Special

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


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
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