HsaEX0042360 @ hg38
Exon Skipping
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:HGNC:16932]
Coordinates
chr10:21020117-21172477:-
Coord C1 exon
chr10:21172383-21172477
Coord A exon
chr10:21054977-21055033
Coord C2 exon
chr10:21020117-21020201
Length
57 bp
Sequences
Splice sites
3' ss Seq
GGATACATTTTCTTCTTCAGGGT
3' ss Score
8.55
5' ss Seq
GAAGTAAGA
5' ss Score
6.42
Exon sequences
Seq C1 exon
TATTGGCATAAAGGATGTTTCCATTGTGAGGTCTGCAAGATGGCACTCAACATGAACAACTACAAAGGCTATGAAAAGAAGCCCTATTGTAATGC
Seq A exon
GGTAGAAGTTCATCTCCCTCTTAACAGAAACAGAACTTTCATCAGTTCTGCCCAGAA
Seq C2 exon
ACACTACCCGAAGCAGTCCTTCACCACGGTGGCAGATACACCTGAAAATCTTCGCCTGAAGCAGCAAAGTGAATTGCAGAGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114_MULTIEX1-3/44=C1-5
Average complexity
C1
Mappability confidence:
95%=100=96%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.260
Domain overlap (PFAM):
C1:
PF0041217=LIM=FE(54.4=100),PF047658=DUF616=PU(17.9=68.8)
A:
PF0041217=LIM=PD(5.6=15.0)
C2:
PF0041217=LIM=PD(10.5=20.7),PF047658=DUF616=FE(22.8=100),PF0088013=Nebulin=PU(55.2=55.2)
Main Inclusion Isoform:
ENST00000417816fB4616
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGGTCTGCAAGATGGCACTC
R:
CACTTTGCTGCTTCAGGCGAA
Band lengths:
139-196
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