HsaEX1025424 @ hg38
Exon Skipping
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:HGNC:16932]
Coordinates
chr10:21172383-21174187:-
Coord C1 exon
chr10:21173765-21174187
Coord A exon
chr10:21172708-21172840
Coord C2 exon
chr10:21172383-21172477
Length
133 bp
Sequences
Splice sites
3' ss Seq
CCTACAAACCCTGCATTTAGACA
3' ss Score
3.53
5' ss Seq
ATGGTGCGT
5' ss Score
8.27
Exon sequences
Seq C1 exon
CCTGCGCGGCGGCGGCGGCGAGGCGGGGGAGCGAGTGAGCGCGAGGGGCGGGCGCGAGTGACTGTGTGAGTCACCCGTACCTGGAGTGCGAGCGACGCAGAGCCAGCGGCGCGGAGCCGGAGCCGGAGCCGAGACCCAGCGCCTGCGAGCCCGAGAGCGCGGCCGGCCCCAGGCGCCAGGCCCCGTCGCCCTCCCCGTGCACTCACCCGTGGCCCGGCGCCGACTCCCTACCCGGCGCCCGCCGCCCGCAGCCCTCCCGCCTGCCAGGAGGCGGTGCGGGGCTCGCCGGGGGATGTCACAGCGGCTCCTGGGAGCCAGCAGCCGCCGCCGCCGCCGCCCCCGGGAACCGCGATCATGAACCCCCAGTGCGCCCGTTGCGGAAAAGTCGTGTATCCCACCGAGAAAGTCAACTGCCTGGATAAG
Seq A exon
ACACTTTGAACTGGATTCCTTTTGGTTTCGAAGCCACTCTCTGGGCCCCGTTTCTTCATTAACCGAGCTCAGAAATCGTTTCTGGCTGCTCAAAGAAGTGCTGTTTCGACAGAACCTTGACAGTTCGTCCATG
Seq C2 exon
TATTGGCATAAAGGATGTTTCCATTGTGAGGTCTGCAAGATGGCACTCAACATGAACAACTACAAAGGCTATGAAAAGAAGCCCTATTGTAATGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114_CASSETTE1
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0041217=LIM=PU(31.6=78.3)
A:
NO
C2:
PF0041217=LIM=FE(54.4=100),PF047658=DUF616=PU(17.9=68.8)
Main Inclusion Isoform:
ENST00000417816fB20944
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:
CTCGCCGGGGGATGTCAC
R:
GCATTACAATAGGGCTTCTTTTCA
Band lengths:
237-370
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains