Gene Information
|
Gene Name
|
SPAG17 |
|
Gene ID
|
200162
|
|
Gene Full Name
|
sperm associated antigen 17 |
|
Gene Alias
|
CT143|PF6|SPGF55 |
|
Transcripts
|
ENSG00000155761
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Mid piece, Principal piece;Equatorial segment;
|
|
Membrane Info
|
Disease related genes, Human disease related genes, Predicted intracellular proteins |
|
Uniport_ID
|
Q6Q759
|
|
HGNC ID
|
HGNC:26620
|
|
OMIM ID
|
616554 |
|
Summary
|
This gene encodes a central pair protein present in the axonemes of cells with a "9 + 2" organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017] |
Target gene [SPAG17] 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 |
| 6005331 |
chr1 |
21 |
65 |
4 |
90 |
View |
| 6007419 |
chr1 |
56 |
0 |
0 |
56 |
View |
| 6010062 |
chr1 |
30 |
3 |
0 |
33 |
View |
| 6019547 |
chr1 |
5 |
3 |
0 |
8 |
View |
| 6025112 |
chr1 |
3 |
0 |
0 |
3 |
View |
| 6025113 |
chr1 |
0 |
3 |
0 |
3 |
View |
| 6027958 |
chr1 |
1 |
0 |
0 |
1 |
View |
Target gene [SPAG17] 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 - SPAG17 peak across samples
|
Peak Plot
|
|
|