HsaEX6022305 @ hg38
Exon Skipping
Gene
ENSG00000002834 | LASP1
Description
LIM and SH3 protein 1 [Source:HGNC Symbol;Acc:HGNC:6513]
Coordinates
chr17:38890420-38914475:+
Coord C1 exon
chr17:38890420-38890504
Coord A exon
chr17:38898412-38898519
Coord C2 exon
chr17:38914325-38914475
Length
108 bp
Sequences
Splice sites
3' ss Seq
CTCTTCCTCCCCTCCTGCAGGTG
3' ss Score
12.98
5' ss Seq
AACGTGAGC
5' ss Score
6.06
Exon sequences
Seq C1 exon
ACACTACCCCAAGCAGTCCTTCACCATGGTGGCGGACACCCCGGAAAACCTTCGCCTCAAGCAACAGAGTGAGCTCCAGAGTCAG
Seq A exon
GTGCGCTACAAGGAGGAGTTTGAGAAGAACAAGGGCAAAGGTTTCAGCGTAGTGGCAGACACGCCCGAGCTCCAGAGAATCAAGAAGACCCAGGACCAGATCAGTAAC
Seq C2 exon
ATAAAATACCATGAGGAGTTTGAGAAGAGCCGCATGGGCCCTAGCGGGGGCGAGGGCATGGAGCCAGAGCGTCGGGATTCACAGGACGGCAGCAGCTACCGGCGGCCCCTGGAGCAGCAGCAGCCTCACCACATCCCGACCAGTGCCCCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000002834_MULTIEX1-3/3=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.579 A=0.727 C2=1.000
Domain overlap (PFAM):
C1:
PF0041217=LIM=PD(10.5=20.7),PF0088013=Nebulin=PU(55.2=55.2)
A:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(55.2=44.4)
C2:
PF0088013=Nebulin=PD(37.9=21.6)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACACTACCCCAAGCAGTCCTT
R:
GGGGCACTGGTCGGGATG
Band lengths:
234-342
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains