HsaEX0025061 @ hg38
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128312634-128319001:-
Coord C1 exon
chr5:128318879-128319001
Coord A exon
chr5:128318149-128318271
Coord C2 exon
chr5:128312634-128312795
Length
123 bp
Sequences
Splice sites
3' ss Seq
ATTTTAAATGCTTCTCCTAGATA
3' ss Score
5.34
5' ss Seq
TTGGTAAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
ATATTGATGAATGCTCCTTCCAAAACATTTGTGTCTTTGGAACATGTAATAACCTGCCTGGAATGTTTCATTGCATCTGCGATGATGGTTATGAATTGGACAGAACAGGAGGGAACTGTACAG
Seq A exon
ATATTGATGAGTGTGCAGATCCTATAAACTGTGTCAATGGCCTATGTGTCAACACGCCTGGTCGCTATGAGTGTAACTGCCCACCCGATTTTCAGTTGAACCCAACTGGTGTGGGTTGTGTTG
Seq C2 exon
ACAACCGTGTGGGCAACTGCTACCTGAAGTTTGGACCTCGAGGAGATGGGAGTCTGTCTTGCAACACCGAGATCGGGGTGGGCGTCAGTCGCTCTTCATGCTGCTGCTCTCTGGGAAAGGCCTGGGGAAACCCCTGTGAGACATGCCCCCCTGTCAATAGCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-'66-82,'66-80,67-82
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=95.2),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=97.6)
C2:
PF0068312=TB=PU(85.7=65.5)
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:
TGCTCCTTCCAAAACATTTGTGT
R:
GCATGTCTCACAGGGGTTTCC
Band lengths:
258-381
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