HsaEX6099726 @ hg38
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128335455-128338122:-
Coord C1 exon
chr5:128337997-128338122
Coord A exon
chr5:128335988-128336113
Coord C2 exon
chr5:128335455-128335577
Length
126 bp
Sequences
Splice sites
3' ss Seq
CTTCTGTGTATCTTTTATAGATA
3' ss Score
9.95
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
Exon sequences
Seq C1 exon
ACATTGACGAATGTGAACGTAACCCTCTCCTTTGTAGGGGTGGCACCTGTGTGAACACTGAGGGCAGCTTTCAGTGTGACTGCCCACTGGGACACGAGCTGTCACCATCCCGTGAGGACTGTGTGG
Seq A exon
ATATTAATGAATGCTCCCTGAGTGACAATCTCTGCAGAAATGGAAAATGTGTGAACATGATTGGAACCTATCAGTGCTCTTGCAATCCTGGATATCAGGCTACGCCAGACCGCCAGGGCTGTACAG
Seq C2 exon
ATATTGATGAATGTATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATTCAGAGGGAAGCTACGAATGCAGCTGCAGTGAGGGTTATGCCCTGATGCCAGATGGGAGATCGTGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-'55-72,'55-71,56-72=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=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.3)
C2:
PF146701=FXa_inhibition=WD(100=85.7),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:
TGACGAATGTGAACGTAACCCT
R:
CTGCACACGATCTCCCATCTG
Band lengths:
245-371
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains