Gene: STN1

Alternate names for this Gene: AAF-44|AAF44|OBFC1|RPA-32|bA541N10.2

Gene Summary: OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.1243.1, SRR1803615.185582.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000224950.8/ ENSP00000224950.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

Gene is located in Chromosome: 10

Location in Chromosome : 10q24.33

Description of this Gene: STN1 subunit of CST complex

Type of Gene: protein-coding

rs9419958 in STN1 gene and Basal Cell Cancer PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs9419958 in STN1 gene and Basal Cell Neoplasm PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs9419958 in STN1 gene and Basal cell carcinoma PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs11598018 in STN1 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.

rs10883944 in STN1 gene and Chronic Obstructive Airway Disease PMID 30940143 2019 Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis.

PMID 30804561 2019 Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.

rs12765878 in STN1 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs2995264 in STN1 gene and Cutaneous Melanoma PMID 26237428 2015 Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

rs3814219 in STN1 gene and Diagnostic Techniques, Cardiovascular PMID 17903301 2007 Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.

rs111447985 in STN1 gene and Diastolic blood pressure PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

PMID 27618447 2016 Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

rs10786774 in STN1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11191841 in STN1 gene and Forced expiratory volume function PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs11598018 in STN1 gene and Glioma PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

rs4387287 in STN1 gene and Hypertensive disease PMID 27618447 2016 Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

rs11191865 in STN1 gene and Lung Diseases, Interstitial PMID 23583980 2013 Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.

rs2995264 in STN1 gene and Malignant melanoma of skin of lower limb PMID 26237428 2015 Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

rs2995264 in STN1 gene and Malignant melanoma of skin of upper limb PMID 26237428 2015 Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

rs9419958 in STN1 gene and Plexiform leiomyoma PMID 31649266 2019 Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.

rs10883944 in STN1 gene and RESTING HEART RATE PMID 30940143 2019 Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis.

rs11191847 in STN1 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27618447 2016 Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

rs9419958 in STN1 gene and Uterine Fibroids PMID 31649266 2019 Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.

rs11191841 in STN1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs2995264 in STN1 gene and melanoma PMID 28212542 2017 Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.

rs11191841 in STN1 gene and peak expiratory flow (procedure) PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.