HsaEX6015988 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151537872-151540448:-
Coord C1 exon
chr2:151540344-151540448
Coord A exon
chr2:151538140-151538244
Coord C2 exon
chr2:151537872-151537976
Length
105 bp
Sequences
Splice sites
3' ss Seq
TGTGTTTTTTCTCTTTCTAGCTA
3' ss Score
10.9
5' ss Seq
AAAGTATGT
5' ss Score
6.93
Exon sequences
Seq C1 exon
AAAAAGTACAAGATTCAATATGAAAAGATGAAAGACAAGTACACTCCGGTTCCAGATACGCCAATCCTCATCAGAGCCAAGAGGGCTTACTGGAATGCCAGTGAT
Seq A exon
CTACGCTACAAAGAAACATTTCAAAAGACCAAAGGGAAATACCACACGGTGAAAGATGCCCTAGACATTGTCTATCATCGCAAAGTCACAGATGACATCAGTAAA
Seq C2 exon
ATAAAATACAAGGAGAACTACATGAGCCAGTTGGGTATCTGGAGGTCCATTCCTGATCGTCCAGAGCATTTCCACCACCGAGCAGTCACTGACACAGTCAGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'161-161,'161-160,164-161
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.005 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(42.3=31.4),PF0088013=Nebulin=PU(55.2=45.7)
A:
PF0088013=Nebulin=PD(37.9=31.4)
C2:
PF0088013=Nebulin=PU(55.2=45.7)
Main Skipping Isoform:
ENST00000618972fB20937
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:
ATGAAAAGATGAAAGACAAGTACACT
R:
TGACTGTGTCAGTGACTGCTC
Band lengths:
186-291
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains