Gene: TREX1

Alternate names for this Gene: AGS1|CRV|DRN3|HERNS

Gene Summary: This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: three prime repair exonuclease 1

Type of Gene: protein-coding

Gene: ATRIP-TREX1

Alternate names for this Gene: -

Gene Summary: This gene represents naturally occurring read-through transcription between adjacent genes ATRIP (ATR-interacting protein) and TREX1 (three-prime repair exonuclease 1). The read-through transcript does not encode a protein.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: ATRIP-TREX1 readthrough

Type of Gene: ncRNA

Gene: ATRIP

Alternate names for this Gene: -

Gene Summary: This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: ATR interacting protein

Type of Gene: protein-coding

rs74689946 in TREX1;ATRIP-TREX1;ATRIP gene and AICARDI-GOUTIERES SYNDROME 1 PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 17357087 2007 Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

PMID 20799324 2010 A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

PMID 23979357 2013 The TREX1 C-terminal region controls cellular localization through ubiquitination.

PMID 17293595 2007 The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering.

PMID 18045533 2007 Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease.

PMID 16845398 2006 Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

rs78300695 in TREX1;ATRIP-TREX1;ATRIP gene and Abnormality of the medulla oblongata PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs78300695 in TREX1;ATRIP-TREX1;ATRIP gene and Abnormality of the periventricular white matter PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs78300695 in TREX1;ATRIP-TREX1;ATRIP gene and Cerebellar Hypoplasia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs78300695 in TREX1;ATRIP-TREX1;ATRIP gene and Cortical gyral simplification PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs78300695 in TREX1;ATRIP-TREX1;ATRIP gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs78300695 in TREX1;ATRIP-TREX1;ATRIP gene and Hypoplasia of the brainstem PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs78300695 in TREX1;ATRIP-TREX1;ATRIP gene and Seizures PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.