HsaEX0025070 @ hg38
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128289882-128291654:-
Coord C1 exon
chr5:128291529-128291654
Coord A exon
chr5:128290732-128290884
Coord C2 exon
chr5:128289882-128289947
Length
153 bp
Sequences
Splice sites
3' ss Seq
ATGTTTGCTTTTTTGATTAGATA
3' ss Score
6.75
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
ATATAAATGAATGTGATGAAGATCCCAACATTTGTCTTTTTGGTTCCTGTACTAATACTCCAGGGGGCTTCCAGTGCCTCTGCCCCCCTGGCTTTGTACTATCTGATAATGGACGGAGATGCTTTG
Seq A exon
ATACTCGCCAGAGCTTCTGCTTCACAAATTTTGAAAATGGAAAGTGTTCTGTACCCAAAGCTTTCAACACCACAAAAGCAAAATGCTGCTGTAGTAAGATGCCAGGAGAGGGCTGGGGGGACCCCTGTGAGCTGTGCCCCAAAGACGATGAAG
Seq C2 exon
TTGCATTTCAGGATTTGTGTCCATATGGCCATGGAACTGTCCCTAGTCTTCATGATACACGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-'81-99,'81-98,82-99=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)
A:
PF0068312=TB=PU(86.4=73.1)
C2:
PF0068312=TB=PD(11.4=21.7),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:
ATGAATGTGATGAAGATCCCAACA
R:
CTTCACGTGTATCATGAAGACTAGGG
Band lengths:
186-339
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