Special

HsaEX6064485 @ hg38

Exon Skipping

Gene
ENSG00000151062 | CACNA2D4
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Source:HGNC Symbol;Acc:HGNC:20202]
Coordinates
chr12:1879804-1884321:-
Coord C1 exon
chr12:1884243-1884321
Coord A exon
chr12:1882867-1883000
Coord C2 exon
chr12:1879804-1879881
Length
134 bp
Sequences
Splice sites
3' ss Seq
CGCGGCCTTCCCCACCGCAGGCT
3' ss Score
9.45
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GTCCGAGTTTTCACTTACCTCATTGGGAGAGAAGTGTCTTTTGCTGACCGCATGAAGTGGATTGCATGCAACAACAAAG
Seq A exon
GCTACTACACGCAGATCTCAACGCTGGCGGACACCCAGGAGAACGTGATGGAATACCTGCACGTGCTCAGCCGCCCCATGGTCATCAACCACGACCACGACATCATCTGGACAGAGGCCTACATGGACAGCAAG
Seq C2 exon
CTCCTCAGCTCGCAGGCTCAGAGCCTGACACTGCTCACCACTGTGGCCATGCCAGTCTTCAGCAAGAAGAACGAAACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151062-'15-24,'15-22,19-24=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=0.098 C2=0.103
Domain overlap (PFAM):

C1:
PF137681=VWA_3=PD(15.5=92.6)
A:
PF137681=VWA_3=PD(2.4=8.9),PF0274313=Cache_1=PU(12.1=17.8)
C2:
PF0274313=Cache_1=FE(26.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
GTCCGAGTTTTCACTTACCTCA
R:
CGTTTCGTTCTTCTTGCTGAA
Band lengths:
157-291
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains