HsaEX6092580 @ hg38
Exon Skipping
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8106108-8109388:-
Coord C1 exon
chr19:8109227-8109388
Coord A exon
chr19:8108170-8108238
Coord C2 exon
chr19:8106108-8106233
Length
69 bp
Sequences
Splice sites
3' ss Seq
GAGCCTGTTTCCCTTTACAGCTG
3' ss Score
10.4
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
ACACTCGGGCCGGGAACTGTTTCCTGGAGACGCATGACCGAGGGGACAGTGGCATTTCCTGCAGTGCCGAGATCGGAGTTGGTGTCACCCGAGCTTCCTGCTGTTGCTCCCTGGGCCGGGCTTGGGGCAATCCCTGTGAGCTGTGCCCTATGGCCAACACCA
Seq A exon
CTGAGTACAGAACCCTGTGCCCGGGTGGTGAGGGCTTCCAGCCTAACCGCATCACTGTCATTCTGGAAG
Seq C2 exon
ACATCGACGAGTGCCAAGAGCTGCCAGGGCTGTGTCAGGGGGGTGACTGCGTCAACACGTTTGGCAGTTTCCAGTGTGAGTGCCCACCTGGCTACCACCTCAGTGAGCACACCCGCATCTGTGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449-'56-53,'56-52,57-53
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=PD(2.3=1.8),PF0068312=TB=PU(85.7=65.5)
A:
PF0068312=TB=PD(11.9=20.8),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
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:
CGAGATCGGAGTTGGTGTCAC
R:
ACTGGAAACTGCCAAACGTGT
Band lengths:
170-239
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains