Special

HsaEX6072159 @ hg38

Exon Skipping

Gene
Description
latent transforming growth factor beta binding protein 2 [Source:HGNC Symbol;Acc:HGNC:6715]
Coordinates
chr14:74503219-74504054:-
Coord C1 exon
chr14:74503926-74504054
Coord A exon
chr14:74503469-74503606
Coord C2 exon
chr14:74503219-74503386
Length
138 bp
Sequences
Splice sites
3' ss Seq
ACCCTTTCCTGCCTCCCCAGATC
3' ss Score
11.25
5' ss Seq
CGGGTGAGT
5' ss Score
9.89
Exon sequences
Seq C1 exon
ATGCGGATGAGTGTGTGATATTCGGGCCTGGTCTCTGCCCGAACGGCCGGTGCCTCAACACCGTGCCTGGTTATGTCTGCCTGTGCAATCCCGGCTTCCACTACGATGCTTCCCACAAGAAGTGTGAGG
Seq A exon
ATCACGATGAGTGCCAGGACCTGGCCTGTGAGAATGGCGAGTGCGTCAACACGGAGGGCTCCTTCCACTGCTTCTGCAGCCCCCCGCTCACCCTGGACCTCAGCCAGCAGCGCTGCATGAACAGCACCAGCAGCACGG
Seq C2 exon
AGGACCTCCCTGACCACGACATCCACATGGACATCTGCTGGAAAAAAGTCACCAATGATGTGTGCAGCGAACCCCTGCGTGGGCACCGCACCACCTACACGGAATGCTGCTGCCAGGACGGCGAGGCCTGGAGCCAGCAGTGTGCTCTGTGTCCCCCGAGGAGCTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119681-'74-68,'74-67,75-68
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=95.5),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=83.0)
C2:
PF0068312=TB=PU(86.0=64.9)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCAACACCGTGCCTGGTTATG
R:
CAGAGCTCCTCGGGGGAC
Band lengths:
243-381
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains