HsaEX0042358 @ hg38
Exon Skipping
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:HGNC:16932]
Coordinates
chr10:20787202-20812940:-
Coord C1 exon
chr10:20812769-20812940
Coord A exon
chr10:20809806-20809898
Coord C2 exon
chr10:20787202-20787308
Length
93 bp
Sequences
Splice sites
3' ss Seq
TTTCTTCCTTTTGGCAAAAGACC
3' ss Score
2.07
5' ss Seq
CTGGTATTA
5' ss Score
2.14
Exon sequences
Seq C1 exon
GTAAAATACCATGAAGATTTTGAAAAAACAAAGGGGAGAGGCTTTACTCCCGTCGTGGACGATCCTGTGACAGAGAGAGTGAGGAAGAACACCCAGGTGGTCAGCGATGCTGCCTATAAAGGGGTCCACCCTCACATCGTGGAGATGGACAGGAGACCTGGAATCATTGTTG
Seq A exon
ACCTCAAAGTTTGGCGCACAGATCCTGGCTCCATCTTCGACCTTGATCCCCTGGAAGACAATATTCAGTCTAGAAGTCTCCATATGCTCTCTG
Seq C2 exon
CACCTGTTCTTCCCGGAGCCTATCAGCAAAGCCATTCCCAAGGCTATGGCTACATGCACCAGACCAGTGTGTCATCCATGAGATCAATGCAGCATTCACCAAATCTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114_MULTIEX1-43/44=42-C2
Average complexity
C2
Mappability confidence:
98%=98=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.455 A=0.156 C2=0.472
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=19.0),PF0088013=Nebulin=WD(100=41.4)
A:
NO
C2:
NO
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTGAGGAAGAACACCCAGGT
R:
TGGATGACACACTGGTCTGGT
Band lengths:
173-266
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