HsaEX7007147 @ hg38
Exon Skipping
Gene
ENSG00000050405 | LIMA1
Description
LIM domain and actin binding 1 [Source:HGNC Symbol;Acc:HGNC:24636]
Coordinates
chr12:50181904-50192561:-
Coord C1 exon
chr12:50192452-50192561
Coord A exon
chr12:50185390-50185448
Coord C2 exon
chr12:50181904-50182037
Length
59 bp
Sequences
Splice sites
3' ss Seq
TTCCTGTTTGTCTCTTCCAGCTT
3' ss Score
10.97
5' ss Seq
AATGTGAGC
5' ss Score
5.2
Exon sequences
Seq C1 exon
GTGACTCCCAGGTTAAGAGTGAGGTTCAACAGCCTGTCCATCCCAAGCCACTAAGTCCAGATTCCAGAGCCTCCAGTCTTTCTGAAAGTTCTCCTCCCAAAGCAATGAAG
Seq A exon
CTTCTGCCTCCTGCTCCTGGTACCTAATTTCTGCTCCTGCCTTCCACTTTCCTCCTAAT
Seq C2 exon
AAGTTTCAGGCACCTGCAAGAGAGACCTGCGTGGAATGTCAGAAGACAGTCTATCCAATGGAGCGTCTCTTGGCCAACCAGCAGGTGTTTCACATCAGCTGCTTCCGTTGCTCCTATTGCAACAACAAACTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050405-'58-50,'58-47,62-50=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=1.000 A=1.000 C2=0.042
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0041217=LIM=PU(61.4=77.8)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGAGGTTCAACAGCCTGTCC
R:
CTGACATTCCACGCAGGTCTC
Band lengths:
134-193
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains