HsaEX0025081 @ hg19
Exon Skipping
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:18794]
Coordinates
chr19:8154429-8155135:-
Coord C1 exon
chr19:8154983-8155135
Coord A exon
chr19:8154778-8154843
Coord C2 exon
chr19:8154429-8154554
Length
66 bp
Sequences
Splice sites
3' ss Seq
CCCTCCCCCTCTCCGTCCAGCTG
3' ss Score
10.41
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
ACACACGGCAGAGTTTCTGCTTCACCCGTTTTGAGGCTGGGAAGTGCTCGGTGCCCAAAGCTTTCAACACCACCAAGACCCGCTGCTGCTGCAGTAAGAGGCCTGGGGAGGGCTGGGGAGACCCCTGCGAACTGTGTCCCCAGGAGGGCAGCG
Seq A exon
CTGCCTTTCAGGAGCTCTGCCCCTTTGGCCACGGGGCAGTCCCAGGCCCGGATGACTCCCGAGAAG
Seq C2 exon
ACGTGAATGAGTGTGCAGAGAACCCTGGCGTCTGCACTAACGGCGTCTGTGTCAACACCGATGGATCCTTCCGCTGTGAGTGTCCCTTTGGCTACAGCCTGGACTTCACTGGCATCAACTGTGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449-'47-49,'47-47,48-49
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.155 A=0.090 C2=0.012
Domain overlap (PFAM):
C1:
PF0068312=TB=PU(86.4=73.1)
A:
PF0068312=TB=PD(11.4=21.7),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTTTGAGGCTGGGAAGTGCT
R:
GTTGACACAGACGCCGTTAGT
Band lengths:
182-248
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
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)