Special

HsaINT0026579 @ hg19

Intron Retention

Gene
ENSG00000167535 | CACNB3
Description
calcium channel, voltage-dependent, beta 3 subunit [Source:HGNC Symbol;Acc:1403]
Coordinates
chr12:49217127-49217586:+
Coord C1 exon
chr12:49217127-49217249
Coord A exon
chr12:49217250-49217463
Coord C2 exon
chr12:49217464-49217586
Length
214 bp
Sequences
Splice sites
5' ss Seq
AAGGTATAC
5' ss Score
7.64
3' ss Seq
CTAATGGGCAAATTCTCCAGCAC
3' ss Score
1.46
Exon sequences
Seq C1 exon
GGTTCAGCCGACTCCTACACCAGCCGCCCATCTCTGGACTCAGACGTCTCCCTGGAGGAGGACCGGGAGAGTGCCCGGCGTGAAGTAGAGAGCCAGGCTCAGCAGCAGCTCGAAAGGGCCAAG
Seq A exon
GTATACTTTCTGGGCATGGGGCAAGACAGGAGGCCAAGCTAGGTGGAAACCTGCACTCGGTCCTAAGTCCCAAGGGGTCCTTGGGCAGGATGTCCTTGAGTGTGAGAGGGTGTGTGTGATGGGCAGAGGCCACGGCCTTCTGCTGTTGGGGCACTGAAGCTGGAAGGGGTGCTTCGAGCCTTCTCTCACTTGCACTAATGGGCAAATTCTCCAG
Seq C2 exon
CACAAACCTGTGGCATTTGCGGTGAGGACCAATGTCAGCTACTGTGGCGTACTGGATGAGGAGTGCCCAGTCCAGGGCTCTGGAGTCAACTTTGAGGCCAAAGATTTTCTGCACATTAAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167535-CACNB3:NM_000725:2
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.976 A=NA C2=0.024
Domain overlap (PFAM):

C1:
PF120523=VGCC_beta4Aa_N=PU(93.0=97.6)
A:
NA
C2:
PF120523=VGCC_beta4Aa_N=PD(2.3=2.4),PF0001823=SH3_1=PU(44.2=46.3)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GGTTCAGCCGACTCCTACACC
R:
CTTTAATGTGCAGAAAATCTTTGGCC
Band lengths:
244-458
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