Type | Description |
---|---|
Definition | mediator complex subunit 13 like |
Date | Results | Publications |
---|---|---|
2019-09-28 10:27:00 | Study ascertains missense variations in MED13L as a cause for MED13L-related intellectual disability and improves the clinical delineation of the condition. | 29511999 |
2018-06-23 10:49:00 | Our findings suggest that MED13L-related disorders are a possible differential diagnosis for syndromic PRS. | 29159987 |
2017-12-09 11:44:00 | MED13L truncating mutation and missense mutation were identified in two patients with facial resemblance to Kleefstra syndrome as a novel differential diagnosis. | 28645799 |
2017-10-28 10:52:00 | A new syndrome caused by MED13L deleterious variants has been described, which shows similar clinical manifestations including intellectual disability, hypotonia, and other congenital anomalies. In two new cases, one missense variant and one nonsense mutation were found in the MED13L gene. | 27500536 |
2017-05-13 19:31:00 | Two siblings exhibited an intragenic deletion involving exons 3-14, which led to an in-frame deletion in MED13L. The deletion was inherited from their carrier mother who possessed low frequency mosaicism. The older sister of the siblings showed craniosynostosis; this condition has never been reported in patients with MED13L haploinsufficiency syndrome | 28371282 |
Type | IDs |
---|---|
Synonymous | MRFACD, PROSIT240, THRAP2, TRAP240L |
Gene |
UniProtKB-ID:
MD13L_HUMAN,
A0A3B3IRX3_HUMAN
UniprotKB:
Q71F56,
A0A3B3IRX3
UniParc:
UPI0000E00C71,
UPI0000241C1E
EMBL:
AC130895,
AY338463,
AL133033,
BC130422,
AL137644,
AC026334,
AB028948,
CR749332,
AC012157,
AC060226,
AC009321,
AF515599,
AK023837
Ensembl:
ENSG00000123066
KO:
hsa:23389
|
Nucleutide sequences |
EMBL-CDS:
CAB61363.1,
AAI30423.1,
AAQ08182.1,
AAR08418.1,
CAB70855.1,
BAB14697.1,
CAH18186.1,
BAA82977.2
Ensembl_TRS:
ENST00000281928,
ENST00000650226
|
Protein sequencees |
Ensembl_PRO:
ENSP00000281928,
ENSP00000496981
RefSeq:
XP_011536383.1,
XP_011536382.1,
NP_056150.1,
XP_011536384.1,
XP_016874579.1
|
Others |
UniRef100:
UniRef100_A0A3B3IRX3,
UniRef100_Q71F56
UniRef90:
UniRef90_Q71F56
UniRef50:
UniRef50_Q71F56
UniGene:
Hs.603766,
Hs.715095
CCDS:
CCDS9177.1
|
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Refseq |
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