HsaEX0042366 @ hg19
Exon Skipping
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:16932]
Coordinates
chr10:21101698-21250708:-
Coord C1 exon
chr10:21250601-21250708
Coord A exon
chr10:21120402-21120512
Coord C2 exon
chr10:21101698-21101869
Length
111 bp
Sequences
Splice sites
3' ss Seq
GTATGTTTCATTTTCTGCAGAAA
3' ss Score
9.02
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
GTCAAGTACAAAAGAGATTTTGAAGAAAGCAAAGGGAGGGGCTTCAGCATCGTCACGGACACTCCTGAGCTACAGAGACTGAAGAGGACTCAGGAGCAAATCAGTAAT
Seq A exon
AAAGACTATAAAAGAGATCTGGAGACTGAAATTAAAGGGAAAGGGATGCAGGTGAGCACAGACACTCTTGATGTCCAGAGAGCTAAGAAAGCATCCGAGATGGCCAGCCAG
Seq C2 exon
GTAAAATACCATGAAGATTTTGAAAAAACAAAGGGGAGAGGCTTTACTCCCGTCGTGGACGATCCTGTGACAGAGAGAGTGAGGAAGAACACCCAGGTGGTCAGCGATGCTGCCTATAAAGGGGTCCACCCTCACATCGTGGAGATGGACAGGAGACCTGGAATCATTGTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114_MULTIEX3-13/22=C1-C2
Average complexity
C3*
Mappability confidence:
82%=100=83%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.389 A=0.730 C2=0.450
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(55.2=44.4)
A:
PF0088013=Nebulin=PD(37.9=29.7),PF0088013=Nebulin=PU(55.2=43.2)
C2:
PF0088013=Nebulin=PD(37.9=19.0),PF0088013=Nebulin=WD(100=41.4)
Other Inclusion Isoforms:
NA
Associated events
- HsaALTD0004262-1/2
- HsaALTD0004262-2/2
- HsaEX0042356
- HsaEX0042362
- HsaEX0042363
- HsaEX0042364
- HsaEX0042365
- HsaEX0042367
- HsaEX0042368
- HsaEX0042369
- HsaEX0042370
- HsaEX0042371
- HsaEX0042372
- HsaEX0042373
- HsaEX0042374
- HsaEX0042375
- HsaEX0042376
- HsaEX0042377
- HsaEX0042378
- HsaINT0112257
- HsaINT0112260
- HsaINT0112261
- HsaINT0112262
- HsaINT0112263
- HsaINT0112264
- HsaINT0112271
- HsaINT0112272
- HsaINT0112274
- HsaINT0112275
- HsaINT0112276
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGAAAGCAAAGGGAGGGGC
R:
GTCTCCTGTCCATCTCCACGA
Band lengths:
244-355
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
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)