HsaEX0042351 @ hg19
Exon Skipping
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:16932]
Coordinates
chr10:21250601-21461406:-
Coord C1 exon
chr10:21461312-21461406
Coord A exon
chr10:21309046-21309130
Coord C2 exon
chr10:21250601-21250708
Length
85 bp
Sequences
Splice sites
3' ss Seq
TTTAAAAAATTTCCCCACAGACA
3' ss Score
8.79
5' ss Seq
CAGGTAACT
5' ss Score
8.63
Exon sequences
Seq C1 exon
TATTGGCATAAAGGATGTTTCCATTGTGAGGTCTGCAAGATGGCACTCAACATGAACAACTACAAAGGCTATGAAAAGAAGCCCTATTGTAATGC
Seq A exon
ACACTACCCGAAGCAGTCCTTCACCACGGTGGCAGATACACCTGAAAATCTTCGCCTGAAGCAGCAAAGTGAATTGCAGAGTCAG
Seq C2 exon
GTCAAGTACAAAAGAGATTTTGAAGAAAGCAAAGGGAGGGGCTTCAGCATCGTCACGGACACTCCTGAGCTACAGAGACTGAAGAGGACTCAGGAGCAAATCAGTAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114-'1-5,'1-4,5-5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.415 C2=0.389
Domain overlap (PFAM):
C1:
PF0041217=LIM=FE(54.4=100)
A:
PF0041217=LIM=PD(10.5=20.7),PF0088013=Nebulin=PU(55.2=55.2),PF083957=7tm_7=PU(14.9=48.3)
C2:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(55.2=44.4)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGTGAGGTCTGCAAGATGGC
R:
TGCTCCTGAGTCCTCTTCAGT
Band lengths:
170-255
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)