Special

HsaEX0036910 @ hg38

Exon Skipping

Gene
Description
latent transforming growth factor beta binding protein 2 [Source:HGNC Symbol;Acc:HGNC:6715]
Coordinates
chr14:74507973-74508952:-
Coord C1 exon
chr14:74508830-74508952
Coord A exon
chr14:74508604-74508729
Coord C2 exon
chr14:74507973-74508095
Length
126 bp
Sequences
Splice sites
3' ss Seq
TCCCCATCTTTTCCCTGCAGATG
3' ss Score
13.22
5' ss Seq
AGGGTGAGA
5' ss Score
6.65
Exon sequences
Seq C1 exon
ATGTGGATGAATGTGAAGACCCCCAGAGCAGCTGCCTGGGAGGCGAGTGCAAGAACACTGTGGGCTCCTACCAGTGCCTCTGTCCCCAGGGCTTCCAGCTGGCCAATGGCACCGTGTGTGAGG
Seq A exon
ATGTGAATGAGTGCATGGGGGAGGAGCACTGCGCACCCCACGGCGAGTGCCTCAACAGCCACGGGTCTTTCTTCTGTCTGTGCGCGCCTGGCTTCGTCAGCGCAGAGGGGGGCACCAGCTGCCAGG
Seq C2 exon
ATGTGGACGAGTGTGCCACCACAGACCCGTGTGTGGGAGGGCACTGTGTCAACACCGAGGGCTCCTTCAACTGTCTATGTGAGACTGGCTTCCAGCCCTCCCCAGAGAGTGGAGAGTGTGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119681-'61-56,'61-54,62-56
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF0764510=EGF_CA=WD(100=95.2),PF062476=Plasmod_Pvs28=PU(20.4=76.2)
A:
PF062476=Plasmod_Pvs28=FE(26.8=100),PF0764510=EGF_CA=WD(100=95.3)
C2:
PF0764510=EGF_CA=WD(100=95.2),PF0764510=EGF_CA=PU(0.1=0.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGATGAATGTGAAGACCCCC
R:
ACACACTCTCCACTCTCTGGG
Band lengths:
242-368
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