HsaEX0042355 @ hg38
Exon Skipping
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:HGNC:16932]
Coordinates
chr10:20813939-20817692:-
Coord C1 exon
chr10:20817600-20817692
Coord A exon
chr10:20815625-20815717
Coord C2 exon
chr10:20813939-20814043
Length
93 bp
Sequences
Splice sites
3' ss Seq
TTTGTTCTCTGAAATGATAGGTT
3' ss Score
4.92
5' ss Seq
TCGGCAAGT
5' ss Score
4.02
Exon sequences
Seq C1 exon
GTAAAATATAAGGGAGAACTTCAACGGGGAACTGCAATTTCTGATCCACCAGAGCTGAAGAGGGCAAAAGAAAACCAGAAAAACATCAGCAAT
Seq A exon
GTTTATTACAGAGGTCAGCTGGGAAGAGCTACCACTTTAAGTGTAACTCCTGAAATGGAAAGAGTGAAGAAGAATCAAGAAAATATTAGCTCG
Seq C2 exon
GTAAAATATACCCAGGACCATAAACAGATGAAAGGTAGACCAAGTCTGATTTTAGATACACCTGCTATGAGACATGTTAAAGAAGCACAAAATCATATTTCAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114-'88-86,'88-85,90-86
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.966 A=0.670 C2=0.817
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=31.4),PF0088013=Nebulin=PU(55.2=45.7)
Main Skipping Isoform:
ENST00000417816fB4615
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGGGAGAACTTCAACGGGGA
R:
TCTTTAACATGTCTCATAGCAGGTGT
Band lengths:
167-260
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development