HsaEX0042370 @ 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
chr10:21107633-21107763
Coord C2 exon
chr10:21101698-21101869
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
GTCAAGTACAAAAGAGATTTTGAAGAAAGCAAAGGGAGGGGCTTCAGCATCGTCACGGACACTCCTGAGCTACAGAGACTGAAGAGGACTCAGGAGCAAATCAGTAAT
Seq A exon
GGCATGAACTGCGTGTCCAGGAAATTTGGGACTGTGTTGCTGTACCTTAGCTGTGTTTGCTTATTCAAGAGATCTTCATTAAGTACCCAAATGTACTGGGCATTGTCCTGGTCACCCAGACACAAAGATGG
Seq C2 exon
GTAAAATACCATGAAGATTTTGAAAAAACAAAGGGGAGAGGCTTTACTCCCGTCGTGGACGATCCTGTGACAGAGAGAGTGAGGAAGAACACCCAGGTGGTCAGCGATGCTGCCTATAAAGGGGTCCACCCTCACATCGTGGAGATGGACAGGAGACCTGGAATCATTGTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114_MULTIEX3-19/22=C1-C2
Average complexity
C2
Mappability confidence:
78%=100=80%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.389 A=0.000 C2=0.450
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(55.2=44.4)
A:
PF083957=7tm_7=PD(44.7=95.5)
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
- HsaEX0042366
- HsaEX0042367
- HsaEX0042368
- HsaEX0042369
- HsaEX0042371
- HsaEX0042372
- HsaEX0042373
- HsaEX0042374
- HsaEX0042375
- HsaEX0042376
- HsaEX0042377
- HsaEX0042378
- HsaINT0112257
- HsaINT0112260
- HsaINT0112261
- HsaINT0112262
- HsaINT0112263
- HsaINT0112264
- HsaINT0112271
- HsaINT0112272
- HsaINT0112274
- HsaINT0112275
- HsaINT0112276
Other assemblies
Conservation
Rat
(rn6)
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:
GAAGAAAGCAAAGGGAGGGGC
R:
GTCTCCTGTCCATCTCCACGA
Band lengths:
244-375
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)