Property Summary

NCBI Gene PubMed Count 28
PubMed Score 6.01
PubTator Score 7.26

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Malignant neoplasm of breast 63
Disease Target Count P-value
posterior fossa group B ependymoma 1530 6.0e-16
lung carcinoma 2844 1.2e-06
colon cancer 1475 2.5e-02
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Breast cancer 3098 3.111 1.6
Myeloid Leukemia 19 0.0 1.0
Osteoporosis 259 0.0 2.0
Disease Target Count
Estrogen resistance 2

Expression

  Differential Expression (3)

Disease log2 FC p
posterior fossa group B ependymoma 3.500 6.0e-16
colon cancer 1.400 2.5e-02
lung carcinoma -1.600 1.2e-06

Synonym

Accession Q8IYT3 Q5VXB7 Q6P9E4 Q96KA9 Q9H5M3
Symbols C6orf97
bA282P11.1

Gene

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

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.
23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
23437003 2013 Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure.
22504420 2012 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
21540461 2011 A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia.
21263130 2011 Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.
20661439 2010 Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus.
20453838 2010 Genome-wide association study identifies five new breast cancer susceptibility loci.
20200978 2010 Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.
19801982 2009 Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
19079262 2009 New sequence variants associated with bone mineral density.
18445777 2008 Multiple genetic loci for bone mineral density and fractures.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.