HsaEX6015986 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151540344-151541551:-
Coord C1 exon
chr2:151541447-151541551
Coord A exon
chr2:151540697-151540801
Coord C2 exon
chr2:151540344-151540448
Length
105 bp
Sequences
Splice sites
3' ss Seq
CACTTTCTTCTATTATTCAGTAT
3' ss Score
5.69
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
Exon sequences
Seq C1 exon
CTGGTCTACAGAGCTGCAGGCAAGAAGCAGAAGTCAATCTTTACTTCAGTTCCTGATACTCCTGATCTTTTAAGAGCCAAGCGAGGGCAGAAGCTTCAGAGTCAG
Seq A exon
TATCTGTATGTTGAACTTGCCACCAAAGAGAGACCCCATCATCACGCTGGAAACCAGACCACAGCCTTGAAGCATGCTAAAGACGTGAAGGACATGGTCAGTGAG
Seq C2 exon
AAAAAGTACAAGATTCAATATGAAAAGATGAAAGACAAGTACACTCCGGTTCCAGATACGCCAATCCTCATCAGAGCCAAGAGGGCTTACTGGAATGCCAGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'159-158,'159-156,160-158=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.031 A=0.463 C2=0.005
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=31.4)
A:
PF0088013=Nebulin=PU(50.0=37.1)
C2:
PF0088013=Nebulin=PD(42.3=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:
GTCTACAGAGCTGCAGGCAAG
R:
TGGCATTCCAGTAAGCCCTCT
Band lengths:
202-307
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains