HsaEX0025069 @ hg19
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:3604]
Coordinates
chr5:127626424-127638781:-
Coord C1 exon
chr5:127638665-127638781
Coord A exon
chr5:127637074-127637202
Coord C2 exon
chr5:127626424-127626576
Length
129 bp
Sequences
Splice sites
3' ss Seq
ATACTCCTGTTTGCTTACAGACA
3' ss Score
8.65
5' ss Seq
TAGGTAAGT
5' ss Score
9.66
Exon sequences
Seq C1 exon
ATGTTGATGAGTGCGAGCGGCATCCATGTGGAAATGGAACTTGTAAAAACACCGTTGGATCCTATAACTGTCTGTGCTACCCAGGGTTTGAACTCACTCATAATAATGATTGCCTGG
Seq A exon
ACATAGATGAGTGCAGTTCCTTTTTTGGTCAGGTGTGCAGAAATGGACGTTGTTTTAATGAAATTGGTTCTTTCAAGTGTCTATGTAACGAAGGTTATGAACTTACCCCAGATGGCAAAAACTGTATAG
Seq C2 exon
ATACTCGCCAGAGCTTCTGCTTCACAAATTTTGAAAATGGAAAGTGTTCTGTACCCAAAGCTTTCAACACCACAAAAGCAAAATGCTGCTGTAGTAAGATGCCAGGAGAGGGCTGGGGGGACCCCTGTGAGCTGTGCCCCAAAGACGATGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829_MULTIEX1-41/55=40-44
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:
PF0764510=EGF_CA=WD(100=95.0),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.5),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0068312=TB=PU(86.4=73.1)
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:
CGAGCGGCATCCATGTGG
R:
TTCATCGTCTTTGGGGCACAG
Band lengths:
256-385
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)