例如:"NBL1", "4681", "drought"
收藏
23389 MED13L

23389

MED13L

mediator complex subunit 13 like

protein-coding

Homo sapiens

基因描述

Type Description
Definition mediator complex subunit 13 like

研究结论

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

名称对应

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

全选

{{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.positionStart}}..{{protein.positionEnd}} )

暂无数据

研究热度

热点单位
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

热点人员
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