HsaEX1025428 @ hg38
Exon Skipping
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:HGNC:16932]
Coordinates
chr10:20812769-20957815:-
Coord C1 exon
chr10:20957731-20957815
Coord A exon
chr10:20945338-20945425
Coord C2 exon
chr10:20812769-20812940
Length
88 bp
Sequences
Splice sites
3' ss Seq
TGTTCCTCCATTCTCTGAAGGTA
3' ss Score
8.85
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
Exon sequences
Seq C1 exon
GGGGAAGAGAAATATCAAATGAAGGGGAAAGAAACAAAAATCGACCAGATGACAAAATTGTGTGTTTTAAAGACTGACTGAAATG
Seq A exon
GTACCTTTTCTGAGCTTGACACTATCTTAGGAGCTGAGGGTACAAGATCTAAGCACAGCCGTCAATGCAGAACACAGAACGTAGCCTG
Seq C2 exon
GTAAAATACCATGAAGATTTTGAAAAAACAAAGGGGAGAGGCTTTACTCCCGTCGTGGACGATCCTGTGACAGAGAGAGTGAGGAAGAACACCCAGGTGGTCAGCGATGCTGCCTATAAAGGGGTCCACCCTCACATCGTGGAGATGGACAGGAGACCTGGAATCATTGTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114_MULTIEX1-12/44=10-42
Average complexity
C3
Mappability confidence:
86%=92=95%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.385 A=0.000 C2=0.455
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0088013=Nebulin=PD(37.9=19.0),PF0088013=Nebulin=WD(100=41.4)
Main Inclusion Isoform:
ENST00000417816fB20948
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
- HsaALTD0004262-1/2
- HsaALTD0004262-2/2
- HsaEX0042351
- HsaEX0042356
- HsaEX0042362
- HsaEX0042363
- HsaEX0042364
- HsaEX0042365
- HsaEX0042366
- HsaEX0042367
- HsaEX0042368
- HsaEX0042369
- HsaEX0042370
- HsaEX0042371
- HsaEX0042372
- HsaEX0042373
- HsaEX0042374
- HsaEX0042375
- HsaEX0042376
- HsaEX0042377
- HsaEX0042378
- HsaEX1025425
- HsaEX1025426
- HsaEX1025430
- HsaEX1025437
- HsaEX1025438
- HsaEX6087794
- HsaINT0112263
- HsaINT0112264
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:
CGACCAGATGACAAAATTGTGTGT
R:
TGGACCCCTTTATAGGCAGCA
Band lengths:
172-260
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains