HsaEX0025065 @ hg38
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128307135-128310108:-
Coord C1 exon
chr5:128309983-128310108
Coord A exon
chr5:128309247-128309399
Coord C2 exon
chr5:128307135-128307203
Length
153 bp
Sequences
Splice sites
3' ss Seq
CTTTGTTTTTCTTTATATAGACA
3' ss Score
8
5' ss Seq
CAGGTAAGC
5' ss Score
9.88
Exon sequences
Seq C1 exon
ATATTGATGAGTGTTTTGCACATCCTGGTGTGTGTGGGCCTGGGACCTGCTATAACACCCTGGGAAATTACACCTGCATTTGCCCACCTGAGTACATGCAGGTCAATGGAGGCCACAACTGCATGG
Seq A exon
ACATGAGAAAAAGCTTTTGCTACCGAAGCTATAATGGAACCACTTGTGAGAATGAGTTGCCTTTCAATGTGACAAAAAGGATGTGCTGCTGCACATATAATGTGGGCAAAGCCTGGAACAAACCTTGTGAACCATGCCCAACTCCAGGAACAG
Seq C2 exon
CTGACTTTAAAACCATATGTGGAAATATTCCTGGATTCACCTTTGACATTCACACAGGAAAAGCTGTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-'72-87,'72-86,73-87=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=20.8),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:
TTTGCACATCCTGGTGTGTGT
R:
ACAGCTTTTCCTGTGTGAATGTCA
Band lengths:
179-332
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development