Synonymous SNPs provide evidence for selective constraint on human exonic splicing enhancers (Q28284630)

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English	Synonymous SNPs provide evidence for selective constraint on human exonic splicing enhancers	scientific article

Statements

instance of

scholarly article

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title

Synonymous SNPs provide evidence for selective constraint on human exonic splicing enhancers (English)

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author name string

David B Carlini

series ordinal

1

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Jordan E Genut

series ordinal

2

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language of work or name

English

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publication date

January 2006

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published in

Journal of Molecular Evolution

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volume

62

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issue

1

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page(s)

89-98

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cites work

Exon recognition in vertebrate splicing

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21 January 2018

Linking C5 deficiency to an exonic splicing enhancer mutation

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21 January 2018

In Vivo Recognition of a Vertebrate Mini-Exon as an Exon-Intron-Exon Unit

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21 January 2018

Sequence Divergence, Functional Constraint, and Selection in Protein Evolution

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

BRCA2 T2722R is a deleterious allele that causes exon skipping

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A 5' splice site-proximal enhancer binds SF1 and activates exon bridging of a microexon

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative pre-mRNA splicing and proteome expansion in metazoans

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple splicing defects in an intronic false exon

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative splicing: increasing diversity in the proteomic world

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sorting out the complexity of SR protein functions

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intronic sequences flanking alternatively spliced exons are conserved between human and mouse

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A question of size: the eukaryotic proteome and the problems in defining it.

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

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12 December 2020

based on heuristic

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Finishing the euchromatic sequence of the human genome

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Predictive identification of exonic splicing enhancers in human genes

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The effect of deleterious mutations on neutral molecular variation

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/16320116

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Towards a structural basis of human non-synonymous single nucleotide polymorphisms

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single nucleotide polymorphism-based validation of exonic splicing enhancers

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An exon splice enhancer mutation causes autosomal dominant GH deficiency

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Listening to silence and understanding nonsense: exonic mutations that affect splicing

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Regulation of Splice-Site Selection, and Its Role in Human Disease

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Large-scale proteomic analysis of the human spliceosome

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence information for the splicing of human pre-mRNA identified by support vector machine classification

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

How did alternative splicing evolve?

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Predicting deleterious amino acid substitutions

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A computational and experimental approach toward a priori identification of alternatively spliced exons

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanical devices of the spliceosome: motors, clocks, springs, and things

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variation in sequence and organization of splicing regulatory elements in vertebrate genes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Positive and negative selection on the human genome

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distribution and characterization of regulatory elements in the human genome

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16320116

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S00239-005-0055-X

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Dimensions Publication ID

1031391247

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PubMed publication ID

16320116

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