HsaEX6064480 @ hg19
Exon Skipping
Gene
ENSG00000151062 | CACNA2D4
Description
calcium channel, voltage-dependent, alpha 2/delta subunit 4 [Source:HGNC Symbol;Acc:20202]
Coordinates
chr12:1995131-1996235:-
Coord C1 exon
chr12:1996175-1996235
Coord A exon
chr12:1995389-1995539
Coord C2 exon
chr12:1995131-1995205
Length
151 bp
Sequences
Splice sites
3' ss Seq
ATGTCCCTTTCTTCCTTCAGGTA
3' ss Score
12.9
5' ss Seq
GCGGTAAAT
5' ss Score
6.76
Exon sequences
Seq C1 exon
GTATAAAATGGACACCTGATGAGAATGGAGTCATTACTTTTGACTGCCGAAACCGCGGCTG
Seq A exon
GTACATTCAAGCTGCTACTTCTCCCAAGGACATAGTGATTTTGGTGGACGTGAGCGGCAGTATGAAGGGGCTGAGGATGACTATTGCCAAGCACACCATCACCACCATCTTGGACACCCTGGGGGAGAATGACTTCATTAATATCATAGCG
Seq C2 exon
TACAATGACTACGTCCATTACATCGAGCCTTGTTTTAAAGGGATCCTCGTCCAGGCGGACCGAGACAATCGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151062-'7-8,'7-7,8-8=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF083996=VWA_N=PD(2.6=14.3)
A:
PF137681=VWA_3=PU(24.7=80.4)
C2:
PF137681=VWA_3=FE(14.5=100)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATAAAATGGACACCTGATGAGAATGG
R:
CGATTGTCTCGGTCCGCCT
Band lengths:
130-281
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)