HsaEX6087793 @ hg38
Exon Skipping
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:HGNC:16932]
Coordinates
chr10:21020117-21174187:-
Coord C1 exon
chr10:21173765-21174187
Coord A exon
chr10:21172383-21172477
Coord C2 exon
chr10:21020117-21020201
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-'0-10,'0-1,7-10=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.260
Domain overlap (PFAM):
C1:
PF0041217=LIM=PU(31.6=78.3)
A:
PF0041217=LIM=FE(54.4=100),PF047658=DUF616=PU(17.9=68.8)
C2:
PF0041217=LIM=PD(10.5=20.7),PF047658=DUF616=FE(22.8=100),PF0088013=Nebulin=PU(55.2=55.2)
Main Skipping Isoform:
ENST00000417816fB20944
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
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