HsaEX6016014 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151490372-151492281:-
Coord C1 exon
chr2:151492098-151492281
Coord A exon
chr2:151491683-151491775
Coord C2 exon
chr2:151490372-151490518
Length
93 bp
Sequences
Splice sites
3' ss Seq
ATCACTGGTTTCCCTTTCAGGTT
3' ss Score
12.13
5' ss Seq
ATGGTGTGT
5' ss Score
4.84
Exon sequences
Seq C1 exon
GTGAAATATCATGAAGACTTTGAGAAACACAAGGGTTGCTTCACACCAGTGGTGACAGATCCTATCACTGAACGAGTAAAGAAGAACATGCAGGACTTCAGTGACATTAACTACCGAGGTATTCAGAGGAAAGTGGTAGAAATGGAACAAAAACGGAATGACCAAGATCAGGAGACTATTACAG
Seq A exon
GTTTACGTGTCTGGCGTACTAATCCTGGTTCGGTTTTTGACTATGATCCAGCAGAAGACAACATCCAGTCCCGAAGCTTACACATGATTAATG
Seq C2 exon
TCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGCATCAGTGGGGGTGAGGAGAAGTCTGAGCATTCAGAAGCACCAGACCACCACCTTTCGACTTACAGCGACGGGGGTGTCTTTGCAGTCTCAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'224-225,'224-223,225-225
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.609 A=0.629 C2=0.786
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=17.7)
A:
NO
C2:
NO
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:
ACATGCAGGACTTCAGTGACA
R:
CTTCTCCTCACCCCCACTGAT
Band lengths:
173-266
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains