Special

HsaEX0036901 @ hg19

Exon Skipping

Gene
Description
latent transforming growth factor beta binding protein 2 [Source:HGNC Symbol;Acc:6715]
Coordinates
chr14:75019595-75052821:-
Coord C1 exon
chr14:75052557-75052821
Coord A exon
chr14:75022206-75022396
Coord C2 exon
chr14:75019595-75019765
Length
191 bp
Sequences
Splice sites
3' ss Seq
TGCCGCGGTTGTCTCCACAGGAC
3' ss Score
12.02
5' ss Seq
GGGGTAAGG
5' ss Score
8.05
Exon sequences
Seq C1 exon
CCGTTTGCGAGCCGCCGTGCCAGAACCGGGGCTCCTGCAGCCGCCCGCAGCTCTGTGTCTGCCGCTCTGGTTTCCGTGGAGCCCGCTGCGAGGAGGTCATTCCCGATGAGGAATTTGACCCCCAGAACTCCAGGCTGGCACCTCGACGCTGGGCCGAGCGTTCACCCAACCTGCGCAGGAGCAGTGCGGCTGGAGAGGGCACCTTGGCCAGAGCACAGCCGCCAGCACCACAGTCGCCGCCCGCACCACAGTCGCCACCAGCTGG
Seq A exon
GACCCTGAGTGGCCTCAGCCAGACCCACCCTTCCCAGCAGCACGTGGGGTTGTCCCGCACTGTCCGACTTCACCCGACTGCCACGGCCAGTAGCCAGCTCTCTTCCAACGCCCTGCCCCCGGGACCAGGCCTTGAGCAGAGAGATGGCACCCAACAGGCGGTACCTCTGGAGCACCCCTCATCCCCCTGGG
Seq C2 exon
GGCTGAACCTCACGGAGAAAATCAAGAAGATCAAGATCGTCTTCACTCCCACCATCTGCAAGCAGACCTGTGCCCGTGGACACTGTGCCAACAGCTGTGAGAGGGGCGACACCACCACCCTGTACAGCCAGGGCGGCCATGGGCACGATCCCAAGTCTGGCTTCCGCATCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119681-'2-6,'2-5,7-6
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.652 A=0.985 C2=0.155
Domain overlap (PFAM):

C1:
PF079748=EGF_2=WD(100=31.5)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAGGTCATTCCCGATGAGGA
R:
CAGGTCTGCTTGCAGATGGTG
Band lengths:
244-435
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development