HsaEX0025020 @ hg38
Exon Skipping
Gene
ENSG00000166147 | FBN1
Description
fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603]
Coordinates
chr15:48427567-48428471:-
Coord C1 exon
chr15:48428346-48428471
Coord A exon
chr15:48427882-48427943
Coord C2 exon
chr15:48427567-48427773
Length
62 bp
Sequences
Splice sites
3' ss Seq
GTCTTATTTGTTTCCCTCAGACG
3' ss Score
9.52
5' ss Seq
AGGGTAAAG
5' ss Score
5.2
Exon sequences
Seq C1 exon
ATGAGAATGAATGTCAGACGAAGCCAGGGATCTGTGAGAATGGGCGCTGCCTCAACACCCGTGGGAGCTACACCTGTGAGTGTAATGATGGGTTTACCGCCAGCCCCAACCAGGACGAGTGCCTTG
Seq A exon
ACGTCATCCTTTCTCTTTTACTGCTGTCTCCAGCTTTCCCCTCTTGCTTCTTCTCACCCAGG
Seq C2 exon
ACAATCGGGAAGGGTACTGCTTCACAGAGGTGCTACAAAACATGTGTCAGATCGGCTCCAGCAACAGGAACCCCGTCACCAAATCGGAATGCTGCTGTGACGGAGGGAGAGGCTGGGGTCCCCACTGTGAGATCTGCCCTTTCCAGGGGACTGTGGCTTTCAAGAAACTCTGTCCCCATGGCCGAGGATTCATGACCAATGGAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166147_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.088
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=95.3)
A:
NO
C2:
PF0068312=TB=WD(100=62.9),PF0764510=EGF_CA=PU(0.1=0.0)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAATGTCAGACGAAGCCAGGG
R:
TGAAGCAGTACCCTTCCCGAT
Band lengths:
142-204
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development