HsaEX0035807 @ hg38
Exon Skipping
Gene
ENSG00000050405 | LIMA1
Description
LIM domain and actin binding 1 [Source:HGNC Symbol;Acc:HGNC:24636]
Coordinates
chr12:50200777-50204700:-
Coord C1 exon
chr12:50204552-50204700
Coord A exon
chr12:50201303-50201324
Coord C2 exon
chr12:50200777-50200884
Length
22 bp
Sequences
Splice sites
3' ss Seq
ATCCCTGTCTCTCTTTCCAGGCC
3' ss Score
13.02
5' ss Seq
ATGGTCAGT
5' ss Score
6.57
Exon sequences
Seq C1 exon
GTCAGTTGTCATCTTCTACATTTGACTCGGAGAAAAATGAGAGTAGACGAAATCTGGAACTTCCACGCCTCTCAGAAACCTCTATAAAGGATCGAATGGCCAAGTACCAGGCAGCTGTGTCCAAACAAAGCAGCTCAACCAACTATACA
Seq A exon
GCCGGGCATTTATATATGTATG
Seq C2 exon
AATGAGCTGAAAGCCAGTGGTGGCGAAATCAAAATTCATAAAATGGAGCAAAAGGAGAATGTGCCCCCAGGTCCTGAGGTCTGCATCACCCATCAGGAAGGGGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050405-'44-37,'44-34,49-37=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.978 A=0.125 C2=0.975
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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:
AGGCAGCTGTGTCCAAACAAA
R:
GGGGCACATTCTCCTTTTGCT
Band lengths:
108-130
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