HsaEX6092582 @ hg38
Exon Skipping
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8102724-8106233:-
Coord C1 exon
chr19:8106108-8106233
Coord A exon
chr19:8103562-8103687
Coord C2 exon
chr19:8102724-8102873
Length
126 bp
Sequences
Splice sites
3' ss Seq
CACCCCTTCTTTCCCTGCAGATA
3' ss Score
13.61
5' ss Seq
TGGGTAAGA
5' ss Score
8.91
Exon sequences
Seq C1 exon
ACATCGACGAGTGCCAAGAGCTGCCAGGGCTGTGTCAGGGGGGTGACTGCGTCAACACGTTTGGCAGTTTCCAGTGTGAGTGCCCACCTGGCTACCACCTCAGTGAGCACACCCGCATCTGTGAGG
Seq A exon
ATATTGACGAATGCTCCACACACTCCGGCATCTGTGGCCCTGGCACCTGCTACAACACCCTGGGGAACTACACCTGTGTCTGCCCTGCAGAGTACCTCCAAGTCAATGGTGGCAACAACTGCATGG
Seq C2 exon
ATATGAGGAAGAGTGTCTGCTTCCGGCACTATAACGGCACATGTCAAAATGAGCTGGCCTTCAACGTGACCCGGAAAATGTGTTGCTGCTCCTACAACATTGGCCAGGCCTGGAATAGACCCTGTGAGGCCTGCCCCACTCCCATCAGTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449-'59-57,'59-56,61-57
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),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.3)
C2:
PF0068312=TB=PU(86.4=74.5)
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:
CATCGACGAGTGCCAAGAGC
R:
AGGCCTCACAGGGTCTATTCC
Band lengths:
257-383
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains