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57688 ZSWIM6

57688

ZSWIM6

zinc finger SWIM-type containing 6

protein-coding

Homo sapiens

基因描述

Type Description
Definition zinc finger SWIM-type containing 6

研究结论

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

名称对应

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

全选

研究热度
发表文献
热点单位
排名 科研单位 文献
1

Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.

2
2

University of California

2
3

University of Toronto

2
4

Biogen Inc., 250 Binney Street, Cambridge, Massachusetts 02142, USA.

1
5

Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA.

1
热点人员
排名 研究人员 文献
1

J Wade Harper

3
2

Joao A Paulo

2
3

Arno F Alpi

2
4

Brenda A Schulman

2
5

David Y Rhee

2
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