HsaEX6015985 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151540697-151545998:-
Coord C1 exon
chr2:151545646-151545998
Coord A exon
chr2:151541447-151541551
Coord C2 exon
chr2:151540697-151540801
Length
105 bp
Sequences
Splice sites
3' ss Seq
ATAACTTGGTTTATGTCTAGCTG
3' ss Score
4.03
5' ss Seq
CAGGTAAGC
5' ss Score
9.88
Exon sequences
Seq C1 exon
TCTAATTACCTATACACTGATAAGGCAAGGAAGATGCGAGACAAATACAAAGTGGTGCTTGACACTCCAGAATACAGAAAAGTGCAAGAACTGAAGACACATCTGAGTGAGGTAAGGACGCTTTACTTGTCATTGAAGTCAATCAAATTGACCAGTACAAACTGAATTACTCCACAAGGCTCTTAGTTCCTCTAGTGATCGCTGTTCAGGCAACTGCGGCAGGTAAAATATTTCCCCTCTTAACTGTGGAATGGCTACTATGTCTAAGCAAGTCAACCAACTGCACTTTACCTCAGTTTACTTATTTTGCCCCCTTTTGGTAAGATACGCATATTCATACTGGCTCTTCCTAT
Seq A exon
CTGGTCTACAGAGCTGCAGGCAAGAAGCAGAAGTCAATCTTTACTTCAGTTCCTGATACTCCTGATCTTTTAAGAGCCAAGCGAGGGCAGAAGCTTCAGAGTCAG
Seq C2 exon
TATCTGTATGTTGAACTTGCCACCAAAGAGAGACCCCATCATCACGCTGGAAACCAGACCACAGCCTTGAAGCATGCTAAAGACGTGAAGGACATGGTCAGTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'158-156,'158-155,159-156
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.031 C2=0.463
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(44.8=35.1),PF0088013=Nebulin=PU(55.2=43.2)
A:
PF0088013=Nebulin=PD(37.9=31.4)
C2:
PF0088013=Nebulin=PU(50.0=37.1)
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:
TCTAGTGATCGCTGTTCAGGC
R:
TAGCATGCTTCAAGGCTGTGG
Band lengths:
242-347
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains