HsaEX6092594 @ hg19
Exon Skipping
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:18794]
Coordinates
chr19:8130287-8138181:-
Coord C1 exon
chr19:8137947-8138181
Coord A exon
chr19:8136932-8137082
Coord C2 exon
chr19:8130287-8131144
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
ATGAGAATGAGTGTGCCCTGTCGCCCCCCACCTGCGGGAGCGCCTCCTGTCGCAACACTCTTGGTGGCTTCCGCTGCGTCTGCCCCTCTGGCTTTGACTTTGATCAGGCCCTCGGGGGCTGCCAGGAGGTGGATGAGTGCGCCGGACGGCGTGGCCCCTGTAGCTACAGCTGTGCCAACACGCCTGGTGGCTTCCTGTGCGGCTGTCCTCAAGGCTACTTCCGGGCTGGGCAAGG
Seq A exon
GCACTGTGTCTCCGGCCTGGGCTTCAGCCCCGGACCCCAGGACACCCCGGACAAAGAGGAGCTGCTCTCGTCTGAAGCCTGCTACGAATGCAAGATCAATGGCCTCTCCCCTCGGGACCGGCCACGACGCAGTGCCCACAGGGACCACCAG
Seq C2 exon
GTGAACCTGGCCACCCTTGACTCCGAGGCCCTGCTGACCTTGGGCCTGAACCTCTCACACCTGGGCCGGGCCGAGCGCATCCTGGAGCTCCGGCCGGCCCTGGAGGGTCTAGAGGGCCGGATCCGCTACGTCATCGTCCGCGGAAACGAGCAAGGTTTCTTTCGCATGCATCACCTCCGTGGCGTCAGCTCCCTGCAGCTGGGGCGGAGGCGGCCGGGGCCTGGAACCTACCGGCTGGAGGTGGTGAGCCACATGGCAGGACCCTGGGGTGTCCAGCCAGAGGGGCAGCCAGGGCCATGGGGCCAGGCCTTGAGGCTGAAGGTGCAGCTGCAGTTGCTTTAGTTGGGAGGAGCCTCAGTGGGCCCCAGCTGTCCAGAGAAGGGGGATTCTGGAACTGGGAAGGACTGATCCCCAGAAGCGATGGCTGACCAGATTGAACCCCGAAACTCAGGAAGAGTGAAATGCTACACGACAACCTCAGGCAAGCCCGGCCTCTGCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449-'60-62,'60-61,61-62=AN
Average complexity
A_S
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=51.9),PF0764510=EGF_CA=PU(92.3=45.6)
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:
CTCCTGTCGCAACACTCTTGG
R:
TGTGAGAGGTTCAGGCCCAAG
Band lengths:
251-402
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)