HsaEX0002148 @ hg19
Exon Skipping
Gene
ENSG00000072110 | ACTN1
Description
actinin, alpha 1 [Source:HGNC Symbol;Acc:163]
Coordinates
chr14:69343799-69346825:-
Coord C1 exon
chr14:69346679-69346825
Coord A exon
chr14:69345175-69345240
Coord C2 exon
chr14:69343799-69343957
Length
66 bp
Sequences
Splice sites
3' ss Seq
GGTACCACTGCCCCCCACAGAAG
3' ss Score
4.21
5' ss Seq
ATGGTAACG
5' ss Score
6.05
Exon sequences
Seq C1 exon
CACATCCGTGTGGGCTGGGAGCAGCTGCTCACCACCATCGCCAGGACCATCAATGAGGTAGAGAACCAGATCCTGACCCGGGATGCCAAGGGCATCAGCCAGGAGCAGATGAATGAGTTCCGGGCCTCCTTCAACCACTTTGACCGG
Seq A exon
AAGAAGACAGGCATGATGGACACGGATGATTTCCGCGCCTGCCTGATCTCCATGGGTTACAACATG
Seq C2 exon
GGAGAAGCAGAATTTGCCCGCATCATGAGCATTGTGGACCCCAACCGCCTGGGGGTAGTGACATTCCAGGCCTTCATTGACTTCATGTCCCGCGAGACAGCCGACACAGATACAGCAGACCAAGTCATGGCTTCCTTCAAGATCCTGGCTGGGGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110_MULTIEX1-2/2=C1-C2
Average complexity
ME(1-2[99=100])
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.077 A=0.170 C2=0.079
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(31.3=42.9),PF088696=XisI=PD(42.9=73.5),PF0003627=EF-hand_1=PU(52.6=20.4)
A:
PF138331=EF-hand_8=PU(37.7=90.9)
C2:
PF052278=CHASE3=PD(8.4=16.7),PF0003627=EF-hand_1=WD(100=53.7),PF087265=EFhand_Ca_insen=PU(26.9=33.3)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGCCTCCTTCAACCACTTTG
R:
GCCAGGATCTTGAAGGAAGCC
Band lengths:
175-241
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)