HsaEX0025083 @ hg38
Exon Skipping
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8065402-8081119:-
Coord C1 exon
chr19:8081003-8081119
Coord A exon
chr19:8073063-8073297
Coord C2 exon
chr19:8065402-8066260
Length
235 bp
Sequences
Splice sites
3' ss Seq
CTCCTCCTTTCCTCCCACAGATG
3' ss Score
13.55
5' ss Seq
AGGGTGAGA
5' ss Score
6.65
Exon sequences
Seq C1 exon
ACCTGGACGAATGCACCTCCCGGCAGCACAACTGTCAGTTCCTCTGTGTCAACACTGTGGGCGCCTTCACCTGCCGCTGTCCGCCCGGCTTCACCCAGCACCACCAGGCCTGCTTCG
Seq A exon
ATGAGAATGAGTGTGCCCTGTCGCCCCCCACCTGCGGGAGCGCCTCCTGTCGCAACACTCTTGGTGGCTTCCGCTGCGTCTGCCCCTCTGGCTTTGACTTTGATCAGGCCCTCGGGGGCTGCCAGGAGGTGGATGAGTGCGCCGGACGGCGTGGCCCCTGTAGCTACAGCTGTGCCAACACGCCTGGTGGCTTCCTGTGCGGCTGTCCTCAAGGCTACTTCCGGGCTGGGCAAGG
Seq C2 exon
GTGAACCTGGCCACCCTTGACTCCGAGGCCCTGCTGACCTTGGGCCTGAACCTCTCACACCTGGGCCGGGCCGAGCGCATCCTGGAGCTCCGGCCGGCCCTGGAGGGTCTAGAGGGCCGGATCCGCTACGTCATCGTCCGCGGAAACGAGCAAGGTTTCTTTCGCATGCATCACCTCCGTGGCGTCAGCTCCCTGCAGCTGGGGCGGAGGCGGCCGGGGCCTGGAACCTACCGGCTGGAGGTGGTGAGCCACATGGCAGGACCCTGGGGTGTCCAGCCAGAGGGGCAGCCAGGGCCATGGGGCCAGGCCTTGAGGCTGAAGGTGCAGCTGCAGTTGCTTTAGTTGGGAGGAGCCTCAGTGGGCCCCAGCTGTCCAGAGAAGGGGGATTCTGGAACTGGGAAGGACTGATCCCCAGAAGCGATGGCTGACCAGATTGAACCCCGAAACTCAGGAAGAGTGAAATGCTACACGACAACCTCAGGCAAGCCCGGCCTCTGCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449_MULTIEX2-3/4=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.088
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=95.0),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=51.9),PF0764510=EGF_CA=PU(92.3=45.6)
C2:
NO
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:
ACCTGGACGAATGCACCTCC
R:
GGAGGTGATGCATGCGAAAGA
Band lengths:
295-530
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