HsaEX0025049 @ hg38
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128446481-128519368:-
Coord C1 exon
chr5:128519273-128519368
Coord A exon
chr5:128464724-128464921
Coord C2 exon
chr5:128446481-128446606
Length
198 bp
Sequences
Splice sites
3' ss Seq
TTTCTTCTCCCACATTCCAGATT
3' ss Score
9.14
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
CTGTCTGTGAAAATGGATGTCAGAATGGTGGACGTTGCATCGGACCCAACCGCTGTGCTTGTGTTTATGGGTTCACTGGTCCACAGTGTGAAAGAG
Seq A exon
ATTACAGGACAGGCCCGTGTTTCACTCAGGTCAACAACCAGATGTGCCAAGGGCAGCTGACAGGCATTGTCTGCACGAAGACTCTGTGCTGTGCCACCATTGGACGGGCGTGGGGCCATCCCTGTGAGATGTGTCCAGCCCAGCCTCAGCCCTGCCGACGGGGTTTCATCCCCAACATCCGCACTGGAGCTTGCCAAG
Seq C2 exon
ATGTTGATGAATGCCAGGCTATCCCAGGGATATGCCAAGGAGGAAACTGTATCAATACAGTGGGCTCTTTTGAATGCAGATGCCCTGCTGGTCACAAACAGAGTGAAACTACTCAGAAATGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829_CASSETTE5
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:
NO
A:
PF0068312=TB=WD(100=64.2),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
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTCTGTGAAAATGGATGTCAGA
R:
CACATTTCTGAGTAGTTTCACTCTGT
Band lengths:
218-416
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