HsaINT0026556 @ hg38
Intron Retention
Gene
ENSG00000165995 | CACNB2
Description
calcium voltage-gated channel auxiliary subunit beta 2 [Source:HGNC Symbol;Acc:HGNC:1402]
Coordinates
chr10:18534076-18536196:+
Coord C1 exon
chr10:18534076-18534227
Coord A exon
chr10:18534228-18536100
Coord C2 exon
chr10:18536101-18536196
Length
1873 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGT
5' ss Score
11
3' ss Seq
AAACTCATTATCTTTTACAGGTT
3' ss Score
8.08
Exon sequences
Seq C1 exon
CGGAAGTTCAGAGTGAAATCGAAAGGATTTTTGAACTTGCAAGAACATTGCAGTTGGTGGTCCTTGACGCGGATACAATTAATCATCCAGCTCAACTCAGTAAAACCTCCTTGGCCCCTATTATAGTATATGTAAAGATTTCTTCTCCTAAG
Seq A exon
GTAAGTAGGACTGCTACTGTTTGCTCTATAATCAAACTTTCCTAAAATGTATTTTATGTTCTGCTTTCTATAATTAGGCTATTGTAATAGCCTTTATGATGTATAGAGAATTTGAGGAGACATGATAGTCAAGAATTTTTAAATTGATATAGTTTCATGGCTTAGAACAGCTGTTCTCAAAGTGTGGTCCATGGATCCCTGGAGAGTGTTGAGACACTTTTAGAGGGTCCATTTAGTCAAAACTACTTCCATGATAATACTAAGACATTATTTGCCATTTTCACTGTTTTGATATTTGCATGGCTGATGCAAAAGCAATGGTGGGTAAAACTGCTGGCGTCTAAACATAAATCAAGACTGTGGTATCAAAGTACCAGCAGTTACTGTATTCACCGCCACCATGCTTTCGCAGTTTGAGGGGAAAAAAAGCCAATTTCACTTAATGTCCTTATAAAGTAGTAAAGTTTATTACTTTTATTAAATCTTGACTTTTAATATTCAGTGTACTAAAACAAAGTACACACAAAGCTCCTGCTGTATACCAAAAAGTAAGGACAAGCACTGGTTTGATTGAGTTGTGAACTAAACTAGCCATGTTTTTCATAGAATACCATTTTTATCTCAAACAACAACTGACAGGCTATGCTTATTCCGACTTGGTGTAGCAGATATTTTCTTGGACAAAATAAGCCTGTCACTTAAAGGAGAACAGCATGTGTTGCCAATGATAAAACTCAAGCTTTCAGACAACAATCAGAATTTTAGAAAACTTGTATGCATCTCTGAGAACTTGCAAGCTTCCCAATAAAGTTTTCTCTGAGATCAATGGTAATATTAATGAATATGATGTTTTAATAATGTATAATGAAATATGTCAACATTTGGAAGATCTGAAGTCAGTGAACCATTATTGTTTGTATGATCAATGAATAACATTAATTTTCAAGACAGACCAATGGAATGTCATGGAGTAAGAAAATTGCACTGCAGGTTCAGATTCCACATAACAAATAGTCTTTAAGGAACCACCATTTGTTGAGTTTTAGTGTAGTATCAAAGAAGACTATACTAAATTGTTTCTCCTTTTCTCAATTACAAATCTGTAGGAGGTTGGATTTTCTTCACGTATTTCAACCAAAACATGACATTGCAGCAGGTTGACTGTAGAAGCAAACAGGAGACTGCAATTGTCTTCTATGAAGCCAGCCAGCCAGCCATTAGAGAGATGTGTAAAAATGTAGCTATTTTTATTAAAAAAAATTCGGCCGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTCTACTAGGCTGAGGTGGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTACATCTCAAAAATATATATATATATATTTTAACATGTATCAGATTTATTGTGAATTTTTAAATAAATGTTTTAATAGTTTTCCATTTTAGCTTCTTTAAAGAGGTTGTGAGATAAAATGTTTGAGAGCTGCTAGCATAGAAAAAATGTGAGTGCTTAAAGCTTGCAACTGTGATTTATGTTAACATGTTAATTTTGCAGATAATCTTATAGCTCCATCTATTATAAGCCCCTTGTGCTGTATATAAAAAGGCCCCAGAGAAAGGAGTCAATAATGTACCTTGTACTTTACCTGGATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAG
Seq C2 exon
GTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165995:ENST00000324631:11
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=0.034
Domain overlap (PFAM):
C1:
PF0062516=Guanylate_kin=FE(27.6=100)
A:
NA
C2:
PF0062516=Guanylate_kin=FE(17.1=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGAAGTTCAGAGTGAAATCGA
R:
TGGAGGACACTGAGCCAGTTT
Band lengths:
248-2121
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