HsaEX6015909 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151725453-151729656:-
Coord C1 exon
chr2:151729615-151729656
Coord A exon
chr2:151727691-151727906
Coord C2 exon
chr2:151725453-151725560
Length
216 bp
Sequences
Splice sites
3' ss Seq
ACTGCATATCAAATTTTCAGACA
3' ss Score
5.35
5' ss Seq
CCAGTAAGT
5' ss Score
9.09
Exon sequences
Seq C1 exon
TACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAG
Seq A exon
ACAATAACAAAAATTTATGAGACTACGACAACAAGGACATCTGACTATGAGCAATCAGAAACTTCCAAACCAGCTCTGGCACAGCCAGCACTGGCACAGCCAGCATCAGCAAAGCCGGTGGAGAGGAGGAAGGTCATCCGGAAGAAAGTGGATCCTTCAAAGTTCATGACCCCCTACATTGCACACAGTCAGAAAATGCAGGATCTTTTTAGCCCA
Seq C2 exon
AATAAATACAAGGAGAAGTTTGAGAAAACAAAAGGACAGCCATACGCCAGCACAACAGATACTCCAGAACTTCGCAGAATCAAAAAAGTACAAGATCAACTCAGTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'6-6,'6-5,7-6
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.143 A=0.611 C2=0.583
Domain overlap (PFAM):
C1:
NO
A:
PF0088013=Nebulin=PU(55.2=22.2)
C2:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(55.2=44.4)
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:
ACTACACAGAAGAAGTGGTTTACGA
R:
CTCACTGAGTTGATCTTGTACTTTT
Band lengths:
149-365
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains