HsaEX0042370 @ hg38
Exon Skipping
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:HGNC:16932]
Coordinates
chr10:20817600-20819516:-
Coord C1 exon
chr10:20819424-20819516
Coord A exon
chr10:20818704-20818834
Coord C2 exon
chr10:20817600-20817692
Length
131 bp
Sequences
Splice sites
3' ss Seq
TTCACATTTCCTTGTTGAAGGGC
3' ss Score
6.27
5' ss Seq
TGGGTAAGA
5' ss Score
8.91
Exon sequences
Seq C1 exon
CTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCG
Seq A exon
GGCATGAACTGCGTGTCCAGGAAATTTGGGACTGTGTTGCTGTACCTTAGCTGTGTTTGCTTATTCAAGAGATCTTCATTAAGTACCCAAATGTACTGGGCATTGTCCTGGTCACCCAGACACAAAGATGG
Seq C2 exon
GTAAAATATAAGGGAGAACTTCAACGGGGAACTGCAATTTCTGATCCACCAGAGCTGAAGAGGGCAAAAGAAAACCAGAAAAACATCAGCAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114_MULTIEX1-38/44=37-39
Average complexity
C2
Mappability confidence:
85%=98=88%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.880 A=0.000 C2=0.966
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(35.7=32.3),PF0088013=Nebulin=PU(55.2=51.6)
A:
NO
C2:
PF0088013=Nebulin=PD(37.9=35.5),PF0088013=Nebulin=PU(57.1=51.6)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
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:
CTCCAGTATAAAGAGCAAAACTACAA
R:
ATTGCTGATGTTTTTCTGGTTTTCT
Band lengths:
186-317
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