HsaINT0026557 @ hg38
Intron Retention
Gene
ENSG00000165995 | CACNB2
Description
calcium voltage-gated channel auxiliary subunit beta 2 [Source:HGNC Symbol;Acc:HGNC:1402]
Coordinates
chr10:18536101-18538365:+
Coord C1 exon
chr10:18536101-18536196
Coord A exon
chr10:18536197-18538179
Coord C2 exon
chr10:18538180-18538365
Length
1983 bp
Sequences
Splice sites
5' ss Seq
CCAGTAAGT
5' ss Score
9.09
3' ss Seq
TGGAATGTCTGCCTCTGCAGGAG
3' ss Score
7.95
Exon sequences
Seq C1 exon
GTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCA
Seq A exon
GTAAGTTATCTCTATATACAGCATAATCCAGTTACAGAGATCAGACCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGGGACAAGGTCTTGCTCTGTTGCCCATGTTGGGAGTGCAGTGGTATGGTCTTAGCTCACTGCAGCCCTGAACTCCCGGGCTCAAGTGATCCTATTGCTTCAGCCTTCCAAGCAGCTGAGACTATAGGTGCATGCCACCATGATCGGCTAACTTTTTTTTTTCCCCCTGTAGAGACGGGGTCTTGCTATGTTGCCCAGGCTGGTCTAGAACTCCTGGCCTGAAGTGATCCTCCTGCCTTGGTCTTCCAAAGTGCTAGGATTACAAGCATGAGCTGCCATGCCTGGCCAGAACTGGCATTATATTTTGAAAAAAACAGTCAAACACCTGTCAGGGAAGAGAATCCTCATCACTTACAGTGGTATTCATTCCAAAGTAAACTGTCCTCCCTCCTTCCATGATCATGTGTTTTGAGCACAAGTAATCCAAACGATGATCATAGCTTACCAAAAGCTTCCGTACATCCTGCAGTAACTTCACTTTGTTAATATCCAACACAAGATCCTGGTTCCGAAAATTTGGCTTGTATGATGAGTCTATTTGGAGTTGGTATATTATTCATTTCTGATCATAGGGATCAAGTTGTCTGCTCTTAATAACTGTCTGAGACATTTATTTTCACATGGTCTCAAATCAATTTCTAAGTAATAAGTTACCTAGATTCTCACTTGTCGTCTATGCTTTACATGCAATGCCTTGAGGTATTAGAGCTTTCCTAGGTTTAGTTTTGGAGGCAGGGTCTTGCTTTGTTGCCCAGGCAGGAGTGCAGTGGTGGTGTCTCAGCTCACTATTGCAACCTCTGCCTCCCGGGCTCAAGTAATCCTCCCACCTCGGCCCTCCAAGTAGCTAGGACTACAGGCAAACGCCACCATGCCCTGCTAATTTTTGTATTCTTAGTAGAGACGGGGCTTTGCCATGTTGCCCAGGCTGGTCTCAAACTCCCGACCTCAAGTGATCCATCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCAGGCTTTTTTTTCTTTTTAAGCATAGCCATTTCAGGGTCTATAAATATTTGATTGCTTAATATATGTTAAAATTTATAATAAACACTAAAAAATCTTTTGAAAAGTGGCATTATTTTCTTCTCTACTGAACTACTGTGAAGTTTGGACAATGTCAAAATTTCACATCCTAATCTTACCTTATTAATTTCTAAATTCAGATTTCATAATCTTGGGCCGGGCATGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGAATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCAGGGCTTGGTGGTAGGCACCTGTAACCCCAGCTACTTGAGAAGCTGAGGCAGGAAAATCACTTGAACCTGGGAGGCCAAGGTTGCACTGAACCAAGATCAGGCCACTGCACTCCAGCCTGGGTAACAGAGTAAGACTCTGTCTCAAAAAAAGAAAAAGAAAAAAGATATCACAATCTTTATGTCAAGAACAGGCTTCTTCCTATTCTATTCTATTCTGTTCAAATATATATACATCTCTTTTCTACCATAGTATCTATGCCTTTTTCATTGCTGATTGATAGACAACTTTTCTGGGTTGCCATGTCCTTAACAACTGTTACCTTTCTGGCCATTATTTATTAGTTAAGCATTCAGTGCCCTCAACAATGATTTGAGGTAGTCAGACACTTCCTAACTAAATAAAAAGGGAGATAGTAGCAGCACTTATAGAAGCAGGAGCAAGTACAAAGGGGTGCAGCTCATGAGCCCCTTCCTCCTCTTATGGAGGTGGGAAGGGGGTGAAAACTGGGCTGGCATCAATGTGGTCTGGAATGTCTGCCTCTGCAG
Seq C2 exon
GAGCTGTTCGATGTGATCTTGGATGAGAACCAGCTTGAGGATGCCTGTGAGCACCTTGCCGACTATCTGGAGGCCTACTGGAAGGCCACCCATCCTCCCAGCAGTAGCCTCCCCAACCCTCTCCTTAGCCGTACATTAGCCACTTCAAGTCTGCCTCTTAGCCCCACCCTAGCCTCTAATTCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165995:ENST00000324631:12
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.034 A=NA C2=0.477
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
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TACAAAGGTTAATAAAATCTCGAGGG
R:
CTGTGAATTAGAGGCTAGGGTGG
Band lengths:
278-2261
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