HsaINT0026531 @ hg38
Intron Retention
Gene
ENSG00000151062 | CACNA2D4
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Source:HGNC Symbol;Acc:HGNC:20202]
Coordinates
chr12:1797418-1799695:-
Coord C1 exon
chr12:1799675-1799695
Coord A exon
chr12:1797536-1799674
Coord C2 exon
chr12:1797418-1797535
Length
2139 bp
Sequences
Splice sites
5' ss Seq
ACTGTAAGT
5' ss Score
8.59
3' ss Seq
TGTCCTTTCTCCGCCCGCAGCCC
3' ss Score
12.35
Exon sequences
Seq C1 exon
CCAAAAGTGTCTTCCATCACT
Seq A exon
GTAAGTAGCCCAGCTGAGGCCATCCCTGCTGGCGGTGGGTTGGGGACGCAGCAGGAGCTACAAAGAACCCACCCTCCATGACCTGTCCCAGGAATGACCCCAAGCAGGGCTGAGCTCTCCTGGTTTAAAGTACCATTCCTGGGGGTTGGGGGACTGGGGAGTCTAGCCCAGTTCTCATCCCACATGAGGACGGTCAGGCCCCAGGGAAAATGAGAAACTCCAGCCTCCCCTTGGGTGAGAACACGTAAGATTCCAAGAGGAAGCCGGTGGTGTGGCCGGGTGGCCATGAGCCAGTATGAGTGAGCAACCTCCAGCCCACCCCTTGGAGAAGCAAACAGCGGCACCCCAGCCCTCAGCGGGACTCCGGGTTCCAGGGGCCCCAGGAAGCTCTCAGGATGATTCCCCTGCGGGACCCTGTGTCTGAGGACAGAGTCCCCCAGAGGCAGCAACCATGAGAGGCCCCAACACAAAGCCCGGTGGCTGTGGCCACACGTGCAGGGCGGCAATGAGCCTGGCCTTTCAAAGCACTCACTGCCCGGGCGCCTGGGCCCTCCATGACTGCAGGAGGCCATCTTGCCTCAGCGGGCTCTGCTCAGTTCCTCCGTGTTCCTAGAACCTTTGCCATGGGGTTCCAGAACTTCCCACCACCTGGGCTGTCCCCAGCTTATCCCATCTCTTCATCTCCACTGTGGTCCTCTCTCTGGCTTGCTCTTCGTTCTCTTCTGCTGGCCTTGGCTTGGGGCTTCCTCTGCCCCTGGGCTCAGGGCAGTTCGGGCTGTGTCTCCAGACTCCTTCTGGACTCACATCCGCGATCGGGTGGGGCTGCTCTGGGGTGTTCACAGTCACTAGGTGTCAGTGACAGGACACTGTCCCCTCTGTCTCTGTCAGCAGCTGCATCTTGCAAAAGTTGAAGATGATCCCCCTCAATCTGCCTGCTCAGAATTTCTCTTCTCTGGGGTACCTGTCCCCTGGAGCTCCTCCCCCTGGTCTGGCCTACACAGATGTCAGTGTCCCCAGTGAAGGCGCACTGGACTTGGAGTCCCAGGCCGGGGCGTAGGTGCTGCAGCCCCTTCCACTGCGTGACCCTGGGGACGCCACTCAACCCTGCCATTGTCAGGCAGGCTTCTGTGCCCAGCCCTGGGGACAAAACTCACAGCCCTGGCCGCTGTGGGCTTGCTCCTCTCGGTGAGAGTTTTCTGCACGCCAGCTAGTGTCCCCTCTGGGTTTCCAGCTCTGGCTGGGAGCTTCTGGATTTGGAAGCTGGGGAGACCCATGCTCTCCTGTAGGACTCTGCATGAGCCTGGGAAGGTAGCTCACACCTGTGCTCCCTGCCTCTAGGTCTATCCCTGGGGGCCACAGCCAGGCCCTGAGAACAGAAGGGCCATGCAGACAGCCTGTGTGGCAGGGCCCTGCTCTGCCATGTGCCCACCTCAGGAGGCTCCGGGAGGGAACGGACTCGGGTCCTGCAGAGCGGGGCTGAGGCACTCGCCTCCACCTTTGGTTGAGTCCACTGTCCTTGTCCCAGGGAGCTAAGGCAAATCGCGCAGCCCCCGAGGAGTCCCGCACCGGGTGGCTGTGGCTTCTGGGCTTCCGCAGCCCCAGGCCTGGAGCCCACCTGCCCGGCTGCCCCCACCGCAGGCGCTCAGGCTCAATGGGTGGAGTGTGGGCCTGGCTGTGCGGGAGAGCAGGGCAGGATTGCCCAGGAACTGCACTGCGTCTGTCCACAGTGAAGGGAGGGGTGGTGGGCCTAAGTACCCCCAAGCCACCCCTTGGTGCCCCTACTGCCTCTGCTCCCCGCTCAGACCCTCCCCCGGGATCTGAGTGCTGGAAGGGGCCCTGGAGATGGTGCACTGCCCCCAGCTCAGTGAGGGCCAGGCTCCCCAGAGGAAGCGCTTTCCCTCCACCGAGGCTCAGGGCCCCTGCGGCGCTCCCCGTGCCAAGCCACCCTCTCCAGAGACTCCGGGTGTCTTCCCTCCCCTCACCCCCCGCCCGGCTCCTCCCACGCGTGTCCTGAGAACTGCCTGAGGAGGGACCCTCTGCAAATGCACTGGGGTGAACTCTGGCCCTGGGAGTGCCGAGGCGAGGTCACCGCAGGCCAGAGGCCCCTTCGGTGGCGTGATGTCCTTTCTCCGCCCGCAG
Seq C2 exon
CCCACAAACACAAGAAGCAGGACCCGCTGCAGCCCTGCGACACGGAGTACCCCGTGTTCGTGTACCAGCCGGCCATCCGGGAGGCCAACGGGATCGTGGAGTGCGGGCCCTGCCAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151062:ENST00000382722:34
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.113 A=NA C2=0.025
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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