HsaEX6015980 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151547634-151549740:-
Coord C1 exon
chr2:151549636-151549740
Coord A exon
chr2:151548308-151548415
Coord C2 exon
chr2:151547634-151547738
Length
108 bp
Sequences
Splice sites
3' ss Seq
TTCTGACTTTGCTTTTGCAGTTC
3' ss Score
9.12
5' ss Seq
GAGGTACCT
5' ss Score
7.63
Exon sequences
Seq C1 exon
AATCTATACAAAACCAGCCTGCGCACCCTGCCCACTGGATATAGACTTCCAGGTGACACTCCTCACTTCAAACACATCAAGGACACCCGTTACATGAGCAGTTAT
Seq A exon
TTCAAGTACAAAGAAGCCTATGAACACACCAAGGCATATGGGTATACACTTGGCCCCAAAGATGTTCCATTTGTCCACGTCCGGAGAGTCAACAATGTTACCAGCGAG
Seq C2 exon
AGACTGTATCGGGAATTGTACCACAAACTGAAAGACAAGATCCATACAACTCCCGATACCCCTGAGATCCGCCAAGTCAAGAAGACACAAGAGGCTGTCAGTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'152-150,'152-149,153-150
Average complexity
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=0.257
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PU(55.2=45.7)
A:
PF0088013=Nebulin=PD(37.9=30.6)
C2:
PF0088013=Nebulin=PU(55.2=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:
AATCTATACAAAACCAGCCTGCG
R:
CTCACTGACAGCCTCTTGTGT
Band lengths:
210-318
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains