HsaEX6064478 @ hg38
Exon Skipping
Gene
ENSG00000151062 | CACNA2D4
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Source:HGNC Symbol;Acc:HGNC:20202]
Coordinates
chr12:1887009-1908037:-
Coord C1 exon
chr12:1907875-1908037
Coord A exon
chr12:1907440-1907571
Coord C2 exon
chr12:1887009-1887069
Length
132 bp
Sequences
Splice sites
3' ss Seq
TCTATAGTCTCACCCTTCAGACC
3' ss Score
5.88
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
Exon sequences
Seq C1 exon
TTCGACTATTACAACTCGGTCCTGATCAACGAGAGGGACGAGAAGGGCAACTTCGTGGAGCTGGGCGCCGAGTTCCTCCTGGAGTCCAATGCTCACTTCAGCAACCTGCCGGTGAACACCTCCATCAGCAGCGTGCAGCTGCCCACCAACGTGTACAACAAAG
Seq A exon
ACCCAGATATTTTAAATGGAGTCTACATGTCTGAAGCCTTGAATGCTGTCTTCGTGGAGAACTTCCAGAGAGACCCAACGTTGACCTGGCAATATTTTGGCAGTGCAACTGGATTCTTCAGGATCTATCCAG
Seq C2 exon
GTATAAAATGGACACCTGATGAGAATGGAGTCATTACTTTTGACTGCCGAAACCGCGGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151062-'6-13,'6-12,7-13=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF083996=VWA_N=FE(46.2=100)
A:
PF083996=VWA_N=FE(37.6=100)
C2:
PF083996=VWA_N=PD(2.6=14.3)
Main Skipping Isoform:
NA
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:
TCGACTATTACAACTCGGTCCTGA
R:
GCGGTTTCGGCAGTCAAAAGT
Band lengths:
218-350
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains