TRPS1 (Entrez ID: 7227)

Entrez Gene ID	7227
Official Gene Symbol	TRPS1 (GeneCards)
Full name	transcriptional repressor GATA binding 1
Location	8q23.3
Other ids	Vega : OTTHUMG00000142829 MIM : 604386 HGNC : HGNC:12340 Ensembl : ENSG00000104447
Other names	GC79, LGCR
Summary	This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]

Variants

Found 8 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
64	7227	TRPS1	8	116430646	116430646	Trichorhinophalangeal syndrome type1	Roche454
11866	7227	TRPS1	8	116662988	116662988	Asymptomatic	Roche454 HiSeq X Ten
11867	7227	TRPS1	8	116909000	116909000	Asymptomatic	Roche454 HiSeq X Ten
12120	7227	TRPS1	8	116638608	116638608		Roche454 HiSeq X Ten
12405	7227	TRPS1	8	116955146	116955146	Asymptomatic	Roche454 HiSeq X Ten
12452	7227	TRPS1	8	116437765	116437765	Asymptomatic	Roche454 HiSeq X Ten
23296	7227	TRPS1	8	116635051	116635051	Asymptomatic	Roche454 HiSeq X Ten Single cell Sequencing Cell cloning
29535	7227	TRPS1	8	116616940	116616940	Autism Spectrum Disorders	Roche454 HiSeq X Ten Single cell Sequencing Cell cloning MiSeq