| Type | Description |
|---|---|
| Definition | carbohydrate sulfotransferase 6 |
| Date | Results | Publications |
|---|---|---|
| 2020-04-18 11:31:00 | vast majority of variants likely to be protein-damaging | 30716718 |
| 2018-02-03 10:42:00 | This is the first molecular analysis of TGFBI and CHST6 in Turkish patients with different types of corneal dystrophies. | 27829782 |
| 2017-05-06 10:08:00 | E71Q mutation results in a non-conservative amino acid change in a highly conserved functional domain of the human CHST6 that is essential for enzyme activity as the cause of Macular corneal dystrophy. | 27439461 |
| 2016-06-28 10:41:00 | Three novel and six previously reported disease-causing CHST6 mutations were identified in Korean patients with macular corneal dystrophy. | 26604660 |
| 2015-04-18 11:52:00 | Homozygous or compound heterozygous CHST6 mutations were identified in all cases, including two novel mutations, c.13C>T; p.(Arg5Cys) and c.289C>T; p.(Arg97Cys). | 25081284 |
| Type | IDs |
|---|---|
| Synonymous | MCDC1 |
| Gene |
UniProtKB-ID:
CHST6_HUMAN
UniprotKB:
Q9GZX3
UniParc:
UPI00000467C8
EMBL:
CH471114,
BC074834,
AF219991,
AF219990,
BC074883,
AF280086
Ensembl:
ENSG00000183196
KO:
hsa:4166
|
| Nucleutide sequences |
EMBL-CDS:
AAG26325.1,
AAG48244.1,
AAG26327.1,
EAW95641.1,
AAH74834.1,
EAW95640.1,
AAH74883.1
Ensembl_TRS:
ENST00000332272,
ENST00000649824,
ENST00000390664,
ENST00000649341
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000375079,
ENSP00000328983,
ENSP00000497635,
ENSP00000496806
RefSeq:
NP_067628.1,
XP_011521387.1,
XP_005256012.1
|
| Others |
UniRef100:
UniRef100_Q9GZX3
UniRef90:
UniRef90_Q9GZX3
UniRef50:
UniRef50_Q9GZX3
UniGene:
Hs.655622
CCDS:
CCDS10918.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员