HsaEX0025100 @ hg38
Exon Skipping
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8095964-8097006:-
Coord C1 exon
chr19:8096881-8097006
Coord A exon
chr19:8096444-8096569
Coord C2 exon
chr19:8095964-8096080
Length
126 bp
Sequences
Splice sites
3' ss Seq
CATGCTCTCTGCACCCCCAGGAC
3' ss Score
10.2
5' ss Seq
TGGGTGAGA
5' ss Score
6.04
Exon sequences
Seq C1 exon
ATGTCGATGAGTGTGGCAGCAGGGAGAGTCCCTGCCAGCAGAATGCTGACTGCATCAACATCCCCGGTAGCTACCGCTGCAAGTGCACCCGAGGGTACAAACTGTCGCCAGGCGGGGCTTGTGTGG
Seq A exon
GACGGAATGAGTGTCGGGAGATCCCGAATGTCTGTAGCCATGGTGACTGCATGGACACAGAAGGCAGCTACATGTGTCTGTGTCACCGTGGATTCCAGGCCTCTGCAGACCAGACCCTGTGCATGG
Seq C2 exon
ACATTGACGAGTGTGACCGGCAGCCTTGTGGAAATGGGACCTGCAAGAACATCATTGGCTCCTACAACTGCCTCTGCTTCCCTGGCTTTGTGGTGACACACAATGGGGATTGTGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449_CASSETTE3
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=95.3),PF062476=Plasmod_Pvs28=PU(22.2=81.4)
A:
PF062476=Plasmod_Pvs28=FE(35.0=100),PF0764510=EGF_CA=WD(100=93.0),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF062476=Plasmod_Pvs28=PD(0.1=0.0),PF0764510=EGF_CA=WD(100=95.0),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:
ATGTCGATGAGTGTGGCAGC
R:
ATCCCCATTGTGTGTCACCAC
Band lengths:
236-362
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