| Type | Description |
|---|---|
| Definition | zinc finger SWIM-type containing 6 |
| Date | Results | Publications |
|---|---|---|
| 2018-01-06 10:52:00 | This study builds support for a key role for ZSWIM6 in neuronal development and function, in addition to its putative roles in limb and craniofacial development, and provides a striking example of different variants in the same gene leading to distinct phenotypes. | 29198722 |
| 2017-07-01 11:47:00 | A single recurrent heterozygous missense substitution in ZSWIM6, encoding a protein of unknown function, was previously shown to underlie this disorder in four unrelated cases. Here we describe four additional individuals from three families, comprising two sporadic subjects (one of whom had no limb malformation) and a mildly affected female with a severely affected son | 26706854 |
| 2014-10-18 11:34:00 | Exome sequencing of one trio and two unrelated probands revealed the same heterozygous variant (c.3487C>T [p. Arg1163Trp])associated with acromelic frontonasal dysostosis in a highly conserved protein domain of ZSWIM6; this variant has not been seen in the 1000 Genomes data, dbSNP, or the Exome Sequencing Project | 25105228 |
| Type | IDs |
|---|---|
| Synonymous | AFND, NEDMAGA |
| Gene |
UniProtKB-ID:
ZSWM6_HUMAN
UniprotKB:
Q9HCJ5
UniParc:
UPI0001837EA2
EMBL:
AB046797,
AC122718,
AC008836
Ensembl:
ENSG00000130449
KO:
hsa:57688
|
| Nucleutide sequences |
EMBL-CDS:
BAB13403.1
Ensembl_TRS:
ENST00000252744
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000252744
RefSeq:
XP_024301908.1,
NP_065979.1,
XP_016865166.1,
XP_024301907.1
|
| Others |
UniRef100:
UniRef100_Q9HCJ5
UniRef90:
UniRef90_Q80TB7
UniRef50:
UniRef50_Q80TB7
UniGene:
Hs.744939
CCDS:
CCDS47215.1
|
| {{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