HsaEX6092568 @ hg38
Exon Skipping
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8136388-8138564:-
Coord C1 exon
chr19:8138412-8138564
Coord A exon
chr19:8138141-8138323
Coord C2 exon
chr19:8136388-8136531
Length
183 bp
Sequences
Splice sites
3' ss Seq
TCAACCCTGCTTCCTTGCAGATG
3' ss Score
10.43
5' ss Seq
TTGGTGAGG
5' ss Score
6.9
Exon sequences
Seq C1 exon
ACTACCGGGCCGGCGCCTGCTTCTCAGTGCTTTTCGGGGGCCGCTGTGCTGGAGACCTCGCCGGCCACTACACTCGCAGGCAGTGCTGCTGTGACAGGGGCAGGTGCTGGGCAGCTGGCCCGGTCCCTGAGCTGTGTCCTCCTCGGGGCTCCA
Seq A exon
ATGAATTCCAGCAACTGTGCGCCCAGCGGCTGCCGCTGCTACCCGGCCACCCTGGCCTCTTCCCTGGCCTCCTGGGCTTCGGATCCAATGGCATGGGTCCCCCTCTTGGGCCAGCGCGACTCAACCCCCATGGCTCTGATGCGCGTGGGATCCCCAGCCTGGGCCCTGGCAACTCTAATATTG
Seq C2 exon
GCACTGCTACCCTGAACCAGACCATTGACATCTGCCGACACTTCACCAACCTGTGTCTGAATGGCCGCTGCCTGCCCACGCCTTCCAGCTACCGCTGCGAGTGTAACGTGGGCTACACCCAGGACGTGCGCGGCGAGTGCATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449-'15-15,'15-14,17-15
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=0.272 C2=0.000
Domain overlap (PFAM):
C1:
PF0068312=TB=PU(86.4=73.1)
A:
PF0068312=TB=PD(11.4=8.1)
C2:
PF0000822=EGF=WD(100=59.2),PF0764510=EGF_CA=PU(0.1=0.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCTTCTCAGTGCTTTTCGGG
R:
GTAGCCCACGTTACACTCGC
Band lengths:
252-435
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains