HsaEX0002155 @ hg19
Exon Skipping
Gene
ENSG00000130402 | ACTN4
Description
actinin, alpha 4 [Source:HGNC Symbol;Acc:166]
Coordinates
chr19:39200897-39205201:+
Coord C1 exon
chr19:39200897-39200982
Coord A exon
chr19:39201916-39202001
Coord C2 exon
chr19:39205109-39205201
Length
86 bp
Sequences
Splice sites
3' ss Seq
TTCTCTCTCTCTCTGTGCAGATA
3' ss Score
13.12
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
ACATCGTGAACACGGCCCGGCCCGACGAGAAGGCCATAATGACCTATGTGTCCAGCTTCTACCATGCCTTTTCAGGAGCGCAGAAG
Seq A exon
ATATTGTGGGCACTCTGAGGCCAGATGAGAAGGCCATCATGACTTACGTGTCCTGCTTCTACCACGCTTTCTCGGGGGCTCAGAAG
Seq C2 exon
GCTGAAACTGCCGCCAACCGGATCTGTAAGGTGCTGGCTGTCAACCAAGAGAACGAGCACCTGATGGAGGACTACGAGAAGCTGGCCAGCGAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130402-'15-17,'15-15,16-17
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show structural model
Features
Disorder rate (disopred):
C1=0.000 A=0.103 C2=0.183
Domain overlap (PFAM):
C1:
PF0030726=CH=PD(23.1=82.8)
A:
PF0030726=CH=PD(34.3=82.8),PF131021=Phage_int_SAM_5=PU(4.5=13.8)
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
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CCCGACGAGAAGGCCATAATG
R:
CCAGCTTCTCGTAGTCCTCCA
Band lengths:
151-237
Functional annotations
There are 2 annotated functions for this event
PMID: 15122314
This event
HsaEX0002154 and HsaEX0002155 are mutually exclusive. Expression of the splice variant (containing H... [Show more]
PMID: 22887464
This event
[Disease association only]. Variant actinin-4 (with Hsa0002155 instead of Hsa0002154) was expressed ... [Show more]
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)