Special

HsaINT0026561 @ hg19

Intron Retention

Gene
ENSG00000165995 | CACNB2
Description
calcium channel, voltage-dependent, beta 2 subunit [Source:HGNC Symbol;Acc:1402]
Coordinates
chr10:18789741-18795476:+
Coord C1 exon
chr10:18789741-18789877
Coord A exon
chr10:18789878-18795399
Coord C2 exon
chr10:18795400-18795476
Length
5522 bp
Sequences
Splice sites
5' ss Seq
CAGGTATGA
5' ss Score
9.46
3' ss Seq
AAATTTTTGCTTTACTCCAGTAA
3' ss Score
5.15
Exon sequences
Seq C1 exon
AAATTTAACAATGACTGGTGGATAGGGCGATTGGTAAAAGAAGGCTGTGAAATCGGATTCATTCCAAGCCCAGTCAAACTAGAAAACATGAGGCTGCAGCATGAACAGAGAGCCAAGCAAGGGAAATTCTACTCCAG
Seq A exon
GTATGAGACAGATGTCAAGTGTTTGCATAAAACTTAGATTATACCACTATCTGTGTACTGTTGTCTGCTGTATTCTGTATCCTTTATTATGTATTAACAAGGAGGCTGGTAATATGGTTTATTGATAGCATCACAAATCTTGCATTTTCCTGCATTTAAAAAACTTCAGTCCAGCACCTGATTTTCACCCTATTTGGGAAAGTGTCAAATTATTATCATTAATGAAAAGAGCTAAGGTCATAGAGTATTAAATTCAGGCTCCAGGGCAGAGGAAAATCTGAAACCTTAATCATTTACTGAAAAATAGTCTGGCACATCATAGCCCTGGTGACTAATCCCACTGTCTGTAGCTGCCTGGTATGGCTGGGAGATGTTTGAGAGATGACATTCTCAGACATCATCAGGCAGTGGCAGCTCTTGTCATCCGTTAGTTTCATTTTCACCTGAGAAACTCAATTTTCAGTTCTACCCACTGTTAAGCACTTAAAGAGAAGCGAAGTATGAAACAAGTTAAAACTGCCTGTGCAGATGGCAATTAGATGAGTTATGTAAGAAGCTGGGGCTGAATAATCCCTCCTAGGATTTGTGAGGTTGTCTGTCCCTCTCTGAAAGAATCACTAGAAAGGCTTCTCGTAGATGTACTGAATTTTCCATGGAATCGTATGCAGACGGGTCTAAGGACGCAGCATGCCTCTCCCAATGTGAAAGGATGGGACATGGGCAAGGCCTTTCTTAAATACGAATCGCTGGATTTCTCTTTTCTCCATCTTACATCTTATTTGTTTATCTAAGATGCAAATCCCTTTGTCAGTGATAATACTTTACTGTGAGCAAGTATTTTTTTCAAGCGTCAGCAGATGAGTGAAACAGAATATGCTTTGTGGTTTGGAACACCCATCCTCATTAACTGGCTTTTCATAATTGTCAAGTTCATTTAGTTCAGACGGATTCCTCTGTGTTTTGAGACCTCCACCCCAGAATTGACTTTCATTAATTCCTGGGTTATTGAGAGCACTCAGATGGTGAGATGCATTCAGTCATATAAAAGTAGAGGCATGCATAAAAAAGAACAAAGATTGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTGGGAGGCCGAGGCAGACAGATCACCTGAGGTCAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATCCAAAAATTAGCTGGGCATGGTGGCGGGAGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAATCTGGGAGGTGGAAGTTGCAGTGAGCCCAGATTCGTGCCACTGCATTCCAGCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAGAACAAGATCATGTCTTTTGCAGCAACATGGATGGAGCCGGAGGCCATTATCCCAAGCAAACTAACACAGGAATAGAAAACCAAATACGGGGGCCACGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCATATCACAAGGTTAAGAGATTGAGACCATCCTGGGCAACATTGTGAAACCCCGTCTCTACTAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGTGTGTGCCTATAGTCCCAGCTACTTGAGAAGCTGAGGCAGAGAATCACTTCGAACCCGGGAGGCAGAGGTTGAAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCATGTTTTTACTTATAAGTGAGAGCTAAACATTGAGAACATACACCAGGAAGGGAACATAAGACACTGGGGACTACTTGAGGGTGGAGGATGGGAGGAGGGTGAGGATCAGAAAAACCACCTCCTGGGGCATTATGTTCATTATCTGGGTGACAAAATAATCTGTACACCAAACCCCTGTGACATGCAGTTTACCTGTGTAACAAACCTGGACATGTACCCCGAAACTAAAAGTAAAAAAAGAAAAAAAAGTTGCCTGTAAAGATAACCCTCTTAGGATTAAAATACTTTACTCTGAATTAAGTTATCATTATCATTAGCAGCAGTAAATTATTCATTAGACCAACATACATATAATGCATATTTTGATATGCAATATTAAATATTAAACTTTTGTTGAAAATGCATTTCTTAATGAGAAAAAAAAGTAAAGACATGCAGATGAACAGCGCATGTGCATTCTGCCTGCAGGGTGTTTGAAGACCCGATAGGATTCTTTCAATCCTTAATGTTCCATTGGCCTTATTTTGTGTTTTCCTACCCTCTGTATTGAAAATGGTATCATAATACTAGCTAATGAAACCTTATGGCCAAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCAGGTGGATCGCTTGAGGCCAGGAGTTCGAGACCAGCCTGGTCAATATGGTGAAACCCTGTCTCTACCAAAAGTATGAAACTAGCTGGGTGTGGTGGTGCACACCTGTAACCCCAGCTACTTGGGAGCCTGAGGTATGAGAATCACTTCAACTTGGAAGGCGGAGGTTGCAGTGAGCCGAGATCATGTTCCAACTTGGGCGTCAGTGAAACTCTGTCTGAAAAAACAAACAAAAAAAAGAACCACCTTATATGGAAACATTTTGTTTTAATAGGGTGTAGACATTGCTCCTGTCAACTAGGTAGTATATCGTTTGTTGAGGTTTGAAGTTATCCCAGCTGGGGGTGTTTTGTTTTTAGTTAGGACAATTCAGCATTTTTCAGAATTTTCTTGTCAAATGACTTGAGAAAGGGGTTCCAAGATGAAATAAATTAAGGATAGTTCTAGGTAATAGAAAGTTACTTCAGGATTTTTTTATAGCCTTTTAATGTCATCATGTACACTGTGAATCTCTGGTGGAATGGGAATTTTTTTAAGTATAGTATTTACTAAAATTGCTTTCTCATAAAAACTCCCCTGGCTCATGTCTTAGGAATAGTGTTTTGTAGAATACATTTTGGAAAATTTGGGATGGATTTTTGCAGAGGCAGGCTTGTGTGTCTTTCTTTGCCTCTTCATATAGAAACTGAGAAATGAGAACAACTTCAAAGGGAGTAGAAATCTTTCCCAAAATTGTTTGAGAAATGTAGTCTCCTGTGTCTCCCAAATGGGCTTGCCTAGGCTAACATTAGTGCTCCACTCATCTTTGTAAGGACCTGTGGGAGCAGTGGGTATTAGATCTTACAGGTCACAGATGAGAAAACAGGTTAAGAGAAGTTAGGGAACTTGATCGAGGTCGCAGAGCTAGTAAGCGTCAGAACCAAGATGGTAGCCTGACCTCCACGCTGTACAGACTTCCATGCTGCACTGCAGATTAAGGAGCCAGGTCTTGCCTGGCACAGCAAGCCCAGGACAGATGGTTATTGCCATCTGTTATTATTTACTTTATTAGATATGTTGTTTTGCTCTTGCATTTTTTTCCCTTAGGACTCTGAGTTATCCGTATTTGAGGGAATGTAACATCTCAGAACTTACTCCAGAGAACTAGATTACCTTTTCTTACAGCCATATATCTTTTCCTTTGATTTTCTTCATTTTATTTTGGCCCAAGATTTTGCCTAAGTATGTGAAAATACTTTTACTTGCTTTCATAGGTTTTTACATTTCTCTCCTTTTGTGTGTGTGTGTGCGTGTGTGTGAGACAGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAGTCTCGACTCACTGCAACCTCCGCCTCCCCGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCCAACCTTAGGTGATCCACCCACCTTGGCCTACCAGAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTCCTAACATTTTAAATGTAGTTTTGTTTTGAGGACATAACCAGAATCCGGCAGTCTTTAAAAACTCTGATACAGAAATTATAAAAATTGACAGAACTCAATGGAAATGGAATTGGGGTACCGTTCAAGAACTTGGCATTTTAATAGAATTAAAAGTCAAGGACAAATCTGCATCCTGGTCATTGTCACCATTTGCAGCATTTGTCACAATTTTACATAAATAATATTTTGGCTGTTACTAAAATTCAAAGGGAATATAAAACCCATGAACTTAAACTGAAATTAGACTTAATACTTCAGAAAAAAAAAAAAAACTTCTGGGGAAAAAAATGTTTTGGTCTTGGTAATAGGTCCTTGTATAACTGCCAGAAACTGCTTCTATAGATATCACTTGTCATTAATTTCACATACTGTCTGATGCCCTTATTAAATGTATTTGAGTATCTCTTAAGAACCTTAAAAAGATATACAGCCCTCCTGCTAATTGCCTAATAAAGTTTTTGATGTTTATGCATTAAAATGCTAGAACAGTAGCAATAACATTCAGCCTGTTACTGATACTTTAATAAAACTTTTATTTCCATATTAATATTTACGTAAGTAAATATTGCCCTTTGATGCATAAACACTGTAGCAAATTCTTTCAACTAGACCCTGGCTCGGCCATAATAATAAACATTAGGCAGTGAGATCATTTTGCCCAAATGTAAAATGTTCTTCTTATCTTCATCTGAGAGAGGGGTCATTCGGTAACACGTTATTTAGCATGCTAGTAGGCTGGTGAAAAACACAAATGCTGTTGTTCTAATATTAACTCCAATGTTTCTGAGACACTGCAGTATATCATATCAAACTTTCAAATTTGGTAGTTCGGAAATGTATGATCTTCAAATTATTCCTAAATTAACCACGTTTCATTCTCCACGTGAGTCACGCTTGAGAAGTATTCTGGGTACTATCTGATGGCTACATCATATCATATTCTGTTTAGTCATGTTTCTTCGTGTGTCCGTTAGTGGTTGGCAAGTTTTCATATGGCTCTGTTGTTCTTTGATAGATTGCTCATGAAAGCGTGAGTGCTTTCAATCTTAGTGTACTATTAATAAAATAAGCCTAAAACAGAGGAGCTGAAACCAAACAAGAAGGAAATATTAATCTTGGGTGTTAGCCTTAAGGTTCTGTGCATCGCCTCTGAGGGTCTCTAAAATAAAAAGCAAAATAAATCTGTGCTATTTCACTGTCTGTGATCTGGGCAAGTAACTTGGGGGCTGCAGAAATTACACTGGTTCTCTTCCATTCTCTCAGGTCCTTTTAAAATTAAACCTTGAATTTGAAATCAGAGACCATCATGTGGCTATTTCAAGTACTCCAGGAATCTCCACTGGGAAATATTGTTTTCCTCCTTAAATGAAAGATAAATTTAAAGTTGAATAAAACCATAATGAATTATGTTTACTGAATAATATAAATGTTTGAGGATGCGAAATAAGTGTCAGATTTAATAGAAATTTTTGCTTTACTCCAG
Seq C2 exon
TAAATCAGGAGGAAATTCATCATCCAGTTTGGGTGACATAGTACCTAGTTCCAGAAAATCAACACCTCCATCATCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165995-CACNB2:NM_000724:4
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.380 A=NA C2=0.838
Domain overlap (PFAM):

C1:
PF0001823=SH3_1=PD(51.2=47.8)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
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

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development