HsaEX6015989 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151537132-151538244:-
Coord C1 exon
chr2:151538140-151538244
Coord A exon
chr2:151537872-151537976
Coord C2 exon
chr2:151537132-151537236
Length
105 bp
Sequences
Splice sites
3' ss Seq
CTTTGTGTTTTTTATAACAGATA
3' ss Score
9.58
5' ss Seq
GATGTGAGT
5' ss Score
7.77
Exon sequences
Seq C1 exon
CTACGCTACAAAGAAACATTTCAAAAGACCAAAGGGAAATACCACACGGTGAAAGATGCCCTAGACATTGTCTATCATCGCAAAGTCACAGATGACATCAGTAAA
Seq A exon
ATAAAATACAAGGAGAACTACATGAGCCAGTTGGGTATCTGGAGGTCCATTCCTGATCGTCCAGAGCATTTCCACCACCGAGCAGTCACTGACACAGTCAGTGAT
Seq C2 exon
GTAAAATATAAAGAAGACTTGACTTGGCTTAAAGGCATTGGTTGCTATGCCTATGATACCCCTGATTTCACTCTGGCTGAAAAGAACAAGACTCTCTACAGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'164-162,'164-161,165-162
Average complexity
C1
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:
PF0088013=Nebulin=PD(37.9=31.4)
A:
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
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTACGCTACAAAGAAACATTTCAAAA
R:
CTTGCTGTAGAGAGTCTTGTTCT
Band lengths:
210-315
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains