HsaEX0025077 @ hg38
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128271999-128274683:-
Coord C1 exon
chr5:128274567-128274683
Coord A exon
chr5:128273840-128273968
Coord C2 exon
chr5:128271999-128272118
Length
129 bp
Sequences
Splice sites
3' ss Seq
GCTTCTTGATGCTTTGCCAGACA
3' ss Score
3.08
5' ss Seq
AAGGTTAGT
5' ss Score
8.54
Exon sequences
Seq C1 exon
ACCTTGATGAATGTCAAACAAAGCAGCATAACTGCCAGTTCCTCTGTGTCAACACCCTGGGGGGGTTTACCTGTAAATGTCCACCTGGTTTCACACAGCATCACACTGCTTGTATCG
Seq A exon
ACAACAACGAATGTGGGTCTCAACCTTCGCTTTGTGGAGCAAAGGGAATCTGTCAAAACACTCCAGGCAGTTTCAGCTGTGAATGCCAAAGAGGGTTCTCTCTTGATGCCACCGGACTGAACTGTGAAG
Seq C2 exon
ATGTTGATGAATGTGATGGGAACCACAGGTGCCAACACGGCTGCCAGAACATCCTGGGTGGCTACAGATGTGGCTGCCCCCAAGGCTACATCCAGCACTACCAGTGGAATCAGTGTGTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-'96-116,'96-115,97-116=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=95.0),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
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGATGAATGTCAAACAAAGCAGCA
R:
CGACACACTGATTCCACTGGT
Band lengths:
234-363
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