Special

HsaINT0026586 @ hg38

Intron Retention

Gene
ENSG00000167535 | CACNB3
Description
calcium voltage-gated channel auxiliary subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:1403]
Coordinates
chr12:48825660-48826518:+
Coord C1 exon
chr12:48825660-48825769
Coord A exon
chr12:48825770-48826366
Coord C2 exon
chr12:48826367-48826518
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:ENST00000301050:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.089 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0062516=Guanylate_kin=PD(31.4=76.2)
A:
NA
C2:
PF0062516=Guanylate_kin=FE(27.6=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
ALTERNATIVE
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