HsaEX6099725 @ hg38
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128335988-128339061:-
Coord C1 exon
chr5:128338933-128339061
Coord A exon
chr5:128337997-128338122
Coord C2 exon
chr5:128335988-128336113
Length
126 bp
Sequences
Splice sites
3' ss Seq
CTCACGTTTTTACCTTTCAGACA
3' ss Score
9.36
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
Exon sequences
Seq C1 exon
ACATCGACGAGTGCAGGATTTCTCCTGACCTCTGTGGCAGTGGAATCTGCGTCAATACACCGGGCAGCTTTGAGTGCGAGTGCTTCGAAGGCTATGAAAGTGGCTTCATGATGATGAAGAACTGCATGG
Seq A exon
ACATTGACGAATGTGAACGTAACCCTCTCCTTTGTAGGGGTGGCACCTGTGTGAACACTGAGGGCAGCTTTCAGTGTGACTGCCCACTGGGACACGAGCTGTCACCATCCCGTGAGGACTGTGTGG
Seq C2 exon
ATATTAATGAATGCTCCCTGAGTGACAATCTCTGCAGAAATGGAAAATGTGTGAACATGATTGGAACCTATCAGTGCTCTTGCAATCCTGGATATCAGGCTACGCCAGACCGCCAGGGCTGTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-'54-71,'54-69,55-71
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=95.5),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.3)
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:
CGACGAGTGCAGGATTTCTCC
R:
TACAGCCCTGGCGGTCTG
Band lengths:
248-374
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains