HsaINT0026550 @ hg38
Intron Retention
Gene
ENSG00000067191 | CACNB1
Description
calcium voltage-gated channel auxiliary subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:1401]
Coordinates
chr17:39184784-39185150:-
Coord C1 exon
chr17:39185131-39185150
Coord A exon
chr17:39184865-39185130
Coord C2 exon
chr17:39184784-39184864
Length
266 bp
Sequences
Splice sites
5' ss Seq
TCGGTGAGT
5' ss Score
11.11
3' ss Seq
CTCCCTGCTTCCCCCCCCAGACA
3' ss Score
11.48
Exon sequences
Seq C1 exon
CCAAACAGAAGCAGAAGTCG
Seq A exon
GTGAGTATCACAGCTTTCTGTGTCCTCCTCCCCACTCCCTGGGATGAGCTAGGGGGACCTTCTAACACCCATTCCCACATCTGTCCCCCATTTCCCCCACCCTTCCTGGTTCTCCCTGGCCATCCCTCCCCACCCCCACCCTGATCCCTACATCTGGGCTCTGGGACCAGGGTGGGGGAAGGCTGCATGGGGGAGCCTGGAGTCTGGGGGAGAGGATCTAATGTCATCTCCACTCTGGGGTTTCCCCTCCCTGCTTCCCCCCCCAG
Seq C2 exon
ACAGAGCATGTGCCCCCCTATGACGTGGTGCCTTCCATGAGGCCCATCATCCTGGTGGGACCGTCGCTCAAGGGCTACGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191:ENST00000394303:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=NA C2=0.218
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0062516=Guanylate_kin=PU(12.0=55.6)
Main Inclusion Isoform:
NA
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:
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