HsaEX6074567 @ hg19
Exon Skipping
Gene
ENSG00000166147 | FBN1
Description
fibrillin 1 [Source:HGNC Symbol;Acc:3603]
Coordinates
chr15:48826277-48888575:-
Coord C1 exon
chr15:48888480-48888575
Coord A exon
chr15:48829808-48830005
Coord C2 exon
chr15:48826277-48826402
Length
198 bp
Sequences
Splice sites
3' ss Seq
TTTTTATTCTTTATTTTCAGATT
3' ss Score
11.39
5' ss Seq
AAGGTAAAC
5' ss Score
8.14
Exon sequences
Seq C1 exon
CTGTTTGTGAAAGTGGCTGTCTCAATGGAGGAAGGTGTGTGGCCCCAAATCGATGTGCATGCACTTACGGATTTACTGGACCCCAGTGTGAAAGAG
Seq A exon
ATTACAGGACAGGCCCATGTTTTACTGTGATCAGCAACCAGATGTGCCAGGGACAACTCAGCGGGATTGTCTGCACAAAAACGCTCTGCTGTGCCACAGTCGGCCGAGCCTGGGGCCACCCCTGTGAGATGTGTCCTGCCCAGCCTCACCCCTGCCGCCGTGGCTTCATTCCAAATATCCGCACGGGAGCTTGTCAAG
Seq C2 exon
ATGTGGATGAATGCCAGGCCATCCCCGGGCTCTGTCAGGGAGGAAATTGCATTAATACTGTTGGGTCTTTTGAGTGCAAATGCCCTGCTGGACACAAACTTAATGAAGTGTCACAAAAATGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166147-'5-7,'5-6,7-7=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:
PF079748=EGF_2=WD(100=84.8)
A:
PF0068312=TB=WD(100=64.2),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
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:
TGTTTGTGAAAGTGGCTGTCTCA
R:
CTTCACATTTTTGTGACACTTCATT
Band lengths:
221-419
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)