Special

HsaEX6022307 @ hg38

Exon Skipping

Gene
Description
LIM and SH3 protein 1 [Source:HGNC Symbol;Acc:HGNC:6513]
Coordinates
chr17:38869859-38890504:+
Coord C1 exon
chr17:38869859-38870258
Coord A exon
chr17:38878086-38878180
Coord C2 exon
chr17:38890420-38890504
Length
95 bp
Sequences
Splice sites
3' ss Seq
CCTCCTGTCTCCATCCCCAGTTC
3' ss Score
10.59
5' ss Seq
CGCGTGAGT
5' ss Score
8.4
Exon sequences
Seq C1 exon
GCAGTCAGCCTGAGAGCGCTGAGGCGCCAGCACCGCGGGCCCCGCCGTCCCCCCAGGAACCCGCCCCCGCGCAGCCCCACGTCGCCCGGAGAGCGCGCCTCGCTGCGCGTGCCCTTGCCCGCGCCCGAGGCGCGTGCCCGCCCCAGTGCAGCCCCTCCTCCCCGCTGTGTTTATTAGGGGAAGGAGGGCGGAGGCGGAGGCCAGTTCCCCAGCTCCAGCCGCCGTCGCTGCTGCCTGTGTAGTTGCAGCCGCGGCCGCCTCCCGCCAGCTCGCCTCGGGGAACAGGACGCGCGTGAGCTCAGGCGTCCCCGCCCCAGCTTTTCTCGGAACCATGAACCCCAACTGCGCCCGGTGCGGCAAGATCGTGTATCCCACGGAGAAGGTGAACTGTCTGGATAAG
Seq A exon
TTCTGGCATAAAGCATGCTTCCATTGCGAGACCTGCAAGATGACACTGAACATGAAGAACTACAAGGGCTACGAGAAGAAGCCCTACTGCAACGC
Seq C2 exon
ACACTACCCCAAGCAGTCCTTCACCATGGTGGCGGACACCCCGGAAAACCTTCGCCTCAAGCAACAGAGTGAGCTCCAGAGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000002834-'0-11,'0-5,14-11
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.131 C2=0.579
Domain overlap (PFAM):

C1:
PF0041217=LIM=PU(31.6=78.3)
A:
PF0041217=LIM=FE(54.4=100)
C2:
PF0041217=LIM=PD(10.5=20.7),PF0088013=Nebulin=PU(55.2=55.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Primers PCR
Suggestions for RT-PCR validation
F:
CCCAGCTTTTCTCGGAACCAT
R:
TCTGGAGCTCACTCTGTTGCT
Band lengths:
168-263
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains