HsaEX0025056 @ hg19
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:3604]
Coordinates
chr5:127654571-127671269:-
Coord C1 exon
chr5:127671147-127671269
Coord A exon
chr5:127670862-127670987
Coord C2 exon
chr5:127654571-127654693
Length
126 bp
Sequences
Splice sites
3' ss Seq
TGCTAATTTTGTATCATCAGACA
3' ss Score
5.17
5' ss Seq
TTGGTGGGT
5' ss Score
4.3
Exon sequences
Seq C1 exon
ATATTGATGAATGTATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATTCAGAGGGAAGCTACGAATGCAGCTGCAGTGAGGGTTATGCCCTGATGCCAGATGGGAGATCGTGTGCAG
Seq A exon
ACATTGATGAATGTGAAAACAATCCTGATATCTGTGATGGCGGCCAGTGTACCAACATTCCTGGAGAGTATCGCTGCCTCTGCTATGATGGCTTCATGGCTTCCATGGACATGAAAACATGCATTG
Seq C2 exon
ATATTGATGAATGCTCCTTCCAAAACATTTGTGTCTTTGGAACATGTAATAACCTGCCTGGAATGTTTCATTGCATCTGCGATGATGGTTATGAATTGGACAGAACAGGAGGGAACTGTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829_MULTIEX1-24/55=23-29
Average complexity
C3
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:
PF062476=Plasmod_Pvs28=FE(43.2=100),PF146701=FXa_inhibition=WD(100=85.7),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF062476=Plasmod_Pvs28=PD(16.8=37.2),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:
TTGATGAATGTATGATAATGAACGGA
R:
TGTACAGTTCCCTCCTGTTCTGT
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
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)