Special

HsaINT0026557 @ hg19

Intron Retention

Gene
ENSG00000165995 | CACNB2
Description
calcium channel, voltage-dependent, beta 2 subunit [Source:HGNC Symbol;Acc:1402]
Coordinates
chr10:18825030-18827294:+
Coord C1 exon
chr10:18825030-18825125
Coord A exon
chr10:18825126-18827108
Coord C2 exon
chr10:18827109-18827294
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-CACNB2:NM_000724:11
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.037 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),PF068127=ImpA-rel_N=WD(100=45.2)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


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