HsaEX0025037 @ hg38
Exon Skipping
Gene
ENSG00000166147 | FBN1
Description
fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603]
Coordinates
chr15:48465790-48468534:-
Coord C1 exon
chr15:48468412-48468534
Coord A exon
chr15:48467938-48468102
Coord C2 exon
chr15:48465790-48465858
Length
165 bp
Sequences
Splice sites
3' ss Seq
TGTTTGTATATGGTAAATAGATA
3' ss Score
1.78
5' ss Seq
CATGTAAGT
5' ss Score
8.31
Exon sequences
Seq C1 exon
ATGTGAATGAATGCCTGGATCCAACCACGTGCATCAGTGGGAACTGTGTCAACACTCCAGGCAGCTATATCTGTGACTGCCCACCTGATTTTGAACTGAACCCAACTCGAGTTGGCTGTGTTG
Seq A exon
ATACCCGCTCTGGAAATTGCTATTTGGATATTCGACCTCGAGGAGACAATGGAGATACAGCCTGCAGCAATGAAATTGGAGTTGGTGTTTCCAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTGAACACAT
Seq C2 exon
CCGAGTACAAAATTCTTTGTCCTGGAGGGGAAGGTTTCCGACCAAATCCTATCACCGTTATATTGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166147-'64-56,'64-54,65-56=AN
Average complexity
A_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=PU(85.4=97.6)
A:
PF0764510=EGF_CA=PD(12.5=10.7),PF0068312=TB=PU(85.7=64.3)
C2:
PF0068312=TB=PD(11.9=20.8),PF0764510=EGF_CA=PU(0.1=0.0)
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:
ATGTGAATGAATGCCTGGATCCA
R:
ATATAACGGTGATAGGATTTGGTCGG
Band lengths:
186-351
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