Gene: RTEL1-TNFRSF6B

Alternate names for this Gene: -

Gene Summary: This locus represents naturally occurring read-through transcription between the neighboring RTEL1 (regulator of telomere elongation helicase 1) and TNFRSF6B (tumor necrosis factor receptor superfamily, member 6b, decoy) genes on chromosome 20. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.33

Description of this Gene: RTEL1-TNFRSF6B readthrough (NMD candidate)

Type of Gene: ncRNA

Gene: TNFRSF6B

Alternate names for this Gene: DCR3|DJ583P15.1.1|M68|M68E|TR6

Gene Summary: This gene belongs to the tumor necrosis factor receptor superfamily. The encoded protein is postulated to play a regulatory role in suppressing FasL- and LIGHT-mediated cell death. It acts as a decoy receptor that competes with death receptors for ligand binding. Over-expression of this gene has been noted in gastrointestinal tract tumors. Read-through transcription into this gene from the neighboring upstream gene, which encodes regulator of telomere elongation helicase 1 (RTEL1), generates a non-coding transcript.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.33

Description of this Gene: TNF receptor superfamily member 6b

Type of Gene: protein-coding

Gene: RTEL1

Alternate names for this Gene: C20orf41|DKCA4|DKCB5|NHL|PFBMFT3|RTEL

Gene Summary: This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.33

Description of this Gene: regulator of telomere elongation helicase 1

Type of Gene: protein-coding

rs201540674 in RTEL1-TNFRSF6B;TNFRSF6B;RTEL1 gene and DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 PMID 25099625 2014 Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD.

PMID 25620558 2015 TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.

PMID 25047097 2015 Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.

PMID 23453664 2013 Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

PMID 24009516 2013 A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

PMID 26025130 2015 A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.

rs201540674 in RTEL1-TNFRSF6B;TNFRSF6B;RTEL1 gene and Dyskeratosis Congenita PMID 26025130 2015 A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.

PMID 23453664 2013 Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

PMID 24009516 2013 A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

rs201540674 in RTEL1-TNFRSF6B;TNFRSF6B;RTEL1 gene and Idiopathic Pulmonary Fibrosis PMID 25607374 2015 Rare variants in RTEL1 are associated with familial interstitial pneumonia.

rs201540674 in RTEL1-TNFRSF6B;TNFRSF6B;RTEL1 gene and PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 PMID 24009516 2013 A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

PMID 25620558 2015 TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.

PMID 26025130 2015 A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.

PMID 25047097 2015 Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.

PMID 23453664 2013 Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

PMID 25099625 2014 Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD.