HsaEX6099728 @ hg19
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:3604]
Coordinates
chr5:127653841-127664513:-
Coord C1 exon
chr5:127664388-127664513
Coord A exon
chr5:127654571-127654693
Coord C2 exon
chr5:127653841-127653963
Length
123 bp
Sequences
Splice sites
3' ss Seq
CTTTTTTTTAAAATCTTCAGATA
3' ss Score
7.95
5' ss Seq
CAGGTATGG
5' ss Score
9.99
Exon sequences
Seq C1 exon
ATGTTGATGAGTGTGCAGAAAACATAAACCTCTGTGAGAACGGACAGTGCCTTAATGTCCCGGGTGCATATCGCTGCGAGTGTGAGATGGGCTTCACTCCAGCCTCAGACAGCAGATCCTGCCAAG
Seq A exon
ATATTGATGAATGCTCCTTCCAAAACATTTGTGTCTTTGGAACATGTAATAACCTGCCTGGAATGTTTCATTGCATCTGCGATGATGGTTATGAATTGGACAGAACAGGAGGGAACTGTACAG
Seq C2 exon
ATATTGATGAGTGTGCAGATCCTATAAACTGTGTCAATGGCCTATGTGTCAACACGCCTGGTCGCTATGAGTGTAACTGCCCACCCGATTTTCAGTTGAACCCAACTGGTGTGGGTTGTGTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-'46-51,'46-50,49-51=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=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.2),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=97.6)
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:
TGTTGATGAGTGTGCAGAAAACA
R:
AACACAACCCACACCAGTTGG
Band lengths:
247-370
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)