HsaINT0026541 @ hg38
Intron Retention
Gene
ENSG00000067191 | CACNB1
Description
calcium voltage-gated channel auxiliary subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:1401]
Coordinates
chr17:39194884-39197703:-
Coord C1 exon
chr17:39197412-39197703
Coord A exon
chr17:39194971-39197411
Coord C2 exon
chr17:39194884-39194970
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
GAGATGCTGAGCCTACGGGGGAGGCGGCGGCGGCAGTGGAGAGAGCGGGAGGAGCGAGGGAAGGCAGGAAGGAGGCAGCCGAAGGCCGAGCTGGGTGGCTGGACCGGGTGCTGGCTGCGCCGCGCTGCTTTCGGCTCCCACGGCCTCTCCCATGCGCTGAGGGAGCCCGGCTGGGCCGGGCCGGCGGCGGGAGGGGAGGCTCCTCTCCATGGTCCAGAAGACCAGCATGTCCCGGGGCCCTTACCCACCCTCCCAGGAGATCCCCATGGAGGTCTTCGACCCCAGCCCGCAG
Seq A exon
GTGAGGCGTGGTGGCCCGGCCCAACGGGAGGGGGTCGCTCCCGCGGACCGTGTTAAGGTCGGCTCGAGAGGCGCGGGAGAGGAAGGGGTTATATGCCGGGCGCGGAGGAGAGAGGGATGCCTGCGCGCCCCCCATCCTTGCAGGTTGTGATTGATGGGCGCTGGGCCTGGGGCTGGGTGGCGATGCTGCGGAGCGGGGAGGGGGCGGGTGGGCTGCCTGTCACCCTCGCCTCCTTATCTCCCCCGCGTCAAGGTTCCTGCCGCTTGGGCACCAGCTTCAGTGGGCTGAGCGTGGGGGTGCTGGTGGAGGGGGATCTGGGCCTTGAGAAGGGGAGGTTGAAAGAGGCTAGAAAGCGAGCCAGGCAAGGGGGGCGACGCAGAGCACGCTCGGGGGCGCCAGGCGGGTGTGGGTGGGGCGGGGGTGGCACGAGGAGGTGGCCGAGGCGATGGTCAGAGGGCGGTGCCAAATGCCAACAGGCCTTCAAAGCCGCAGACACTGGTTCTCGAGGGTGGGGAAAGAGCCAACCCCGGTCGAGGTCCCCTCCCAGCCACCTGGGCTCCATCTCTATGTCGGACCTGCTCCCCTCCCCCCACACCCACGTTGACTTACCCCACCCCCACCCCCGCCCCAAAAACGCCTCCAAAGTTTGGAAAGTTGGATGGATGCCAACTCATAGGAGGGGGGGAAGCTGTTTTACCTGGGGGAGGGGTCTACTTCTCCATCCCCACCCGCACACTTTTCCTACACCCCTGGTTACTCCCAGGAAGTGGCATTCTTGGGCGCGGTGGGTTCTCATGGGGTGACCAGCAGGCTCTGGGATGGTCGCGCCAGGGGATTTCTTTGGGAGTGTCCTTCTCCAAGGATAGCATTAACTCTTCTGTTACTGTGGCCACCAGCTGTAACCACCATGATAATGTGACTGATGGGTATGTAGAGGGGTCAAGTCAGACCTAAAAATACCTTCCTCCACCCCAGGCCCCTTTGAGCCTGGGAGGCAGCTGACTGGGGCCTTCCTTTCAGCTGTCCCCTGTCCCTCTGAGTGCCACTCCCTTTGCCCAGCCTGGCAGTGGTGGGGGAGGGTGGTGTCTGGGATTCACTGGGTGATCCTCCTAGGTTTGTAGGGAGCATCACAACTTGAGTTGGGGTATATGTCTGGTTTGAGAGAAGGGCGGGGAGGGGAGGATCTTGGAAAGGTCCCCAGGGGCCCTCCTCTCCCATTTTCCATCCTCTTTCTTGTACCCTGATCCCAGCAGCCAAAGCCCCCAGTCTGGTCATGGCCCCTCCAGGTTCTTTGGCCAAAGAAAGTCTAGGATGGAGACCAAGGGCGGGGACTTGGAAGTCTGAGCCCTCACTCACTCTCCCCATTCTGAACTGGGCTGAGGCCAAGTGTGTGTGGGTACAAGCTGGGGAGGGCCAGAAGCAGCTCTTCTTACAAGAGGACTGGAAATACCTGACGCCCTTAACCTGAACGTGTGGCTTCCTGAATGGTCAGGCGGTATTTCCTCCACCCGGTCTCTGAGACTGAGCCAGCTTACCCCCTAGAGATCTGTGGGGCTGTGTCCTAGGCTCATGTGGTGCGGGGCCGAGGGACATTTAGATTGACGTAGCCTGATGGGTACCATGGGCATGGGGCATGGGCAGTGGCAGCTGGGGGCCACAGGGTAGAAGCTTGATCCCTCTTGCCCCCTTGGGGAGGATTGTAGCTACTGTGATTGTGAGAGAGGGAGCTGAGAAAAAGTCCTGTCTGGGCAAGGGATGAGAGTGGGGAGCAAAATTTGCCCCCATGGTGCCAGGGATCAGGCTGGATGTTTACTCTCCAAATACAGTTCCATGCCCCTACTCCCTCCCCAGAAATCTGGCTCTGAGTCTCCAAGAGAGCTGTCATCCCCTCCCTACTCTGTGAATAGCGAAGGGAAGAGTTGGGCACAGGGGAGAAGCCAGGCTGGGCCCTGGGTTGGCAGTTCCTCCTCTCTGGGGGCCACCAACACAAACAGCCCTGCTCTGCTCCTGCGGAGGGGGAGTGGGGGTGACTTTCCCGCTCTCCCCACCCAACACCCAGCACTGCCGGCTGCCTCTCCCTTCCTCGGAGGCCTCTGCAGCCTGCCCAGCATCTTAATTAGCTCTGCTGCCTAATGAGCCTCCAGCTTCTCCGCGCCTCCCCCCTTCCCAGCCTCTCTGGCTTGGTTTGGTGGTTTCCGTGTGGGTCTTCTGGGGCTCTCTTGCACTGGTCCCCACTCCTGGCTGTGCTCTGGGCCCTCTCCGTGAGGATGGGAGACCCTCCCTCCCCTTGGGTCGTACCACCTCAGGAGGAATGTGCAGGGGGGTGGAGGTGGGGCTGGGAGTGCTGTTCCCAAGCTTGGCTGTAGCTCTGGGGCTGGCAAGATGAGGGTTGGGAAAGGGCCCTTCTGATTCTACTCTTGTTCCTTTCCTGGCCTCTTCAG
Seq C2 exon
GGCAAATACAGCAAGAGGAAAGGGCGATTCAAACGGTCAGATGGGAGCACGTCCTCGGATACCACATCCAACAGCTTTGTCCGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191:ENST00000394303:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.994 A=NA C2=1.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
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