Property Summary

NCBI Gene PubMed Count 28
Grant Count 2
R01 Count 2
Funding $165,730.5
PubMed Score 6.01
PubTator Score 7.26

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
posterior fossa group B ependymoma 3.500 0.000
colon cancer 1.400 0.025
lung carcinoma -1.600 0.000

Gene RIF (8)

PMID Text
26928228 Expression of ESR1, RMND1 and CCDC170 associated with variants in separate enhancer elements predisposing breast cancer. [meta-analysis]
26911590 Genetic variation at the WLS and CCDC170/ESR1 loci were found to be significantly associated with bone mineral density
25370037 Data suggest that rs2046210 SNPs located in the region of C6ORF97 (CCDC170)-estrogen receptor alpha (ESR1) might have substantial roles not only in carcinogenesis but also in progression toward a more aggressive phenotype in breast cancer patients.
25338983 Variation in rs3757318 of C6orf97 is associated with breast cancer risk.
25099679 ESR1-CCDC170 rearrangements are found in an aggressive subset of estrogen receptor-positive breast cancers
24481879 Our findings suggest that ESR1 and C6orf97 gene polymorphism is associated with fracture and vertebral fracture risk in Chinese postmenopausal women.
20661439 SNPs associated with breast cancer differ for Asian, European, and African ancestry groups
20200978 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MSLDCTSHIALGAASPAPEETYDHLSEVPVTREQLNHYRNVAQNARSELAATLVKFECAQSELQDLRSKM      1 - 70
LSKEVSCQELKAEMESYKENNARKSSLLTSLRDRVQELEEESAALSTSKIRTEITAHAAIKENQELKKKV     71 - 140
VELNEKLQKCSKENEENKKQVSKNCRKHEEFLTQLRDCLDPDERNDKASDEDLILKLRDLRKENEFVKGQ    141 - 210
IVILEETINVHEMEAKASRETIMRLASEVNREQKKAASCTEEKEKLNQDLLSAVEAKEALEREVKIFQER    211 - 280
LLAGQQVWDASKQEVSLLKKSSSELEKSLKASQDAVTTSQSQYFSFREKIAALLRGRLSMTGSTEDTILE    281 - 350
KIREMDSREESRDRMVSQLEAQISELVEQLGKESGFHQKALQRAQKAENMLETLQGQLTHLEAELVSGGV    351 - 420
LRDNLNFEKQKYLKFLDQLSQKMKLDQMAAELGFDMRLDVVLARTEQLVRLESNAVIENKTIAHNLQRKL    421 - 490
KTQKERLESKELHMSLLRQKIAQLEEEKQARTALVVERDNAHLTIRNLQKKVERLQKELNTCRDLHTELK    491 - 560
AKLADTNELKIKTLEQTKAIEDLNKSRDQLEKMKEKAEKKLMSVKSELDTTEHEAKENKERARNMIEVVT    561 - 630
SEMKTLKKSLEEAEKREKQLADFREVVSQMLGLNVTSLALPDYEIIKCLERLVHSHQHHFVTCACLKDVT    631 - 700
TGQERHPQGHLQLLH                                                           701 - 715
//

Text Mined References (28)

PMID Year Title
26928228 2016 Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
26911590 2016 Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density.
25416956 2014 A proteome-scale map of the human interactome network.
25370037 2015 C6ORF97-ESR1 breast cancer susceptibility locus: influence on progression and survival in breast cancer patients.
25338983 2014 Current evidence on the association between rs3757318 of C6orf97 and breast cancer risk: a meta-analysis.
25099679 2014 Recurrent ESR1-CCDC170 rearrangements in an aggressive subset of oestrogen receptor-positive breast cancers.
24481879 2014 Association of ESR1 and C6orf97 gene polymorphism with osteoporosis in postmenopausal women.
24430505 2014 Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.
24325915 2014 Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
24249740 2014 Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
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