Special

HsaEX0017868 @ hg38

Exon Skipping

Gene
NA
Description
NA
Coordinates
chr11:57815394-57819546:+
Coord C1 exon
chr11:57815394-57815500
Coord A exon
chr11:57815918-57816001
Coord C2 exon
chr11:57816297-57819546
Length
84 bp
Sequences
Splice sites
3' ss Seq
ATTGCATGTGTTCACAGCAGGAC
3' ss Score
4.88
5' ss Seq
ATGGTATGT
5' ss Score
8.35
Exon sequences
Seq C1 exon
ATAACAACTATTCCACACCAAATGAGAGAGGAGACCACAATAGAACACTGGATCGATCGGGGGATCTAGGCGACATGGAGCCATTGAAGGGAACAACACCCTTGATG
Seq A exon
GACGAGGGGCAGGAATCTCTGGAGGAAGAGTTGGATGTGTTGGTTTTGGATGATGAGGGGGGCCAAGTGTCTTACCCCTCCATG
Seq C2 exon
CAGAAGATTTAGCACCACTATCTCCGTTCCATCTGGGCTTATATGTACTTTTATTTTTTGGTGGTGAAATTGACTGATGATTTTCCTTTTTCTTCGCTGGACTATTGTGCCAACTGCCAGGCTGCCTCCTGCCCTTACAGCCCTAAGTGGCTGCCTTCTTTCCATCAACTCCCAACTTCTTCCTGTGAAGTTTAATTGTCTCAACGCCTCCCCCTCCCCCATTCCCTCCATTTTTCTCCCAAGAAACCTGACTCAATTATTTGCATATTTTGAGAAACTGCTGCAGATTAGTTCTTTTTGCCAGTTTTCCCTGGAACTCCTGGCCTTTTGTGGAGGGGAGGGATGGAGAGAATAGGAATCTTCACTAGAAGCCGTGGGAAGAATTGGAAGTTACATGCTGTATATGCAATGTCCAGCAGTCTGATAAACTGACGATTCTTAATCAAGATTTTTTTCCTGATGGGGAAGGGACTTTTATTTTCTTTTAGAGAGGGGAAAGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198561-'58-61,'58-60,59-61
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact





	

	
NA





No structure available

		

			
Features


			

				
Disorder rate (Iupred):
  C1=NA A=NA C2=NA
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
NO

							
A:
NO

							
C2:
NO

						

					

				








    
Main Inclusion Isoform:
ENST00000524630fB1891





     
                   









    
Main Skipping Isoform:
ENSP00000354907





     
      









    
Other Inclusion Isoforms:
ENSP00000354785, ENSP00000354823, ENSP00000382004, ENSP00000403518, ENSP00000431208, ENSP00000432623, ENSP00000433276, ENSP00000433334, ENSP00000434900, ENSP00000434949, ENSP00000435494, ENSP00000437051, ENSP00000437327
          









    
Other Skipping Isoforms:
ENSP00000351527, ENSP00000409930, ENSP00000413586, ENSP00000432041, ENSP00000432075, ENSP00000432243, ENSP00000433158, ENSP00000434017, ENSP00000434672, ENSP00000434808, ENSP00000435266, ENSP00000435379, ENSP00000435789, ENSP00000436323, ENSP00000436543, ENSP00000436744, ENSP00000437156
  



Associated events






Other assemblies


hg19




Conservation


Mouse
(mm10)
chr2:84603188-84603274 
ALTERNATIVE
MmuEX0013078
(Ctnnd1)
Mouse
(mm9)
chr2:84443345-84443431 
ALTERNATIVE
MmuEX0013078
(Ctnnd1)
Rat
(rn6)
chr3:72004303-72004386 
ALTERNATIVE
RnoEX0025202
(Ctnnd1)
Cow
(bosTau6)
chr15:82326513-82326596 
ALTERNATIVE
BtaEX0010331
(CTNND1)
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
chr5:18130128-18130193 
ALTERNATIVE
GgaEX0010415
(Q5ZJ21_CHICK)
Zebrafish
(danRer10)
chr1:43523508-43523602 
ALTERNATIVE
DreEX6032657
(ctnnd1)
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
GGATCGATCGGGGGATCTAGG

				
R: 
TGGCACAATAGTCCAGCGAAG

				
Band lengths: 
170-254

			

		

	





	
Functional annotations
(Submit an annotation)

	


There are 1 annotated functions for this event 


PMID: 10393933
HsaEX0017868
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: competition binding, mutation analysis. ELM ID: ELMI000915; ELM sequence: ESLEEELDVLVLDDE; Overlap: FULL


		










GENOMIC CONTEXT[edit]












INCLUSION PATTERN[edit]






SPECIAL DATASETS
  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development





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