Special

HsaINT0026583 @ hg19

Intron Retention

Gene
ENSG00000167535 | CACNB3
Description
calcium channel, voltage-dependent, beta 3 subunit [Source:HGNC Symbol;Acc:1403]
Coordinates
chr12:49218732-49219026:+
Coord C1 exon
chr12:49218732-49218751
Coord A exon
chr12:49218752-49218945
Coord C2 exon
chr12:49218946-49219026
Length
194 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
3' ss Seq
ACCTCATGTCCATTCTGCAGGCG
3' ss Score
8.36
Exon sequences
Seq C1 exon
CCAAGCAGAAGCAAAAGCAG
Seq A exon
GTGAGTCAAGGAAGGGACCTGGGCTGGGGGGATCATGGCTTATGGCTCTGGGGACAGTGTTCTAGGCAGTCATTGTTGGAGGGCAGAACAGAGAGGGGAGGGAGCCCAGAACCTCTGGATCTGCCCTGACGCCAACCAGGCATGAGACAGGCACCAGGGCCATGGTTTCTACTGACCTCATGTCCATTCTGCAG
Seq C2 exon
GCGGAACATGTTCCCCCATATGACGTGGTGCCCTCCATGCGGCCTGTGGTGCTGGTGGGACCCTCTCTGAAAGGTTATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167535-CACNB3:NM_000725:6
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=NA C2=0.185
Domain overlap (PFAM):

C1:
PF0062516=Guanylate_kin=PU(3.5=85.7)
A:
NA
C2:
PF0062516=Guanylate_kin=PU(27.5=93.3),PF130921=CENP-L=PU(2.6=6.7)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAAGCAGAAGCAAAAGCAG
R:
ATAACCTTTCAGAGAGGGTCCCA
Band lengths:
98-292
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