HsaEX0025052 @ hg38
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128464724-128527967:-
Coord C1 exon
chr5:128527872-128527967
Coord A exon
chr5:128519273-128519368
Coord C2 exon
chr5:128464724-128464921
Length
96 bp
Sequences
Splice sites
3' ss Seq
CTTGCTATTTTTGTATGCAGCTG
3' ss Score
7.8
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
Exon sequences
Seq C1 exon
TTCAGCAGTGCAGTGTGAGATGCATGAATGGTGGGACCTGTGCAGATGACCACTGCCAGTGCCAGAAAGGATATATTGGAACTTATTGTGGACAAC
Seq A exon
CTGTCTGTGAAAATGGATGTCAGAATGGTGGACGTTGCATCGGACCCAACCGCTGTGCTTGTGTTTATGGGTTCACTGGTCCACAGTGTGAAAGAG
Seq C2 exon
ATTACAGGACAGGCCCGTGTTTCACTCAGGTCAACAACCAGATGTGCCAAGGGCAGCTGACAGGCATTGTCTGCACGAAGACTCTGTGCTGTGCCACCATTGGACGGGCGTGGGGCCATCCCTGTGAGATGTGTCCAGCCCAGCCTCAGCCCTGCCGACGGGGTTTCATCCCCAACATCCGCACTGGAGCTTGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-'11-27,'11-14,14-27
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:
NO
A:
NO
C2:
PF0068312=TB=WD(100=64.2),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:
ATGCATGAATGGTGGGACCTG
R:
GTGGCACAGCACAGAGTCTTC
Band lengths:
174-270
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