HsaINT0026586 @ hg19
Intron Retention
Gene
ENSG00000167535 | CACNB3
Description
calcium channel, voltage-dependent, beta 3 subunit [Source:HGNC Symbol;Acc:1403]
Coordinates
chr12:49219443-49220301:+
Coord C1 exon
chr12:49219443-49219552
Coord A exon
chr12:49219553-49220149
Coord C2 exon
chr12:49220150-49220301
Length
597 bp
Sequences
Splice sites
5' ss Seq
TTGGTGAGA
5' ss Score
6.29
3' ss Seq
GCTGCTGCCTCCCTCCATAGCGG
3' ss Score
9.18
Exon sequences
Seq C1 exon
GATCTCCATCACCCGAGTCACAGCCGACCTCTCCCTGGCAAAGCGATCTGTGCTCAACAATCCGGGCAAGAGGACCATCATTGAGCGCTCCTCTGCCCGCTCCAGCATTG
Seq A exon
GTGAGAAGTCCCCACCACCTGCTTCTGTGCCCACTCAAGTGCCAGTGAGAACCTTCCTCCTCCCTTTTCTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATCTTCCCATCTCAGCCTCCTGAGTAGCCGGGACTACAGGCGCCCATCACCACGCCCAGCTAATTTTTGCATTTTTAGTAGACGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCGGCCCACCTTGGCCTCTCAAAATGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCCCTCTTCCCTTTTCTCTTCCTTACCTCCTTGTCTTTCTGCCCAACTCCTCTACCTGCCCCCAGGATTGGCAAGAACACACCCCTCCTCCTCAATTCCCATTCCTCTGCCTGTCCAGGCTTCGATGAATGCCCTTTTCCTCCAATTCCTTCCTGTCCACCATTCGGGAGCCCTCAAAGCCTGCTGGAGTGAGCAGTGGGCAGAGCTCCTGGTGAGCACTGCTGCTGCCTCCCTCCATAG
Seq C2 exon
CGGAAGTGCAGAGTGAGATCGAGCGCATATTTGAGCTGGCCAAATCCCTGCAGCTAGTAGTGTTGGACGCTGACACCATCAACCACCCAGCACAGCTGGCCAAGACCTCGCTGGCCCCCATCATCGTCTTTGTCAAAGTGTCCTCACCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167535-CACNB3:NM_000725:9
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.105 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0062516=Guanylate_kin=PD(31.4=76.2),PF130921=CENP-L=PD(43.6=81.0)
A:
NA
C2:
PF0062516=Guanylate_kin=FE(27.6=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATCTCCATCACCCGAGTCAC
R:
CTTTGGTGAGGACACTTTGACA
Band lengths:
262-859
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
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)