| Type | Description |
|---|---|
| Definition | lysine acetyltransferase 6B |
| Date | Results | Publications |
|---|---|---|
| 2021-04-13 10:10:00 | Novel Approach of Mandibular Distraction to Avoid Tracheostomy in KAT6B-related Gene Disorders. | 33136874 |
| 2020-04-18 11:41:00 | A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome. | 30921092 |
| 2020-02-08 12:23:00 | The clinical and genetic characterization of these patients could contribute to the understanding of the KAT6B-related disorders. | 30569622 |
| 2020-01-25 13:58:00 | Data indicate that the acetyltransferase function of the catalytic histone acetyltransferase KAT6B (MORF) subunit is positively regulated by the DPF domain of MORF (MORFDPF). | 31624313 |
| 2019-01-12 12:11:00 | The present report highlights the pivotal role of clinical genetics in avoiding clear-cut genotype-phenotype categories in syndromic forms of intellectual disability. In addition, it further supports the evidence that a continuum exists within the clinical spectrum of KAT6B-associated disorders | 29226580 |
| Type | IDs |
|---|---|
| Synonymous | GTPTS, MORF, MOZ2, MYST4, ZC2HC6B, qkf, querkopf |
| Gene |
UniProtKB-ID:
KAT6B_HUMAN,
B2RWN8_HUMAN
UniprotKB:
Q8WYB5,
B2RWN8
UniParc:
UPI000013DEA0,
UPI0001747B69,
UPI000059D17D,
UPI00001F8F3F
EMBL:
AF113514,
AB002381,
BC048199,
BC150618,
BC014143,
AF119230,
BC021128,
AF217500,
AF119231
Ensembl:
ENSG00000156650,
ENSG00000281813
KO:
hsa:23522
|
| Nucleutide sequences |
EMBL-CDS:
AAL56647.1,
AAF00100.1,
AAF00099.1,
AAH48199.1,
AAH21128.1,
AAH14143.1,
BAA20837.2,
AAF00095.1,
AAI50619.1
Ensembl_TRS:
ENST00000648892,
ENST00000649006,
ENST00000649574,
ENST00000372711,
ENST00000649463,
ENST00000629879,
ENST00000628523,
ENST00000372725,
ENST00000372714,
ENST00000647630,
ENST00000628038,
ENST00000287239,
ENST00000629233,
ENST00000630001,
ENST00000648725,
ENST00000372724,
ENST00000650575,
ENST00000648605
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000497841,
ENSP00000497166,
ENSP00000485896,
ENSP00000361810,
ENSP00000487219,
ENSP00000486731,
ENSP00000497453,
ENSP00000497048,
ENSP00000287239,
ENSP00000361799,
ENSP00000486595,
ENSP00000497352,
ENSP00000497416,
ENSP00000498139,
ENSP00000361809,
ENSP00000497718,
ENSP00000361796,
ENSP00000487238
RefSeq:
XP_016871493.1,
NP_001357070.1,
NP_001357064.1,
XP_005269721.1,
NP_001357072.1,
NP_001357061.1,
NP_001357063.1,
NP_001357068.1,
NP_001357073.1,
NP_001357066.1,
NP_001357065.1,
NP_001243398.1,
NP_001357069.1,
NP_001357067.1,
NP_001357071.1,
NP_001357062.1,
NP_001243397.1,
XP_016871492.1,
NP_036462.2
|
| Others |
UniRef100:
UniRef100_B2RWN8,
UniRef100_Q8WYB5
UniRef90:
UniRef90_Q8WYB5,
UniRef90_B2RWN8
UniRef50:
UniRef50_Q8WYB5
UniGene:
Hs.35758,
Hs.599543,
Hs.740873
CCDS:
CCDS58084.1,
CCDS7345.1,
CCDS58085.1
|
| {{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