HsaEX0002156 @ hg19
Exon Skipping
Gene
ENSG00000130402 | ACTN4
Description
actinin, alpha 4 [Source:HGNC Symbol;Acc:166]
Coordinates
chr19:39201916-39205201:+
Coord C1 exon
chr19:39201916-39202001
Coord A exon
chr19:39204349-39204426
Coord C2 exon
chr19:39205109-39205201
Length
78 bp
Sequences
Splice sites
3' ss Seq
CCTTCCCCATCACTCTGTAGACC
3' ss Score
8.76
5' ss Seq
AAGGTACCT
5' ss Score
8.49
Exon sequences
Seq C1 exon
ATATTGTGGGCACTCTGAGGCCAGATGAGAAGGCCATCATGACTTACGTGTCCTGCTTCTACCACGCTTTCTCGGGGGCTCAGAAG
Seq A exon
ACCCTCCTCACTCTTTCTGTTCCTGTTCTGTTGCCGTTTCAACTCCTCCTCTTGGACCCTTTCTGTGCTTCCTGAAAG
Seq C2 exon
GCTGAAACTGCCGCCAACCGGATCTGTAAGGTGCTGGCTGTCAACCAAGAGAACGAGCACCTGATGGAGGACTACGAGAAGCTGGCCAGCGAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130402-'16-17,'16-16,17-17
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
5' UTR
No structure available
Features
Disorder rate (disopred):
C1=0.103 A=1.000 C2=0.183
Domain overlap (PFAM):
C1:
PF0030726=CH=PD(34.3=82.8),PF131021=Phage_int_SAM_5=PU(4.5=13.8)
A:
NO
C2:
PF131021=Phage_int_SAM_5=FE(34.1=100),PF0043516=Spectrin=PU(12.4=35.5),PF0103115=Dynamin_M=PU(21.1=48.4)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATATTGTGGGCACTCTGAGGC
R:
CCAGCTTCTCGTAGTCCTCCA
Band lengths:
171-249
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- 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)