HsaEX1025425 @ 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
chr10:21100318-21100784
Coord C2 exon
chr10:20896958-20897029
Length
467 bp
Sequences
Splice sites
3' ss Seq
TCATTTCCACTTTTTCACAGGGA
3' ss Score
8.62
5' ss Seq
AAGGCAAGT
5' ss Score
3.24
Exon sequences
Seq C1 exon
TATTGGCATAAAGGATGTTTCCATTGTGAGGTCTGCAAGATGGCACTCAACATGAACAACTACAAAGGCTATGAAAAGAAGCCCTATTGTAATGC
Seq A exon
GGAAGAAACGGAGTCATGGAAGGATATAGAATGAAGTAGCTCTGTTCAACAAGGAAATCTGTAGCAAAACCAATCCTGGAAACCCAAACTAGGGGTTTGATATCCATCTCTTTGCCCATCAGGTCATATTTCTTTTGGAGAAAATTAGAAATGATCTAAAGAAAAAGGAAGAAAATTGAAGAACTTTCCTCCCCAAGCCCTGTATTAACAGAATCTACATTTTTCTGTTGATTGCACAGAGGTCAGCCCCCCAGGGTTCACGGGAAACTGGACGGCCTCATCCTCAGAGCCATGCTTTGCACTCTTTATCTTTTACACAGGGTGCAAAAGTGTTGCTTAGCAACATCGATTCTTCCAGCTCTAACAACTGCGGCAGCCCGCACAGCTGACAATGGAGCAGAGTTTGCGAGTGAGCTCCTCATTTTTCAGCTTCTTCACTGTGGCGAGAGGGAATAAAGAAAGAAAAG
Seq C2 exon
GTCTTCTATAAGCCTGTTATTGAAGACTTAAGCATGGAATTGGCCAGAAAATGCACGGAACTCATTAGCGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114_MULTIEX1-1/44=C1-16
Average complexity
ME(1-5[100=100])
Mappability confidence:
96%=100=94%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.018
Domain overlap (PFAM):
C1:
PF0041217=LIM=FE(54.4=100),PF047658=DUF616=PU(17.9=68.8)
A:
PF0041217=LIM=PD(7.3=33.3)
C2:
PF0088013=Nebulin=PU(55.2=66.7)
Main Inclusion Isoform:
ENST00000417816fB20945
Main Skipping Isoform:
ENST00000417816fB4616
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains