HsaINT0026534 @ hg38
Intron Retention
Gene
ENSG00000151062 | CACNA2D4
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Source:HGNC Symbol;Acc:HGNC:20202]
Coordinates
chr12:1791957-1795381:-
Coord C1 exon
chr12:1795299-1795381
Coord A exon
chr12:1793760-1795298
Coord C2 exon
chr12:1791957-1793759
Length
1539 bp
Sequences
Splice sites
5' ss Seq
GAGGTGCGG
5' ss Score
6.79
3' ss Seq
CCTCTGCTCTGCGTTCGCAGGAG
3' ss Score
9.92
Exon sequences
Seq C1 exon
ATAATGCCTCTGTCAAATGTGACCGGATGCGCTCCCAGAAGCTCCGCCGGCGACCAGACTCCTGCCACGCCTTCCATCCAGAG
Seq A exon
GTGCGGGTTGAGGCGGATCGAGGGTGGGCTGGATTTTCATCCCCAAACCCTCTGTGCCTGGGTCTGTGCCCCTGCAGACAGGAGCATATAGGGATGCCAATGAACACACCTGTGCCTGTGCTTCTCGGGGGAAACATTCGCGTTTATGCCCTGTGACACTGTGATATAATAAGAAACAGATCTTTATTTAGTCTTTGTCCTGATTCCTGGCAAGCTCCTAAAACGCTTGTTATTTCCTGATTAGGGTGATAGGTGCATCTTTTGTTATAGTGTTTGGTCTTAGTCCCTGGTTCCTTCACAGGTGCCTCTAAGACCCTTGGAATGATAGAGGTATCTTTGTATGCTAATTAGATGACTGGTGGCTGGGGGCCCTAGACAGGATGAGAGCTGGCCACAGGAAACACCAAGTTAGGATTAGAGGGTTGGGACTTTTGGCTCCAAGCCCCTGGCTTCTGGGAAAGGAAGGGGGCTGGAGACTGAGTTGATCACCAGTGGCCAAAGATTTAATCAATGATCATAATGAGGCCTCCATAAAATCCCCGAGCCACTGTGTTTGGAGAGTGTCCGAATTGGTGAAAGGGTGTGGGAGCTCTGCGTACCCCGTGCCTTGGCCTACGTGTCTCTTCCACTCAGCCGCCTGACCTGCGTCCTTTATAATAAACGGGTCATGGTGAGGGAAGCACCTTCCTGAGTTGAGTGAGCCACGCTAACAACTCACGGAGCCTGAGACAGGCTCATGGGAACCCTAGATTTACAGCCAGTCTGTCAGAAGGACAGGAGACCTGGGGCTTGCGATTGGCATCTGAAGTGACGGCCACCTTGTGGGACCGAGCCCTGTAACTTGCGAGCTCTAATGCTAACTCTCAATAGTGTCAGACTTGAATTGAGTTTCAGGACAGACACCCAGTTGGTGTCCAGAGAGTGGGGTGGGAAAAACCCTTCACATTTGTTGAAGTGCTGGTGTGAAAGCACAGCAGAGCCCCTGTGTCATTAAAATACGAAGTCAACCAGGATCCCAAGGTGCTTTAACGAAGAGCCACGCTTCCTAGGGCTTGGGCCCTAGGTGAATTAGAATGCAGTTTTCCCATCTTGTCCTCATTCCCGCTACACTTAGTTCCGAATGATCGAGCAATGTGAGGGGGCCGTCACGTGGATAATAGTCATAGTGGCTGGTACGGATCCAGAACCCAGACCCAGGTGTCAGGCCCTGAGCCGGGTGCTTCATACAGTCTGGTCTGCTGGGACCAGAAACCCCCATCAGAGATGCTCCCAGAGTTGAGGACATTCTGAGAGGATGACCTCGCAGCCACTCCAAGCCTGAGGGCAAGCAGAGAAGGCCGGTGCCCCCCTCCCAGGCTGAGGGGCCAGCCTTTGCTTTTCCCCCAAAAGGTAGGGGCCTAAGAGAGGTAGCAGTGCTTCCCCGGCTTTCCAAAACTCCCCTTTCCCCAGGATTTTGGCCCAAATTAGTGGTGGAAGCCCCTCCCTTTTTGAGGGTCCTCCTCTGAGCGCCGCGCTGTCACCTCTGCTCTGCGTTCGCAG
Seq C2 exon
GAGAATGCCCAGGACTGCGGCGGCGCCTCGGACACCTCAGCCTCGCCGCCCCTACTCCTGCTGCCTGTGTGTGCCTGGGGGCTACTGCCCCAACTCCTGCGGTGACACCACCCAGCCTGACCTGTGTTTTGGCAAGGTGATCCTTCCAGAGCCATCCCAAAAAGTCAGCACTGACATGGGATGCAGCTAACTGCAGTTGGGTCGCCCCCAGGCCAACGCTCCTCTCAATCCTGGGCTGGTGGCCCCTGGCTCCGGAGAATGCTGGATGGAACAGGAAACCAATCACCTGGCACCACTTTCAAGATGCTTCATGGTGCCCGGTACCATCTGCCCTAGGTCTCAACATGAGCATACTTCTGACCTAACCTTCCTGTCTCCTCTTCGGGAAGCCAGCGTGAGCTCAGCTTGGACCAAGACAAAATAATTTAGTTCTTCCTGTACTCCAGAGTCCAGACCCAGCCAAGAAAGGGTCAGTTGTTTCTGACCCTTTCTGTCGGAGTGGTCTCTGGTAGAACCCAAGGACTTCTGGGTACTGAGAAGCAGCAGCAGAATGAGGCCAAATGCAGAGATGAGGCTAAGGCAAGAATATGCCCCAACTAAAGCATAGATTCCCCAAAGTGAGGCTCATGGTGGGAGGCCACTCACCTTCCTAGCTGCTGCTCGAAAAGGTTTTGACTGTGTTGGGGTGGGGGTTGGGTAAGGGAATGGTCAAGACTGAGAAAGGAATGAAATCCATTCAGGAAATATCGACAGGGCTACACGTGATGTCCCCAAACTGCTGCTATTGAAGAACTTCCCAAAACTTCTTTACAAAGCCCTAAAGGAAAGTTTGCATCTATGAAAAGCCAATAGGCTGAGACATCCAATTGCTGCATGGAAATTGATGTACATTCAGGGGACGGCAAAAATAGCTGTAAAATAGTGAAAAAGAGCAGTGGTTGTGCTCTTTTCTGGCCAATGATTTACAAAAGAATCTACTTGACTCTGTCCCTGGAGTGAAATCCTTAGGGTTGGAACTTGTGGGAACATTCCAACTTGCTAAGCAGGGTCCACTGGGAGGGAAGCTCTATCTGGGAACTCACCCCCAGCGCACACACATCTCCCCCAGGGTCCCAAGGCCCCGCAGCTTCCTCCCCCGACCAAACCCCAAGACCTGGATCCCAGGAGACAACAGTCTCCACAGTGAGAGCAACATTAAGGGCAAAGCCATGGAGAAATGTGGGAGAGGCCGGCCTCAAATCTTTCCATTTAACAAACCCCAGTGATGGGTATGGACAGCATGCAGGGCTTTTGGGGCGCTTCCCCCCGCTCCTCCATCACCCTCAGCCTCCACACTTCAAAGTTCAAGTTCAAAGCTGTTCAAGTTTCCTACCAGCAAATAGCCCTAACTTGCCTCTAGAGTAGGCCAAATGCCAACTCTGTAAAACACACTTACATTATCGGTTACAGAATGTCACTCTTACCGTCATGTCTTGCAACAACCCTGTGAGGGCAGTATTAATGCCCCCTTACAGCAGAAGACACTGCAGCTCGAAGACAGCTTAAGTGGCAGAATAATGCTAGAACAGCTAAGGTTTACATGTACCAAATAACATGTTTCAGCTCATTCCATCCTCACAACAGCCCCCTGAAAGTGGGTACTATCATTAGTCCCATGTTATAGAAACTGCAGCAGAGTTGAAAATTGCCTCCAAATTACCGGAAGAGTGTATGAAGATTGAATGTGATGTATTCACGTAACATGCTTGAAACTGCCTGGCATATACTAAACGCTAAATAAATACATGCTAACTGCGATCATTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151062:ENST00000382722:37
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.082 A=NA C2=0.117
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAAATGTGACCGGATGCGCTC
R:
GTTCCATCCAGCATTCTCCGG
Band lengths:
342-1881
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development