HsaEX0042359 @ hg19
Exon Skipping
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:16932]
Coordinates
chr10:21076131-21101869:-
Coord C1 exon
chr10:21101698-21101869
Coord A exon
chr10:21097439-21097588
Coord C2 exon
chr10:21076131-21076237
Length
150 bp
Sequences
Splice sites
3' ss Seq
ATATTTTCCCTCCAATATAGAAA
3' ss Score
7.37
5' ss Seq
GAGGTATCA
5' ss Score
6.35
Exon sequences
Seq C1 exon
GTAAAATACCATGAAGATTTTGAAAAAACAAAGGGGAGAGGCTTTACTCCCGTCGTGGACGATCCTGTGACAGAGAGAGTGAGGAAGAACACCCAGGTGGTCAGCGATGCTGCCTATAAAGGGGTCCACCCTCACATCGTGGAGATGGACAGGAGACCTGGAATCATTGTTG
Seq A exon
AAAAGGCGAGTCACTATAGGCGACACTGGTCTCGATCCCATTCCAGCAGTACTTTCGGTACAGGTCTCGGAGACGACAGGTCAGAAATCTCCGAGATTTACCCTAGCTTTTCATGCTGCAGTGAGGTAACAAGACCGTCTGATGAAGGAG
Seq C2 exon
CACCTGTTCTTCCCGGAGCCTATCAGCAAAGCCATTCCCAAGGCTATGGCTACATGCACCAGACCAGTGTGTCATCCATGAGATCAATGCAGCATTCACCAAATCTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114_MULTIEX1-2/3=C1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.450 A=0.248 C2=0.472
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=19.0),PF0088013=Nebulin=WD(100=41.4)
A:
NO
C2:
NO
Other Inclusion 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:
GAGAGGCTTTACTCCCGTCGT
R:
AGATTTGGTGAATGCTGCATTGA
Band lengths:
243-393
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- 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)