HsaEX0025104 @ hg38
Exon Skipping
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8088060-8091590:-
Coord C1 exon
chr19:8091465-8091590
Coord A exon
chr19:8090099-8090251
Coord C2 exon
chr19:8088060-8088179
Length
153 bp
Sequences
Splice sites
3' ss Seq
ATGGAGCCCCCACCCCACAGACA
3' ss Score
4.97
5' ss Seq
GCGGTGAGT
5' ss Score
10.49
Exon sequences
Seq C1 exon
ATATCGACGAGTGCTCAGAGGAGCCCAACCTCTGCCTCTTTGGCACCTGTACCAACAGCCCTGGGAGCTTCCAGTGCCTCTGCCCACCTGGCTTTGTCCTCTCTGACAATGGGCACCGTTGCTTTG
Seq A exon
ACACACGGCAGAGTTTCTGCTTCACCCGTTTTGAGGCTGGGAAGTGCTCGGTGCCCAAAGCTTTCAACACCACCAAGACCCGCTGCTGCTGCAGTAAGAGGCCTGGGGAGGGCTGGGGAGACCCCTGCGAACTGTGTCCCCAGGAGGGCAGCG
Seq C2 exon
ACACAGACGAGTGCTCTGTCGGCCACCCCTGTGGGCAAGGGACATGCACCAATGTCATCGGAGGCTTCGAATGTGCCTGTGCTGACGGCTTTGAGCCTGGCCTCATGATGACCTGCGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449_MULTIEX4-4/7=3-7
Average complexity
C2*
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)
A:
PF0068312=TB=PU(86.4=73.1)
C2:
PF0764510=EGF_CA=WD(100=95.1),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:
ATCGACGAGTGCTCAGAGGAG
R:
CTCGCAGGTCATCATGAGGC
Band lengths:
243-396
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