Special

HsaEX0012068 @ hg19

Exon Skipping

Gene
ENSG00000182389 | CACNB4
Description
calcium channel, voltage-dependent, beta 4 subunit [Source:HGNC Symbol;Acc:1404]
Coordinates
chr2:152689290-152698602:-
Coord C1 exon
chr2:152698417-152698602
Coord A exon
chr2:152698182-152698253
Coord C2 exon
chr2:152689290-152695893
Length
72 bp
Sequences
Splice sites
3' ss Seq
CTAATTATGATCTATCCTAGAGA
3' ss Score
4.77
5' ss Seq
TAGGTAAAT
5' ss Score
6.62
Exon sequences
Seq C1 exon
GAAATGTTTGATGTTATATTGGATGAAAATCAGCTTGAGGATGCATGTGAACATCTAGGGGAGTACCTGGAGGCGTACTGGCGTGCCACCCACACAACCAGTAGCACACCCATGACCCCGCTGCTGGGAAGGAATTTGGGCTCCACGGCACTCTCACCATATCCCACAGCAATTTCTGGGTTACAG
Seq A exon
AGAAAACTACCCAGAGACTGACAATTTCCTGAGAATTATGCTGTCTGTGAATTTACAGTGGATTTTACTTAG
Seq C2 exon
AGTCAGCGAATGAGGCACAGCAACCACTCCACAGAGAACTCTCCAATTGAAAGACGAAGTCTAATGACCTCTGATGAAAATTATCACAATGAAAGGGCTCGGAAGAGTAGGAACCGCTTGTCTTCCAGTTCTCAGCATAGCCGAGATCATTACCCTCTTGTGGAAGAAGATTACCCTGACTCATACCAGGACACTTACAAACCCCATAGGAACCGAGGATCACCTGGGGGATATAGCCATGACTCCCGACATAGGCTTTGAGTCTAATGAAACAAAAAATATTCATCTGTTGACAATTTGCCATAGCAGTGCTAGGATAAACCAATCATCTTAACTTGGCTAACATAGCACAGTATTTACTGTGCTAATGGGCTGCTGTCATTTTATGCTAAGTAAGGGGCAAAAAAAAAAATTACATTATGCCCTTGAGTCTAGATGGATATTAGATGCCCGATCATATAGATATTTTTAAGTGCAACATTTACATGATAACAGTACAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182389-'21-22,'21-21,22-22
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.371 A=0.333 C2=1.000
Domain overlap (PFAM):

C1:
PF0062516=Guanylate_kin=PD(13.8=40.3)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGGAAGGAATTTGGGCTCC
R:
GTTCCTACTCTTCCGAGCCCT
Band lengths:
177-249
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development