HsaEX0025101 @ hg38
Exon Skipping
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8094446-8096080:-
Coord C1 exon
chr19:8095964-8096080
Coord A exon
chr19:8095375-8095503
Coord C2 exon
chr19:8094446-8094565
Length
129 bp
Sequences
Splice sites
3' ss Seq
TGCCCATCTCCCCTCTACAGATT
3' ss Score
11.14
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
Exon sequences
Seq C1 exon
ACATTGACGAGTGTGACCGGCAGCCTTGTGGAAATGGGACCTGCAAGAACATCATTGGCTCCTACAACTGCCTCTGCTTCCCTGGCTTTGTGGTGACACACAATGGGGATTGTGTGG
Seq A exon
ATTTTGATGAGTGTACTACCCTGGTGGGGCAGGTGTGCCGATTTGGCCATTGCCTCAACACAGCTGGTTCCTTCCACTGCCTCTGCCAGGATGGCTTTGAGCTCACAGCTGATGGGAAGAACTGTGTGG
Seq C2 exon
ACACCAATGAGTGCCTCAGCCTTGCAGGAACCTGCCTACCCGGCACTTGCCAGAACCTCGAGGGCTCCTTCCGCTGCATCTGTCCCCCTGGCTTCCAGGTGCAGAGTGACCACTGCATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449-'73-67,'73-65,75-67
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:
PF062476=Plasmod_Pvs28=PD(0.1=0.0),PF0764510=EGF_CA=WD(100=95.0),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.5),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.1),PF0764510=EGF_CA=PU(0.1=0.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATTGACGAGTGTGACCGGC
R:
TGGTCACTCTGCACCTGGAAG
Band lengths:
228-357
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