| Type | Description |
|---|---|
| Definition | neuroblastoma amplified sequence |
| Date | Results | Publications |
|---|---|---|
| 2021-03-06 13:31:00 | Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure. | 33542026 |
| 2021-01-09 13:26:00 | Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review. | 32146038 |
| 2020-04-04 11:16:00 | Data report two unrelated subjects with a trait associated with defective NBAS function sharing a previously unreported pathogenic "synonymous" change demonstrated to affect proper NBAS transcript processing. Assessing the clinical features and signs of affected subjects with biallelic NBAS variants documents the occurrence of a recognizable facial profile for these patients. | 30825388 |
| 2019-07-27 11:02:00 | A novel homozygous truncating mutation in the NBAS gene was identified in a family with Acrofrontofacionasal Dysostosis type 1. | 29929043 |
| 2018-04-21 11:37:00 | NBAS was the only candidate gene mutated in more than one patient. All NBAS mutations were novel and predictedly pathogenic. Of these mutations, 3 lay in distal (C-terminal) regions of NBAS, a novel distribution. Unlike the 2 patients without NBAS mutations, the 3 patients with confirmed NBAS mutations all suffered from a febrile illness before each episode of liver crisis (fever-related recurrent acute liver failure) | 28629372 |
| Type | IDs |
|---|---|
| Synonymous | ILFS2, NAG, SOPH |
| Gene |
UniProtKB-ID:
NBAS_HUMAN,
G1UI26_HUMAN
UniprotKB:
A2RRP1,
G1UI26
UniParc:
UPI000222EEA5,
UPI00001AEA68,
UPI000192C299
EMBL:
BC051792,
AC008282,
BC108693,
AF388385,
AF056195,
AC008278,
AB621813,
BC131735,
AL050281,
AC074184,
AC007738
Ensembl:
ENSG00000151779
KO:
hsa:51594
|
| Nucleutide sequences |
EMBL-CDS:
AAY24347.1,
AAD18133.1,
AAH51792.2,
AAI08694.1,
AAM93544.1,
AAI31736.1,
CAB43382.1,
BAK64149.1
Ensembl_TRS:
ENST00000281513
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000281513
RefSeq:
XP_011508659.1,
XP_011508662.1,
XP_011508663.1,
XP_011508660.1,
XP_016859806.1,
XP_024308729.1,
NP_056993.2
|
| Others |
UniRef100:
UniRef100_G1UI26,
UniRef100_A2RRP1
UniRef90:
UniRef90_A2RRP1,
UniRef90_G1UI26
UniRef50:
UniRef50_A0A091NHN6,
UniRef50_A2RRP1
UniGene:
Hs.467759
CCDS:
CCDS1685.1
|
| {{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