| Type | Description |
|---|---|
| Definition | ASXL transcriptional regulator 3 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-20 13:35:00 | Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease. | 32696347 |
| 2021-01-02 12:50:00 | Mosaicism in ASXL3-related syndrome: Description of five patients from three families. | 32240826 |
| 2019-04-27 11:01:00 | Truncating de novo mutations in ASXL3 cause Bainbridge-Ropers syndrome (BRPS), a developmental disorder with similarities to Bohring-Opitz syndrome. to our knowledge, this is the first report of the disorder in two related individuals. Our findings lend further support to intellectual disability, absent speech, autistic traits, hypotonia, and distinctive facial appearance as common emerging features of Bainbridge-Ropers f | 29305346 |
| 2019-03-02 11:52:00 | Somatic mutations in AZXL3 were associated with sporadic parathyroid adenomas in a Chinese population. | 29982334 |
| 2018-04-07 11:40:00 | A second mutation cluster region within ASXL3 in older patients with Bainbridge-Ropers syndrome expands the phenotypic spectrum of the disorder and highlights its high frequency. | 28100473 |
| Type | IDs |
|---|---|
| Synonymous | BRPS, KIAA1713 |
| Gene |
UniProtKB-ID:
ASXL3_HUMAN
UniprotKB:
Q9C0F0
UniParc:
UPI0002507A88,
UPI000156D0F3
EMBL:
AB051500,
AK131454,
AC090989,
AL133050,
AK056450,
AC010798,
AC023192
Ensembl:
ENSG00000141431
KO:
hsa:80816
|
| Nucleutide sequences |
EMBL-CDS:
BAB21804.2,
CAB61377.1,
BAD18599.1,
BAB71186.1
Ensembl_TRS:
ENST00000269197
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000269197
RefSeq:
XP_011524507.1,
XP_016881501.1,
XP_011524515.1,
XP_016881502.1,
XP_005258413.1,
XP_016881503.1,
XP_011524508.1,
XP_011524511.1,
NP_085135.1,
XP_011524514.1,
XP_024307037.1
|
| Others |
UniRef100:
UniRef100_Q9C0F0
UniRef90:
UniRef90_Q9C0F0
UniRef50:
UniRef50_Q9C0F0
UniGene:
Hs.464876
CCDS:
CCDS45847.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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