Special

HsaEX0036899 @ hg19

Exon Skipping

Gene
Description
latent transforming growth factor beta binding protein 2 [Source:HGNC Symbol;Acc:6715]
Coordinates
chr14:75002629-75018053:-
Coord C1 exon
chr14:75017767-75018053
Coord A exon
chr14:75016566-75016668
Coord C2 exon
chr14:75002629-75002703
Length
103 bp
Sequences
Splice sites
3' ss Seq
TCCATGGCCTCTCCTTCCAGTGT
3' ss Score
9.13
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
CCTCCGTGAACCCCTCCCTGGTGAAGGTGCACATTCACCACCCACCCGAGGCCTCAGTGCAGATCCACCAGGTGGCCCAGGTGCGGGGCGGGGTGGAGGAGGCCCTAGTGGAGAACAGCGTGGAGACCAGACCCCCGCCCTGGCTGCCTGCCAGCCCTGGCCACAGCCTCTGGGACAGCAACAACATCCCTGCTCGGTCTGGAGAGCCCCCTCGGCCACTGCCCCCAGCAGCACCCAGGCCTCGAGGACTGCTGGGCCGGTGTTACCTGAACACTGTGAACGGACAG
Seq A exon
TGTGCCAACCCTCTGCTGGAGCTGACTACCCAGGAGGACTGCTGTGGCAGTGTGGGAGCCTTCTGGGGGGTGACTTTGTGTGCCCCATGCCCACCCAGACCAG
Seq C2 exon
CCTCCCCGGTGATTGAGAATGGCCAGCTGGAGTGTCCTCAGGGGTACAAGAGACTGAACCTCACTCACTGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119681-'10-12,'10-9,11-12
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.568 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0068312=TB=PU(2.6=1.0)
A:
PF0068312=TB=FE(87.2=100)
C2:
PF0068312=TB=PD(5.1=7.7),PF0764510=EGF_CA=PU(0.1=0.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


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:
TAGTGGAGAACAGCGTGGAGA
R:
TGGCAGTGAGTGAGGTTCAGT
Band lengths:
255-358
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