HsaEX0042354 @ hg38
Exon Skipping
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:HGNC:16932]
Coordinates
chr10:20817600-20823300:-
Coord C1 exon
chr10:20823208-20823300
Coord A exon
chr10:20819424-20819516
Coord C2 exon
chr10:20817600-20817692
Length
93 bp
Sequences
Splice sites
3' ss Seq
TCTTGCACCTTGTCTCTCAGCTC
3' ss Score
7.12
5' ss Seq
GCGGCAAGT
5' ss Score
3.61
Exon sequences
Seq C1 exon
GTGAAATACAAAGAAGAGATTAAACATGCAACAGCCATTTCTGATCCTCCAGAACTAAAGAGAGTTAAAGAAAACCAGAAGAACATCAGCAAT
Seq A exon
CTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCG
Seq C2 exon
GTAAAATATAAGGGAGAACTTCAACGGGGAACTGCAATTTCTGATCCACCAGAGCTGAAGAGGGCAAAAGAAAACCAGAAAAACATCAGCAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114-'81-81,'81-77,84-81=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.880 C2=0.966
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=35.5),PF0088013=Nebulin=PU(57.1=51.6)
A:
PF0088013=Nebulin=PD(35.7=32.3),PF0088013=Nebulin=PU(55.2=51.6)
C2:
PF0088013=Nebulin=PD(37.9=35.5),PF0088013=Nebulin=PU(57.1=51.6)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAAGAGATTAAACATGCAACAGCC
R:
TGTTTTTCTGGTTTTCTTTTGCCCT
Band lengths:
167-260
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development