HsaINT0026542 @ hg38
Intron Retention
Gene
ENSG00000067191 | CACNB1
Description
calcium voltage-gated channel auxiliary subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:1401]
Coordinates
chr17:39183713-39184140:-
Coord C1 exon
chr17:39184031-39184140
Coord A exon
chr17:39183865-39184030
Coord C2 exon
chr17:39183713-39183864
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:ENST00000394303:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.042 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