HsaEX6092594 @ 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
chr19:8072048-8072198
Coord C2 exon
chr19:8065402-8066260
Length
151 bp
Sequences
Splice sites
3' ss Seq
CCCTGCCCATCCTGGCCCAGGCA
3' ss Score
6.88
5' ss Seq
CAGGTGACA
5' ss Score
5.49
Exon sequences
Seq C1 exon
ACCTGGACGAATGCACCTCCCGGCAGCACAACTGTCAGTTCCTCTGTGTCAACACTGTGGGCGCCTTCACCTGCCGCTGTCCGCCCGGCTTCACCCAGCACCACCAGGCCTGCTTCG
Seq A exon
GCACTGTGTCTCCGGCCTGGGCTTCAGCCCCGGACCCCAGGACACCCCGGACAAAGAGGAGCTGCTCTCGTCTGAAGCCTGCTACGAATGCAAGATCAATGGCCTCTCCCCTCGGGACCGGCCACGACGCAGTGCCCACAGGGACCACCAG
Seq C2 exon
GTGAACCTGGCCACCCTTGACTCCGAGGCCCTGCTGACCTTGGGCCTGAACCTCTCACACCTGGGCCGGGCCGAGCGCATCCTGGAGCTCCGGCCGGCCCTGGAGGGTCTAGAGGGCCGGATCCGCTACGTCATCGTCCGCGGAAACGAGCAAGGTTTCTTTCGCATGCATCACCTCCGTGGCGTCAGCTCCCTGCAGCTGGGGCGGAGGCGGCCGGGGCCTGGAACCTACCGGCTGGAGGTGGTGAGCCACATGGCAGGACCCTGGGGTGTCCAGCCAGAGGGGCAGCCAGGGCCATGGGGCCAGGCCTTGAGGCTGAAGGTGCAGCTGCAGTTGCTTTAGTTGGGAGGAGCCTCAGTGGGCCCCAGCTGTCCAGAGAAGGGGGATTCTGGAACTGGGAAGGACTGATCCCCAGAAGCGATGGCTGACCAGATTGAACCCCGAAACTCAGGAAGAGTGAAATGCTACACGACAACCTCAGGCAAGCCCGGCCTCTGCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449_MULTIEX2-4/4=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.333 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=PD(5.1=3.9)
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:
CCTCTGTGTCAACACTGTGGG
R:
GGAGGTGATGCATGCGAAAGA
Band lengths:
255-406
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains