HsaINT0026542 @ hg19
Intron Retention
Gene
ENSG00000067191 | CACNB1
Description
calcium channel, voltage-dependent, beta 1 subunit [Source:HGNC Symbol;Acc:1401]
Coordinates
chr17:37339966-37340393:-
Coord C1 exon
chr17:37340284-37340393
Coord A exon
chr17:37340118-37340283
Coord C2 exon
chr17:37339966-37340117
Length
166 bp
Sequences
Splice sites
5' ss Seq
TGGGTGAGC
5' ss Score
7.23
3' ss Seq
ACATGACTCCATGCCCCCAGCTG
3' ss Score
5.47
Exon sequences
Seq C1 exon
GATCTCCATCACTCGTGTGACGGCAGATATTTCCCTGGCTAAGCGCTCAGTTCTCAACAACCCCAGCAAACACATCATCATTGAGCGCTCCAACACACGCTCCAGCCTGG
Seq A exon
GTGAGCCTACTCCTGCTGTCTTCACTCCCCCTTTCTGGGCCGGATGTGGGAGGGGTGGGAGGTGTGGGAGGTAGTGGGCAGGGCCATCTCCAGAAGTGTTCCCTCCACCTGCTGTTCCTGGGAGGCCACCTGACATTCCCCCATCCACATGACTCCATGCCCCCAG
Seq C2 exon
CTGAGGTGCAGAGTGAAATCGAGCGAATCTTCGAGCTGGCCCGGACCCTTCAGTTGGTCGCTCTGGATGCTGACACCATCAATCACCCAGCCCAGCTGTCCAAGACCTCGCTGGCCCCCATCATTGTTTACATCAAGATCACCTCTCCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191-CACNB1:NM_000723:10
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.039 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0062516=Guanylate_kin=FE(20.4=100)
A:
NA
C2:
PF0062516=Guanylate_kin=FE(27.6=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACTCGTGTGACGGCAGATAT
R:
TGGGAGAGGTGATCTTGATGT
Band lengths:
251-417
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)