HsaEX6015908 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151727691-151733185:-
Coord C1 exon
chr2:151733121-151733185
Coord A exon
chr2:151729615-151729656
Coord C2 exon
chr2:151727691-151727906
Length
42 bp
Sequences
Splice sites
3' ss Seq
CCTTTGTGCTCTATTTACAGTAC
3' ss Score
8.51
5' ss Seq
GAGGTAAGG
5' ss Score
10.28
Exon sequences
Seq C1 exon
TTTGTAGGTGCCACTACTACTCTGGAAAAATGGCAGATGACGAAGACTATGAGGAGGTGGTGGAG
Seq A exon
TACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAG
Seq C2 exon
ACAATAACAAAAATTTATGAGACTACGACAACAAGGACATCTGACTATGAGCAATCAGAAACTTCCAAACCAGCTCTGGCACAGCCAGCACTGGCACAGCCAGCATCAGCAAAGCCGGTGGAGAGGAGGAAGGTCATCCGGAAGAAAGTGGATCCTTCAAAGTTCATGACCCCCTACATTGCACACAGTCAGAAAATGCAGGATCTTTTTAGCCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'5-5,'5-4,6-5=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.250 A=0.143 C2=0.611
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0088013=Nebulin=PU(55.2=22.2)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGACTATGAGGAGGTGGTGGAG
R:
CTCCACCGGCTTTGCTGATG
Band lengths:
145-187
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains