HsaEX6015976 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151552672-151554025:-
Coord C1 exon
chr2:151553828-151554025
Coord A exon
chr2:151553398-151553502
Coord C2 exon
chr2:151552672-151552776
Length
105 bp
Sequences
Splice sites
3' ss Seq
TTTCTATCAAAACCCTCTAGATT
3' ss Score
6.09
5' ss Seq
GATGTGAGT
5' ss Score
7.77
Exon sequences
Seq C1 exon
CGCCTGTACAGATCAGTTTATGAAAAGAACAAGATGAAAATCCACATCGTGCCCGACATGGTAGAGATGGTTACTGCCAAGGATTCCCAGAAGAAAGTCAGTGAGATTGATTACCGCCTGCGCCTCCACGAATGGATTTGCCACCCCGACTTGCAAGTCAATGATCACGTCAGGAAAGTCACAGATCAGATCAGCGAT
Seq A exon
ATTGTATACAAGGATGACCTCAACTGGCTGAAAGGCATTGGTTGCTACGTCTGGGACACTCCTGAAATCCTCCATGCCAAGCATGCTTATGATCTACGTGATGAT
Seq C2 exon
ATCAAGTATAAAGCTCACATGTTGAAAACAAGGAATGACTACAAGCTTGTCACAGATACACCAGTCTACGTGCAGGCTGTCAAAAGTGGGAAACAGCTAAGTGAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'147-145,'147-144,148-145=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PU(50.0=19.7)
A:
PF0088013=Nebulin=PD(42.3=31.4),PF0088013=Nebulin=PU(55.2=45.7)
C2:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(57.1=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:
TGAAAATCCACATCGTGCCCG
R:
TTTGACAGCCTGCACGTAGAC
Band lengths:
248-353
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains