HsaEX0025071 @ hg38
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128289127-128290884:-
Coord C1 exon
chr5:128290732-128290884
Coord A exon
chr5:128289882-128289947
Coord C2 exon
chr5:128289127-128289252
Length
66 bp
Sequences
Splice sites
3' ss Seq
ATTTGTATTTTTCTTTGTAGTTG
3' ss Score
8.22
5' ss Seq
AAGGTACGC
5' ss Score
10.4
Exon sequences
Seq C1 exon
ATACTCGCCAGAGCTTCTGCTTCACAAATTTTGAAAATGGAAAGTGTTCTGTACCCAAAGCTTTCAACACCACAAAAGCAAAATGCTGCTGTAGTAAGATGCCAGGAGAGGGCTGGGGGGACCCCTGTGAGCTGTGCCCCAAAGACGATGAAG
Seq A exon
TTGCATTTCAGGATTTGTGTCCATATGGCCATGGAACTGTCCCTAGTCTTCATGATACACGTGAAG
Seq C2 exon
ATGTCAATGAGTGTCTTGAGAGCCCAGGCATTTGTTCAAATGGTCAATGTATCAACACCGACGGATCTTTTCGCTGTGAATGTCCAATGGGCTACAACCTTGACTACACTGGAGTACGCTGTGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-'82-100,'82-99,83-100
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:
PF0068312=TB=PU(86.4=73.1)
A:
PF0068312=TB=PD(11.4=21.7),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:
ACCCAAAGCTTTCAACACCACA
R:
TCACAGCGAAAAGATCCGTCG
Band lengths:
180-246
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