Special

HsaINT0026556 @ hg19

Intron Retention

Gene
ENSG00000165995 | CACNB2
Description
calcium channel, voltage-dependent, beta 2 subunit [Source:HGNC Symbol;Acc:1402]
Coordinates
chr10:18823005-18825125:+
Coord C1 exon
chr10:18823005-18823156
Coord A exon
chr10:18823157-18825029
Coord C2 exon
chr10:18825030-18825125
Length
1873 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGT
5' ss Score
11
3' ss Seq
AAACTCATTATCTTTTACAGGTT
3' ss Score
8.08
Exon sequences
Seq C1 exon
CGGAAGTTCAGAGTGAAATCGAAAGGATTTTTGAACTTGCAAGAACATTGCAGTTGGTGGTCCTTGACGCGGATACAATTAATCATCCAGCTCAACTCAGTAAAACCTCCTTGGCCCCTATTATAGTATATGTAAAGATTTCTTCTCCTAAG
Seq A exon
GTAAGTAGGACTGCTACTGTTTGCTCTATAATCAAACTTTCCTAAAATGTATTTTATGTTCTGCTTTCTATAATTAGGCTATTGTAATAGCCTTTATGATGTATAGAGAATTTGAGGAGACATGATAGTCAAGAATTTTTAAATTGATATAGTTTCATGGCTTAGAACAGCTGTTCTCAAAGTGTGGTCCATGGATCCCTGGAGAGTGTTGAGACACTTTTAGAGGGTCCATTTAGTCAAAACTACTTCCATGATAATACTAAGACATTATTTGCCATTTTCACTGTTTTGATATTTGCATGGCTGATGCAAAAGCAATGGTGGGTAAAACTGCTGGCGTCTAAACATAAATCAAGACTGTGGTATCAAAGTACCAGCAGTTACTGTATTCACCGCCACCATGCTTTCGCAGTTTGAGGGGAAAAAAAGCCAATTTCACTTAATGTCCTTATAAAGTAGTAAAGTTTATTACTTTTATTAAATCTTGACTTTTAATATTCAGTGTACTAAAACAAAGTACACACAAAGCTCCTGCTGTATACCAAAAAGTAAGGACAAGCACTGGTTTGATTGAGTTGTGAACTAAACTAGCCATGTTTTTCATAGAATACCATTTTTATCTCAAACAACAACTGACAGGCTATGCTTATTCCGACTTGGTGTAGCAGATATTTTCTTGGACAAAATAAGCCTGTCACTTAAAGGAGAACAGCATGTGTTGCCAATGATAAAACTCAAGCTTTCAGACAACAATCAGAATTTTAGAAAACTTGTATGCATCTCTGAGAACTTGCAAGCTTCCCAATAAAGTTTTCTCTGAGATCAATGGTAATATTAATGAATATGATGTTTTAATAATGTATAATGAAATATGTCAACATTTGGAAGATCTGAAGTCAGTGAACCATTATTGTTTGTATGATCAATGAATAACATTAATTTTCAAGACAGACCAATGGAATGTCATGGAGTAAGAAAATTGCACTGCAGGTTCAGATTCCACATAACAAATAGTCTTTAAGGAACCACCATTTGTTGAGTTTTAGTGTAGTATCAAAGAAGACTATACTAAATTGTTTCTCCTTTTCTCAATTACAAATCTGTAGGAGGTTGGATTTTCTTCACGTATTTCAACCAAAACATGACATTGCAGCAGGTTGACTGTAGAAGCAAACAGGAGACTGCAATTGTCTTCTATGAAGCCAGCCAGCCAGCCATTAGAGAGATGTGTAAAAATGTAGCTATTTTTATTAAAAAAAATTCGGCCGGGCGCAGTGGCTCATACCTGTAATCCCAGCACTCTACTAGGCTGAGGTGGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTACATCTCAAAAATATATATATATATATTTTAACATGTATCAGATTTATTGTGAATTTTTAAATAAATGTTTTAATAGTTTTCCATTTTAGCTTCTTTAAAGAGGTTGTGAGATAAAATGTTTGAGAGCTGCTAGCATAGAAAAAATGTGAGTGCTTAAAGCTTGCAACTGTGATTTATGTTAACATGTTAATTTTGCAGATAATCTTATAGCTCCATCTATTATAAGCCCCTTGTGCTGTATATAAAAAGGCCCCAGAGAAAGGAGTCAATAATGTACCTTGTACTTTACCTGGATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAG
Seq C2 exon
GTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165995-CACNB2:NM_000724:10
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.037
Domain overlap (PFAM):

C1:
PF0062516=Guanylate_kin=FE(27.6=100)
A:
NA
C2:
PF0062516=Guanylate_kin=FE(17.1=100)


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)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGAAGTTCAGAGTGAAATCGA
R:
TGGAGGACACTGAGCCAGTTT
Band lengths:
248-2121
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