HsaEX6099740 @ hg38
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128257909-128263656:-
Coord C1 exon
chr5:128263425-128263656
Coord A exon
chr5:128261736-128261907
Coord C2 exon
chr5:128257909-128259829
Length
172 bp
Sequences
Splice sites
3' ss Seq
ACTTTGCTTTTTGCAAATAGCCA
3' ss Score
5.18
5' ss Seq
GCTGTGAGT
5' ss Score
7.39
Exon sequences
Seq C1 exon
ATGAGAATGAATGCTCCAATCCCAATGCCTGTGGCTCTGCTTCCTGCTACAACACCCTGGGGAGTTACAAGTGCGCCTGCCCCTCGGGGTTCTCCTTCGACCAGTTCTCCAGTGCCTGCCACGACGTGAATGAGTGCTCGTCCTCCAAGAACCCCTGCAATTACGGCTGCTCTAACACGGAGGGGGGCTACCTCTGTGGCTGCCCCCCTGGGTATTACAGAGTGGGACAAGG
Seq A exon
CCACTGTGTCTCAGGAATGGGATTTAACAAGGGGCAGTACCTGTCACTGGATACAGAGGTCGATGAGGAAAATGCTCTGTCCCCAGAAGCATGCTACGAGTGCAAAATCAACGGCTATTCTAAGAAAGACAGCAGGCAGAAGAGAAGTATTCATGAACCTGATCCCACTGCT
Seq C2 exon
GTTGAACAGATCAGCCTAGAGAGTGTCGACATGGACAGCCCCGTCAACATGAAGTTCAACCTCTCCCACCTCGGCTCTAAGGAGCACATCCTGGAACTAAGGCCCGCCATCCAGCCCCTCAACAACCACATCCGTTATGTCATCTCTCAAGGGAACGATGACAGCGTCTTCCGCATCCACCAAAGGAATGGGCTCAGCTACTTGCACACGGCCAAGAAGAAGCTCATGCCCGGCACATACACACTGGAAATCACTAGCATCCCTCTCTACAAGAAGAAGGAGCTTAAGAAACTGGAAGAGAGCAATGAGGATGACTACCTCCTAGGGGAGCTTGGGGAGGCTCTCAGAATGAGGCTGCAGATTCAGCTCTATTAACCCTTCACAGACTTGGGCCCAGGCTCAAATCCTAGCACAGCCAGTCTGCAGAAGCATTTGAAAAGTCAAGGACTAATTTTAAAGAGGAAAAATAATAATAACTCTTGTTTCTTTCCTCCCTGTCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829-'99-122,'99-120,101-122=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.241 C2=0.065
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=51.3),PF0764510=EGF_CA=PU(92.3=46.2)
A:
PF0764510=EGF_CA=PD(5.1=3.4)
C2:
NO
Main Skipping Isoform:
ENST00000508053fB2657
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCGACCAGTTCTCCAGTGC
R:
GGCCTTAGTTCCAGGATGTGC
Band lengths:
242-414
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains