HsaEX0025039 @ hg38
Exon Skipping
Gene
ENSG00000166147 | FBN1
Description
fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603]
Coordinates
chr15:48463899-48465858:-
Coord C1 exon
chr15:48465790-48465858
Coord A exon
chr15:48465568-48465693
Coord C2 exon
chr15:48463899-48464021
Length
126 bp
Sequences
Splice sites
3' ss Seq
CTTTGTTTTGATTTTGATAGATA
3' ss Score
7.35
5' ss Seq
ATGGTAAAT
5' ss Score
6.41
Exon sequences
Seq C1 exon
CCGAGTACAAAATTCTTTGTCCTGGAGGGGAAGGTTTCCGACCAAATCCTATCACCGTTATATTGGAAG
Seq A exon
ATATTGATGAGTGCCAGGAGCTACCAGGGCTGTGCCAAGGAGGAAAATGTATCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGATG
Seq C2 exon
ATGTGAATGAATGTGAGACTCCTGGAATCTGTGGTCCAGGGACATGTTACAACACCGTTGGCAACTACACCTGTATCTGTCCTCCAGACTACATGCAAGTGAATGGGGGAAATAATTGCATGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166147-'66-60,'66-58,68-60
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0068312=TB=PD(11.9=20.8),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=PU(95.2=97.6)
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:
TCTTTGTCCTGGAGGGGAAGG
R:
CCATGCAATTATTTCCCCCATTCAC
Band lengths:
179-305
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