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: 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

rs3787089 in RTEL1-TNFRSF6B;RTEL1 gene and Adenocarcinoma of large intestine PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs3208007 in RTEL1-TNFRSF6B;RTEL1 gene and Allergic Reaction PMID 29785011 2018 A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.

PMID 29083406 2017 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

rs3208007 in RTEL1-TNFRSF6B;RTEL1 gene and Asthma PMID 29785011 2018 A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.

rs3787089 in RTEL1-TNFRSF6B;RTEL1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs3787089 in RTEL1-TNFRSF6B;RTEL1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs3787089 in RTEL1-TNFRSF6B;RTEL1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs3787089 in RTEL1-TNFRSF6B;RTEL1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs2236507 in RTEL1-TNFRSF6B;RTEL1 gene and Central Nervous System Neoplasms PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

rs3787089 in RTEL1-TNFRSF6B;RTEL1 gene and Colorectal Carcinoma PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs3787089 in RTEL1-TNFRSF6B;RTEL1 gene and Colorectal Neoplasms PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs1470145133 in RTEL1-TNFRSF6B;RTEL1 gene and DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 PMID 23329068 2013 Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.

PMID 23959892 2013 Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.

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

PMID 23591994 2013 Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.

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 27415407 2017 Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.

rs1449687529 in RTEL1-TNFRSF6B;RTEL1 gene and Dyskeratosis Congenita PMID 25848748 2015 Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.

PMID 23829372 2014 Carrier frequency of two BBS2 mutations in the Ashkenazi population.

PMID 24582487 2014 RTEL1: functions of a disease-associated helicase.

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

PMID 25607374 2015 Rare variants in RTEL1 are associated with familial interstitial pneumonia.

rs35640778 in RTEL1-TNFRSF6B;RTEL1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2236507 in RTEL1-TNFRSF6B;RTEL1 gene and Glioma PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

rs748223349 in RTEL1-TNFRSF6B;RTEL1 gene and Idiopathic Pulmonary Fibrosis PMID 25607374 2015 Rare variants in RTEL1 are associated with familial interstitial pneumonia.

rs3787089 in RTEL1-TNFRSF6B;RTEL1 gene and Malignant neoplasm of large intestine PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs3787089 in RTEL1-TNFRSF6B;RTEL1 gene and Malignant tumor of colon PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs6011033 in RTEL1-TNFRSF6B;RTEL1 gene and Respiratory Tract Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.