| Type | Description |
|---|---|
| Definition | collagen type IX alpha 1 chain |
| Date | Results | Publications |
|---|---|---|
| 2021-01-30 13:03:00 | Gene Environment Interactions Between the COL9A1 Gene and Maternal Drinking of Alcohol Contribute to the Risk of Congenital Talipes Equinovarus. | 33372835 |
| 2020-08-13 17:10:00 | Homozygous type IX collagen variants, COL9A1, COL9A2, and COL9A3, causing recessive Stickler syndrome, expand the disease phenotype. | 31090205 |
| 2020-02-15 10:07:00 | The present study emphasizes the importance of exome-wide copy number variation analysis in molecular diagnosis and provides supporting evidence to associate COL9A1 with autosomal recessive non-syndromic HL. | 31315069 |
| 2019-11-02 11:32:00 | Two tagSNPs, rs28647489 in FAT1 gene and rs550675 in COL9A1 gene, were significantly associated with the risk of oral malignancy. | 30657779 |
| 2019-04-13 10:27:00 | Whole-genome sequencing reveals possible role of deleterious mutation of COL9A1 in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population. | 30577800 |
| Type | IDs |
|---|---|
| Synonymous | DJ149L1.1.2, EDM6, MED, STL4 |
| Gene |
UniProtKB-ID:
CO9A1_HUMAN
UniprotKB:
P20849
UniParc:
UPI0000070E83,
UPI0000227E4C,
UPI000020D14B
EMBL:
AF036122,
AF036126,
AF036112,
AF036128,
BC063646,
AF036129,
X54413,
AF036125,
AL160262,
AF036119,
AF036123,
AF036121,
AF036118,
M32133,
AF036110,
AF036111,
M32137,
AF036114,
AF036117,
BC015409,
AL080275,
AF036115,
AF036130,
AF036116,
AF036124,
M32135,
AF036120,
AF036113,
AF036127,
X54412
Ensembl:
ENSG00000112280
KO:
hsa:1297
|
| Nucleutide sequences |
EMBL-CDS:
AAA53474.1,
CAA38277.1,
AAH15409.1,
AAC33528.1,
AAA53475.1,
AAC33527.1,
CAA38276.1,
AAH63646.1
Ensembl_TRS:
ENST00000370496,
ENST00000320755,
ENST00000357250
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000359527,
ENSP00000315252,
ENSP00000349790
RefSeq:
XP_016865736.1,
XP_016865735.1,
XP_011533731.1,
NP_001364219.1,
NP_001364218.1,
NP_511040.2,
NP_001842.3,
NP_001364220.1
|
| Others |
UniRef100:
UniRef100_P20849
UniRef90:
UniRef90_P20849
UniRef50:
UniRef50_P20849
UniGene:
Hs.590892
CCDS:
CCDS47447.1,
CCDS4971.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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