Special

HsaEX6064475 @ hg19

Exon Skipping

Gene
ENSG00000151062 | CACNA2D4
Description
calcium channel, voltage-dependent, alpha 2/delta subunit 4 [Source:HGNC Symbol;Acc:20202]
Coordinates
chr12:2019072-2024101:-
Coord C1 exon
chr12:2024020-2024101
Coord A exon
chr12:2022189-2022305
Coord C2 exon
chr12:2019072-2019131
Length
117 bp
Sequences
Splice sites
3' ss Seq
CTCCCACTTTCCCCAAACAGAAG
3' ss Score
9.05
5' ss Seq
CAGGTACTC
5' ss Score
7.04
Exon sequences
Seq C1 exon
AGTGAAGCTATGGGCTGACACCTTCGGCGGGGACCTGTATAACACTGTGACCAAATACTCAGGCTCTCTCTTGCTGCAGAAG
Seq A exon
AAGTACAAGGATGTGGAGTCCAGTCTGAAGATCGAGGAGGTGGATGGCTTGGAGCTGGTGAGGAAGTTCTCAGAGGACATGGAGAACATGCTGCGGAGGAAAGTCGAGGCGGTCCAG
Seq C2 exon
AATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151062-'2-3,'2-2,3-3=AN
Average complexity
A_C1
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:
NO
A:
NO
C2:
PF083996=VWA_N=PU(12.0=70.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
GCTATGGGCTGACACCTTCG
R:
CACCAGGGATTCATTGAATTCGTG
Band lengths:
136-253
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains