HsaEX0025087 @ hg38
Exon Skipping
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8125892-8126605:-
Coord C1 exon
chr19:8126468-8126605
Coord A exon
chr19:8126297-8126347
Coord C2 exon
chr19:8125892-8126017
Length
51 bp
Sequences
Splice sites
3' ss Seq
TCTTGTTCTCCCAGTTGCAGACC
3' ss Score
4.6
5' ss Seq
ATGGTAACT
5' ss Score
6.06
Exon sequences
Seq C1 exon
ACAGCACCAAGGGCACCTGCTGGCTGAAGATCCAGGAGAGCCGCTGTGAGGTGAACCTTCAGGGAGCCAGCCTGCGGTCTGAGTGCTGCGCCACCCTCGGGGCAGCCTGGGGGAGCCCCTGCGAACGCTGCGAGATCG
Seq A exon
ACCCTGCCTGTGCCCGGGGCTTTGCCCGGATGACGGGTGTCACCTGCGATG
Seq C2 exon
ATGTGAACGAGTGTGAGTCCTTCCCGGGAGTCTGTCCCAACGGGCGTTGCGTCAACACTGCTGGGTCTTTCCGCTGTGAGTGTCCAGAGGGCCTGATGCTGGACGCCTCAGGCCGGCTGTGCGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449-'31-30,'31-29,32-30=AN
Average complexity
A_C1
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:
PF0068312=TB=PU(80.5=70.2)
A:
PF0068312=TB=PD(17.1=38.9),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.3)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGCTGAAGATCCAGGAGAGC
R:
GGGAAGGACTCACACTCGTTC
Band lengths:
143-194
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