VPS13B - vacuolar protein sorting 13 homolog B-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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157680 VPS13B

基因描述

Type	Description
Definition	vacuolar protein sorting 13 homolog B

研究结论

Date	Results	Publications
2021-04-03 13:35:00	An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.	32505691
2021-04-03 13:32:00	Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.	32915983
2021-02-13 13:21:00	Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene.	31580008
2021-01-09 13:26:00	A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.	31825161
2020-10-10 12:59:00	Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome.	31444703

名称对应

Type	IDs
Synonymous	CHS1, COH1
Gene	UniProtKB-ID: VP13B_HUMAN UniprotKB: Q7Z7G8 UniParc: UPI00001D2D35, UPI00001D2D31, UPI00001D2D30, UPI00001D2D32, UPI00002103A0, UPI0001E24F4F EMBL: AC105195, AC107909, AY223817, AY223814, AC026827, AP004289, AJ608772, AC105328, AK091431, AJ608773, AP004290, AB011104, AK000590, AY223815, AY223816, AC104986, AC018442, AY223818, AC023933 Ensembl: ENSG00000132549 KO: hsa:157680
Nucleutide sequences	EMBL-CDS: BAA25458.1, CAE75584.1, AAP41102.1, AAP41106.1, CAE75585.1, BAA91275.1, AAP41104.1, AAP41105.1, BAC03664.1, AAP41103.1 Ensembl_TRS: ENST00000441350, ENST00000358544, ENST00000357162, ENST00000355155, ENST00000496144
Protein sequencees	Ensembl_PRO: ENSP00000347281, ENSP00000430900, ENSP00000398472, ENSP00000349685, ENSP00000351346 RefSeq: NP_858047.2, NP_689777.3, NP_056058.2, NP_060360.3
Others	UniRef100: UniRef100_Q7Z7G8 UniRef90: UniRef90_Q7Z7G8 UniRef50: UniRef50_Q7Z7G8 UniGene: Hs.191540 CCDS: CCDS6280.1, CCDS47903.1, CCDS6283.1, CCDS6281.1

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mRNA

Protein

UniprotKB

Description

Refseq

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全选

Pubmed编号	文献信息	发表日期	相关基因
32505691	An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome. Eur J Med Genet Felix Boschann , BjÃ¶rn Fischer-Zirnsak , Thomas F Wienker , Manuel Holtgrewe , Dominik Seelow , Birgit Eichhorn , Steffi DÃ¶hnert , Raimund Fahsold , Denise Horn , Luitgard M Graul-Neumann	2020-09-01	-
32915983	Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors. Invest Ophthalmol Vis Sci Vincent Lhussiez , Elisabeth Dubus , QuÃ©nol Cesar , Niyazi Acar , Emeline F Nandrot , Manuel Simonutti , Isabelle Audo , ElÃ©onore LizÃ© , Sylvie Nguyen , Audrey Geissler , AndrÃ© Bouchot , Muhammad Ansar , Serge Picaud , Christel Thauvin-Robinet , Laurence Olivier-Faivre , Laurence Duplomb , Romain Da Costa	2020-09-01	-
32877691	A High-Density Human Mitochondrial Proximity Interaction Network. Cell Metab Hana Antonicka , Zhen-Yuan Lin , Alexandre Janer , Mari J Aaltonen , Woranontee Weraarpachai , Anne-Claude Gingras , Eric A Shoubridge	2020-09-01	-
31580008	Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene. Acta Ophthalmol Fadi Nasser , Anne Kurtenbach , Saskia Biskup , Sabine Weidensee , Susanne Kohl , Eberhart Zrenner	2020-05-01	-
31825161	A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome. Am J Med Genet A Katrin Koehler , Markus Schuelke , Anna K Hell , Michael Schittkowski , Angela Huebner , Knut Brockmann	2020-03-01	-
30602132	CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability. Eur J Med Genet Yumi Enomoto , Yoshinori Tsurusaki , Takayuki Yokoi , Chihiro Abe-Hatano , Kazumi Ida , Takuya Naruto , Jun Mitsui , Shoji Tsuji , Shinichi Morishita , Kenji Kurosawa	2020-01-01	-
31444703	Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome. J Mol Neurosci Nasrin Alipour , Shadab Salehpour , Seyed Hasan Tonekaboni , Masoumeh Rostami , Soraya Bahari , Vahidreza Yassaee , Mohammad Miryounesi , Soudeh Ghafouri-Fard	2020-01-01	-
31752730	Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms. BMC Med. Genet. Sha Zhao , Zhenqing Luo , Zhenghui Xiao , Liping Li , Rui Zhao , Yongjia Yang , Yan Zhong	2019-11-21	-
30639242	The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. Mol. Cell Joanna R Kovalski , Aparna Bhaduri , Ashley M Zehnder , Poornima H Neela , Yonglu Che , Glenn G Wozniak , Paul A Khavari	2019-02-21	-
30021884	Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Mol Cell Proteomics Domenico Fasci , Hugo van Ingen , Richard A Scheltema , Albert J R Heck	2018-10-01	-

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