HsaEX6092591 @ hg38
Exon Skipping
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8081003-8083372:-
Coord C1 exon
chr19:8083247-8083372
Coord A exon
chr19:8081358-8081480
Coord C2 exon
chr19:8081003-8081119
Length
123 bp
Sequences
Splice sites
3' ss Seq
CCCACGCTGTCCTTCCCCAGATA
3' ss Score
10.03
5' ss Seq
AAGGTGATG
5' ss Score
5.22
Exon sequences
Seq C1 exon
ATGTAGATGAATGCCGTATGCTTGCTCACCTGTGTGCTCATGGGGAGTGCATCAACAGCCTTGGCTCCTTCCGCTGCCACTGTCAGGCCGGGTACACACCGGATGCTACTGCTACTACCTGCCTGG
Seq A exon
ATATGGATGAGTGCAGCCAGGTCCCCAAGCCATGTACCTTCCTCTGCAAAAACACGAAGGGCAGTTTCCTGTGCAGCTGTCCCCGAGGCTACCTGCTGGAGGAGGATGGCAGGACCTGCAAAG
Seq C2 exon
ACCTGGACGAATGCACCTCCCGGCAGCACAACTGTCAGTTCCTCTGTGTCAACACTGTGGGCGCCTTCACCTGCCGCTGTCCGCCCGGCTTCACCCAGCACCACCAGGCCTGCTTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449-'91-83,'91-82,93-83=AN
Average complexity
A_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:
PF0764510=EGF_CA=WD(100=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.2),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.0),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:
ATGTAGATGAATGCCGTATGCT
R:
GAAGCAGGCCTGGTGGTG
Band lengths:
242-365
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains