HsaEX6015913 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151717416-151724364:-
Coord C1 exon
chr2:151724260-151724364
Coord A exon
chr2:151723382-151723486
Coord C2 exon
chr2:151717416-151717520
Length
105 bp
Sequences
Splice sites
3' ss Seq
TTCACTCTTTTTTGATTTAGAAA
3' ss Score
8.73
5' ss Seq
GATGTAAGT
5' ss Score
9.11
Exon sequences
Seq C1 exon
GTTTTATACAAGCAGAACTGGGAAGACACCAAGGATAAGTACCTGCTTCCTCCTGATGCCCCTGAACTTGTCCAGGCCGTTAAGAACACCGCCATGTTCAGCAAG
Seq A exon
AAACTGTACACTGAAGACTGGGAAGCAGACAAAAGTTTGTTTTACCCCTATAATGATAGCCCGGAACTGAGGAGAGTTGCCCAGGCCCAGAAAGCTCTCAGTGAT
Seq C2 exon
GTTGCCTACAAAAAAGGTCTCGCTGAACAGCAAGCTCAATTCACGCCTCTGGCTGATCCTCCAGATATAGAATTTGCCAAGAAAGTAACCAATCAAGTGAGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'10-10,'10-9,11-10=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.029 A=0.029 C2=0.114
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(39.3=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(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:
GTTTTATACAAGCAGAACTGGGAAGA
R:
CTTGCTCACTTGATTGGTTACTT
Band lengths:
210-315
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains