HsaEX6015983 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151545888-151547533:-
Coord C1 exon
chr2:151547429-151547533
Coord A exon
chr2:151546345-151546443
Coord C2 exon
chr2:151545888-151545998
Length
99 bp
Sequences
Splice sites
3' ss Seq
TTTCTGTGTTTGCCTCTCAGATT
3' ss Score
11.04
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
Exon sequences
Seq C1 exon
TTGATCTACAAATCAGACTTCTTCAAGATGCAGGGCCACATGATCTCTCTGCCATACACACCCCAAGTGATCCATTGCCGCTATGTGGGAGACATCACCAGTGAT
Seq A exon
ATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGG
Seq C2 exon
TCTAATTACCTATACACTGATAAGGCAAGGAAGATGCGAGACAAATACAAAGTGGTGCTTGACACTCCAGAATACAGAAAAGTGCAAGAACTGAAGACACATCTGAGTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'155-154,'155-153,156-154=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=PD(37.9=31.4),PF0088013=Nebulin=PU(53.6=42.9)
A:
PF0088013=Nebulin=PD(39.3=33.3),PF0088013=Nebulin=PU(48.3=42.4)
C2:
PF0088013=Nebulin=PD(44.8=35.1),PF0088013=Nebulin=PU(55.2=43.2)
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:
CAAGATGCAGGGCCACATGAT
R:
TGTGTCTTCAGTTCTTGCACT
Band lengths:
183-282
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains