HsaEX0042351 @ hg38
Exon Skipping
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:HGNC:16932]
Coordinates
chr10:20896958-21172477:-
Coord C1 exon
chr10:21172383-21172477
Coord A exon
chr10:21020117-21020201
Coord C2 exon
chr10:20896958-20897029
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
GTCTTCTATAAGCCTGTTATTGAAGACTTAAGCATGGAATTGGCCAGAAAATGCACGGAACTCATTAGCGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114_MULTIEX1-5/44=C1-16
Average complexity
ME(1-5[100=100])
Mappability confidence:
95%=100=96%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.260 C2=0.018
Domain overlap (PFAM):
C1:
PF0041217=LIM=FE(54.4=100),PF047658=DUF616=PU(17.9=68.8)
A:
PF0041217=LIM=PD(10.5=20.7),PF047658=DUF616=FE(22.8=100),PF0088013=Nebulin=PU(55.2=55.2)
C2:
PF0088013=Nebulin=PU(55.2=66.7)
Main Skipping Isoform:
ENST00000417816fB20953
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TATTGGCATAAAGGATGTTTCCATTG
R:
ATCGCTAATGAGTTCCGTGCA
Band lengths:
167-252
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