HsaEX0025065 @ hg19
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:3604]
Coordinates
chr5:127638665-127645800:-
Coord C1 exon
chr5:127645675-127645800
Coord A exon
chr5:127644939-127645091
Coord C2 exon
chr5:127638665-127638781
Length
153 bp
Sequences
Splice sites
3' ss Seq
CTTTGTTTTTCTTTATATAGACA
3' ss Score
8
5' ss Seq
CAGGTAAGC
5' ss Score
9.88
Exon sequences
Seq C1 exon
ATATTGATGAGTGTTTTGCACATCCTGGTGTGTGTGGGCCTGGGACCTGCTATAACACCCTGGGAAATTACACCTGCATTTGCCCACCTGAGTACATGCAGGTCAATGGAGGCCACAACTGCATGG
Seq A exon
ACATGAGAAAAAGCTTTTGCTACCGAAGCTATAATGGAACCACTTGTGAGAATGAGTTGCCTTTCAATGTGACAAAAAGGATGTGCTGCTGCACATATAATGTGGGCAAAGCCTGGAACAAACCTTGTGAACCATGCCCAACTCCAGGAACAG
Seq C2 exon
ATGTTGATGAGTGCGAGCGGCATCCATGTGGAAATGGAACTTGTAAAAACACCGTTGGATCCTATAACTGTCTGTGCTACCCAGGGTTTGAACTCACTCATAATAATGATTGCCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829_MULTIEX1-35/55=34-40
Average complexity
C2
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)
A:
PF0068312=TB=PU(86.4=73.1)
C2:
PF0764510=EGF_CA=WD(100=95.0),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:
GTGTTTTGCACATCCTGGTGTG
R:
TATGAGTGAGTTCAAACCCTGGG
Band lengths:
218-371
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- 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)