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

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

rs2738783 in RTEL1;RTEL1-TNFRSF6B gene and Adenocarcinoma of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs2738783 in RTEL1;RTEL1-TNFRSF6B gene and Adenoma of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs2738783 in RTEL1;RTEL1-TNFRSF6B gene and Asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

rs2738783 in RTEL1;RTEL1-TNFRSF6B gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs2738783 in RTEL1;RTEL1-TNFRSF6B gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs2738783 in RTEL1;RTEL1-TNFRSF6B gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs2738783 in RTEL1;RTEL1-TNFRSF6B gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs2297440 in RTEL1;RTEL1-TNFRSF6B gene and Central Nervous System Neoplasms PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

PMID 19578366 2009 Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.

PMID 22886559 2012 Genome-wide association study of glioma and meta-analysis.

PMID 24908248 2014 Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.

PMID 19578367 2009 Genome-wide association study identifies five susceptibility loci for glioma.

PMID 21531791 2011 Chromosome 7p11.2 (EGFR) variation influences glioma risk.

rs2738783 in RTEL1;RTEL1-TNFRSF6B gene and Colorectal Carcinoma PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs2738783 in RTEL1;RTEL1-TNFRSF6B gene and Colorectal Neoplasms PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs370343781 in RTEL1;RTEL1-TNFRSF6B gene and DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 PMID 19461895 2009 Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome.

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

PMID 23329068 2013 Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in 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 23959892 2013 Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.

PMID 27418648 2016 Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.

PMID 26808564 2016 TCR αβ and CD19-depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation.

PMID 28930861 2017 Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.

PMID 27128385 2016 Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome.

PMID 28099038 2017 An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.

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

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

rs4809219 in RTEL1;RTEL1-TNFRSF6B gene and Dermatitis, Atopic PMID 26482879 2015 Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.

PMID 21666691 2011 Genome-wide association study identifies two new susceptibility loci for atopic dermatitis in the Chinese Han population.

rs1555899111 in RTEL1;RTEL1-TNFRSF6B gene and Dyskeratosis Congenita PMID 24582487 2014 RTEL1: functions of a disease-associated helicase.

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

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

PMID 23329068 2013 Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.

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

rs2297440 in RTEL1;RTEL1-TNFRSF6B gene and Glioblastoma PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

PMID 30152087 2018 Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age.

PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

rs2297440 in RTEL1;RTEL1-TNFRSF6B gene and Glioblastoma Multiforme PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

PMID 30152087 2018 Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age.

PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

rs2297440 in RTEL1;RTEL1-TNFRSF6B gene and Glioma PMID 19578367 2009 Genome-wide association study identifies five susceptibility loci for glioma.

PMID 29743610 2018 Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21.

PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

PMID 19578366 2009 Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.

PMID 19578367 2009 We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (rs4295627, CCDC26; P = 2.34 x 10(-18)), 9p21.3 (rs4977756, CDKN2A-CDKN2B; P = 7.24 x 10(-15)), 20q13.33 (rs6010620, RTEL1; P = 2.52 x 10(-12)) and 11q23.3 (rs498872, PHLDB1; P = 1.07 x 10(-8)).

PMID 21531791 2011 Chromosome 7p11.2 (EGFR) variation influences glioma risk.

PMID 22886559 2012 Genome-wide association study of glioma and meta-analysis.

PMID 30714141 2019 Two novel genetic variants in the STK38L and RAB27A genes are associated with glioma susceptibility.

PMID 24908248 2014 Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.

rs146221660 in RTEL1;RTEL1-TNFRSF6B gene and Idiopathic Pulmonary Fibrosis PMID 25607374 2015 Rare variants in RTEL1 are associated with familial interstitial pneumonia.

rs2738783 in RTEL1;RTEL1-TNFRSF6B gene and Malignant neoplasm of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs2738783 in RTEL1;RTEL1-TNFRSF6B gene and Malignant tumor of colon PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs4809324 in RTEL1;RTEL1-TNFRSF6B gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs370343781 in RTEL1;RTEL1-TNFRSF6B gene and PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 PMID 23959892 2013 Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.

PMID 19461895 2009 Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome.

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

PMID 27418648 2016 Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.

PMID 26808564 2016 TCR αβ and CD19-depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation.

PMID 27128385 2016 Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome.

PMID 28099038 2017 An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.

PMID 28930861 2017 Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.

PMID 23329068 2013 Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.

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

rs6062302 in RTEL1;RTEL1-TNFRSF6B gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.