HsaEX0025090 @ hg19
Exon Skipping
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:18794]
Coordinates
chr19:8183781-8188892:-
Coord C1 exon
chr19:8188668-8188892
Coord A exon
chr19:8188348-8188473
Coord C2 exon
chr19:8183781-8183906
Length
126 bp
Sequences
Splice sites
3' ss Seq
TTGATGCCCCTGTACTTCAGATG
3' ss Score
7.17
5' ss Seq
CAGGTAGGT
5' ss Score
10.28
Exon sequences
Seq C1 exon
ATGTGAGATTGGAACCATGTTTCCTGCGATGGGATGAGGATGAGTGTGGGGTCACCCTGCCTGGCAAGTACCGGATGGACGTCTGCTGCTGCTCCATCGGGGCCGTGTGGGGAGTCGAGTGCGAGGCCTGCCCGGATCCCGAGTCTCTGGAGTTCGCCAGCCTGTGCCCGCGGGGGCTGGGCTTCGCCAGCCGGGACTTCCTGTCTGGCCGACCATTCTATAAAG
Seq A exon
ATGTGAATGAATGCAAGGTGTTCCCTGGCCTCTGCACGCACGGTACCTGCAGAAACACGGTGGGCAGCTTCCACTGCGCCTGTGCGGGGGGCTTCGCCCTGGATGCCCAGGAACGGAACTGCACAG
Seq C2 exon
ACGTGGACGAGTGTGCAAGGGACCCGCTGCTCTGCCGGGGAGGCACTTGCACCAACACGGATGGGAGCTACAAGTGCCAGTGTCCCCCTGGGCATGAGCTGACGGCCAAGGGCACTGCCTGTGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449_MULTIEX1-13/43=12-15
Average complexity
C3
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=WD(100=55.3),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=WD(100=95.3),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:
CAAGTACCGGATGGACGTCTG
R:
GACACTGGCACTTGTAGCTCC
Band lengths:
245-371
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)