HsaINT0026544 @ hg38
Intron Retention
Gene
ENSG00000067191 | CACNB1
Description
calcium voltage-gated channel auxiliary subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:1401]
Coordinates
chr17:39177350-39178079:-
Coord C1 exon
chr17:39177984-39178079
Coord A exon
chr17:39177536-39177983
Coord C2 exon
chr17:39177350-39177535
Length
448 bp
Sequences
Splice sites
5' ss Seq
CCTGTGAGT
5' ss Score
7.21
3' ss Seq
CCCTAACCCCGCCTTCACAGGAA
3' ss Score
6.98
Exon sequences
Seq C1 exon
GTACTTCAAAGGCTCATCAAGTCCCGAGGAAAGTCTCAGTCCAAACACCTCAATGTCCAAATAGCGGCCTCGGAAAAGCTGGCACAGTGCCCCCCT
Seq A exon
GTGAGTGCCTAGATCCCAGGGAAGGGAATGGAGGGAGAACATTTGGGTTGTCCTGGTTTCCTCTGGCCTACATGAGAGACAGGGTGACCAGGAACACCTGGGTCAGGCCTGTGGGTGCAGACTGGTCTTCTGGGAAGAGCGCAGGTCCCGTCAGTCAAAGACTGGGTTCAAGCCCCAGAAGCACCCTTCTGCGTGGAGAGTCAAGCCCTGTCTCCCAGCCTTGGTTGCCTTATCTCTAGAATGAGGGAGTTGGACTGAGTGCCAAAACTTCTTGCAGTTCTGCCAATCTGTAGATCTGAGAGCTCTCCTTCCCTTCTACATCCAGAGGCCTCTTTTTAACCTTGTCCTTCAATCCCTTGACTCTACCCACTGCACCCAGGCCACACCCTCAACCCCCTTGGCCATGCCCCACTCATCCCAGCCCTGCCCCCTAACCCCGCCTTCACAG
Seq C2 exon
GAAATGTTTGACATCATCCTGGATGAGAACCAATTGGAGGATGCCTGCGAGCATCTGGCGGAGTACTTGGAAGCCTATTGGAAGGCCACACACCCGCCCAGCAGCACGCCACCCAATCCGCTGCTGAACCGCACCATGGCTACCGCAGCCCTGGCTGCCAGCCCTGCCCCTGTCTCCAACCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191:ENST00000394303:12
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.415
Domain overlap (PFAM):
C1:
PF0062516=Guanylate_kin=FE(17.1=100)
A:
NA
C2:
PF0062516=Guanylate_kin=PD(13.8=40.3)
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:
TTCAAAGGCTCATCAAGTCCCG
R:
CTGGAGGTTGGAGACAGGGG
Band lengths:
278-726
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