HsaEX0025054 @ hg38
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128395122-128446606:-
Coord C1 exon
chr5:128446481-128446606
Coord A exon
chr5:128408674-128408799
Coord C2 exon
chr5:128395122-128395274
Length
126 bp
Sequences
Splice sites
3' ss Seq
CTCCTTCTTCCCTTGATTAGACA
3' ss Score
6.63
5' ss Seq
TCGGTAAGC
5' ss Score
9.86
Exon sequences
Seq C1 exon
ATGTTGATGAATGCCAGGCTATCCCAGGGATATGCCAAGGAGGAAACTGTATCAATACAGTGGGCTCTTTTGAATGCAGATGCCCTGCTGGTCACAAACAGAGTGAAACTACTCAGAAATGTGAAG
Seq A exon
ACATTGATGAGTGCAGCATCATTCCTGGGATATGTGAAACTGGTGAATGTTCCAACACCGTGGGAAGCTATTTTTGTGTTTGTCCACGTGGATATGTAACCTCAACAGATGGCTCTCGATGCATCG
Seq C2 exon
ATCAGAGAACAGGCATGTGTTTCTCGGGCCTGGTGAATGGCCGCTGTGCACAAGAGCTCCCGGGGAGAATGACGAAAATGCAGTGCTGCTGTGAGCCTGGCCGCTGCTGGGGCATCGGAACCATTCCTGAAGCCTGTCCTGTCAGAGGTTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-'18-37,'18-33,24-37
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=0.013
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.3)
C2:
PF0068312=TB=PU(86.4=73.1)
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:
CCAGGGATATGCCAAGGAGGA
R:
TGACAGGACAGGCTTCAGGAA
Band lengths:
247-373
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