Gene Information
|
Gene Name
|
COL9A1 |
|
Gene ID
|
1297
|
|
Gene Full Name
|
collagen type IX alpha 1 chain |
|
Gene Alias
|
DJ149L1.1.2|EDM6|MED|STL4 |
|
Transcripts
|
ENSG00000112280
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Secreted to extracellular matrix; 
|
|
Membrane Info
|
Disease related genes, Human disease related genes, Predicted secreted proteins |
|
Uniport_ID
|
P20849
|
|
HGNC ID
|
HGNC:2217
|
|
OMIM ID
|
120210 |
|
Summary
|
This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
Target gene [COL9A1] 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 |
| 6025997 |
chr6 |
2 |
0 |
0 |
2 |
View |
| 6026018 |
chr6 |
2 |
0 |
0 |
2 |
View |
| 6029549 |
chr6 |
0 |
0 |
1 |
1 |
View |
| 6029550 |
chr6 |
0 |
0 |
1 |
1 |
View |
Target gene [COL9A1] 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 - COL9A1 peak across samples
|
Peak Plot
|
|
|
HTLV1 Target gene Detail Information
