Special

HsaINT0026597 @ hg19

Intron Retention

Gene
ENSG00000182389 | CACNB4
Description
calcium channel, voltage-dependent, beta 4 subunit [Source:HGNC Symbol;Acc:1404]
Coordinates
chr2:152727045-152727375:-
Coord C1 exon
chr2:152727356-152727375
Coord A exon
chr2:152727126-152727355
Coord C2 exon
chr2:152727045-152727125
Length
230 bp
Sequences
Splice sites
5' ss Seq
GTGGTAAGT
5' ss Score
10.36
3' ss Seq
TGTCGAATCATCTTTTTCAGACG
3' ss Score
6.89
Exon sequences
Seq C1 exon
CAAAACAGAAGCAAAAAGTG
Seq A exon
GTAAGTTGTGTTTCCTTTTTAAATCTACTGTTAAGGTTCCTATATATACATGCCTGCAATGCTCCATTTCAGTGACCCAAGTGGCTATAAAATAAGGGAAGAGCCTCCTCGGTGGGGACTTTGATAATCATTTGTCGTTCAACCTGAGAATTATGAAATTATGAATGTTGTGGCTGTGGAGAGGCATGCTCAACCTCACCTTGTCACGCGTGTCGAATCATCTTTTTCAG
Seq C2 exon
ACGGAGCACATTCCTCCTTACGATGTTGTACCGTCAATGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182389-CACNB4:NM_000726:7
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=0.111
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF0062516=Guanylate_kin=PU(7.4=55.6)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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