 RNA Splice Sites
"RNA Splice Sites" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Nucleotide sequences located at the ends of EXONS and recognized in pre-messenger RNA by SPLICEOSOMES. They are joined during the RNA SPLICING reaction, forming the junctions between exons.
| Descriptor ID |
D022821
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| MeSH Number(s) |
D13.444.735.544.550 G02.111.570.080.689.687.490 G05.360.080.689.687.490 G05.360.340.024.340.137.800
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| Concept/Terms |
Cryptic Splice Sites- Cryptic Splice Sites
- Cryptic Splice Site
- Splice Site, Cryptic
- Splice Sites, Cryptic
Splice Donor Site- Splice Donor Site
- Donor Site, Splice
- Donor Sites, Splice
- Splice Donor Sites
- 5' Splice Site
- 5' Splice Sites
- Splice Site, 5'
- Splice Sites, 5'
Alternative Splice Sites- Alternative Splice Sites
- Alternative Splice Site
- Splice Site, Alternative
- Splice Sites, Alternative
Splice Acceptor Site- Splice Acceptor Site
- Acceptor Site, Splice
- Acceptor Sites, Splice
- Splice Acceptor Sites
- 3' Splice Site
- 3' Splice Sites
- Splice Site, 3'
- Splice Sites, 3'
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Below are MeSH descriptors whose meaning is more general than "RNA Splice Sites".
Below are MeSH descriptors whose meaning is more specific than "RNA Splice Sites".
This graph shows the total number of publications written about "RNA Splice Sites" by people in this website by year, and whether "RNA Splice Sites" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2005 | 0 | 1 | 1 | | 2006 | 1 | 1 | 2 | | 2007 | 1 | 0 | 1 | | 2008 | 1 | 1 | 2 | | 2009 | 2 | 0 | 2 | | 2010 | 0 | 1 | 1 | | 2011 | 0 | 2 | 2 | | 2012 | 0 | 2 | 2 | | 2013 | 1 | 1 | 2 | | 2014 | 0 | 2 | 2 | | 2015 | 0 | 2 | 2 | | 2017 | 1 | 0 | 1 | | 2018 | 1 | 0 | 1 | | 2019 | 0 | 1 | 1 | | 2020 | 0 | 1 | 1 |
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Below are the most recent publications written about "RNA Splice Sites" by people in Profiles.
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Curtis M, Baribeau D, Walker S, Carter M, Costain G, Lamoureux S, Liston E, Marshall CR, Reuter MS, Snell M, Summers J, Vorstman J, Jobling RK. A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome. Am J Med Genet A. 2020 09; 182(9):2145-2151.
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Suzuki H, Kumar SA, Shuai S, Diaz-Navarro A, Gutierrez-Fernandez A, De Antonellis P, Cavalli FMG, Juraschka K, Farooq H, Shibahara I, Vladoiu MC, Zhang J, Abeysundara N, Przelicki D, Skowron P, Gauer N, Luu B, Daniels C, Wu X, Forget A, Momin A, Wang J, Dong W, Kim SK, Grajkowska WA, Jouvet A, Fèvre-Montange M, Garrè ML, Nageswara Rao AA, Giannini C, Kros JM, French PJ, Jabado N, Ng HK, Poon WS, Eberhart CG, Pollack IF, Olson JM, Weiss WA, Kumabe T, López-Aguilar E, Lach B, Massimino M, Van Meir EG, Rubin JB, Vibhakar R, Chambless LB, Kijima N, Klekner A, Bognár L, Chan JA, Faria CC, Ragoussis J, Pfister SM, Goldenberg A, Wechsler-Reya RJ, Bailey SD, Garzia L, Morrissy AS, Marra MA, Huang X, Malkin D, Ayrault O, Ramaswamy V, Puente XS, Calarco JA, Stein L, Taylor MD. Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma. Nature. 2019 10; 574(7780):707-711.
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Uddin M, Woodbury-Smith M, Chan AJS, Albanna A, Minassian B, Boelman C, Scherer SW. Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots. G3 (Bethesda). 2018 03 28; 8(4):1115-1118.
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Kemaladewi DU, Maino E, Hyatt E, Hou H, Ding M, Place KM, Zhu X, Bassi P, Baghestani Z, Deshwar AG, Merico D, Xiong HY, Frey BJ, Wilson MD, Ivakine EA, Cohn RD. Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism. Nat Med. 2017 Aug; 23(8):984-989.
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Loohuis LMO, Vorstman JAS, Ori AP, Staats KA, Wang T, Richards AL, Leonenko G, Walters JT, DeYoung J, Cantor RM, Ophoff RA. Genome-wide burden of deleterious coding variants increased in schizophrenia. Nat Commun. 2015 Jul 09; 6:7501.
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Nurden AT, Pillois X, Fiore M, Alessi MC, Bonduel M, Dreyfus M, Goudemand J, Gruel Y, Benabdallah-Guerida S, Latger-Cannard V, Négrier C, Nugent D, Oiron RD, Rand ML, Sié P, Trossaert M, Alberio L, Martins N, Sirvain-Trukniewicz P, Couloux A, Canault M, Fronthroth JP, Fretigny M, Nurden P, Heilig R, Vinciguerra C. Expanding the Mutation Spectrum Affecting aIIbß3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort. Hum Mutat. 2015 May; 36(5):548-61.
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Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, Vasli N, Rafiq MA, Brohi MQ, Mikhailov A, Ayaz M, Bhatti A, Sticht H, Nasr T, Carter MT, Uebe S, Reis A, Ayub M, John P, Kiledjian M, Vincent JB, Jamra RA. Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. Hum Mol Genet. 2015 Jun 01; 24(11):3172-80.
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Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ. RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 Jan 09; 347(6218):1254806.
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Burns R, Majczenko K, Xu J, Peng W, Yapici Z, Dowling JJ, Li JZ, Burmeister M. Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. Neurology. 2014 Dec 02; 83(23):2175-82.
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Daniels ML, Leigh MW, Davis SD, Armstrong MC, Carson JL, Hazucha M, Dell SD, Eriksson M, Collins FS, Knowles MR, Zariwala MA. Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. Hum Mutat. 2013 Oct; 34(10):1352-6.
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