HsaEX0025068 @ hg38
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128304957-128305948:-
Coord C1 exon
chr5:128305823-128305948
Coord A exon
chr5:128305511-128305630
Coord C2 exon
chr5:128304957-128305082
Length
120 bp
Sequences
Splice sites
3' ss Seq
TGTTGCTCTTTCAGATATAGATG
3' ss Score
2.9
5' ss Seq
TAGGTAAGA
5' ss Score
9.14
Exon sequences
Seq C1 exon
ACATTGATGAATGTAAAGAGATTCCAGGCATTTGTGCAAATGGTGTGTGCATTAACCAGATTGGCAGTTTCCGCTGTGAATGCCCTACAGGATTCAGTTACAATGACCTGCTGTTGGTTTGTGAAG
Seq A exon
ATGAGTGCAGCAATGGTGATAATCTCTGCCAGCGGAATGCAGACTGCATCAATAGTCCTGGTAGTTACCGCTGTGAATGTGCCGCGGGTTTCAAACTTTCACCCAATGGGGCCTGTGTAG
Seq C2 exon
ATCGCAATGAATGTTTAGAAATTCCTAACGTTTGCAGTCATGGCTTGTGTGTTGATCTGCAAGGAAGTTACCAGTGCATCTGCCACAATGGCTTTAAGGCTTCTCAGGACCAGACCATGTGCATGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-'75-91,'75-90,76-91
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:
PF0764510=EGF_CA=WD(100=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.3),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
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAATGTAAAGAGATTCCAGGCA
R:
CATGCACATGGTCTGGTCCTG
Band lengths:
244-364
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development