HsaEX0042359 @ hg38
Exon Skipping
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:HGNC:16932]
Coordinates
chr10:20787202-20809898:-
Coord C1 exon
chr10:20809806-20809898
Coord A exon
chr10:20808510-20808659
Coord C2 exon
chr10:20787202-20787308
Length
150 bp
Sequences
Splice sites
3' ss Seq
ATATTTTCCCTCCAATATAGAAA
3' ss Score
7.37
5' ss Seq
GAGGTATCA
5' ss Score
6.35
Exon sequences
Seq C1 exon
ACCTCAAAGTTTGGCGCACAGATCCTGGCTCCATCTTCGACCTTGATCCCCTGGAAGACAATATTCAGTCTAGAAGTCTCCATATGCTCTCTG
Seq A exon
AAAAGGCGAGTCACTATAGGCGACACTGGTCTCGATCCCATTCCAGCAGTACTTTCGGTACAGGTCTCGGAGACGACAGGTCAGAAATCTCCGAGATTTACCCTAGCTTTTCATGCTGCAGTGAGGTAACAAGACCGTCTGATGAAGGAG
Seq C2 exon
CACCTGTTCTTCCCGGAGCCTATCAGCAAAGCCATTCCCAAGGCTATGGCTACATGCACCAGACCAGTGTGTCATCCATGAGATCAATGCAGCATTCACCAAATCTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114_MULTIEX1-44/44=43-C2
Average complexity
C2
Mappability confidence:
98%=98=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.156 A=0.176 C2=0.472
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
ENST00000417816fB4616
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCTCAAAGTTTGGCGCACAG
R:
TGGTGAATGCTGCATTGATCTCA
Band lengths:
194-344
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