HsaEX6099722 @ hg19
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:3604]
Coordinates
chr5:127685039-127686697:-
Coord C1 exon
chr5:127686560-127686697
Coord A exon
chr5:127685647-127685697
Coord C2 exon
chr5:127685039-127685164
Length
51 bp
Sequences
Splice sites
3' ss Seq
TTGTCCTGTTGTTGTTACAGATA
3' ss Score
9.98
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
ACAGCCTGAAGGGGACCTGTTGGCTCAACATCCAGGACAGCCGCTGTGAGGTGAATATTAATGGAGCCACTCTGAAATCTGAATGCTGTGCCACCCTCGGAGCCGCCTGGGGGAGCCCCTGTGAGCGGTGTGAACTAG
Seq A exon
ATACAGCTTGCCCAAGAGGGCTTGCCAGGATTAAAGGTGTTACGTGTGAAG
Seq C2 exon
ATGTTAATGAGTGTGAGGTGTTCCCTGGCGTTTGTCCAAATGGACGCTGTGTCAACAGTAAGGGATCTTTTCATTGCGAGTGCCCTGAAGGCCTTACGTTGGATGGGACTGGCCGTGTATGTTTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-'33-37,'33-36,34-37=AN
Average complexity
A_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:
PF0068312=TB=PU(80.5=70.2)
A:
PF0068312=TB=PD(17.1=38.9),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.3)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGTGAGCGGTGTGAACTAG
R:
CAGTCCCATCCAACGTAAGGC
Band lengths:
132-183
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)