HsaEX0025110 @ hg38
Exon Skipping
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8141940-8145938:-
Coord C1 exon
chr19:8145843-8145938
Coord A exon
chr19:8144877-8144972
Coord C2 exon
chr19:8141940-8142137
Length
96 bp
Sequences
Splice sites
3' ss Seq
TCACCCTCTCTCCTCCACAGCCA
3' ss Score
10.87
5' ss Seq
GAGGTACCA
5' ss Score
6.43
Exon sequences
Seq C1 exon
GGTCAGGGTGCAGTGTGAGCTGTATGAATGGGGGCACCTGCCGGGGGGCGTCCTGTCTGTGTCAGAAGGGCTACACAGGCACCGTGTGTGGGCAGC
Seq A exon
CCATCTGTGACCGCGGCTGCCACAATGGGGGTCGCTGCATTGGGCCCAACCGCTGCGCCTGTGTGTATGGCTTCATGGGACCTCAATGTGAGAGAG
Seq C2 exon
ATTACCGGACGGGACCCTGCTTTGGCCAAGTAGGCCCCGAGGGGTGCCAGCATCAGCTGACGGGCCTCGTGTGCACCAAGGCACTTTGCTGTGCCACTGTGGGCCGTGCCTGGGGCCTTCCATGTGAACTTTGCCCTGCACAGCCACACCCCTGCCGCCGCGGCTTCATCCCCAATATCCACACGGGGGCCTGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449_MULTIEX1-3/4=2-4
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:
NO
A:
NO
C2:
PF0068312=TB=WD(100=64.2),PF0764510=EGF_CA=PU(0.1=0.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCGTCCTGTCTGTGTCAGAAG
R:
AAAGTTCACATGGAAGGCCCC
Band lengths:
181-277
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Autistic and control brains
- Pre-implantation embryo development