Special

HsaINT0026480 @ hg38

Intron Retention

Gene
ENSG00000157445 | CACNA2D3
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 3 [Source:HGNC Symbol;Acc:HGNC:15460]
Coordinates
chr3:54880796-54885326:+
Coord C1 exon
chr3:54880796-54880863
Coord A exon
chr3:54880864-54885280
Coord C2 exon
chr3:54885281-54885326
Length
4417 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
3' ss Seq
CCCTTCTCCTTGACCCCCAGGCC
3' ss Score
9.96
Exon sequences
Seq C1 exon
TTTAGGTGTGGCGCTTTCCAGAGGTCATGGGAAATATTTCTTCCGAGGGAATGTAACCATCGAAGAAG
Seq A exon
GTAAGATACTGCCTGGCTCGTCTTATCCTTTGGTGTGGGAGGAAAGCTCGGGAGCTAGCTACTGAGTTAGCTGAAGAACTTGTTCATCTGTCCGCACCTGTGACCAGTCCCTTGGACATTCCACTCAAACGAATGCCTACTTGATAATTCTTAATACCTTTCTTCTTCCCTGGTGTGCCTAGATTTCAGAATGACAGGAGTTCCGATTCATGGTTGTGATTTAATTTACTTATATTCTACTTTCATCCACAAAGCTGTTGACTATGAGTAACTCACAGTCAACAGCATTATGGATGAAAGCAGAGTATCAGTAAATAGGAATCATCCCTCAAGTATATTCTTCTCATACATAAAAATCAGTACTTGGGAGAAATACAAATTTATGAAATAACTCATGCCCAGGGGAAACCATGAAAACAGAGATATGAGAGCCTTAGTCTCTCCTACACAGTTGAGCCACGTATTTCACTTGTGTTTCATGGCAGCCCTGGCCCAAAGGGAAATGTGACCATTTAAATGATTTACATAGGTCAGAGGGAGTAAGTAGCACCTTGAAGTTCCCAGACCCTCTTATCTTCATAAAGCACAGAGGCACAGTAAACTCTCAGTAAACAGGAGCAGTTGTTATAGCTCTTTAAATTTTAAAATTGCTGTCACATGTGCTATCCTTTTCATCTGCCAGCTCCCTAGTAGTTCAGAGAGGTTACCTGTCCCAGCATTAGGAGCTCACAGGGGTGGTGGACATTGTTTCTGAAGGGCACCACTCCCTGAGTGGCCTTGAGTGACTCACTTGCAGGTCATTAGGTTTTGCATGTCCACAGAGGAGGAGTGGGCCCAGAACAGTAGTCTTTCTGGATGTCTTTAGGGAGGACAGCCAGGAATGGGAAGGTCAATTATAAGCAAAGTTTTAATTGGTCGGAACTGATTACACATGTATGTGGTGAGTTTCCAGAAGCTGGGCCATCCATGGCGCCCTCAGATGATGCCACAGGGCGTGAGGAAGGAGATGGATGTTCCCTGAGACGCCAAACCCCTAGATAGCCTCTGATTTACTGCCAGTGGTCCCTGCCCGTGTTGTTTCAGGGATGTTGGTTTGTGCTTCCCAAGTGCTTGTGAGATCGTATAGGGGCAGAAAGGAGAGTAGAGAGGCTCACTGTGAGCTGGGCACAACCCAGAGTGTGCCCACCAAAGAGCTAACCATGTGGTCTCTCTTCCCAGAGACATGCCAGAGAACACAGGCAACTCTGTGACTTGAGCAAGACACTCTGCAGGATGTGTTTTCAGGATCATGTTTTCACTTCTAGAATTTTCTGCCTCTGTGGGCCATGTTGGCTCTGTGGACATCACTGCCCATGAAGCCAGAAAATTCATGTCTAAGCCATGTGAGGTCACGCTGAAGAAACAACTCATGGTCAGAACAATAGGAGAGGTTATTAAGAGATATTAACTGCCTCTCATGCGTCTGCTCCCTTGGTCAATCCTCAATACATGGGCCTGTCCCTCCCTTCCTCTCTCTCTCTCTCTCACACACACATACATACATACATGCATGGAGACACAGATACACACAGTTGTTTTGCATTGTCTTTTGGATTCTTTTTCAGTCACTATCTTCCTGTATGTTCCACAGCTGTGAGGCTAAGCAGTCACAGAGAATTTCAGAGCTAACTGTAACCACTGTGCAAAAAATTAGCTCAAATCCTCAGCAAGGGGGAGAGTGGCTGCTTATCCACCCAAATGAGGTCATATCTTCCTCTCTCTGTTGGTCCTCTGTAAATAAAAAGACTGACAATCCTGCCAGCTTTGCTGAGTAATAGAACTTAAGAAAGCTGCTTCCCCTTGGGCCAAATAGTAGAGGATCTTGTCATCTCTCTAGGAGCCGTGGTGTATTATTGTTCTCTTCTGTTCTTGGAGAGGGAAGGAGTTCCTTGGGGTTGGCAACCATACTTCTATAGGATCTTCAATAAGGAATAACTGCCTACAGAATGTGGGAATTTTCCACATGCTTTGCCAGTGCCAGAGATTACAAAGGCGGCAAATAGGTAGCTTTTGCTAAAAAATATAAAAAGTCATTACCAAGATTGAAGGTGTGGGCTATAATTCTACCTGCTGAAATTGTTTCTCTTATGAATCTTTTAATCTTTTTCAACACTTTGTATCTTTTTGTGTGTGTGTGTGATGGAGTCTTGCTCTGTTGCTGAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACTGCAGCCTCCACCATCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGCATGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTTAGACTGGTCTCGAACTCCTGACCTCGTTATCTGCCTTCCTCGGCCTCCGAAAGTGCTGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCACTTTGTATCTTTTATATGTATTGCACATGATAATTGTTCAACAAATTAGAGCTTATGTCATTATTGTCAACAGTTCCAGTCATCAGTGGATATGATTTTTATCAGAAGGACCAATGTCAGAGGTGAGAGAATTAGAAAGCAATTAAATTTCCTTGGTGCCCTAGGAACCCAGAGAAGAAGCAGTCAAAAAGATCTTCCCGATAGATCTCATCTTTTCTGAGTGTCATTTATAGGTCCTGTGAAATAGAGCCAGAGATGATTTTGTAAATGAGGTTGGGAGGATGGGAACTGCAACTAGAAAAAGACTTGACACTCTAAACCCAGTTTTCTGGGAAGGTACAGTCCCTTCTCAGGGCCTTTGCACTTGTTATTCCTTCTGCCATGAGCACCCTTCCTGCCACCTACATGACTCTTCCTTTCCTCATTCAGGTCACTTTCTCAGTGAAGCCTTTCCTGACCTCCATAGTTACAATGGAATCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCCCTTCAACCCTCCTTATCTCTTGGTCCTCCCTGTTCTTGTTCCATGTTCTCTTTTCCTTTTTAGCCCTTGCTACCATCTGATATTCTCTAAAGTTAAATTTTAATATAATTTACTATCTCTTTTCTGCCACTAGAAATTAAATACAATGAAGGCAGTAATTTTCGTTTTGTTTTTTCACTGCTATATTCTCAGGGCCTAGAATCATACCTGGCATATAGCAGATGCTCAGTAAAAGTATGGAAGAAAGGAAGGAATGGGAGGAGGGCAAAAGGAAGGAAGGAAAGTTGTTTGGTTGGGAAGAAGGAAAGGAAAAAAAGAAGAAAGGCTGCACAGATAGATGGATTGTACTAGGGACTAATCCCTGTCCCATTTAACTGTTTTCTGGCACTTGTGAGCTATGCAGTATTACTTGTATCTCATGGTAGATATAACTCAAAGAGCTGACATGACATCCCCAAGGTCATTCAGCCTGTAGGTGTTGGAGCGTGGGTATGCCCACTTGGATCATATGCAATGATGTTCATTCTAATGTATTCTCTACTTTCTGTAAAATCAAGCAGAATTGTGTGATAGGTCTAGTATTTTGCTACTTCTTTTATAGATTTGTGTTTGAGATGGAAACTGGAGTCCTGAGTGCAGTAAGATACTATCAGTCATTTAAGAAACTAACTTCCCAAAACAGGCTATAAGCATCATGGGAGTTCCCGAGGTCATCATTCAGAAGTGTATGTCTGCTGATAACCCATTAAGATCAAGCCATGTGAAAGTGCAATGAAACAGTTATCCTTGCAGAGTTAGGATGGTCTGGAACCTTCTATTAAAACTCCCAGATTCCATGCAAGCCCCAGCTCCCCTAGTTTCCTTCCCAGGCGGATGACCGTTTTCACTTAGGATCCTGTAACAACTAGCAATCTTTGCTGCTCAAAAACAGTTGAGTATTGACGACTTCATATTGTTCAACCTATGATTTCACCCTCACAACCACACATCAATTAGGGACTACTATTCCTGCTTTTCACATGAAGAAACTGACGTTTAGAGAAGTAAAATAACCTGTTGACATCACACAGGAGGTCAGTGGCCTAGCCCGGTTCCCAACTTAGACTAAATGGAGCACCAGAGAGAGTGTTTCTAAAGTCCTGTTAAGCTTCTCCCTCCGGACTCATTTGTGTATCCTCTATCTTCAAGGGGTTAAGGTTTTCCTGGGATGAACAGCCAGGGAAGGTGGCAGTGCTGGGCTGAGTGAGGTAGAGATGGGGAGAGAGTCCTGCCTGGAAGGGAACTCGTTTATTTTCCTCAGAAAATAAACCTGCTGCTCCAAGGCAGGTCCCTTAGGGTTGATGTCTACCCTTAACCCACCCCGCAGCCCTACCCTAGAATATTTGAAGCACACAGGAGGACTGGGGGAGTGATACTTATTCATGAACCCCTTCTCCTTGACCCCCAG
Seq C2 exon
GCCTGCATGACTTAGAACATCCCGATGTGTCCTTGGCAGATGAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000157445:ENST00000474759:21
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=0.056
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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