HsaEX0025031 @ hg38
Exon Skipping
Gene
ENSG00000166147 | FBN1
Description
fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603]
Coordinates
chr15:48485374-48487437:-
Coord C1 exon
chr15:48487312-48487437
Coord A exon
chr15:48487075-48487200
Coord C2 exon
chr15:48485374-48485496
Length
126 bp
Sequences
Splice sites
3' ss Seq
TCTTCTTATTTTCCCGACAGACA
3' ss Score
10.23
5' ss Seq
TTGGTAAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
ATATTGATGAGTGTCAGAGAGATCCTCTCCTATGCCGAGGTGGTGTTTGCCATAACACAGAGGGAAGTTACCGCTGTGAATGCCCGCCTGGCCATCAGCTGTCCCCCAACATCTCCGCGTGTATCG
Seq A exon
ACATCAATGAATGTGAGCTGAGTGCACACCTGTGCCCCAATGGCCGTTGCGTGAACCTCATAGGGAAGTATCAGTGTGCCTGCAACCCTGGCTACCATTCAACTCCCGATAGGCTATTTTGTGTTG
Seq C2 exon
ACATTGATGAATGCAGCATAATGAATGGTGGTTGTGAAACCTTCTGCACAAACTCTGAAGGCAGCTATGAATGTAGCTGTCAGCCGGGATTTGCACTAATGCCTGACCAGAGATCATGCACCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166147-'50-46,'50-45,51-46
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.3)
C2:
PF146701=FXa_inhibition=WD(100=85.7),PF0764510=EGF_CA=PU(0.1=0.0)
Main Skipping Isoform:
NA
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:
TGATGAGTGTCAGAGAGATCCTC
R:
GTGCATGATCTCTGGTCAGGC
Band lengths:
243-369
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