Special

HsaINT0026584 @ hg38

Intron Retention

Gene
ENSG00000167535 | CACNB3
Description
calcium voltage-gated channel auxiliary subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:1403]
Coordinates
chr12:48825163-48825492:+
Coord C1 exon
chr12:48825163-48825243
Coord A exon
chr12:48825244-48825433
Coord C2 exon
chr12:48825434-48825492
Length
190 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGA
5' ss Score
7.66
3' ss Seq
AGTGCCATGCCTTCCCCCAGGTC
3' ss Score
8.52
Exon sequences
Seq C1 exon
GCGGAACATGTTCCCCCATATGACGTGGTGCCCTCCATGCGGCCTGTGGTGCTGGTGGGACCCTCTCTGAAAGGTTATGAG
Seq A exon
GTGAGAGGAGGTCCTTGACCCCAAAGAGTCACCTCTACCAAGCCTGCCACAGGAAGTCCCTAGGGAAAGTGGAAGGGGTGTGTCTCCTCCGTCCAGGGTGTGTATGTGGAGCGCATTGACTCTGGGGCCATGCATGGGGAGGCTGCTTCTCTCCAAAGGGGCCCTTCATCAGTGCCATGCCTTCCCCCAG
Seq C2 exon
GTCACAGACATGATGCAGAAGGCTCTCTTCGACTTCCTCAAACACAGATTTGATGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167535:ENST00000301050:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.242 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0062516=Guanylate_kin=PU(11.5=93.3)
A:
NA
C2:
PF0062516=Guanylate_kin=FE(10.5=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTTCCCCCATATGACGTGGT
R:
TGCCATCAAATCTGTGTTTGAGGA
Band lengths:
131-321
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