HsaEX1014294 @ hg38
Exon Skipping
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128378771-128392155:-
Coord C1 exon
chr5:128392018-128392155
Coord A exon
chr5:128380145-128380173
Coord C2 exon
chr5:128378771-128378890
Length
29 bp
Sequences
Splice sites
3' ss Seq
TCGTTCCTTTGGCTCAGTAGAAT
3' ss Score
3.57
5' ss Seq
AATGTAAGT
5' ss Score
8.62
Exon sequences
Seq C1 exon
CAATTCTGAACCAGACAATAGATATCTGTAAGCATCATGCTAACCTTTGTTTAAATGGACGCTGTATACCAACTGTCTCAAGCTACCGATGTGAATGCAACATGGGTTATAAGCAGGATGCAAATGGAGATTGTATAG
Seq A exon
AATTGATGGTATCAACTAAAACTTTAAAT
Seq C2 exon
ATGTTGATGAATGCACATCAAATCCCTGCACTAATGGAGATTGTGTTAACACACCTGGTTCCTATTATTGTAAATGTCATGCTGGATTCCAGAGGACTCCTACCAAGCAAGCATGCATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0000822=EGF=WD(100=66.0),PF0764510=EGF_CA=PU(0.1=0.0)
A:
NO
C2:
PF0764510=EGF_CA=WD(100=95.1),PF0764510=EGF_CA=PU(0.1=0.0)
Main Inclusion Isoform:
ENST00000508053fB15549
Other Inclusion Isoforms:
NA
Associated events
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGACGCTGTATACCAACTGT
R:
AGTGCAGGGATTTGATGTGCA
Band lengths:
115-144
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains