HsaEX0025097 @ hg38
Exon Skipping
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8108170-8109753:-
Coord C1 exon
chr19:8109631-8109753
Coord A exon
chr19:8109227-8109388
Coord C2 exon
chr19:8108170-8108238
Length
162 bp
Sequences
Splice sites
3' ss Seq
ATCCCCTTCTGCCTGTTCAGACA
3' ss Score
7.69
5' ss Seq
CCAGTGAGT
5' ss Score
8.28
Exon sequences
Seq C1 exon
ACATCAACGAGTGTGCAGACCCAGTAAACTGCATCAACGGCGTGTGCATTAACACCCCCGGCAGCTACCTCTGCAGCTGCCCCCAGGATTTTGAGCTGAACCCCAGCGGAGTGGGCTGCGTGG
Seq A exon
ACACTCGGGCCGGGAACTGTTTCCTGGAGACGCATGACCGAGGGGACAGTGGCATTTCCTGCAGTGCCGAGATCGGAGTTGGTGTCACCCGAGCTTCCTGCTGTTGCTCCCTGGGCCGGGCTTGGGGCAATCCCTGTGAGCTGTGCCCTATGGCCAACACCA
Seq C2 exon
CTGAGTACAGAACCCTGTGCCCGGGTGGTGAGGGCTTCCAGCCTAACCGCATCACTGTCATTCTGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449-'55-52,'55-51,56-52
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=PU(95.3=97.6)
A:
PF0764510=EGF_CA=PD(2.3=1.8),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:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACATCAACGAGTGTGCAGACC
R:
CCAGAATGACAGTGATGCGGT
Band lengths:
189-351
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