Special

HsaEX0036882 @ hg19

Exon Skipping

Gene
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:6714]
Coordinates
chr2:33372388-33412147:+
Coord C1 exon
chr2:33372388-33372512
Coord A exon
chr2:33409868-33409915
Coord C2 exon
chr2:33411923-33412147
Length
48 bp
Sequences
Splice sites
3' ss Seq
GTTTTTTTTTTTTTTTTTAGCAT
3' ss Score
10.3
5' ss Seq
AAGGTAACT
5' ss Score
9.01
Exon sequences
Seq C1 exon
GAGTCATTATGGATCTTATTAAATGCAGATTCTGATTCAGAATCAGAATTCTGGGTAGAGCCTGAGATTCTGCATTTCTACCACATGCTCTGAGGATGCTGTGCTGCCCACCTGTGGATCACTCT
Seq A exon
CATTTCTTCTAGACATTGGGCTATGTGCTAGCAGTAAAACATAACAAG
Seq C2 exon
TAATTTGCCATCTTCCATGTATGAATGGTGGCCAGTGCAGTTCAAGGGACAAATGTCAGTGCCCTCCAAATTTCACAGGAAAACTTTGTCAGATCCCAGTCCATGGTGCCAGCGTGCCTAAACTTTATCAGCATTCCCAGCAGCCAGGCAAGGCGTTGGGGACGCATGTCATCCATTCAACACATACCTTGCCTCTGACCGTGACTAGCCAGCAAGGAGTCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323-'9-16,'9-15,12-16
Average complexity
C3
Mappability confidence:
90%=83=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=NA A=0.000 C2=0.165
Domain overlap (PFAM):

C1:
NA
A:
NA
C2:
PF0000822=EGF=WD(100=35.5)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGTAGAGCCTGAGATTCTGC
R:
GGGCACTGACATTTGTCCCTT
Band lengths:
137-185
Functional annotations
There are 0 annotated functions for this event


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