HsaEX6092576 @ hg38
Exon Skipping
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8115515-8117291:-
Coord C1 exon
chr19:8117169-8117291
Coord A exon
chr19:8116674-8116799
Coord C2 exon
chr19:8115515-8115640
Length
126 bp
Sequences
Splice sites
3' ss Seq
CCCCAACCCTGCTCCCCCAGACG
3' ss Score
6.8
5' ss Seq
TTGGTGAGG
5' ss Score
6.9
Exon sequences
Seq C1 exon
ACATCAACGAATGCCGGGTCCAGAATGGTGGGTGTGACGTGCACTGTATTAACACTGAGGGCAGCTACCGGTGCAGCTGTGGGCAGGGCTACTCGCTGATGCCCGACGGAAGGGCATGTGCAG
Seq A exon
ACGTGGACGAGTGTGAAGAGAACCCCCGCGTTTGTGACCAAGGCCACTGCACCAACATGCCAGGGGGTCACCGCTGCCTGTGCTATGATGGCTTCATGGCCACGCCAGACATGAGGACATGTGTTG
Seq C2 exon
ATGTGGATGAGTGTGACCTGAACCCTCACATCTGCCTCCATGGGGACTGCGAGAACACGAAGGGTTCCTTTGTCTGCCACTGTCAGCTGGGCTACATGGTCAGGAAGGGGGCCACAGGCTGCTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449-'45-40,'45-39,47-40=AN
Average complexity
A_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:
PF146701=FXa_inhibition=WD(100=85.7),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.3),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:
ACATCAACGAATGCCGGGTC
R:
CCCCCTTCCTGACCATGTAGC
Band lengths:
234-360
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains