HsaEX0025059 @ hg38
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128318879-128330695:-
Coord C1 exon
chr5:128330573-128330695
Coord A exon
chr5:128328696-128328821
Coord C2 exon
chr5:128318879-128319001
Length
126 bp
Sequences
Splice sites
3' ss Seq
TAATTTGCTTTTTTGCACAGATG
3' ss Score
7.45
5' ss Seq
AAGGTGGGT
5' ss Score
8.23
Exon sequences
Seq C1 exon
ATCTGGACGAATGTTCTAATGGAACCCACCAGTGTAGCATCAATGCTCAGTGTGTAAATACCCCGGGCTCATACCGCTGTGCCTGCTCCGAAGGTTTCACTGGTGATGGCTTTACCTGCTCAG
Seq A exon
ATGTTGATGAGTGTGCAGAAAACATAAACCTCTGTGAGAACGGACAGTGCCTTAATGTCCCGGGTGCATATCGCTGCGAGTGTGAGATGGGCTTCACTCCAGCCTCAGACAGCAGATCCTGCCAAG
Seq C2 exon
ATATTGATGAATGCTCCTTCCAAAACATTTGTGTCTTTGGAACATGTAATAACCTGCCTGGAATGTTTCATTGCATCTGCGATGATGGTTATGAATTGGACAGAACAGGAGGGAACTGTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-'61-79,'61-78,63-79
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=95.2),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.2),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:
ATCTGGACGAATGTTCTAATGGA
R:
ACAGTTCCCTCCTGTTCTGTCC
Band lengths:
242-368
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