HsaEX6087793 @ hg19
Exon Skipping
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:16932]
Coordinates
chr10:21309046-21463116:-
Coord C1 exon
chr10:21462694-21463116
Coord A exon
chr10:21461312-21461406
Coord C2 exon
chr10:21309046-21309130
Length
95 bp
Sequences
Splice sites
3' ss Seq
TGTTTTTTTTTTTTTTCCAGTAT
3' ss Score
9.74
5' ss Seq
TGCGTAAGT
5' ss Score
9.73
Exon sequences
Seq C1 exon
CCTGCGCGGCGGCGGCGGCGAGGCGGGGGAGCGAGTGAGCGCGAGGGGCGGGCGCGAGTGACTGTGTGAGTCACCCGTACCTGGAGTGCGAGCGACGCAGAGCCAGCGGCGCGGAGCCGGAGCCGGAGCCGAGACCCAGCGCCTGCGAGCCCGAGAGCGCGGCCGGCCCCAGGCGCCAGGCCCCGTCGCCCTCCCCGTGCACTCACCCGTGGCCCGGCGCCGACTCCCTACCCGGCGCCCGCCGCCCGCAGCCCTCCCGCCTGCCAGGAGGCGGTGCGGGGCTCGCCGGGGGATGTCACAGCGGCTCCTGGGAGCCAGCAGCCGCCGCCGCCGCCGCCCCCGGGAACCGCGATCATGAACCCCCAGTGCGCCCGTTGCGGAAAAGTCGTGTATCCCACCGAGAAAGTCAACTGCCTGGATAAG
Seq A exon
TATTGGCATAAAGGATGTTTCCATTGTGAGGTCTGCAAGATGGCACTCAACATGAACAACTACAAAGGCTATGAAAAGAAGCCCTATTGTAATGC
Seq C2 exon
ACACTACCCGAAGCAGTCCTTCACCACGGTGGCAGATACACCTGAAAATCTTCGCCTGAAGCAGCAAAGTGAATTGCAGAGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114-'0-4,'0-0,1-4=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.415
Domain overlap (PFAM):
C1:
PF0041217=LIM=PU(31.6=78.3)
A:
PF0041217=LIM=FE(54.4=100)
C2:
PF0041217=LIM=PD(10.5=20.7),PF0088013=Nebulin=PU(55.2=55.2),PF083957=7tm_7=PU(14.9=48.3)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GATGTCACAGCGGCTCCTG
R:
GTGTATCTGCCACCGTGGTG
Band lengths:
173-268
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)