HsaEX6099734 @ hg19
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:3604]
Coordinates
chr5:127615884-127623122:-
Coord C1 exon
chr5:127623000-127623122
Coord A exon
chr5:127622410-127622541
Coord C2 exon
chr5:127615884-127616009
Length
132 bp
Sequences
Splice sites
3' ss Seq
ATTTTTATTTTTTGTTCTAGATC
3' ss Score
11.2
5' ss Seq
TAGGTAAGC
5' ss Score
8.89
Exon sequences
Seq C1 exon
ATATCAACGAATGTGCCCAGAACCCACTGCTGTGTGCTTTCCGCTGCATGAACACTTTTGGGTCCTATGAATGCACGTGCCCGATTGGCTATGCCCTCAGGGAAGATCAAAAGATGTGCAAAG
Seq A exon
ATCTGGATGAATGTGCTGAAGGGTTACACGACTGTGAATCTAGGGGCATGATGTGTAAGAATCTAATCGGCACCTTCATGTGCATCTGCCCTCCTGGAATGGCCCGAAGGCCCGATGGAGAAGGCTGTGTAG
Seq C2 exon
ATGAAAATGAATGCAGGACCAAGCCAGGAATCTGTGAAAATGGACGTTGTGTTAACATTATTGGAAGCTATAGATGTGAGTGTAATGAAGGATTCCAGTCAAGTTCTTCAGGCACTGAATGCCTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-'69-72,'69-71,70-72=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:
PF0764510=EGF_CA=WD(100=95.2),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.6),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:
ATATCAACGAATGTGCCCAGAACC
R:
TTCAGTGCCTGAAGAACTTGACT
Band lengths:
242-374
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)