Special

HsaINT0026563 @ hg19

Intron Retention

Gene
ENSG00000165995 | CACNB2
Description
calcium channel, voltage-dependent, beta 2 subunit [Source:HGNC Symbol;Acc:1402]
Coordinates
chr10:18803165-18807345:+
Coord C1 exon
chr10:18803165-18803298
Coord A exon
chr10:18803299-18807264
Coord C2 exon
chr10:18807265-18807345
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-CACNB2:NM_000724:6
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=NA C2=0.269
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF0062516=Guanylate_kin=PU(8.3=55.6)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
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