HsaINT1006201 @ hg38
Intron Retention
Gene
ENSG00000151062 | CACNA2D4
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Source:HGNC Symbol;Acc:HGNC:20202]
Coordinates
chr12:1907875-1909965:-
Coord C1 exon
chr12:1909906-1909965
Coord A exon
chr12:1908038-1909905
Coord C2 exon
chr12:1907875-1908037
Length
1868 bp
Sequences
Splice sites
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
3' ss Seq
GCCTCACCCGTCCACCCCAGTTC
3' ss Score
5.79
Exon sequences
Seq C1 exon
AATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTG
Seq A exon
GTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTACCAGATATGGGGGTGGCGGCATAGGGTGGCGGCGTAGGGTGGCGATCCACTGATTCCATAGACATTTACTGCTCACCCCTCACAGGCACAGCAATGTGCTAGCCTCTGGATCGGAACTTGTTCTTGACCTCAAGAAGCTCACAGTGCAAATAACTCCGGTATAAAGCACATCACAAGTCACTACAGATGGGTGGATGGAGCCTCCGGGGAATGCAGGCTGGAGAAGAGGAGGTCTGCCCCCAAACTCCTGCAGACAGGGCGGCCTGGGGCTGCGCCCAGGGCTCATGGGGGATTTAGGCAGGCAGGGCCTGGAAAAGGGCCTTTGGTCACAGCAGAAAGAAAACACAGAAATAAGAAAACACGCCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATGCAAAAAATTTAGCCGGGCGTAGTGGCAGGCGCTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAATAAATAAATAAATAAACAAATAAATAAACAAACACCAGGTTGGTTGAGGAAACAGTGGGACCTGGGCCCTGTGTGTCCAGAGGCTGGTGAGGAAGGCAGTGGTCTTGGACAGTTAGGTGAGGAGGTGGGGGGAGCCTTGGGTGTCAGCGTAGGAGCCTGAGCCTTTCTCAGCAGGGAAAGGCAGGTGCAGAAGGCTTGAGCAGGGCAGGGACGCGGCTGGGAGTATGCGTGGAAGGCCAGCGCGGGCCACAGTGTCGTGAGGAGGAGCCGGGTGTGGGGTGCAGGAACCTGGCGTGGGAGTTGGCGTGGGGATGTCCGTGACGCAGTCCGGCGTGGGAGTTGGCGTGGGGATGTCCGTGACGCAGTCCGGCGTGGGAGTTGGCGTGGGGATGTCCATAACGCTGTCCGGCGTGGGAGTTGGCGTGGGGATGTCCGTGAGGCAGTCCGGCGTGGGAGTTGGCGTGGGGATGTCCGTGACGCAGTCCGGCGTGGGAGTTGGCGTGGGGATGTCCGTGACGCAGTCCGGCGTGGGAGTTGGCGTGGGGATGTCCGTGAGGCAGTCCGGCGTGGGAGTTGGCGTGGGGATGTCCGTGACGCAGTCCTGGGGGGTGTTCAGGTGTGAACCCGGTCGTGTGGAGGAAACGGGGCCGGGGCTCCACCGGAGGCAATCCTAGCACGCCCTCCAACACCGCGTGGGAGAGGCCGAGGGCAGCTGCGGGACTCGGAACCTGGGCCCCGTCTGAGGCCAAGGCTGCAGGCCCCAAGATTGCGCAGGCTCGGTTCTGGGGCTCTGGGACCTTCCTGGCCTGCGAGAAGTGGAGGGGGCTGATGGGGCTTTTTGTCTCTACCTGTCCTTGACTCCGCGGCTGCCTGTCTCCACTCTGCCTCGGCCGTGTCAACACACGCTGCACCAAGTTGGGGACTGAGGCAGCGGTCAGGACAACTGTCATCAAACGTCGGCCTCACGCCTCTCCGCGCCGGCCTCCTGGATATTTTTGTCCCGAATCGCCCTGATCAGTGCCCAGCGCGCCGCCGCGGGTGCTTGTGTAGACTCTGATGGCCGCCCGGCCCCGGCCCTCTCGTCCTCTCACCTGCGCCGTTTCTCTTCCTCTCTCTCCGCCTGTCCCGGTGCTCGGGCCGCCTCCGTGGGCCTCACCCGTCCACCCCAG
Seq C2 exon
TTCGACTATTACAACTCGGTCCTGATCAACGAGAGGGACGAGAAGGGCAACTTCGTGGAGCTGGGCGCCGAGTTCCTCCTGGAGTCCAATGCTCACTTCAGCAACCTGCCGGTGAACACCTCCATCAGCAGCGTGCAGCTGCCCACCAACGTGTACAACAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151062:ENST00000382722:4
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=0.000
Domain overlap (PFAM):
C1:
PF083996=VWA_N=PU(12.0=70.0)
A:
NA
C2:
PF083996=VWA_N=FE(46.2=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AATCTGGTGGAAGCTGCCGAG
R:
CACGTTGGTGGGCAGCTG
Band lengths:
213-2081
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains