HsaEX0035806 @ hg38
Exon Skipping
Gene
ENSG00000050405 | LIMA1
Description
LIM domain and actin binding 1 [Source:HGNC Symbol;Acc:HGNC:24636]
Coordinates
chr12:50181904-50195887:-
Coord C1 exon
chr12:50195830-50195887
Coord A exon
chr12:50192452-50192564
Coord C2 exon
chr12:50181904-50182037
Length
113 bp
Sequences
Splice sites
3' ss Seq
TCTTCCTTTTGTAACTCAAGCAG
3' ss Score
1.76
5' ss Seq
AAGGTATGA
5' ss Score
9.11
Exon sequences
Seq C1 exon
ATTTCTGCAAATGAGAATAGCCTGGCAGTCCGTTCCACCCCTGCCGAAGATGACTCCC
Seq A exon
CAGGTGACTCCCAGGTTAAGAGTGAGGTTCAACAGCCTGTCCATCCCAAGCCACTAAGTCCAGATTCCAGAGCCTCCAGTCTTTCTGAAAGTTCTCCTCCCAAAGCAATGAAG
Seq C2 exon
AAGTTTCAGGCACCTGCAAGAGAGACCTGCGTGGAATGTCAGAAGACAGTCTATCCAATGGAGCGTCTCTTGGCCAACCAGCAGGTGTTTCACATCAGCTGCTTCCGTTGCTCCTATTGCAACAACAAACTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050405-'55-50,'55-43,58-50
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.955 A=1.000 C2=0.042
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0041217=LIM=PU(61.4=77.8)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCAAATGAGAATAGCCTGGCA
R:
TGAGTTTGTTGTTGCAATAGGAGC
Band lengths:
186-299
Functional annotations
There are 1 annotated functions for this event
PMID: 17875928
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: classical fluorescence spectroscopy, detection by mass spectrometry, mutation analysis, protein kinase assay, western blot. ELM ID: ELMI001447; ELM sequence: KPLSPDA; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development