| Type | Description |
|---|---|
| Definition | roundabout guidance receptor 3 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-13 13:16:00 | Horizontal gaze palsy and progressive scoliosis-a tale of two siblings with ROBO3 mutation. | 32077773 |
| 2020-10-10 13:00:00 | Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review. | 32580277 |
| 2020-08-01 14:20:00 | HistoryA 13-year-old girl was born to consanguineous parents | 32421468 |
| 2020-03-14 10:46:00 | Two novel mutations in the ROBO3 gene were identified in two Jordanian families with six affected individuals. To our knowledge, this is the first molecular study of Horizontal gaze palsy and progressive scoliosis (HGPPS) in Jordan. | 30985235 |
| 2017-11-18 11:06:00 | In our case, we found a novel homozygous mutation p.R842* (c.2524C>T) causing a premature stop codon which is a disease-making mutation. | 27267957 |
| Type | IDs |
|---|---|
| Synonymous | HGPPS, HGPPS1, HGPS, RBIG1, RIG1 |
| Gene |
UniProtKB-ID:
ROBO3_HUMAN,
F5GWJ5_HUMAN
UniprotKB:
Q96MS0,
F5GWJ5
UniParc:
UPI000204AEF5,
UPI000035AA82,
UPI00003A9325
EMBL:
AP003501,
AY509035,
AK056544
Ensembl:
ENSG00000154134
KO:
hsa:64221
|
| Nucleutide sequences |
EMBL-CDS:
AAS91662.1,
BAB71212.1
Ensembl_TRS:
ENST00000397801,
ENST00000538940
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000380903,
ENSP00000441797
RefSeq:
NP_001357286.1,
NP_001357293.1,
NP_001357287.1,
XP_016873611.1,
NP_071765.2,
NP_001357288.1,
NP_001357290.1,
NP_001357285.1,
NP_001357295.1
|
| Others |
UniRef100:
UniRef100_F5GWJ5,
UniRef100_Q96MS0
UniRef90:
UniRef90_Q96MS0
UniRef50:
UniRef50_Q96MS0
UniGene:
Hs.435621
CCDS:
CCDS44755.1
|
| {{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