HsaEX0025022 @ hg38
Exon Skipping
Gene
ENSG00000166147 | FBN1
Description
fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603]
Coordinates
chr15:48412569-48420806:-
Coord C1 exon
chr15:48420687-48420806
Coord A exon
chr15:48415536-48415767
Coord C2 exon
chr15:48412569-48412743
Length
232 bp
Sequences
Splice sites
3' ss Seq
GCTTCTTATTTTGCCTGCAGATG
3' ss Score
10.36
5' ss Seq
AGGGTAAGC
5' ss Score
9.04
Exon sequences
Seq C1 exon
ACGTGGACGAGTGTGAGGGTAACCACCGCTGCCAGCATGGCTGCCAGAACATCATTGGGGGCTACAGGTGCAGCTGCCCCCAGGGCTACCTCCAGCACTACCAGTGGAACCAGTGTGTTG
Seq A exon
ATGAAAACGAATGCCTCAGCGCTCACATCTGCGGAGGAGCCTCCTGTCACAACACCCTGGGGAGCTACAAGTGCATGTGTCCCGCCGGCTTCCAGTATGAACAGTTCAGTGGAGGATGCCAAGACATCAATGAATGTGGCTCTGCGCAGGCCCCCTGCAGCTATGGCTGTTCCAATACCGAGGGCGGTTACCTGTGTGGCTGTCCACCTGGTTACTTCCGCATAGGCCAAGG
Seq C2 exon
GCACTGTGTTTCTGGAATGGGCATGGGCCGAGGAAACCCAGAGCCACCTGTCAGTGGTGAAATGGATGACAATTCACTCTCCCCAGAGGCTTGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCCTCCAATATCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166147-'102-93,'102-92,105-93
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=0.441
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=51.3),PF0764510=EGF_CA=PU(92.3=46.2)
C2:
PF0764510=EGF_CA=PD(5.1=3.4)
Main Skipping Isoform:
ENST00000316623fB15542
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGACGAGTGTGAGGGTAAC
R:
TCGATATTGGAGGCATCAGTTTCG
Band lengths:
292-524
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