ライフサイエンスコーパス: first exon

1 (after excluding for peaks that overlap with first exons).

2 ine/threonine kinase activity encoded by its first exon.

3 f LAT has been mapped to a region within the first exon.

4 ain a premature termination codon within the first exon.

5 ested at predicting the TSS and the complete first exon.

6 s located 11.5 kb downstream from the PDE1B1 first exon.

7 ds, four of which are in the short alternate first exon.

8 -Cre-mediated excision of SRF's promoter and first exon.

9 1 risk haplotypes to the promoter region and first exon.

10 ri- and dimethylated H3K4 within the Gsalpha first exon.

11 ed in a region that includes 94 bases of the first exon.

12 promoter adjacent to the previously defined first exon.

13 iant transcript that includes an alternative first exon.

14 N-stimulated response element located in the first exon.

15 specific expression are contained within the first exon.

16 e exons upstream of the previously described first exon.

17 ed a splice variant of MTP with an alternate first exon.

18 ression and hypermethylation on CpG#5 of its first exon.

19 CD arise from a distinct novel promoter and first exon.

20 protein by the acquisition of an alternative first exon.

21 rmined by the amino acids encoded within the first exon.

22 modeling platforms that supply promoters and first exons.

23 erythroid genes show evidence of alternative first exons.

24 ripts, differing by the alternate use of the first exons.

25 mammalian genes containing multiple variable first exons.

26 rms have separate CpG islands spanning their first exons.

27 same gene by virtue of alternatively spliced first exons.

28 the locations of the experimentally verified first exons.

29 products by using alternative promoters and first exons.

30 MVPs were disproportionately located within first exons.

31 , as well as 3 changes in use of alternative first exons.

32 igate the function of genes with alternative first exons.

33 s lost the use of one of its two alternative first exons.

34 ids) and codified by two exons, although the first exon (1-72 amino acids) is sufficient for this pro

35 OXA is more conserved across taxa, while the first exon 10 in CvAOXB contains novel mutations surroun

36 omDb currently contains 36,407 promoters and first exons (19,170 from human, 15,953 from mouse and 12

37 ifferential splicing of 3 mutually exclusive first exons (1A, 1B, 1C) to the alternative 3' splice si

38 upstream, and region 2 is located within the first exon (1alpha) of the open reading frame of the RAS

39 Conversely, alternative first exons 1B and 1C always splice to the stronger firs

40 h increased transcription from the noncoding first exon 1C.

41 a variant GATA-1 transcript that includes a first exon (1E(B)), located approximately 3700 bp downst

42 roximately 42 bp upstream to another variant first exon, 1E(C).

43 r a GAGA factor in the promoter of alternate first exon 2 approaches conservative experiment-wise sig

44 bly lower levels than genes expressing small first exons (384 and 151 nt).

45 ases: 92.3% (24/26) of mutations were in the first exon, 46.2% (12/26) were recurrent mutations affec

46 Similar to RARbeta2, the first exon (59 bp) of RARbeta5 is RARbeta5 isoform speci

47 se identical fusion genes containing a large first exon (804 nt) are not expressed at appreciably low

48 rotein targeted to the chloroplast, that its first exon acts as a transit peptide, and that the small

49 st intron sequence located downstream of the first exon and 27 bp from the second exon, whereas the l

50 cription initiation, in that it targeted the first exon and a 696-bp sequence immediately downstream

51 ated as RNF217 in Genbank), which shares the first exon and a CpG island with STL but is transcribed

52 e is regenerated at the junction between the first exon and a small internal exon (mI); this splice s

53 (variable) and J (joining) sequences in its first exon and exists as a single-copy gene that is inva

54 ed two potential STAT-binding regions in the first exon and first intron of BCL6 that fell within reg

55 extending from the GGH promoter through the first exon and into intron 1 and showed that methylation

56 -3669 to -4 (relative to ATG), including the first exon and intron and part of the second exon.

57 kb alpha1T promoter fragment along with the first exon and intron express the transgene in a manner

58 The promoterless maize ubiquitin first exon and intron fragment can drive gusA expression

59 nstruct with the maize alcohol dehydrogenase first exon and intron had low activity, visible in histo

60 uence and intragenic sequence containing the first exon and intron.

61 distinct promoters that are separated by the first exon and intron.

62 to a 242-kb segment comprising the promoter, first exon and most of the first intron of the Sorcs1 ge

63 tion of two transcription start-sites in the first exon and multiple (five) poly(A) signals in the te

64 heart tissue, BAH/humbug preferably use the first exon and often the fourth exon of junctin while pr

65 In the present study we have identified its first exon and promoter region.

66 to identify the sequences of the non-coding first exon and promoter.

67 luded the complete CpG island containing the first exon and regulatory sequences from MBD1.

68 The first intron between the first exon and the exon with the translation start methi

69 containing the 5'-untranslated region of the first exon and the immediate upstream sequence that conf

70 s inactive, suggesting that sequences in the first exon and/or intron are required for detectable exp

71 xhibit shared features including alternative first exons and differential splice acceptors in exon 2.

72 and V3 transcripts have different noncoding first exons and distinct insertion/deletion patterns in

73 The MGST1 gene has two alternative first exons and is located in the 12p13.1-13.2 region.

74 pts of utrophin, Up71 and Up140, with unique first exons and promoters located in intron 62 and intro

75 The gene has two alternative first exons and two promoters.

76 a rho- deletion genome in which the 5'-UTR, first exon, and first intron of COX1 are fused to the fo

77 exonic sequence is very low, except for the first exon, and no conserved open reading frame is prese

78 ng 2182 bp of the 5'-flanking sequences, the first exon, and the first intron activated expression in

79 5' untranslated regions, the presence of the first exon, and three missing codons at the start of the

80 3' terminal exons, (ii) genes with multiple first exons, and (iii) genes with very large introns, of

81 ANK3 has multiple alternative first exons, and a bipolar disorder-associated ANK3 vari

82 tandem-repeated sequences, exons other than first exons, and non-annotated single-copy sequences tha

83 The first exons appear more prone to the mutagenic effects,

84 quences within this promoter and alternative first exon are highly conserved between mouse and human

85 The G(S)alpha promoter and first exon are not methylated on either allele.

86 In all these cases, multiple variable first exons are each spliced to a common set of downstre

87 ings indicate that alternative promoters and first exons are more widespread in the human genome than

88 The majority of the candidate first exons are situated upstream of the coding exons, w

89 ing genes, with skipped exon and alternative first exon being the most frequently utilised.

90 tion of a transgene with an insertion in the first exon but does not affect induction of a similar tr

91 tional start site variants that use distinct first exons but share common subsequent exons.

92 The canonical first exon, by contrast, seems to be of negligible trans

93 However, DNA methylation in the first exon can prevent CTCF binding in most cancers, but

94 The region between the functional first exons cannot direct transcription.

95 showed previously that promoter/alternative first exon choice is coupled to downstream splicing even

96 suggesting that RBPs play important roles in first exon choice.

97 EGFA148 isoforms, including three from novel first exons consistent with existing transcription start

98 NA splicing occurs such that only one of the first exons (containing only untranslated mRNA) is incor

99 ng with its associated enhancer elements and first exon could be deleted without appreciable loss of

100 rolonged binding of the STAT1 complex to the first exon could impair PML transcription and inhibit th

101 ing the LMP1, LMP1-LMP2B promoter, and LMP2B first exon demonstrates the most dramatic nucleotide seq

102 inyltransferase that contain the alternative first exons differentially arginylate these proteins in

103 Second, for the first exons, DNA methylation level is negatively correla

104 al 18 amino acids of SNAP-23 (encoded in the first exon) dramatically inhibited binding of SNAP-23 to

105 Distinct first exons driven from separate promoters are spliced o

106 ive first exon far downstream of the primary first exon eliminates this conundrum.

107 l characteristics of protocadherins, a large first exon encodes the extracellular domain of each gene

108 The first exon encodes the translation initiation codon and

109 sequence was present in all exons, with the first exon encoding a mitochondrial signal peptide.

110 d in dendritic cells (DC-CIITA) has a unique first exon encoding an extended N-terminal region of CII

111 exon (Ex1B) located 10.5 kb upstream of the first exon (Ex1A) for canonical MTP (MTP-A); MTP-C conta

112 MTP-B has a unique first exon (Ex1B) located 10.5 kb upstream of the first

113 Sequence analysis of the noncoding first exon (exon 1) of the Syk gene demonstrated the pre

114 ithin this region lies a fourth promoter and first exon (exon 1A) that generates paternal-specific mR

115 n this region is an alternative promoter and first exon (exon 1A), generating transcripts that are no

116 racterized by the presence of an alternative first exon (exon 1b) that is spliced to exon 2 of the kn

117 l half of p14ARF, encoded by the alternative first exon (exon 1beta) contacts MDM2 through multiple d

118 differs from SK3 by utilizing an alternative first exon (exon 1C) in place of exon 1A used by SK3, bu

119 exon II or additionally contain a non-coding first exon (exon IA) spliced to exon II.

120 he nkx2.2 gene has two noncoding alternative first exons (exons 1a and 1b).

121 ginally noted is in fact a minor alternative first exon far downstream of the primary first exon elim

122 , encompassing the promoter, some enhancers, first exon, first intron and a small part of the second

123 ering exons, 280-500 bases upstream from the first exon for each gene, and 350 bases of the second in

124 mice with targeted deletion of exon 4A (the first exon for KS-WNK1) exhibited Na(+) retention, eleva

125 ermore, TEs act as alternative promoters and first exons for a subset of host genes, regulating their

126 ly, we present the analysis of the predicted first exons for all of the 24 chromosomes of the human g

127 r canonical MTP (MTP-A); MTP-C contains both first exons for MTP-A and MTP-B.

128 00 bp downstream to the previously described first exon found in hemopoietic cells (1E(A)) and approx

129 deletion of the oocyte-specific promoter and first exon from the Dnmt1 locus.

130 ndem-repeated sequences and exons other than first exons, from analysis.

131 r with short surrounding sequences from both first exons, functions bi-directionally as a core-promot

132 Although use of multiple alternative first exons generates unique noncoding 5'-ends for gamma

133 The identification of promoters and first exons has been one of the most difficult problems

134 t causes Huntington's disease (HD) is in the first exon (HDx-1) of huntingtin (Htt).

135 is isoform contains an alternatively spliced first exon (IB) that is distinct from the first exon (IE

136 The newly discovered first exon, identified by 5'-rapid amplification of cDNA

137 ed first exon (IB) that is distinct from the first exon (IE) incorporated in the major erythroid mRNA

138 tional start site of the hTERT gene into the first exon in 37 cell lines.

139 ain insertions of a selectable marker in the first exon in either orientation, and, in the third, the

140 methylation within the RIN1 promoter and the first exon in KPL-1 cells suggested that epigenetic modi

141 art, by increased binding of MDBP/RFX to the first exon in response to methylation in this region.

142 expansion of the polyglutamine repeat in the first exon in the androgen receptor gene.

143 bases to assess the frequency of alternative first exons in the genome.

144 A methylation progressively spreads from the first exon into the promoter area of this gene.

145 of the BCL-6 gene and a wild-type BCL-6 gene first exon-intron boundary region.

146 between the transcription start site and the first exon-intron junction.

147 y blocking transcriptional elongation at the first exon/intron border of the c-myc gene.

148 g transcription elongation at sites near the first exon/intron border.

149 indicate that a cis-element residing at the first exon/intron junction, encompassing an E-box motif,

150 r=-0.24, p=0.07), and DNAm in SST 5' UTR and first exon/intron negatively correlated with SST express

151 n unusual organization in which a non-coding first exon is alternatively spliced at the 5' end of two

152 The first exon is lengthy and untranslated, and the second e

153 tients: A nonsense mutation (p.W253X) in the first exon is likely to be a null allele; the second, a

154 rised of five introns and six exons, and the first exon is non-coding.

155 NESPAS/XLalphas promoter region and XLalphas first exon is not always concordant even though they are

156 esides in the second exon, and the noncoding first exon is separated from the second exon by a 14-kb

157 The first exon is separated from the second exon by a large

158 An amino acid response element within the first exon is shown to be required for the response to a

159 lation of CpG islands, CpG island shores and first exons is known to play a key role in the altered g

160 smaller protein (34 kDa) with an alternative first exon (isoform 4).

161 Except for an extra novel first exon, its 14-exon structure agrees well with that

162 This isoform, MTP-B, has a unique first exon located approximately 2.7 kilobases upstream

163 ue sequences originated from two alternative first exons, located in tandem and separated by approxim

164 Its first exon-more specifically the first 17 amino acids (H

165 ntially to intergenic diversity; alternative first exons, most of which map far upstream of the codin

166 ed the structural-functional properties of a first exon mutant of BCR lacking the oligomerization dom

167 f a Mutator (Mu) transposable element in the first exon of a gene homologous to the nematode gene, sm

168 n the mutant rat had a 17 bp deletion in the first exon of Adamts16, introducing a stop codon in the

169 his mutant revealed a T-DNA insertion at the first exon of an Arabidopsis thaliana gene encoding for

170 The T-DNA insertion appeared in the first exon of an open reading frame on chromosome 1 (F3M

171 the most 5' exon is transcribed through the first exon of another gene that is transcribed in the op

172 ber tandem repeat (VNTR) polymorphism in the first exon of AS3MT that is associated with the expressi

173 ulation, demonstrate that methylation in the first exon of COL1A2 at a regulatory factor for X box (R

174 tion of an antisense promoter located in the first exon of each Pcdhalpha alternate gene.

175 ) yields a spliced message that includes the first exon of Fem1c and the beta Geo coding region.

176 ion protein (FGF14N-beta-gal) containing the first exon of FGF14 and beta-galactosidase.

177 There is a nonsense mutation within the first exon of FRO2 in frd1-1 and a missense mutation wit

178 on of the HASNT gene is complementary to the first exon of HAS2, which represents the 5'-untranslated

179 essor element 650 base pairs upstream of the first exon of HLA-B7.

180 perfect trinucleotide repeats encoded by the first exon of HOXA13 have been reported in hand-foot-gen

181 at a stretch of guanine-rich sequence in the first exon of hTERT and located within the CTCF-binding

182 The first exon of Htt encodes 17 amino acids followed by a p

183 expansion of the polyglutamine domain in the first exon of huntingtin (HttEx1).

184 The first exon of Huntingtin-a protein with multiple biologi

185 heterozygous mice in which Gfp replaced the first exon of Il4, a range of patterns of CpG methylatio

186 As this mutation occurs in the first exon of INK4a (exon 1alpha), it has no effect on t

187 These results indicate that the first exon of Nhs1 contains crucial information required

188 en a frameshifting mutation in the canonical first exon of NOD2 of marmoset and tamarin species and t

189 e (-291Tdel and -245T-->G), which map to the first exon of NR4A2 and affect one allele in 10 of 107 i

190 rting a floxed transcriptional stop into the first exon of p53, anticipating that this would allow ti

191 s have shown that the region surrounding the first exon of PEG3 contains a differentially methylated

192 ion of the ISRE, which is located within the first exon of PML, is critical to block PML induction by

193 s two entire genes, PLEK and CNRIP1, and the first exon of PPP3R1 (protein coding), in addition to fo

194 s2294008, within an alternative untranslated first exon of PSCA.

195 The first exon of RARbeta5 does not contain any translation

196 t samples show widespread methylation in the first exon of RASSF1A.

197 The deletion ablated all but the first exon of SLC13A1, a sodium/sulfate symporter respon

198 kat-Tat101) but not in Jurkat expressing the first exon of Tat (Jurkat-Tat72), proving that the secon

199 p17 gag, the V3-V5 region of env, and/or the first exon of tat and phylogenetically analyzed.

200 ing domain; 10% of mutations occurred in the first exon of the alpha-isoform.

201 The first exon of the BCR gene is a critical part of this fu

202 ) site between the transcriptional start and first exon of the blr1 gene, were necessary.

203 We determined the DNA sequences of the first exon of the CATSPER1 gene from 15 primates, which

204 In line 5580, T-DNA is inserted in the first exon of the CYCD3;2 gene; in homozygous 5580 plant

205 We inserted a lacZ reporter gene into the first exon of the Dlx3 gene by using homologous recombin

206 ith a LacZ reporter inserted in frame in the first exon of the Dlx3 gene.

207 semi-dominant 7-base-pair duplication in the first exon of the forkhead box I3 gene (FOXI3) shared by

208 ese deleterious mutations (102C > A), in the first exon of the GBE1 gene (GBE1(102C>A)).

209 different 5' UTRs that form the untranslated first exon of the gene (referred to as rHO-2, rHO-2-1 an

210 e highly methylated in the 5' region and the first exon of the gene that demonstrated features charac

211 of UVC on CHOP expression is located in the first exon of the gene, a 5'-untranslated region that is

212 wnstream of the Cyln2 gene and including the first exon of the Gtf2ird1 gene.

213 an expanded CAG trinucleotide repeat in the first exon of the HD gene, which results in a toxic poly

214 nvolves a YY1 binding element located in the first exon of the HLA-DRA gene.

215 inding of CCCTC-binding factor (CTCF) to the first exon of the hTERT gene can down-regulate its expre

216 into glutamine) trinucleotide repeats in the first exon of the human huntingtin (HTT) gene.

217 ase that is caused by a CAG expansion in the first exon of the huntingtin gene.

218 The first exon of the Huntingtin protein (Httex1) is one of

219 ingle molecule and nanometer scale using the first exon of the Huntingtin protein as a model system (

220 ing mice in which the eGfp gene replaced the first exon of the Il4 gene (G4 mice), we examined produc

221 s to identify a highly conserved alternative first exon of the LEU2 gene, giving rise to a novel tran

222 A mouse line in which part of the first exon of the Lrat gene has been flanked by loxP sit

223 fter an alternative splicing event where the first exon of the MAST2 gene spliced into an intronic SV

224 The first exon of the mouse CP49 gene was deleted by using t

225 ted, rs10993994, is 57 bp centromeric of the first exon of the MSMB gene, which encodes beta-microsem

226 y sequencing the genomic region flanking the first exon of the murine Rad51l2 gene.

227 by a short (GCG)(8-13) expansions within the first exon of the poly(A)-binding protein nuclear 1 gene

228 ontains a deletion spanning the promoter and first exon of the predicted coding region in every non-p

229 methylation patterns in a CpG island in the first exon of the promoter during lung tumour developmen

230 ha-syn and Htt fragment corresponding to the first exon of the protein (HttEx1).

231 the larger product, which contains both the first exon of the Rev protein and a translated portion o

232 neered pan-triadin-null mice by removing the first exon of the triadin gene.

233 dogene that integrated into the promoter and first exon of the tumour suppressor gene, MGA, abrogated

234 This demonstrated that mRNAs from the first exons of both genes were increased in erythroid an

235 asts, targeting the promoters, enhancers and first exons of genes that normally regulate B cell diffe

236 o clarify this, mRNA representing the unique first exons of INK4a and ARF were analyzed by semiquanti

237 5 DNase I HS sites are found in promoters or first exons of known genes, but nearly half of the most

238 The first exons of ORL1 and GAIP are separated by only 83 bp

239 icited demethylation in the promoters and/or first exons of the genes that were reactivated.

240 5'-untranslated regions normally make up the first exons of two ubiquitously expressed genes clustere

241 lting from alternative splicing of different first exons onto a common exon 2.

242 The identification that the first exon originally noted is in fact a minor alternati

243 N-SCAN's transcription-start site (TSS) and first exon predictions both computationally and experime

244 ot only identify quadruplex formation in the first exon promoted by CpG dinucleotide methylation as a

245 ut this gene (Solyc06g083450) is missing the first exon, raising the question of whether cultivated t

246 ntly higher at the proximal promoter and the first exon region of all three genes in memory CD8 T cel

247 s expected to be located in the promoter and first exon region of genes.

248 island, located within the promoter and the first exon regions of RASSF1A, in normal breast tissue c

249 hich carries a transfer DNA insertion in the first exon, remains unaffected.

250 ce binding, did not block the binding of Bcr first exon sequences to the Abl SH2 domain.

251 similarity between the entire c- and N- myc first exon sequences, many positions of pol II pausing,

252 ilar to that of the repressor binding to the first exon sequences.

253 lly supported full-length cDNA, promoter and first exon sequences; (2) homology information from Homo

254 TR3 and membrane-bound COMT mRNAs had common first exon sequences; however, transcription start sites

255 The single zDJ-1 first exon shows 5' end heterogeneity, reflecting multip

256 In the protein 4.1R gene, alternative first exons splice differentially to alternative 3' spli

257 TR3 forms that are generated by alternative first exon splicing and that differ in their N-terminal

258 he discovery that MGST1 utilizes alternative first exon splicing eliminates a problem with the first

259 In these genes, alternative first exon splicing resulted in the formation of predict

260 ved genetic mechanisms employing alternative first exon splicing.

261 principal cells differentially express ANK3 first exon subtypes.

262 Nearly all proteins affected alternative first exons, suggesting that RBPs play important roles i

263 ation initiation sites among the alternative first exons suggests that many proteins have alternative

264 losely associated with many of the candidate first exons, supporting their authenticity.

265 s effect on the expression and processing of first exons than has been reported for internal exons.

266 ol) contains a 10-nucleotide deletion in its first exon that causes it to code for a truncated protei

267 e splice form (Na(v)1.4bL) possesses a novel first exon that encodes a 51 aa N-terminal extension.

268 nt N-terminal sequence because of a separate first exon that is located 11.5 kb downstream from the P

269 ICCV 96029 revealed an 11-bp deletion in the first exon that was predicted to result in a premature s

270 distinct promoters and form two alternative first exons that are subsequently spliced to the common

271 le transcriptional promoters and alternative first exons that contribute another layer of complexity

272 t promoters that produce different noncoding first exons that splice into a common second exon.

273 veloped a BAC mouse model featuring a floxed first exon to permit cell-type-specific excision of huma

274 splice from a cryptic donor site within the first exon to the splice acceptor site of exon 2.

275 region immediately upstream of the dominant first exon transcriptionally responds to oxidative stres

276 +1 nt) initiate transcription of alternative first exons (U(1) and U(2)).

277 CAR1 mRNA variants, generated by alternative first exon usage (1B, 1B1, 1D, and 1E).

278 ces changes in alternative splicing (AS) and first exon usage, increasing the diversity of transcript

279 an the last of the 10 upstream exons and the first exon used from the original cluster of RGS3 exons.

280 by selective deletion of the Romk1-specific first exon using an ES cell Cre-LoxP strategy and examin

281 rnate promoter, and an untranslated upstream first exon was carried out, and no mutations were found

282 A 211 bp sequence 2 kb upstream of the first exon was found to be a major enhancer driving expr

283 To target the mouse gene, the first exon was replaced by a LacZ marker gene joined to

284 located at the 5'-end regions (including the first exons) was used to assess effects of epigenetic tr

285 s to predict CpG-related and non-CpG-related first exons, we showed by cross-validation that the prog

286 cko mice, in which the proximal promoter and first exon were deleted ubiquitously, were back-crossed

287 that intragenic E2F sites down-stream of the first exon were responsible for RB-mediated repression o

288 Two other potential first exons were determined to be nonfunctional.

289 2 gene (also known as FGF13) has alternative first exons which produce multiple protein isoforms that

290 the classical p21WAF1/CIP1 transcript in the first exon, which is located at approximately 2.8 kb ups

291 ues are encoded by different tissue-specific first exons, which are spliced onto a common site just u

292 well as two of the six validated alternative first exons, which encode distinct protein domains at th

293 is generated from a promoter upstream of the first exon, while the shorter transcript is derived from

294 were enriched in promoters, CpG islands, and first exons, while methylated domains comprised interspe

295 ERGalt uses a non-canonical first exon whose transcription was initiated by DUX4 bin

296 pe, we disrupted mouse Six5 by replacing the first exon with a beta-galactosidase reporter.

297 and replaced the translation start site and first exon with a lacZ reporter gene.

298 n the germline of mice by replacement of the first exon with the lacZ-coding region.

299 on that the program could predict 86% of the first exons with 17% false positives.

300 methylation within the Gsalpha promoter and first exon, with no H3K9 methylation.