HsaEX6087795 @ hg38
Exon Skipping
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:HGNC:16932]
Coordinates
chr10:20819424-20826539:-
Coord C1 exon
chr10:20826447-20826539
Coord A exon
chr10:20823208-20823300
Coord C2 exon
chr10:20819424-20819516
Length
93 bp
Sequences
Splice sites
3' ss Seq
TATTCTTATAAATTATGCAGGTG
3' ss Score
6.3
5' ss Seq
AATGTGATC
5' ss Score
-4.94
Exon sequences
Seq C1 exon
GTATTTTATAAGAAAGAAGTGGGAGCTGGCACTGCAGTGAAAGATAGCCCAGAGATCGAACGAGTGAAGAAAAATCAGCAGAATATTAGTTCA
Seq A exon
GTGAAATACAAAGAAGAGATTAAACATGCAACAGCCATTTCTGATCCTCCAGAACTAAAGAGAGTTAAAGAAAACCAGAAGAACATCAGCAAT
Seq C2 exon
CTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114-'80-77,'80-75,81-77=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=0.569 A=1.000 C2=0.880
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(28.0=22.6),PF0088013=Nebulin=PU(55.2=51.6)
A:
PF0088013=Nebulin=PD(37.9=35.5),PF0088013=Nebulin=PU(57.1=51.6)
C2:
PF0088013=Nebulin=PD(35.7=32.3),PF0088013=Nebulin=PU(55.2=51.6)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGAAAGAAGTGGGAGCTGGC
R:
CACTCAGCTGCTCCTGGTTTC
Band lengths:
175-268
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains