HsaEX6016006 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151513580-151514928:-
Coord C1 exon
chr2:151514818-151514928
Coord A exon
chr2:151514318-151514428
Coord C2 exon
chr2:151513580-151513693
Length
111 bp
Sequences
Splice sites
3' ss Seq
GCTTTTCTTTCATGATATAGAAA
3' ss Score
6.17
5' ss Seq
GAGGTAGGC
5' ss Score
8.99
Exon sequences
Seq C1 exon
AAAGAATATAGGAAAGATTATGAAGAGTCCATTAAAGGCAGAAACCTGACTGGCCTGGAGGTCACGCCAGCTTTGTTACATGTCAAATATGCAACTAAAATAGCAAGCGAG
Seq A exon
AAAGAGTACAGGAAAGATCTAGAGGAAAGCATCCGTGGGAAGGGCCTCACTGAAATGGAAGATACACCTGACATGCTAAGAGCAAAGAATGCCACTCAAATCCTCAATGAG
Seq C2 exon
AAAGAATATAAGCGAGACCTGGAACTGGAAGTCAAAGGAAGAGGCCTGAATGCCATGGCCAATGAAACTCCGGATTTTATGAGGGCCAGGAATGCTACTGATATTGCCAGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'194-195,'194-194,195-195
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.243 A=0.774 C2=0.390
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=29.7),PF0088013=Nebulin=PU(57.1=43.2)
A:
PF0088013=Nebulin=PD(35.7=27.0),PF0088013=Nebulin=PU(55.2=43.2)
C2:
PF0088013=Nebulin=PD(37.9=28.9),PF0088013=Nebulin=PU(55.2=42.1)
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:
AGATTATGAAGAGTCCATTAAAGGCA
R:
TGACTGGCAATATCAGTAGCATTCC
Band lengths:
210-321
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains