Special

HsaEX0036953 @ hg38

Exon Skipping

Gene
ENSG00000090006 | LTBP4
Description
latent transforming growth factor beta binding protein 4 [Source:HGNC Symbol;Acc:HGNC:6717]
Coordinates
chr19:40619347-40623732:+
Coord C1 exon
chr19:40619347-40619493
Coord A exon
chr19:40622401-40622667
Coord C2 exon
chr19:40623604-40623732
Length
267 bp
Sequences
Splice sites
3' ss Seq
AAAGCTCCTTGTCTCCCCAGGCA
3' ss Score
8.73
5' ss Seq
CAGGTGGGC
5' ss Score
8.07
Exon sequences
Seq C1 exon
ATGTGAACGAGTGTGAAACACTACAGGGTGTATGTGGAGCTGCCCTGTGTGAAAATGTCGAAGGCTCCTTCCTCTGTGTCTGCCCCAACAGCCCGGAAGAGTTTGACCCCATGACTGGACGCTGTGTTCCCCCACGAACTTCTGCTG
Seq A exon
GCACGTTCCCAGGCTCGCAGCCCCAGGCACCTGCTAGCCCCGTTCTGCCCGCCAGGCCACCTCCGCCACCCCTGCCCCGCCGACCCAGCACACCTAGGCAGGGCCCTGTGGGGAGTGGGCGCCGGGAGTGCTACTTTGACACAGCGGCCCCGGATGCATGTGACAACATCCTGGCTCGGAATGTGACATGGCAGGAGTGCTGCTGTACTGTGGGTGAGGGCTGGGGCAGCGGCTGCCGCATCCAGCAGTGCCCGGGCACCGAGACAG
Seq C2 exon
ACGTGGACGAATGTCAGCTCTTCCGAGACCAGGTGTGCAAGAGTGGCGTGTGTGTGAACACGGCCCCGGGCTACTCATGCTATTGCAGCAACGGCTACTACTACCACACACAGCGGCTGGAGTGCATCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090006_MULTIEX2-1/4=C1-3
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact





	

	
Alternative protein isoforms (Ref)





Show structural model

		

			
Features


			

				
Disorder rate (Iupred):
  C1=0.113 A=0.400 C2=0.000
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
PF0764510=EGF_CA=WD(100=84.0),PF0764510=EGF_CA=PU(0.1=0.0)

							
A:
PF0068312=TB=PU(86.4=42.2)

							
C2:
PF0764510=EGF_CA=WD(100=95.5),PF0764510=EGF_CA=PU(0.1=0.0)

						

					

				








    
Main Inclusion Isoform:
ENSP00000479712





     
                   









    
Main Skipping Isoform:
ENSP00000469785





     
      









    
Other Inclusion Isoforms:
ENSP00000204005, ENSP00000243562, ENSP00000311905, ENSP00000380031, ENSP00000470824, ENSP00000472995, ENSP00000480888
          









    
Other Skipping Isoforms:
ENSP00000469406, ENSP00000478928
  



Associated events







Other assemblies


hg19




Conservation


Mouse
(mm10)
chr7:27310521-27310787 
HIGH PSI
MmuEX0027279
(Ltbp4)
Mouse
(mm9)
chr7:28095540-28095806 
HIGH PSI
MmuEX0027279
(Ltbp4)
Rat
(rn6)
chr1:84123306-84123572 
HIGH PSI
RnoEX0051407
(Ltbp4)
Cow
(bosTau6)
chr18:50194473-50194739 
HIGH PSI
BtaEX6082445
(LTBP4)
Chicken
(galGal4)
chr5:37208052-37208284 
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
chr18:49019755-49019894 
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
CAGGGTGTATGTGGAGCTGC

				
R: 
GATGCACTCCAGCCGCTG

				
Band lengths: 
252-519

			

		

	





	
Functional annotations
(Submit an annotation)

	


There are 1 annotated functions for this event 


PMID: 11683420
HsaEX0036953
LTBP-4delta8-Cys3rd (skipping of both exons) does not bind TGF-beta and it was found to be expressed in the same tissues as the full length LTBP-4


		










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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