HsaEX0025054 @ hg19
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:3604]
Coordinates
chr5:127730815-127782299:-
Coord C1 exon
chr5:127782174-127782299
Coord A exon
chr5:127744367-127744492
Coord C2 exon
chr5:127730815-127730967
Length
126 bp
Sequences
Splice sites
3' ss Seq
CTCCTTCTTCCCTTGATTAGACA
3' ss Score
6.63
5' ss Seq
TCGGTAAGC
5' ss Score
9.86
Exon sequences
Seq C1 exon
ATGTTGATGAATGCCAGGCTATCCCAGGGATATGCCAAGGAGGAAACTGTATCAATACAGTGGGCTCTTTTGAATGCAGATGCCCTGCTGGTCACAAACAGAGTGAAACTACTCAGAAATGTGAAG
Seq A exon
ACATTGATGAGTGCAGCATCATTCCTGGGATATGTGAAACTGGTGAATGTTCCAACACCGTGGGAAGCTATTTTTGTGTTTGTCCACGTGGATATGTAACCTCAACAGATGGCTCTCGATGCATCG
Seq C2 exon
ATCAGAGAACAGGCATGTGTTTCTCGGGCCTGGTGAATGGCCGCTGTGCACAAGAGCTCCCGGGGAGAATGACGAAAATGCAGTGCTGCTGTGAGCCTGGCCGCTGCTGGGGCATCGGAACCATTCCTGAAGCCTGTCCTGTCAGAGGTTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829_MULTIEX1-2/55=1-3
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=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.3)
C2:
PF0068312=TB=PU(86.4=73.1)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGGGATATGCCAAGGAGGA
R:
TGACAGGACAGGCTTCAGGAA
Band lengths:
247-373
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- 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)