HsaEX6016004 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151516459-151519069:-
Coord C1 exon
chr2:151518965-151519069
Coord A exon
chr2:151518318-151518422
Coord C2 exon
chr2:151516459-151516563
Length
105 bp
Sequences
Splice sites
3' ss Seq
TTTTGCCGCCTTCCCCTCAGTAC
3' ss Score
8.28
5' ss Seq
ATAGTAAGT
5' ss Score
8.65
Exon sequences
Seq C1 exon
GTTAAATACAAGGCTGACCTGAAGAAACTTCACAAACCCGTGACTGACATGAAGGAGTCTCTGATCATGAATCATGTCCTGAATACAAGCCAACTTGCCAGTTCT
Seq A exon
TACCAGTACAAGAAGAAGTATGAGAAGAGTAAAGGCCACTACCACACCATACCCGATAATCTGGAGCAGCTTCACCTAAAAGAGGCCACAGAATTACAGAGTATA
Seq C2 exon
GTGAAATACAAAGAAAAGTATGAAAAGGAACGAGGAAAACCCATGCTGGACTTTGAAACACCAACGTACATCACTGCCAAAGAGTCTCAGCAGATGCAGAGTGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'190-192,'190-190,191-192=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.157 A=0.379 C2=0.504
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PU(55.2=45.7)
A:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(55.2=45.7)
C2:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(55.2=45.7)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCTGACCTGAAGAAACTTCACA
R:
TCTGCATCTGCTGAGACTCTT
Band lengths:
194-299
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains