HsaINT0026541 @ hg19
Intron Retention
Gene
ENSG00000067191 | CACNB1
Description
calcium channel, voltage-dependent, beta 1 subunit [Source:HGNC Symbol;Acc:1401]
Coordinates
chr17:37351137-37353901:-
Coord C1 exon
chr17:37353665-37353901
Coord A exon
chr17:37351224-37353664
Coord C2 exon
chr17:37351137-37351223
Length
2441 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
3' ss Seq
TCCTTTCCTGGCCTCTTCAGGGC
3' ss Score
10.32
Exon sequences
Seq C1 exon
GAGGGAAGGCAGGAAGGAGGCAGCCGAAGGCCGAGCTGGGTGGCTGGACCGGGTGCTGGCTGCGCCGCGCTGCTTTCGGCTCCCACGGCCTCTCCCATGCGCTGAGGGAGCCCGGCTGGGCCGGGCCGGCGGCGGGAGGGGAGGCTCCTCTCCATGGTCCAGAAGACCAGCATGTCCCGGGGCCCTTACCCACCCTCCCAGGAGATCCCCATGGAGGTCTTCGACCCCAGCCCGCAG
Seq A exon
GTGAGGCGTGGTGGCCCGGCCCAACGGGAGGGGGTCGCTCCCGCGGACCGTGTTAAGGTCGGCTCGAGAGGCGCGGGAGAGGAAGGGGTTATATGCCGGGCGCGGAGGAGAGAGGGATGCCTGCGCGCCCCCCATCCTTGCAGGTTGTGATTGATGGGCGCTGGGCCTGGGGCTGGGTGGCGATGCTGCGGAGCGGGGAGGGGGCGGGTGGGCTGCCTGTCACCCTCGCCTCCTTATCTCCCCCGCGTCAAGGTTCCTGCCGCTTGGGCACCAGCTTCAGTGGGCTGAGCGTGGGGGTGCTGGTGGAGGGGGATCTGGGCCTTGAGAAGGGGAGGTTGAAAGAGGCTAGAAAGCGAGCCAGGCAAGGGGGGCGACGCAGAGCACGCTCGGGGGCGCCAGGCGGGTGTGGGTGGGGCGGGGGTGGCACGAGGAGGTGGCCGAGGCGATGGTCAGAGGGCGGTGCCAAATGCCAACAGGCCTTCAAAGCCGCAGACACTGGTTCTCGAGGGTGGGGAAAGAGCCAACCCCGGTCGAGGTCCCCTCCCAGCCACCTGGGCTCCATCTCTATGTCGGACCTGCTCCCCTCCCCCCACACCCACGTTGACTTACCCCACCCCCACCCCCGCCCCAAAAACGCCTCCAAAGTTTGGAAAGTTGGATGGATGCCAACTCATAGGAGGGGGGGAAGCTGTTTTACCTGGGGGAGGGGTCTACTTCTCCATCCCCACCCGCACACTTTTCCTACACCCCTGGTTACTCCCAGGAAGTGGCATTCTTGGGCGCGGTGGGTTCTCATGGGGTGACCAGCAGGCTCTGGGATGGTCGCGCCAGGGGATTTCTTTGGGAGTGTCCTTCTCCAAGGATAGCATTAACTCTTCTGTTACTGTGGCCACCAGCTGTAACCACCATGATAATGTGACTGATGGGTATGTAGAGGGGTCAAGTCAGACCTAAAAATACCTTCCTCCACCCCAGGCCCCTTTGAGCCTGGGAGGCAGCTGACTGGGGCCTTCCTTTCAGCTGTCCCCTGTCCCTCTGAGTGCCACTCCCTTTGCCCAGCCTGGCAGTGGTGGGGGAGGGTGGTGTCTGGGATTCACTGGGTGATCCTCCTAGGTTTGTAGGGAGCATCACAACTTGAGTTGGGGTATATGTCTGGTTTGAGAGAAGGGCGGGGAGGGGAGGATCTTGGAAAGGTCCCCAGGGGCCCTCCTCTCCCATTTTCCATCCTCTTTCTTGTACCCTGATCCCAGCAGCCAAAGCCCCCAGTCTGGTCATGGCCCCTCCAGGTTCTTTGGCCAAAGAAAGTCTAGGATGGAGACCAAGGGCGGGGACTTGGAAGTCTGAGCCCTCACTCACTCTCCCCATTCTGAACTGGGCTGAGGCCAAGTGTGTGTGGGTACAAGCTGGGGAGGGCCAGAAGCAGCTCTTCTTACAAGAGGACTGGAAATACCTGACGCCCTTAACCTGAACGTGTGGCTTCCTGAATGGTCAGGCGGTATTTCCTCCACCCGGTCTCTGAGACTGAGCCAGCTTACCCCCTAGAGATCTGTGGGGCTGTGTCCTAGGCTCATGTGGTGCGGGGCCGAGGGACATTTAGATTGACGTAGCCTGATGGGTACCATGGGCATGGGGCATGGGCAGTGGCAGCTGGGGGCCACAGGGTAGAAGCTTGATCCCTCTTGCCCCCTTGGGGAGGATTGTAGCTACTGTGATTGTGAGAGAGGGAGCTGAGAAAAAGTCCTGTCTGGGCAAGGGATGAGAGTGGGGAGCAAAATTTGCCCCCATGGTGCCAGGGATCAGGCTGGATGTTTACTCTCCAAATACAGTTCCATGCCCCTACTCCCTCCCCAGAAATCTGGCTCTGAGTCTCCAAGAGAGCTGTCATCCCCTCCCTACTCTGTGAATAGCGAAGGGAAGAGTTGGGCACAGGGGAGAAGCCAGGCTGGGCCCTGGGTTGGCAGTTCCTCCTCTCTGGGGGCCACCAACACAAACAGCCCTGCTCTGCTCCTGCGGAGGGGGAGTGGGGGTGACTTTCCCGCTCTCCCCACCCAACACCCAGCACTGCCGGCTGCCTCTCCCTTCCTCGGAGGCCTCTGCAGCCTGCCCAGCATCTTAATTAGCTCTGCTGCCTAATGAGCCTCCAGCTTCTCCGCGCCTCCCCCCTTCCCAGCCTCTCTGGCTTGGTTTGGTGGTTTCCGTGTGGGTCTTCTGGGGCTCTCTTGCACTGGTCCCCACTCCTGGCTGTGCTCTGGGCCCTCTCCGTGAGGATGGGAGACCCTCCCTCCCCTTGGGTCGTACCACCTCAGGAGGAATGTGCAGGGGGGTGGAGGTGGGGCTGGGAGTGCTGTTCCCAAGCTTGGCTGTAGCTCTGGGGCTGGCAAGATGAGGGTTGGGAAAGGGCCCTTCTGATTCTACTCTTGTTCCTTTCCTGGCCTCTTCAG
Seq C2 exon
GGCAAATACAGCAAGAGGAAAGGGCGATTCAAACGGTCAGATGGGAGCACGTCCTCGGATACCACATCCAACAGCTTTGTCCGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191-CACNB1:NM_000723:1
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.996 A=NA C2=1.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)