HsaEX6092584 @ hg38
Exon Skipping
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8096444-8097414:-
Coord C1 exon
chr19:8097289-8097414
Coord A exon
chr19:8096881-8097006
Coord C2 exon
chr19:8096444-8096569
Length
126 bp
Sequences
Splice sites
3' ss Seq
CATTTGCTGTATTTTCCCAGATG
3' ss Score
7.72
5' ss Seq
TGGGTGAGC
5' ss Score
7.23
Exon sequences
Seq C1 exon
ACATTGATGAGTGTGGGGAGATCCCCGCCATCTGTGCCAATGGCATCTGCATAAACCAGATCGGGAGTTTCCGCTGCGAGTGCCCCGCAGGCTTCAACTACAACAGCATCCTGCTGGCTTGTGAAG
Seq A exon
ATGTCGATGAGTGTGGCAGCAGGGAGAGTCCCTGCCAGCAGAATGCTGACTGCATCAACATCCCCGGTAGCTACCGCTGCAAGTGCACCCGAGGGTACAAACTGTCGCCAGGCGGGGCTTGTGTGG
Seq C2 exon
GACGGAATGAGTGTCGGGAGATCCCGAATGTCTGTAGCCATGGTGACTGCATGGACACAGAAGGCAGCTACATGTGTCTGTGTCACCGTGGATTCCAGGCCTCTGCAGACCAGACCCTGTGCATGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449-'66-63,'66-62,69-63=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:
PF0764510=EGF_CA=WD(100=95.3),PF062476=Plasmod_Pvs28=PU(29.2=81.4),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.3),PF062476=Plasmod_Pvs28=PU(22.2=81.4)
C2:
PF062476=Plasmod_Pvs28=FE(35.0=100),PF0764510=EGF_CA=WD(100=93.0),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:
TTGATGAGTGTGGGGAGATCC
R:
ACAGGGTCTGGTCTGCAGAG
Band lengths:
243-369
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains