Type | Description |
---|---|
Definition | collagen type XI alpha 1 chain |
Date | Results | Publications |
---|---|---|
2021-03-27 14:42:00 | Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes. | 32427345 |
2021-03-20 13:28:00 | Mutation Spectrum and Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment. | 32756486 |
2021-01-09 13:26:00 | Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. | 31833174 |
2020-12-12 13:28:00 | Multifactor dimensionality reduction reveals a strong gene-gene interaction between STC1 and COL11A1 genes as a possible risk factor of knee osteoarthritis. | 32140959 |
2020-12-12 13:27:00 | Influence of genetic factors in elbow tendon pathology: a case-control study. | 32300121 |
Type | IDs |
---|---|
Synonymous | CO11A1, COLL6, STL2 |
Gene |
UniProtKB-ID:
COBA1_HUMAN,
Q59HB5_HUMAN
UniprotKB:
P12107,
Q59HB5
UniParc:
UPI00002053EF,
UPI0000456217,
UPI0001BE80B2,
UPI00004F6A88,
UPI0000456216
EMBL:
AF101109,
AF101104,
AF101107,
BC117697,
AF101091,
AF101084,
AF101111,
AF101082,
AF101094,
AL627203,
L38956,
AF101096,
AF101100,
J04177,
AF101092,
AC093150,
AF101105,
AF101081,
AF101103,
AF101098,
AF101083,
AF101087,
AF101085,
AF101110,
AF101106,
AF101090,
AF101080,
AF101099,
AC099567,
AF101088,
AF101108,
AF101095,
CH471097,
AF101112,
AF101089,
AF101093,
AF101086,
AB208844,
AF101097,
AF101101,
AF101102,
AF101079
Ensembl:
ENSG00000060718
KO:
hsa:1301
|
Nucleutide sequences |
EMBL-CDS:
AAA79171.1,
AAF04724.1,
AAA51891.1,
EAW72910.1,
AAF04725.1,
AAF04726.1,
AAI17698.1,
EAW72908.1,
BAD92081.1
Ensembl_TRS:
ENST00000512756,
ENST00000370096,
ENST00000358392,
ENST00000353414
|
Protein sequencees |
Ensembl_PRO:
ENSP00000359114,
ENSP00000302551,
ENSP00000426533,
ENSP00000351163
RefSeq:
XP_016855826.1,
NP_001845.3,
NP_542196.2,
XP_016855825.1,
XP_016855823.1,
XP_016855824.1,
NP_542197.3,
NP_001177638.1
|
Others |
UniRef100:
UniRef100_P12107,
UniRef100_Q59HB5
UniRef90:
UniRef90_A0A3P4LZ29,
UniRef90_P12107
UniRef50:
UniRef50_P12107,
UniRef50_A0A674CB24
UniGene:
Hs.523446
CCDS:
CCDS778.1,
CCDS53348.1,
CCDS780.2
|
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Refseq |
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