HsaEX0025056 @ hg38
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128334719-128335577:-
Coord C1 exon
chr5:128335455-128335577
Coord A exon
chr5:128335170-128335295
Coord C2 exon
chr5:128334719-128334844
Length
126 bp
Sequences
Splice sites
3' ss Seq
TGCTAATTTTGTATCATCAGACA
3' ss Score
5.17
5' ss Seq
TTGGTGGGT
5' ss Score
4.3
Exon sequences
Seq C1 exon
ATATTGATGAATGTATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATTCAGAGGGAAGCTACGAATGCAGCTGCAGTGAGGGTTATGCCCTGATGCCAGATGGGAGATCGTGTGCAG
Seq A exon
ACATTGATGAATGTGAAAACAATCCTGATATCTGTGATGGCGGCCAGTGTACCAACATTCCTGGAGAGTATCGCTGCCTCTGCTATGATGGCTTCATGGCTTCCATGGACATGAAAACATGCATTG
Seq C2 exon
ATGTCAATGAATGTGACCTAAATTCAAATATCTGCATGTTTGGGGAATGTGAGAACACAAAGGGATCCTTCATTTGCCACTGTCAGCTGGGTTACTCAGTGAAGAAGGGGACCACAGGATGTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-'57-75,'57-74,58-75=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:
PF146701=FXa_inhibition=WD(100=85.7),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:
TGAATGTATGATAATGAACGGAGGCT
R:
CTGTACATCCTGTGGTCCCCT
Band lengths:
242-368
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