Special

HsaEX0025083 @ hg19

Exon Skipping

Gene
Description
fibrillin 3 [Source:HGNC Symbol;Acc:18794]
Coordinates
chr19:8136932-8140074:-
Coord C1 exon
chr19:8139955-8140074
Coord A exon
chr19:8137947-8138181
Coord C2 exon
chr19:8136932-8137082
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
ATGTGAATGAATGTGATGGGCCCCACCGCTGCCAGCATGGCTGTCAGAACCAGCTAGGGGGCTACCGCTGCAGCTGCCCCCAGGGTTTCACCCAGCACTCCCAGTGGGCCCAGTGTGTGG
Seq A exon
ATGAGAATGAGTGTGCCCTGTCGCCCCCCACCTGCGGGAGCGCCTCCTGTCGCAACACTCTTGGTGGCTTCCGCTGCGTCTGCCCCTCTGGCTTTGACTTTGATCAGGCCCTCGGGGGCTGCCAGGAGGTGGATGAGTGCGCCGGACGGCGTGGCCCCTGTAGCTACAGCTGTGCCAACACGCCTGGTGGCTTCCTGTGCGGCTGTCCTCAAGGCTACTTCCGGGCTGGGCAAGG
Seq C2 exon
GCACTGTGTCTCCGGCCTGGGCTTCAGCCCCGGACCCCAGGACACCCCGGACAAAGAGGAGCTGCTCTCGTCTGAAGCCTGCTACGAATGCAAGATCAATGGCCTCTCCCCTCGGGACCGGCCACGACGCAGTGCCCACAGGGACCACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449-'59-61,'59-60,60-61
Average complexity
S
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=0.333
Domain overlap (PFAM):

C1:
PF0764510=EGF_CA=WD(100=95.1),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:
PF0764510=EGF_CA=PD(5.1=3.9)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAATGAATGTGATGGGCCCC
R:
CTGGTGGTCCCTGTGGGC
Band lengths:
268-503
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