HsaEX0025062 @ hg38
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128311885-128318271:-
Coord C1 exon
chr5:128318149-128318271
Coord A exon
chr5:128312634-128312795
Coord C2 exon
chr5:128311885-128311953
Length
162 bp
Sequences
Splice sites
3' ss Seq
GCTCCTTTGTTGCTCTGCAGACA
3' ss Score
9.37
5' ss Seq
GCAGTAAGT
5' ss Score
9.07
Exon sequences
Seq C1 exon
ATATTGATGAGTGTGCAGATCCTATAAACTGTGTCAATGGCCTATGTGTCAACACGCCTGGTCGCTATGAGTGTAACTGCCCACCCGATTTTCAGTTGAACCCAACTGGTGTGGGTTGTGTTG
Seq A exon
ACAACCGTGTGGGCAACTGCTACCTGAAGTTTGGACCTCGAGGAGATGGGAGTCTGTCTTGCAACACCGAGATCGGGGTGGGCGTCAGTCGCTCTTCATGCTGCTGCTCTCTGGGAAAGGCCTGGGGAAACCCCTGTGAGACATGCCCCCCTGTCAATAGCA
Seq C2 exon
CTGAATATTACACCCTGTGTCCCGGAGGTGAAGGCTTCAGACCTAACCCCATCACAATCATTTTAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829_MULTIEX1-2/2=1-C2
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:
PF0764510=EGF_CA=WD(100=97.6)
A:
PF0068312=TB=PU(85.7=65.5)
C2:
PF0068312=TB=PD(11.9=20.8),PF0764510=EGF_CA=PU(0.1=0.0)
Main Skipping Isoform:
ENST00000508053fB15547
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATATTGATGAGTGTGCAGATCCT
R:
AAATGATTGTGATGGGGTTAGGTCT
Band lengths:
186-348
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