HsaEX6016007 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151512733-151514428:-
Coord C1 exon
chr2:151514318-151514428
Coord A exon
chr2:151513580-151513693
Coord C2 exon
chr2:151512733-151512837
Length
114 bp
Sequences
Splice sites
3' ss Seq
TTCTTTTAATGCTACTATAGAAA
3' ss Score
4.03
5' ss Seq
CAGGTCAGT
5' ss Score
8.94
Exon sequences
Seq C1 exon
AAAGAGTACAGGAAAGATCTAGAGGAAAGCATCCGTGGGAAGGGCCTCACTGAAATGGAAGATACACCTGACATGCTAAGAGCAAAGAATGCCACTCAAATCCTCAATGAG
Seq A exon
AAAGAATATAAGCGAGACCTGGAACTGGAAGTCAAAGGAAGAGGCCTGAATGCCATGGCCAATGAAACTCCGGATTTTATGAGGGCCAGGAATGCTACTGATATTGCCAGTCAG
Seq C2 exon
ATTAAGTATAAGCAATCAGCAGAAATGGAGAAAGCCAATTTCACTTCTGTGGTTGATACTCCAGAGATCATTCATGCCCAACAAGTCAAGAATCTTTCAAGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'195-198,'195-195,197-198=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.774 A=0.390 C2=0.272
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(35.7=27.0),PF0088013=Nebulin=PU(55.2=43.2)
A:
PF0088013=Nebulin=PD(37.9=28.9),PF0088013=Nebulin=PU(55.2=42.1)
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:
GTACAGGAAAGATCTAGAGGAAAGCA
R:
TGGCTTGAAAGATTCTTGACTTGT
Band lengths:
210-324
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains