Gene Information
|
Gene Name
|
CFTR |
|
Gene ID
|
1080
|
|
Gene Full Name
|
CF transmembrane conductance regulator |
|
Gene Alias
|
ABC35|ABCC7|CF|CFTR/MRP|MRP7|TNR-CFTR|dJ760C5.1 |
|
Transcripts
|
ENSG00000001626
|
|
Virus
|
EBV |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
|
|
Membrane Info
|
Cancer-related genes, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters |
|
Uniport_ID
|
P13569
|
|
HGNC ID
|
HGNC:1884
|
|
OMIM ID
|
602421 |
|
Summary
|
This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017] |
Target gene [CFTR] related to VISs 
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 3000840 |
chr7 |
1 |
2 |
0 |
3 |
View |
Target gene [CFTR] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE42867
|
Expression array |
12 |
[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array |
|
C GSE246060
|
Chip-seq |
26 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE45919
|
Expression array |
24 |
Illumina HumanHT-12 V4.0 expression beadchip |
|
GSE198332
|
Methylation profiling (Array) |
7 |
Infinium MethylationEPIC |
|
GSE223328
|
Expression array |
16 |
Agilent-072363 SurePrint G3 Human GE v3 8x60K Microarray 039494 [Probe Name Version] |
|
GSE208281
|
RNA-seq |
50 |
Illumina NextSeq 500 (Homo sapiens) |
|
GSE100458
|
Expression array |
14 |
[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array [CDF: Brainarray HGU133Plus2_Hs_ENTREZG_v21] |
|
C GSE198334
|
Chip-seq |
4 |
Illumina NextSeq 500 (Homo sapiens) |
|
GSE165194
|
RNA-seq |
3 |
Illumina NextSeq 500 (Homo sapiens) |
|
C GSE246059
|
ATAC-seq |
8 |
Illumina NextSeq 500 (Homo sapiens);Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE177046
|
RNA-seq |
6 |
Illumina HiSeq 2000 (Homo sapiens) |
|
GSE135644
|
Expression array |
10 |
Sentrix Human-6 v2 Expression BeadChip |
|
C GSE225248
|
Chip-seq |
12 |
Illumina NextSeq 500 (Homo sapiens) |
|
GSE102203
|
Expression array |
10 |
[HuGene-2_0-st] Affymetrix Human Gene 2.0 ST Array [probe set (exon) version] |
|
GSE85599
|
Expression array |
17 |
[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version] |
|
GSE12452
|
Expression array |
41 |
[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array |
|
GSE58240
|
Expression array |
32 |
Illumina HumanHT-12 V4.0 expression beadchip |
|
GSE181906
|
RNA-seq |
24 |
Illumina NovaSeq 6000 (Homo sapiens) |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE246060 - CFTR peak across samples
|
Peak Plot
|
> Dataset: GSE198334 - CFTR peak across samples
|
Peak Plot
|
> Dataset: GSE246059 - CFTR peak across samples
|
Peak Plot
|
> Dataset: GSE225248 - CFTR peak across samples
|
Peak Plot
|
|
|
EBV Target gene Detail Information
