HsaEX0042346 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151531792-151535795:-
Coord C1 exon
chr2:151535691-151535795
Coord A exon
chr2:151533442-151533546
Coord C2 exon
chr2:151531792-151531896
Length
105 bp
Sequences
Splice sites
3' ss Seq
ACTGCTCTTTGCATGGACAGAGA
3' ss Score
5.05
5' ss Seq
CAGGTAATG
5' ss Score
9.43
Exon sequences
Seq C1 exon
TATAAGTATAAAGAAGTATTTGAAAGGACAAAGTCAGATTTCAAGTATGTTGCCGACTCTCCGATCAATAGGCATTTCAAGTATGCAACTCAATTGATGAATGAG
Seq A exon
AGAAAATATAAATCTAGTGCCAAGATGTTTCTGCAACATGGATGTAATGAAATTCTGCGTCCAGATATGTTGACTGCTCTCTACAATTCGCATATGTGGAGCCAG
Seq C2 exon
ATCAAATACAGGAAAAACTATGAAAAATCAAAGGACAAATTTACCTCAATTGTGGATACTCCAGAACACCTGCGTACTACAAAAGTCAACAAACAAATCAGCGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091_MULTIEX3-2/2=C1-C2
Average complexity
ME(1-2[100=100])
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.028
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(55.2=45.7)
A:
PF0088013=Nebulin=PD(35.7=28.6),PF0088013=Nebulin=PU(53.6=42.9)
C2:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(55.2=45.7)
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGTATTTGAAAGGACAAAGTCAGA
R:
TCGCTGATTTGTTTGTTGACTT
Band lengths:
197-302
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development