| Type | Description |
|---|---|
| Definition | ankyrin repeat domain 11 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-13 13:19:00 | Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome. | 32476269 |
| 2021-02-02 13:24:00 | KBG syndrome in two patients from Egypt. | 32222090 |
| 2021-01-16 15:57:00 | KBG syndrome: Common and uncommon clinical features based on 31 new patients. | 32124548 |
| 2020-11-21 13:35:00 | [Analysis of ANKRD11 gene variant in a family affected with KBG syndrome]. | 32820523 |
| 2019-08-24 12:35:00 | Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum. | 30642272 |
| Type | IDs |
|---|---|
| Synonymous | ANCO-1, ANCO1, LZ16, T13 |
| Gene |
UniProtKB-ID:
ANR11_HUMAN
UniprotKB:
Q6UB99
UniParc:
UPI00004569E1
EMBL:
BC069013,
AY533563,
AY373756,
AC137932
Ensembl:
ENSG00000167522
KO:
hsa:29123
|
| Nucleutide sequences |
EMBL-CDS:
AAS45544.1,
AAH69013.1,
AAR25661.1
Ensembl_TRS:
ENST00000301030,
ENST00000378330,
ENST00000642600
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000367581,
ENSP00000495226,
ENSP00000301030
RefSeq:
XP_016878672.1,
XP_011521356.1,
XP_016878675.1,
XP_024306012.1,
XP_016878673.1,
XP_011521359.1,
XP_016878671.1,
XP_011521353.1,
NP_001243111.1,
XP_011521355.1,
XP_016878674.1,
NP_037407.4,
XP_011521358.1,
XP_011521357.1,
XP_016878676.1,
NP_001243112.1,
XP_006721247.1
|
| Others |
UniRef100:
UniRef100_Q6UB99
UniRef90:
UniRef90_Q6UB99
UniRef50:
UniRef50_Q6UB99
UniGene:
Hs.335003,
Hs.740440
CCDS:
CCDS32513.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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}} - |
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