HsaEX6087794 @ hg19
Exon Skipping
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:16932]
Coordinates
chr10:21178774-21186531:-
Coord C1 exon
chr10:21186054-21186531
Coord A exon
chr10:21185887-21185958
Coord C2 exon
chr10:21178774-21178878
Length
72 bp
Sequences
Splice sites
3' ss Seq
TTTTCTTTTTTTTCAAATAGGTC
3' ss Score
11.75
5' ss Seq
GATGTAAGT
5' ss Score
9.11
Exon sequences
Seq C1 exon
CTTGAGTGTTAGAGCTGAGTAGTTTTCCCAGAATCTCTAAGTCCTTTTTATGCTCTTTTATGAATGAATAGAATTAGTAAAAGATAAATAAATTTTTTCTTTTGGATTTCTTAACCAGTGGAAAAAATGTTGACTTTAAAAGTTCATAAAATCAAATTTTGCTTAAGAATATGTTATTTCCACTTGTGAGGCCAGCCTGGTAGACCTCTGGGATCCTTTTCTGTTCACTCACACACCACTGAGATAAGGAGTGAAGTGTGGGCTAAATAGGGCTGAGGCTTGGGCAAGGGCATTTCTGCCAGAGCACCAGAGACGTCAGCATCTCAAGGGCACTGTGGTATGGAAAAGGACGCCACATGAGTAAATTTTAAAAATATAAATATTTTAAAGGGTAAAAATGAGGGTCCCTGTATTTGAGGATATAAAAGATGAAACTGAAGAAGAAAAGATAGGGGAAGAAGAAAATGAAGAAGACCAG
Seq A exon
GTCTTCTATAAGCCTGTTATTGAAGACTTAAGCATGGAATTGGCCAGAAAATGCACGGAACTCATTAGCGAT
Seq C2 exon
ATCCGTTATAAAGAAGAGTTTAAAAAGTCCAAGGATAAGTGTACATTTGTGACTGACAGTCCTATGCTAAACCATGTAAAAAATATCGGTGCTTTTATTTCTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114-'8-10,'8-9,9-10=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.444 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0088013=Nebulin=PU(55.2=66.7)
C2:
PF0088013=Nebulin=PD(37.9=31.4)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
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:
AGGGTAAAAATGAGGGTCCCTGT
R:
ACATGGTTTAGCATAGGACTGTCA
Band lengths:
167-239
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)