Special

HsaINT0026532 @ hg19

Intron Retention

Gene
ENSG00000151062 | CACNA2D4
Description
calcium channel, voltage-dependent, alpha 2/delta subunit 4 [Source:HGNC Symbol;Acc:20202]
Coordinates
chr12:1904832-1906701:-
Coord C1 exon
chr12:1906584-1906701
Coord A exon
chr12:1904947-1906583
Coord C2 exon
chr12:1904832-1904946
Length
1637 bp
Sequences
Splice sites
5' ss Seq
GAAGTAAGA
5' ss Score
6.42
3' ss Seq
ACTCCCTTTCTTTGCTGCAGGGT
3' ss Score
10.68
Exon sequences
Seq C1 exon
CCCACAAACACAAGAAGCAGGACCCGCTGCAGCCCTGCGACACGGAGTACCCCGTGTTCGTGTACCAGCCGGCCATCCGGGAGGCCAACGGGATCGTGGAGTGCGGGCCCTGCCAGAA
Seq A exon
GTAAGACCGCAGGGCGGCGCCGCCCGTCCCGCCACACTCCTCCCGCCCTCGGCAAGGCGGAAGTGCGGGCAGGGCCCCGGAACCCCCGGGAAACGGCTCCACAGCCGGGAGGAGGGGATGCGTCTAAGTGCAGAGCCCACGCTCCCGGGGTCTTCCCCCGCCGTCCTCAGTGGAGGAGACACGCAGGAGGCGGACGGTCTGAGGCGGGCAGGACGGCTGGGGACCGGGACAGCCGGGATGGGGAGAGGTGGTCCCGAGGCCTGACCCTGTGTGTCGAGCCCACCCCGCCGAGGCCGCAGCCGTGACCCCACGGCGTCTCTGGGCGAGTGGGCCCTTCGGCGGGTCTCCCCCAGCCCTGCTCAGGCGGTGCCCAGGGCGGTGCCAGTGCCCGCGCCTGAGCTGCGTGGGGAGAACTTGGAAGGCAGAGGGAGTGTGAGAAGAGAAGGCCGGAAGTGTGCGATGTCCTCGGGTCGCTGGGAGCCCCGCGGGCAGCCTCTGTCAGGCTTCCTGCTGTGTGGAAGCCGCTAGTTATAACCCGCCCTGGCCCCGGGGAGGCAGGGAGGCCGCGCGGAAGGGTCTCTCCTGCTGACCCCCCGCACCCAAGCCCGGGAGGACCCCCACGCTGGGAATGCGGCGGCCTCCTCGAGGGTCGCCTCAGCCAGACGTGCCGCTCGCCAGGCGGTCCCTAGACCCCCGGGCCCGTGGCACACCATTTAACAGTGCGGCACCTGCGGCGCTGGCATCGGGGCTCCCTTCTCCCCCACTCCCTGCGCGTCGTGCTGCGCGGGTTTCACCCCGGGTTCTGTGCAGCGTTGAGGGCTGGGGTTAGCGTTCCCTGTGCACTTGTCGCAAAGGCTCGGTGCGAGGATAGAGCCAGCGGGCTCCGGAGTGAAGCGAGGGCTTCAGAGTAGACACTCCTGAATTGAAAACTGGCTCTGCGCTCCCCCGCTTATGACCGTGGGCAAGTGACTTCGCCTCCTCTAGTCTCCATTCTCTCATCTGCAAAATGGGCACAACACCAGCCTCATACAGAGCCGTGAAGGCTGAGAGTATACACGGCTGTGGTGTGCACGTTGGGTGTGTGAGACCGCCCATCCCAGGGGAGGCGCTCGGTAGGCGGCCGCTGGGACTGCTGGGAAGGCCGTGGGCCTGGCGGGCGGGCTCCGCCCCACTCCGCGCCACTCCTCGCAGGGCGGCCTCGCCGAGCGCGGGGCCACTGCGCCACCTGGTGGCCAAGCTCCAGCGCTGCCGCTTCGCCCGGGCCTGCCCCCGCCACCCTCACCCAGAGCAAGTGTTGCCTCGCCCGCCCATTTGCTCCGGACGGTCTTGATTTACGCCTGTCGTCCCTGCATATATTAATAGCAACTCTGCACTCTCCAAAGCGGCCCAGTTTGGACTTCCTCACTGTCTCCAGTCTGCTAGGAAAGGAAATGCAGCAGCAAAGGCTTGTGAGCAAAGCCAGTAGGACTGAGCCATCTGCCAGGCCCGTTCCCTTAGCTGCCCCGACCCGCCCTGCCTCATGGTTCCGGGCTTCCCTGCCACCCTAACTCCACACTAAAGTCTCCAGAAGTTCCTTCCCTAGAAGCCCTTCTCGTGGTCGCCACGGAGCCATCCTCGACTCCCTTTCTTTGCTGCAG
Seq C2 exon
GGTATTTGTGGTGCAGCAGATTCCCAACAGTAACCTCCTCCTCCTGGTGACAGACCCCACCTGTGACTGCAGCATCTTCCCACCAGTGCTGCAGGAGGCGACAGAAGTCAAATAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151062-CACNA2D4:NM_172364:35
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.025 A=NA C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
CCCACAAACACAAGAAGCAGG
R:
TTTGACTTCTGTCGCCTCCTG
Band lengths:
230-1867
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