

discoidin domain receptor tyrosine kinase 1 (DDR1)

LOVD v.3.0 Build 13 [ Current LOVD status ]
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Curator: IGIB

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View gene DDR1

General information
Gene symbol	DDR1
Gene name	discoidin domain receptor tyrosine kinase 1
Chromosome	6
Chromosomal band	p21.33
Gene Alias
Imprinted	Unknown
Genomic reference	NG_029066.1
Transcript reference	NM_013994.2
Study Type	Both
Expression Status[Source: Literature]	Associated with DOWNREGULATION in Vitiligo Silva et al.(2010);Reichert et al.(2013);Ricard et al.(2012); Elgarhy et al.(2016)
Expression Summary[Source: Literature]	Sample : Skin \|\| Population : Brazilian;NA;NA \|\| Gene name used in study : DDR1
Total number of public variants reported	2
Unique public DNA variants reported	2
Individuals with public variants	0
Hidden variants	0
Curators (1)	IGIB
Date created	September 03, 2015
Date last updated	September 03, 2015
Version	DDR1:150903

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Gene Expression Meta-Analysis	http://vitivar.igib.res.in/gestatus.php?id=DDR1
HGNC	2730
Entrez Gene	780
PubMed articles	DDR1
OMIM - Gene	600408
HGMD	DDR1
GeneCards	DDR1
GeneTests	DDR1

Active transcripts

Legend

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00252	6	transcript variant 3	NM_013994.2	NP_054700.2	2

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