HsaEX0042350 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151514318-151516563:-
Coord C1 exon
chr2:151516459-151516563
Coord A exon
chr2:151514818-151514928
Coord C2 exon
chr2:151514318-151514428
Length
111 bp
Sequences
Splice sites
3' ss Seq
TTCCTTCCTACTTACATTAGAAA
3' ss Score
5
5' ss Seq
GAGGTAGTG
5' ss Score
4.58
Exon sequences
Seq C1 exon
GTGAAATACAAAGAAAAGTATGAAAAGGAACGAGGAAAACCCATGCTGGACTTTGAAACACCAACGTACATCACTGCCAAAGAGTCTCAGCAGATGCAGAGTGGG
Seq A exon
AAAGAATATAGGAAAGATTATGAAGAGTCCATTAAAGGCAGAAACCTGACTGGCCTGGAGGTCACGCCAGCTTTGTTACATGTCAAATATGCAACTAAAATAGCAAGCGAG
Seq C2 exon
AAAGAGTACAGGAAAGATCTAGAGGAAAGCATCCGTGGGAAGGGCCTCACTGAAATGGAAGATACACCTGACATGCTAAGAGCAAAGAATGCCACTCAAATCCTCAATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.504 A=0.243 C2=0.774
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(55.2=45.7)
A:
PF0088013=Nebulin=PD(37.9=29.7),PF0088013=Nebulin=PU(57.1=43.2)
C2:
PF0088013=Nebulin=PD(35.7=27.0),PF0088013=Nebulin=PU(55.2=43.2)
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:
AGAAAAGTATGAAAAGGAACGAGGA
R:
CTCATTGAGGATTTGAGTGGCA
Band lengths:
205-316
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development