Gene Information
|
Gene Name
|
RSPH4A |
|
Gene ID
|
345895
|
|
Gene Full Name
|
radial spoke head component 4A |
|
Gene Alias
|
CILD11|RSHL3|RSPH6B|dJ412I7.1 |
|
Transcripts
|
ENSG00000111834
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Connecting piece, Flagellar centriole;Annulus;
|
|
Membrane Info
|
Disease related genes, Human disease related genes, Predicted intracellular proteins |
|
Uniport_ID
|
Q5TD94
|
|
HGNC ID
|
HGNC:21558
|
|
OMIM ID
|
612647 |
|
Summary
|
This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] |
Target gene [RSPH4A] 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 |
| 6020762 |
chr6 |
6 |
0 |
0 |
6 |
View |
Target gene [RSPH4A] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE189602
|
Methylation profiling (Array) |
4 |
Infinium MethylationEPIC |
|
GSE168557
|
Expression array |
6 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version) |
|
C GSE94732
|
Chip-seq |
24 |
Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens) |
|
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 - RSPH4A peak across samples
|
Peak Plot
|
|
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