Special

HsaINT0026564 @ hg38

Intron Retention

Gene
ENSG00000165995 | CACNB2
Description
calcium voltage-gated channel auxiliary subunit beta 2 [Source:HGNC Symbol;Acc:HGNC:1402]
Coordinates
chr10:18518336-18518968:+
Coord C1 exon
chr10:18518336-18518416
Coord A exon
chr10:18518417-18518909
Coord C2 exon
chr10:18518910-18518968
Length
493 bp
Sequences
Splice sites
5' ss Seq
GAGGTGGGT
5' ss Score
7.07
3' ss Seq
TATTGCTTGCTCAATTGCAGGTC
3' ss Score
9.09
Exon sequences
Seq C1 exon
ACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAG
Seq A exon
GTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGCTGAACTTCTTTGTGATGCTGCCTCCTACTCCCGACCCTCTCTCTGAATTTTACAGCTTAAGGAGCCAACTTTAGAGCTTAGAGAGCTCACAGCAGCAAAGCCTGTTGTTCTGCAAACTGGTATACACTGCTTCGTCCTTTTTCTGTTTTGTTTACCTGGCTGTTGCTTTGAAGATTTCTGCTAGCTGCAGTGTACTCAGTCCAGGAAATAGTGTCAAATGGAGACCGACTGAAACCACTTGCAATGTTATTTGTCACTAAAACATCATGATAAGTTCAGTTTAATTGTCATTGCATCAGAACTCAGAAGCAGAAAAATGCGGCAACCTCATATTGCCACTCTTTCCAGATGCAAAGCTCAGGTTTTCAAGCATTCCTAAGAGAAGTAAAATTGTTTTATCATCGTTAGTAATTTTTTTTGGTCATATCTTAATTTATTGCTTGCTCAATTGCAG
Seq C2 exon
GTCACAGATATGATGCAAAAAGCGCTGTTTGATTTTTTAAAACACAGATTTGAAGGGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165995:ENST00000324631:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.271 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0062516=Guanylate_kin=PU(38.5=55.6)
A:
NA
C2:
PF0062516=Guanylate_kin=FE(10.5=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
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