HsaINT0026563 @ hg38
Intron Retention
Gene
ENSG00000165995 | CACNB2
Description
calcium voltage-gated channel auxiliary subunit beta 2 [Source:HGNC Symbol;Acc:HGNC:1402]
Coordinates
chr10:18514236-18518416:+
Coord C1 exon
chr10:18514236-18514369
Coord A exon
chr10:18514370-18518335
Coord C2 exon
chr10:18518336-18518416
Length
3966 bp
Sequences
Splice sites
5' ss Seq
AAGGTAACA
5' ss Score
8.92
3' ss Seq
AGCCTCTCCTCTCTCTGCAGACA
3' ss Score
10.57
Exon sequences
Seq C1 exon
CTATAGACATAGATGCTACTGGCTTAGATGCAGAAGAAAATGATATTCCAGCAAACCACCGCTCCCCTAAACCCAGTGCAAACAGTGTAACGTCACCCCACTCCAAAGAGAAAAGAATGCCCTTCTTTAAGAAG
Seq A exon
GTAACATTAACTTCCAAGCTCCCATTGTCCACCTGCTCAACTGCACTGCGTCACATTTCTAGTCCTGTTGACTGTCTGCGTCCTTTGATAAGCCAATAACGTGCATGCTCTGTTATTTGTTTCTTTTCCATGCTGCTGTAGCTAAGCAGAAGCAGAAATCGGTAAGTTTACATTGACATAAGCTGTGTTTATCCTGCCACTGGCATCATTAGCATTAATTCCCACAGTTGTATTAAATACAATCATTTCTGTCCCAAGCAAAGAACCTATCAACAGCTAATTGAGTTCATGCATTTCAAACCAACTAAATTCAGGGAGTGACCTGTTAAAACACCATTACAGTACTTATCCTTTTTGATGGAATAATATCTACCACCAAGGGAATTTGTTTCAACATTCAGGGATGTCAAACACTGACAGCTCCACATAATGCACCTAAATTGTGCATGCTTATTCTATCTCTTTCTTTTATCCAGAAATTTAACTTATGATCAAACATATTAAAGCAGTTATTAAATTCTGACTTATGATATCCAGATACATAGCTTGTACTAAAAAAAAAAGTATTCAAGTTTTAATTTAGTCAGTATTTAAACTTCTAATCCACTAGGTGCAAAATCTGCAGATGAACAAGACCAGTGGAAAACTGCAGGCTTGTTTTGGCGGTTTACTGTGAGTTTTTCCTATTGTCATATATAAATATTCTCCCGATGTTCTTGCCTTCTCCATCAGTCAGATTTTACCATCTCACCCTTTGGACAGTGCAGCCAGTGGTCATGCGTAGAGCCTTTGCCATTGGCCATCCAAGATGCTACACAGCGAGGCTCCTTGTCCCCTAAATGGAAACTATAGGGTATTCCTGAGCTCTCCTTACTTCAGACAAAGCCTTTTCCTCACCCATTTTGTAGCTTTAAAGCATTATTTTTTAAGGACCACTAACCTCCCCCCAAATTTCCCTTTTTTTCCCCTCTTTTACCCATCAGTTTCCACAGCTACCATGCTGTCTTTTAGAATCATACTAATGTCGCCAAGTCTGGCAAAACCATGGATATATTCTCACACGCAGATGTGATGTCAAATCTGTCTATCCTCTGCCCCCAAACTCTCCACATAATGAACACTTTTCCTCTGCAAACATGTATTTTGGTTTGTGGAGGAACTCAAGTCATTAATGAGGTGTCAGATACAGAACTGTAAAGTTGGCTTTTTTTGAATCAATTATGATTATTTTAATAAGGGAAAACTTCAGCACTCTGGGCAAAAATTGCAACACTTGGATTTTTGTGTTAACATAGCCTCAGCTTGATGTTCACCCACAACAGTGGGCCCATTTCTGGGGTCCGATCTTCTTGTTACAGCTAAAGCTTGCAGCCAAGTGACTAACAGTGTCTATCATTCAGAAGCTTAGAAAATCGGCATCGCTAAGACATTTGGGCCTTGACGGAGCAGGAATGTGAGCTAAAACCCTGTTTGTCAAGATAGGTTTGTGAAGTTTGCTTACCTTTAAATTCTAAAACTTTAAAAACTTTTATCACAATTTTTTCACTAAATAATTTGAGCAGGCAGGGCGCAATGGCTCACACCTGTAATCCCAGCCCTTTAGGAGGCTGAGGCAGGTGCATCACCTGTGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCATCTCTGCTAAAAATACAAAAAATTAGCCTGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGTGGCAGAAGAATTGCTTAAACCCGGAAGGCGGAGATTGCAGTGAGCCGAGACCATGCCACTGCACTCCGGCCTGGGCAACAGAGCTAGATAACTCTGTCTCAAAAAAAAGAAAAAAAAAATCAAGCTAAATGGGGTTAACAGGGAAGAGTAGATAAAAATGATGGCGTCATTCTTCATAGGGCACAAAGCACCAATATTCCATCAAATAAGGTAATTTCTGTAGCTACCCTATTGATTAAGAAGCTGATTGATTACCAGCAACGGGTGACCCTTTGCTAGTTGGCAGTTACAGATCGAAGGAACCAAAGACCTATCAAACACTGGGCCACTTCAGAATTAAAGTCTTGAGATAAAATTTCTTGGTAGCTGTTACTAAAATGCAGGAAATTTACATTCATAATTTCAACGGTGGAAAAGGTGTTCTTACACCGCATAGTTATCAGGACTTGGCTTCTAAACGTTTTCAGTATGATCCCAGGTGGTATAAATGAAATAGTTTAAGAAATATGCTTATGATGCCTTCGGCACTGGTATTCATTCTTCTTATGTTATTGATAATGTGGTTAACATCAATGTAGAATTCAAAAACAAAACAACAGCCTGAGATTCAATGAGAAGATCGTTTTCTATGTTTTAGGTTGCTTTTAGAGTGGTGCTTGTGTGGTACGTGTGCTGTCACTGTATTATGTTTGTCTTGTTTTTTTTTTTTCTGTTCAAAACTGTATTCTACCTTGATTGTGTCAATTAAAATTAATTCTGAATGCTAGGTGAAATTTTAGGCAGTGAAATTTGACAGCACAGTCATGGTAATATTTTTCTTCCCTCTGATTATATCGTCTGTGACTACGGGTAAAATCTCAGATGGAAGCTTTTGAATTTGAAATGCTTTTTAATTCTCCCCTGAGGCAATGTGAATTCAAATGAAGCCAGAAAAGTTTGTAATGGGCAATTTTAAGCAACAATAAAATGTTCTTGAGTGACGGGCAGATGCAAAAATGACATTCATATCTGCACATCAGTGTACTGAATTCTTAAAATCATTTACAGAACATTTTTCTGTTGGTGTGTGTGATTCTCAAGTTATATTTTTTGACACTCCTTAGCCAGAAAGATTCATATAGCAATGATTTGCTTATCGCAGTGTCTAAGGCCATATCACTCTTATGCATTTTTTTAAAAAGTCATTTTTGGGTCAATTTAGCATTTTATGCTATCAAAAGAGCCAATTTTAATATAAACCAATTTGCTGTTACCTAATTTTTGGAAAGATGTTATTTTACCATTTTATTTGAAGCAATTAACCTGAAAAGTGTTGACAGTTTTAGAAATTGCTACAAAATTTAGCTCCTCCCCTCTTATTAAAAAGAAATAATTTACTGCAGAAAGATGTCATTAGTTATCTGACAGAAAACTACTTTTGAGAATCATATTAGATATGCACATTGATAATGAACCTTTTGAGACCACAATAGCATGGTTGAATATATTATTATACATTAATCACCTTCCCTCGAAGACACATAAACCTTACCTTTGAAGTACCAAGGTATAGAAACCAAAAAATTCAATAGCATTAATCACTAAGCTGTGAGCAGGGATCATGATTACTGTTTACTAAAATAAGCATGCATGTTCATTTAAACTCTCACAATAATATAGAATTTTGACAGTAGTGAGAGTTACAATATTTTGAGATTAGGTAAAAAGTATTGGTAGTGAGAGTTATAATATTTTGAAATGAGGTTTTACACAGGTAAGACAAAAACCTAAGATGCAAAGGTAATGCAATCTTTCTTTCCTCTGTAATTAACCATGTTAGGTCTAATCACTACAACTCTTTAGAAAATTCAAATGCAGCCGAAAAGCAATATTAACTTCTAGTCAAGCCTAAAGCACCTATCTTGCATGAGGCATGTTTCTCTTTGTTCTGTCAACTAGTTTTTGTTCAAAAGCAGCATCTCTTGCTTTAGGAACGAATAGGTCTGTAGCATTTCTTGAGATGAGCAAGAAGACTGTAGACAACAGTAACTTGAAACTTCAGGAAAATGAACCCACCAATCTTTGACTGGGTTTATGTAGAAAAGAGGCAAGTGGGGAAAATAAAATGTCTGGAAAGCCAGTGCCTCATATTATGGAGTTCAGAAAGAGTACCTTATACACAAAATATTTATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAG
Seq C2 exon
ACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165995:ENST00000324631:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=NA C2=0.271
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0062516=Guanylate_kin=PU(38.5=55.6)
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:
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