HsaEX0025064 @ hg38
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128309247-128311425:-
Coord C1 exon
chr5:128311300-128311425
Coord A exon
chr5:128309983-128310108
Coord C2 exon
chr5:128309247-128309399
Length
126 bp
Sequences
Splice sites
3' ss Seq
GATATTCTTGCCTACTCTAGATA
3' ss Score
7.34
5' ss Seq
TGGGTAGGT
5' ss Score
6.86
Exon sequences
Seq C1 exon
ACATTGACGAATGCCAGGAGTTACCAGGTCTCTGCCAGGGTGGAAACTGCATCAACACTTTTGGGAGCTTCCAGTGTGAGTGCCCACAAGGCTACTACCTCAGCGAGGATACCCGCATCTGTGAAG
Seq A exon
ATATTGATGAGTGTTTTGCACATCCTGGTGTGTGTGGGCCTGGGACCTGCTATAACACCCTGGGAAATTACACCTGCATTTGCCCACCTGAGTACATGCAGGTCAATGGAGGCCACAACTGCATGG
Seq C2 exon
ACATGAGAAAAAGCTTTTGCTACCGAAGCTATAATGGAACCACTTGTGAGAATGAGTTGCCTTTCAATGTGACAAAAAGGATGTGCTGCTGCACATATAATGTGGGCAAAGCCTGGAACAAACCTTGTGAACCATGCCCAACTCCAGGAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-'71-86,'71-85,72-86
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=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.3)
C2:
PF0068312=TB=PU(86.4=73.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGAGTTACCAGGTCTCTGCC
R:
GGAGTTGGGCATGGTTCACAA
Band lengths:
256-382
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