DONSON - downstream neighbor of SON-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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29980 DONSON

基因描述

Type	Description
Definition	downstream neighbor of SON

研究结论

Date	Results	Publications
2021-02-27 13:52:00	Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.	31784481
2021-02-13 13:26:00	Circ-DONSON promotes malignant progression of glioma through modulating FOXO3.	32016978
2020-09-26 13:09:00	DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain.	32769987
2020-08-12 13:42:00	four unrelated families with five affected individuals having biallelic or de novo variants in DONSON presenting with a core phenotype of severe short stature (z score < -3 SD), additional skeletal abnormalities, and microcephaly, were identified.	31407851
2020-07-18 11:39:00	we present the clinical data of siblings with microcephaly, short stature, and limb abnormalities syndrome (MISSLA) featuring a novel DONSON variant and summarize the current literature on MISSLA.	31320746

名称对应

Type	IDs
Synonymous	B17, C21orf60, MIMIS, MISSLA
Gene	UniProtKB-ID: DONS_HUMAN UniprotKB: Q9NYP3 UniParc: UPI000002A835, UPI00001296AD, UPI000002A836 EMBL: AF232675, AK074964, AF232673, BC048266, AL157441, AF232674 Ensembl: ENSG00000159147 KO: hsa:29980
Nucleutide sequences	EMBL-CDS: AAF72948.1, AAH48266.1, BAC11320.1, AAF72947.1, CAB75661.1, AAF72949.1 Ensembl_TRS: ENST00000303071
Protein sequencees	Ensembl_PRO: ENSP00000307143 RefSeq: NP_060083.1
Others	UniRef100: UniRef100_Q9NYP3 UniRef90: UniRef90_Q9NYP3 UniRef50: UniRef50_Q9NYP3 UniGene: Hs.436341 CCDS: CCDS13632.1

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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
32769987	DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain. Nat Commun Jing Zhang , Marina A Bellani , Ryan C James , Durga Pokharel , Yongqing Zhang , John J Reynolds , Gavin S McNee , Andrew P Jackson , Grant S Stewart , Michael M Seidman	2020-08-07	-
31975570	Replisome genes regulation by antitumor miR-101-5p in clear cell renal cell carcinoma. Cancer Sci. Yasutaka Yamada , Nijiro Nohata , Akifumi Uchida , Mayuko Kato , Takayuki Arai , Shogo Moriya , Keiko Mizuno , Satoko Kojima , Kazuto Yamazaki , Yukio Naya , Tomohiko Ichikawa , Naohiko Seki	2020-04-01	-
31784481	Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. J Med Genet Karen M Knapp , Rosie Sullivan , Jennie Murray , Gregory Gimenez , Pamela Arn , Precilla D'Souza , Alper Gezdirici , William G Wilson , Andrew P Jackson , Carlos Ferreira , Louise S Bicknell	2020-03-01	-
32016978	Circ-DONSON promotes malignant progression of glioma through modulating FOXO3. Eur Rev Med Pharmacol Sci Z Zou , Y-S Dong , J-M Liu , Z-H Zhao , G Li , D-D Liu	2020-01-01	-
31320746	Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings. Eur J Hum Genet Magdalena Danyel , Zhuo Cheng , Christine Jung , Felix Boschann , Jean Tori Pantel , Nurulhuda Hajjir , Ricarda FlÃ¶ttmann , Solveig Schulz , Ilja Demuth , Eamonn Sheridan , Stefan Mundlos , Denise Horn , Martin A Mensah	2019-12-01	-
31407851	Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. Am J Med Genet A Ender Karaca , Jennifer E Posey , Bret Bostwick , Pengfei Liu , Alper Gezdirici , Gozde Yesil , Zeynep Coban Akdemir , Yavuz Bayram , Frederike L Harms , Peter Meinecke , Malik Alawi , Carlos A Bacino , V Reid Sutton , Fanny KortÃ¼m , James R Lupski	2019-10-01	-
30033366	Mapping the Genetic Landscape of Human Cells. Cell Max A Horlbeck , Albert Xu , Min Wang , Neal K Bennett , Chong Y Park , Derek Bogdanoff , Britt Adamson , Eric D Chow , Martin Kampmann , Tim R Peterson , Ken Nakamura , Michael A Fischbach , Jonathan S Weissman , Luke A Gilbert	2018-08-09	-
28630177	Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. Genome Res. Gilad D Evrony , Dwight R Cordero , Jun Shen , Jennifer N Partlow , Timothy W Yu , Rachel E Rodin , R Sean Hill , Michael E Coulter , Anh-Thu N Lam , Divya Jayaraman , Dianne Gerrelli , Diana G Diaz , Chloe Santos , Victoria Morrison , Antonella Galli , Ulrich Tschulena , Stefan Wiemann , M Jocelyne Martel , Betty Spooner , Steven C Ryu , Princess C Elhosary , Jillian M Richardson , Danielle Tierney , Christopher A Robinson , Rajni Chibbar , Dana Diudea , Rebecca Folkerth , Sheldon Wiebe , A James Barkovich , Ganeshwaran H Mochida , James Irvine , Edmond G Lemire , Patricia Blakley , Christopher A Walsh	2017-08-01	-
28191891	Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nat. Genet. John J Reynolds , Louise S Bicknell , Paula Carroll , Martin R Higgs , Ranad Shaheen , Jennie E Murray , Dimitrios K Papadopoulos , Andrea Leitch , Olga Murina , Å½ygimantÄ TarnauskaitÄ , Sarah R Wessel , Anastasia Zlatanou , Audrey Vernet , Alex von Kriegsheim , Rachel M A Mottram , Clare V Logan , Hannah Bye , Yun Li , Alexander Brean , Sateesh Maddirevula , Rachel C Challis , Kassiani Skouloudaki , Agaadir Almoisheer , Hessa S Alsaif , Ariella Amar , Natalie J Prescott , Michael B Bober , Angela Duker , Eissa Faqeih , Mohammed Zain Seidahmed , Saeed Al Tala , Abdulrahman Alswaid , Saleem Ahmed , Jumana Yousuf Al-Aama , Janine AltmÃ¼ller , Mohammed Al Balwi , Angela F Brady , Luciana Chessa , Helen Cox , Rita Fischetto , Raoul Heller , Bertram D Henderson , Emma Hobson , Peter NÃ¼rnberg , E Ferda Percin , Angela Peron , Luigina Spaccini , Alan J Quigley , Seema Thakur , Carol A Wise , Grace Yoon , Maha Alnemer , Pavel Tomancak , GÃ¶khan Yigit , A Malcolm R Taylor , Martin A M Reijns , Michael A Simpson , David Cortez , Fowzan S Alkuraya , Christopher G Mathew , Andrew P Jackson , Grant S Stewart	2017-04-01	-
26496610	A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Cell Marco Y Hein , Nina C Hubner , Ina Poser , JÃ¼rgen Cox , Nagarjuna Nagaraj , Yusuke Toyoda , Igor A Gak , Ina Weisswange , JÃ¶rg Mansfeld , Frank Buchholz , Anthony A Hyman , Matthias Mann	2015-10-22	Cep85l, Rcc1, Zbtb48, Bsdc1, Kifc1, Ccp110, Ints4, Slc6a8, Cenpi, Nup107, Xpo1, Fbxw11, Tubg1, Csnk1d, Bap1, Ptpn23, Tecpr2, Slain1, Ankrd28, Prkaa1, Espl1, Gbf1, Cdc20, Cenpf, Trip11, Mbd5, Kif22, Dut, Srsf1, Actb, Spred2, Akt2, Mta1, Tgs1, Pip4k2c, Ankfy1, Apc, Ar, Rhoa, Atp2a2, Atp5a1, Atp7a, Cep131, Bach1, Bcl7c, Bmpr1a, Brca1, Bub1, Bub1b, C1qbp, Anxa2, Calu, Cbx1, Cbx4, Cct2, Cct3, Cct4, Cct7, Cct8, Cd2ap, Cdk1, Cdc37, Cdh1, Chek1, Cit, Copa, Crebbp, Cry1, Csk, Smc3, Dctn1, Ddb1, Cdk2ap1, Mapre1, Ect2, Eef1a1, Eif3a, Mark2, Evpl, Ewsr1, Wdr5, Dclre1b, Fbl, Fgfr1, Flot1, Flot2, B4galt1, Gnb1, Gspt1, Hdac6, Herc2, Hsf1, Hsph1, Elavl1, Id2, Cyr61, Cep250, Insr, Eif3e

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