Entry Detail



General Information

Database ID:LDA0003794
Species:Homo sapiens
Confidence Score:0.8785
Contents:>> ncRNA Information
>> Regulatory Relationship
>> Disease Information
>> Evidence Support
>> Reference

 

ncRNA Information

ncRNA Symbol:XIST
Full Name:X inactive specific transcript (non-protein coding)
Category:lncRNA
Species:Homo sapiens
Synonyms:NCRNA00001//DXS1089//swd66//LINC00001
Chromosome:X
Strand:-
Coordinate:
Start Site(bp):73820651End Site(bp):73852753
Gene Summary:X inactivation is an early developmental process in mammalian females that transcriptionally silences one of the pair of X chromosomes, thus providing dosage equivalence between males and females. The process is regulated by several factors, including a region of chromosome X called the X inactivation center (XIC). The XIC comprises several non-coding and protein-coding genes, and this gene was the first non-coding gene identified within the XIC. This gene is expressed exclusively from the XIC of the inactive X chromosome, and is essential for the initiation and spread of X-inactivation. The transcript is a spliced RNA. Alternatively spliced transcript variants have been identified, but their full length sequences have not been determined. Mutations in the XIST promoter cause familial skewed X inactivation. [provided by RefSeq, Apr 2012]
External Links:
Ensembl ID:ENSG00000229807
HGNC ID:HGNC:12810
Entrez Gene:7503
VEGA ID:OTTHUMG00000021839
UCSC ID:uc004ebm.3
ENA:M97168
RefSeq Accession:NR_001564
UniProtKB:N/A

 

Regulatory Relationship

mRNA targets:N/A
miRNA targets:N/A
Display:N/A

 

Disease Information

 Disease OntologyMeSH
Disease ID:DOID:4464D002292
Disease Name:collecting duct carcinomaCarcinoma, Renal Cell
Category:Disease OntologyMeSH
Type:disease of cellular proliferationNeoplasms//Male Urogenital Diseases//Female Urogenital Diseases and Pregnancy Complications
Define:Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body).A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma.
Alias:carcinoma of renal Collecting duct//renal carcinoma, collecting duct type//renal Medullary carcinomaCarcinomas, Renal Cell//Renal Cell Carcinomas//Nephroid Carcinoma//Carcinoma, Nephroid//Carcinomas, Nephroid//Nephroid Carcinomas//Adenocarcinoma Of Kidney//Renal Cell Carcinoma//Renal Cell Carcinoma, Papillary//Adenocarcinoma, Renal//Adenocarcinoma, Renal Cell//Adenocarcinomas, Renal Cell//Renal Cell Adenocarcinoma//Renal Cell Adenocarcinomas//Renal Cell Cancer//Cancer, Renal Cell//Cancers, Renal Cell//Renal Cell Cancers//Clear Cell Renal Cell Carcinoma//Hypernephroma//Hypernephromas//Grawitz Tumor//Tumor, Grawitz//Carcinoma, Hypernephroid//Carcinomas, Hypernephroid//Hypernephroid Carcinoma//Hypernephroid Carcinomas//Clear Cell Renal Carcinoma//Sarcomatoid Renal Cell Carcinoma//Papillary Renal Cell Carcinoma//Chromophil Renal Cell Carcinoma//Chromophobe Renal Cell Carcinoma//Collecting Duct Carcinoma (Kidney)//Carcinomas, Collecting Duct (Kidney)//Duct Carcinoma, Collecting (Kidney)//Collecting Duct Carcinoma of the Kidney//Renal Collecting Duct Carcinoma//Collecting Duct Carcinoma//Carcinoma, Collecting Duct//Carcinomas, Collecting Duct//Collecting Duct Carcinomas//Duct Carcinoma, Collecting//Duct Carcinomas, Collecting

 

Evidence Support

Strong Evidence:Western blot
Weak Evidence:Microarray
Prediction Method:N/A

 

Reference

[1] PubMed ID:19154479
Disease Name:collecting duct carcinoma
Sample:cell line (AP3, AP8-CDC)
Dysfunction Pattern:Regulation [up-regulated]
Validated Method:Western blot//Microarray
Description:In cell linecreated from the tissue of both a male patient and a female patient with collecting duct carcinoma of the kidney,the XIST gene,along with several other chromosome X genes,was found to have an increase in copy number. The results suggest that TOP1 might be one of the molecular targets in AP8 CDC cells. Thus,these novel CDC cell linewill be useful for discovering therapeutic targets and developing effective anticancer drugs against CDC.
Author:Wu ZS,Lee JH,Kwon JA,Kim SH,Han SH,An JS,Lee JH,Lee ES,Park HR,Kim YS
Year:2009
Title:Genetic alterations and chemosensitivity profile in newly established human renal collecting duct carcinoma cell lines.
Causality:No