SNURF - SNRPN upstream reading frame-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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8926 SNURF

基因描述

Type	Description
Definition	SNRPN upstream reading frame

研究结论

Date	Results	Publications
2017-10-14 13:04:00	A de novo 6.4 kb deletion at 15q11.2, containing exon 1 of the SNURF gene and exon 1 of the shortest isoform of the SNRPN gene was identified in a patient with Prader-Willi-like phenotype. DNA methylation analysis confirmed the paternal origin of the deletion.	28554868
2012-10-06 11:35:00	significant IGF2 hypermethylation (20 +/- 10 vs. 14 +/- 7%; p<0.05) and SNURF hypomethylation (23 +/- 6 vs. 32 6%; p<0.001) was found in Albright's hereditary osteodystrophy patients vs. controls.	22679513
2011-06-18 11:32:00	Differences between genetic subtypes were also statistically significant in Prader Willi syndrome	21227640
2010-01-21 00:00:00	Identification of cis- and trans-acting regulatory elements within the endogenous SNURF-SNRPN locus.	16116039
2010-01-21 00:00:00	The SNURF-SNRPN sense/UBE3A antisense transcription unit spans more than 460 kb.	11726556

名称对应

Type	IDs
Gene	UniProtKB-ID: SNURF_HUMAN, RSMN_HUMAN, A0A024R0T6_HUMAN UniprotKB: Q9Y675, P63162, A0A024R0T6 UniParc: UPI000006FC5E, UPI000002948A, UPI00005A7B58 EMBL: BC024777, AC090602, CR450350, U41303, BC003180, AC090983, J04615, X15892, AC124312, AK123119, AF400432, CH471151, BC025178, BC000611, AF101044 Ensembl: ENSG00000128739, ENSG00000273173 KO: hsa:8926, hsa:6638
Nucleutide sequences	EMBL-CDS: AAD31391.1, EAW57625.1, AAH03180.1, CAA33901.1, AAA36617.1, CAG29346.1, AAK92481.1, BAG53873.1, AAH24777.1, AAA98969.1, AAH00611.1, AAH25178.1, EAW57626.1, EAW57627.1 Gene_ORFName: hCG_2042738 Ensembl_TRS: ENST00000338327, ENST00000577949, ENST00000580062, ENST00000645002, ENST00000642807, ENST00000346403, ENST00000400100, ENST00000577565, ENST00000390687, ENST00000554227, ENST00000400097
Protein sequencees	Ensembl_PRO: ENSP00000463201, ENSP00000463396, ENSP00000342152, ENSP00000463458, ENSP00000494831, ENSP00000375105, ENSP00000306223, ENSP00000495345, ENSP00000452342, ENSP00000382969, ENSP00000382972 RefSeq: NP_073715.1, NP_005669.2
Others	UniRef100: UniRef100_P63162, UniRef100_Q9Y675 UniRef90: UniRef90_P63162, UniRef90_Q9WU12 UniRef50: UniRef50_Q9WU12, UniRef50_P63162 UniGene: Hs.564847 CCDS: CCDS10016.1, CCDS10017.1

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mRNA

Protein

UniprotKB

Description

Refseq

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Pubmed编号	文献信息	发表日期	相关基因
29513927	Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Proteomics James E Tomkins , Sybille Dihanich , Alexandra Beilina , Raffaele Ferrari , NicolÃ² Ilacqua , Mark R Cookson , Patrick A Lewis , Claudia Manzoni	2018-05-01	-
28554868	A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype. Eur J Med Genet Yang Cao , Susan S AlHumaidi , Eissa A Faqeih , Beth A Pitel , Patrick Lundquist , Umut Aypar	2017-08-01	-
27659713	Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects. Eur J Med Genet Maaz Hassan , Merlin G Butler	2016-11-01	-
26725010	KAP1 Recruitment of the 7SK snRNP Complex to Promoters Enables Transcription Elongation by RNA Polymerase II. Mol. Cell Ryan P McNamara , Jonathan E Reeder , Elizabeth A McMillan , Curtis W Bacon , Jennifer L McCann , IvÃ¡n D'Orso	2016-01-07	-
24311433	Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype. Am J Med Genet A Britt-Marie Anderlid , Johanna Lundin , Helena Malmgren , Mikael Lehtihet , Ann Nordgren	2014-02-01	-
23602568	The protein interaction landscape of the human CMGC kinase group. Cell Rep Markku Varjosalo , Salla Keskitalo , Audrey Van Drogen , Helka Nurkkala , Anton Vichalkovski , Ruedi Aebersold , Matthias Gstaiger	2013-04-25	MED6, PDCD6IP, FRAT1, TROAP, MED16, RWDD2B, HUWE1, EDIL3, ARPC1B, HIPK3, FRY, AKAP9, SUGP2, RASA4, CDK2, RBM7, CDK3, CDK4, PSME3, CDK5, FLOT1, DDX39A, CDK6, CDK7, HNRNPR, DCAF7, CDK8, SRRM1, CDK9, SF3B4, CDKN1A, AKAP8, CDKN1B, STUB1, CDKN1C, CDKN2A, PAK4, CDKN2B, ZNF267, CDKN2C, CDKN2D, NPM2, CACNG2, RBM14, HAX1, BAIAP2, PFDN6, EIF3M, SEC23B, ENOX2, MYBBP1A, CHERP, NOP56, UBD, MAB21L2, DRAP1, PRPF8, CDC42EP3, USP39, PTGES3, YME1L1, NUP50, HBS1L, AHCYL1, ZMYND11, ZNF460, CPSF4, TRAFD1, MAGED2, RNPS1, SUB1, SRSF8, AFG3L2, MSL3, STIP1, EBNA1BP2, SNRNP27, STON1, NUDT21, CPSF6, CHD2, SNRNP35, DIDO1, WDR5, KRR1, FOXN3, CLASRP, KPTN, WDR6, SUPT16H, CHEK2, AKAP11, EGLN2, MED8, GLCCI1, GABARAP, U2AF2, CHUK, EVI5L
22511895	Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain. Mol Syndromol S Naik , N S Thomas , J H Davies , M Lever , M Raponi , D Baralle , I K Temple , A Caliebe	2012-01-01	-
22679513	Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction. PLoS One Benedetta Izzi , Inge Francois , Veerle Labarque , Chantal Thys , Christine Wittevrongel , Koen Devriendt , Eric Legius , Annick Van den Bruel , Marc D'Hooghe , Diether Lambrechts , Francis de Zegher , Chris Van Geet , Kathleen Freson	2012-01-01	-
21832049	Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. J Biol Chem Judit OlÃ¡h , Orsolya Vincze , DezsÃµ VirÃ³k , DÃ³ra Simon , Zsolt BozsÃ³ , NatÃ¡lia TÃµkÃ©si , IstvÃ¡n HorvÃ¡th , Emma Hlavanda , JÃ¡nos KovÃ¡cs , Anna Magyar , MÃ¡ria SzÅ©cs , Ferenc Orosz , Botond Penke , Judit OvÃ¡di	2011-09-30	-
21873635	Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas	2011-09-01	-

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