HsaINT1006200 @ hg38
Intron Retention
Gene
ENSG00000151062 | CACNA2D4
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Source:HGNC Symbol;Acc:HGNC:20202]
Coordinates
chr12:1795299-1795780:-
Coord C1 exon
chr12:1795668-1795780
Coord A exon
chr12:1795382-1795667
Coord C2 exon
chr12:1795299-1795381
Length
286 bp
Sequences
Splice sites
5' ss Seq
AATATATCC
5' ss Score
-6.21
3' ss Seq
CTTAACAGTGGCTTCTGCACATA
3' ss Score
-3.39
Exon sequences
Seq C1 exon
GGTATTTGTGGTGCAGCAGATTCCCAACAGTAACCTCCTCCTCCTGGTGACAGACCCCACCTGTGACTGCAGCATCTTCCCACCAGTGCTGCAGGAGGCGACAGAAGTCAAAT
Seq A exon
ATATCCTGCAATGCTCGGGGATGTGTGCGGTGGGGGCGGGGGCTGTAGGAGGTGTCTGTAGGGCTCAGATTTTGAGCAGCGGGGCCAGCCTCCTTCACCGCCCGTGTCCTCCACAGGGCTCCGTTATTTGTTCTCTAACCCTTCCCTGGGCCCCGGTGCTGCCTCCTGACCCTAAAGCTGCTTGCAGGGCAACTGGTGGCACCAGAGCAGGTTCTTCCAGACCTTTTTCCAGTCTGCAGAATGGGCTCCGGTCCTGAGATATTGACCTTAACAGTGGCTTCTGCAC
Seq C2 exon
ATAATGCCTCTGTCAAATGTGACCGGATGCGCTCCCAGAAGCTCCGCCGGCGACCAGACTCCTGCCACGCCTTCCATCCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151062:ENST00000382722:36
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.082
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTATTTGTGGTGCAGCAGAT
R:
CTCTGGATGGAAGGCGTGG
Band lengths:
196-482
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains