Special

HsaINT1006211 @ hg38

Intron Retention

Gene
ENSG00000182389 | CACNB4
Description
calcium voltage-gated channel auxiliary subunit beta 4 [Source:HGNC Symbol;Acc:HGNC:1404]
Coordinates
chr2:152098330-152099475:-
Coord C1 exon
chr2:152098949-152099475
Coord A exon
chr2:152098414-152098948
Coord C2 exon
chr2:152098330-152098413
Length
535 bp
Sequences
Splice sites
5' ss Seq
CAGGTACCG
5' ss Score
10.05
3' ss Seq
CCCCCGTGTGTCGAGTCCAGGTG
3' ss Score
6.09
Exon sequences
Seq C1 exon
ACACACACACACACACCCGCTCGGTTCTTCCCATTCCCGCCACACTGCACCAGCTTCCGTCCCCAAGTCCTGATTCATGAACCGTGCCACCTTTGTCTCATTTTAAACTGTGCAGACTATTTTAATCTTGCCACCCCCATCCCAGATTTCCCCCTCCCTTCATCCTCTGGAAGCTCTGATGTAAAGCGCTTGCTAGGTGGGAGAGCGCTTCTCCCAATCCGCTCGGGTAGGCGAGTTTCCGAGAAGCCCCCTCCCCGGGACCCCGCCGCGAGCGCGGGGGAAGCGCCTCGGTCCCTTTAAGGTGCCGCGCTCTCCGAAGTGCGGGCAGGGAGCCTGGGCGCCGGCGCGGGTCCTGGAGCCGGGTGGGGAAGTCCTGCGCCCTCCCCCTCCGTCCGCAGCCCAGCCTCGGGGGCCAGCCCCCTCCGCCCACCGCACACGGGCTGGCCATGCGGCGGCTCTGAACGATGTCCTCCTCCTCCTACGCCAAGAACGGGACCGCGGACGGGCCGCACTCCCCCACCTCGCAG
Seq A exon
GTACCGCCCCCTCCTCCCCCTTCTCCTCTTCCTCCTCTTCCTTCCTCACACCTCCTCCGCCGCCCTAGCGCGCCCCGCCTTCGTGCCGGGCGTGCGGGGCCCCAGTCCCGGGAGTCGGCGGCCCCGCTCCCCCCACCCCTCCTCCACGTCCCTTTCTCCTCCCGCTCCTCCTCTTTCTCCTCCTTCTCTTCCTCCTCCTCCTCACCCTCCTTCGGGTCTCTGCGCTCCCGCTCCGGAGCCCGCAGCCTCCCCCAGCGGATGCCGGGGACTCGGACCCCGCACCCTGAGAGTCTTTGTTAATGGATGTGGTGGGTGCTTGCGGGCTGCTCTTCTCGAGCATCTTTTCAGCAGTCGAGGCTTGCAGTGGGTGGGTGGGGGTGGGGGCTGTATTTGGGAGTCGCGGAGGAGACTTGGGTGCGGGCTCTAGGGGACCCCAGGGAGCGGGTCCGGAGGCGGACTCCAGCCGGGGGTGGTCGCCCCGCTCTGCGCTGCGGTCCTCACCGGCTTCTCTCTGGCCCCCGTGTGTCGAGTCCAG
Seq C2 exon
GTGGCCCGAGGCACCACAACCCGGAGGAGCAGGTTGAAAAGATCCGATGGCAGCACCACTTCGACCAGCTTCATCCTCAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182389:ENST00000539935:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion (1st CDS intron)

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=NA C2=0.837
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTAGGCGAGTTTCCGAGAAGC
R:
CTTTTCAACCTGCTCCTCCGG
Band lengths:
342-877
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains