HsaEX6099709 @ hg38
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128530595-128538042:-
Coord C1 exon
chr5:128537350-128538042
Coord A exon
chr5:128536402-128536484
Coord C2 exon
chr5:128530595-128530693
Length
83 bp
Sequences
Splice sites
3' ss Seq
ACCGCGCTTGTCCATCACAGGCC
3' ss Score
8.61
5' ss Seq
TCCGTGAGT
5' ss Score
8.93
Exon sequences
Seq C1 exon
GCTGCACCTCCGCCGCGCCTCGCCGCTCACTGCGCTAGACCCGGCGCCCCGCGTCTCGCTTCGCGGGCAGTCAGGGGGCCGGCGCTCTGTCGAGGTCTCCAGCTAGAGCAGGGAGCCCGAGCCCGAGGGAGTCCCCGGAGCCGACGAAGGGCTTATTAGACCCTGACTCTTTTCTGAGGCGCGCAGATTTTGTCTTTGATCACTCCCTCTCCGCGGGTCTACGGCCGCGCGCTTTCGGCGCCGGCGATGGGGAGAAGACGGAGGCTGTGTCTCCAGCTCTACTTCCTGTGGCTGGGCTGTGTGGTGCTCTGGGCGCAGGGCACGGCCGGCCAGCCTCAGCCTCCTCCGCCCAAGCCGCCCCGGCCCCAGCCGCCGCCGCAACAGGTTCGGTCCGCTACAGCAGGCTCTGAAGGCGGGTTTCTAGCGCCCGAGTATCGCGAGGAGGGTGCCGCAGTGGCCAGCCGCGTCCGCCGGCGAGGACAGCAGGACGTGCTCCGAGG
Seq A exon
GCCCAACGTGTGCGGCTCCAGATTCCACTCCTACTGCTGCCCTGGATGGAAGACGCTCCCTGGAGGAAACCAGTGCATTGTCC
Seq C2 exon
CGATTTGTAGAAATAGTTGTGGAGATGGATTTTGTTCCCGTCCTAACATGTGTACTTGTTCCAGTGGGCAAATATCATCAACCTGTGGATCAAAATCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-'7-12,'7-11,8-12
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.399 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
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:
GCTCTGAAGGCGGGTTTCTAG
R:
TGCCCACTGGAACAAGTACAC
Band lengths:
167-250
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains