HsaEX0042347 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151506909-151512837:-
Coord C1 exon
chr2:151512733-151512837
Coord A exon
chr2:151508005-151508109
Coord C2 exon
chr2:151506909-151507013
Length
105 bp
Sequences
Splice sites
3' ss Seq
TTCTTGGAATCTATTCCCAGAAA
3' ss Score
4.6
5' ss Seq
CTTGTAAGT
5' ss Score
8
Exon sequences
Seq C1 exon
ATTAAGTATAAGCAATCAGCAGAAATGGAGAAAGCCAATTTCACTTCTGTGGTTGATACTCCAGAGATCATTCATGCCCAACAAGTCAAGAATCTTTCAAGCCAG
Seq A exon
AAAAAGTACAAGGAAGATGCTGAGAAGTCCATGTCGTATTATGAGACTGTTTTGGACACCCCAGAGATACAGAGAGTCCGGGAGAACCAAAAGAACTTCAGCCTT
Seq C2 exon
CTCCAATACCAGTGTGACCTTAAAAACAGTAAAGGAAAAATTACAGTTGTTCAAGACACGCCAGAAATACTGCGTGTAAAAGAAAATCAGAAGAATTTCAGCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091_CASSETTE3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.272 A=0.265 C2=0.079
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(55.2=45.7)
A:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(55.2=45.7)
C2:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(66.7=45.7)
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:
TCAGCAGAAATGGAGAAAGCCA
R:
CGAGCTGAAATTCTTCTGATTTTCT
Band lengths:
195-300
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development