Special

HsaEX0012040 @ hg38

Exon Skipping

Gene
ENSG00000151062 | CACNA2D4
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Source:HGNC Symbol;Acc:HGNC:20202]
Coordinates
chr12:1800386-1801644:-
Coord C1 exon
chr12:1801574-1801644
Coord A exon
chr12:1801043-1801118
Coord C2 exon
chr12:1800386-1800438
Length
76 bp
Sequences
Splice sites
3' ss Seq
AGCCCGCTTCTGATTTTCAGAGT
3' ss Score
6.9
5' ss Seq
AGCGTGAGT
5' ss Score
8.2
Exon sequences
Seq C1 exon
ACGGGAAGATTTCTGGGGGAGGTGGATGGTGCTGTCCTGACCCAGCTGCTCAGCATGGGGGTGTTCAGCCA
Seq A exon
AGTGACTATGTATGACTATCAGGCCATGTGCAAACCCTCGAGTCACCACCACAGTGCAGCCCAGCCCCTGGTCAGC
Seq C2 exon
CCAATTTCTGCCTTCTTGACGGCGACCAGGTGGCTGCTGCAGGAGCTGGTGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151062-'53-78,'53-76,55-78=AN
Average complexity
A_C1
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:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
GGGAAGATTTCTGGGGGAGGT
R:
CTCCTGCAGCAGCCACCT
Band lengths:
114-190
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development