Gene Information
|
Gene Name
|
PKHD1 |
|
Gene ID
|
5314
|
|
Gene Full Name
|
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
|
Gene Alias
|
ARPKD|FCYT|FPC|PCYT|PKD4|TIGM1 |
|
Transcripts
|
ENSG00000170927
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Primary cilium, Cytosol;Basal body;Intracellular and membrane; 
|
|
Membrane Info
|
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins |
|
Uniport_ID
|
P08F94
|
|
HGNC ID
|
HGNC:9016
|
|
OMIM ID
|
606702 |
|
Summary
|
The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008] |
Target gene [PKHD1] 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 |
| 6010894 |
chr6 |
5 |
23 |
1 |
29 |
View |
| 6014954 |
chr6 |
11 |
3 |
1 |
15 |
View |
| 6027613 |
chr6 |
0 |
2 |
0 |
2 |
View |
Target gene [PKHD1] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
C GSE94732
|
Chip-seq |
24 |
Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens) |
|
GSE168557
|
Expression array |
6 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version) |
|
GSE52244
|
Expression array |
15 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version] |
|
GSE10789
|
Expression array |
6 |
NCI/ATC Hs-OperonV3 |
|
GSE189602
|
Methylation profiling (Array) |
4 |
Infinium MethylationEPIC |
|
GSE136189
|
Methylation profiling (Array) |
40 |
Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE94732 - PKHD1 peak across samples
|
Peak Plot
|
|
|
HTLV1 Target gene Detail Information
