HsaINT1006181 @ hg38
Intron Retention
Gene
ENSG00000151062 | CACNA2D4
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Source:HGNC Symbol;Acc:HGNC:20202]
Coordinates
chr12:1882867-1884321:-
Coord C1 exon
chr12:1884243-1884321
Coord A exon
chr12:1883001-1884242
Coord C2 exon
chr12:1882867-1883000
Length
1242 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
3' ss Seq
CGCGGCCTTCCCCACCGCAGGCT
3' ss Score
9.45
Exon sequences
Seq C1 exon
GTCCGAGTTTTCACTTACCTCATTGGGAGAGAAGTGTCTTTTGCTGACCGCATGAAGTGGATTGCATGCAACAACAAAG
Seq A exon
GTGAGTGCCGGGCCAGCAGGTACCTTCCCACCTGCACCTGAGCACAGGAGACAGGGTTACCCAGCCCTGGAAGTGCTGAGCACGGGCTTCCCCATGGGCCCCTAAGAGGAGCAGTGCTATGTCAAGAACAGCAGCCTCAGTCCCTCCTTCATATTTGGAAAAAGCAAGGTGAGACAATGTCAGCTCTGTCTCCATCCTGCCCCCATTCTTTCTTTCAGCAAAGTAAGCCATGGACTCTGGTTCTGCTCCCAGACAAAAAGCAGAGGGTCACTGTTTTCTCTGGAATAATGTTTTGTGTGTGAATGGTCCTCATCTATCTCTGACCAGACCCCATTGATTCAACAAAAATTCACTGAGCATCCACTATGCACCTGGCCCCATTTCCAGGCACCAGGGGACCAAGAGGGATCAGGATGGACTCAGGGTCGGTCTACCTCTCAGTATTGTCCAGCAGGGAGACATACAAGTAAAACACCACCCACGATGCAGCCTGAAATGTGCTTTGATGGTGGAGAGACACAGACTGTTCAGGGTGCCGGGGGCCATGGGGGAGGCACTCTCCAAGTCAGTGGGGCGACTGGAAGGGTGTTCCAGACAGAGGGAACAGTGTGCTGAAAGGGTCTGAGACCTGCTGGGAGCAGAGAGGTGCTGCATCTCACTGGCGAGGGGGATGAACACGGTGGGAGGTGGGGGCGTGGAGAGGCCATTCACAGCCTTCTGCGCCATCTGCGCTTTGGAGTGTCACCATGGTTCCAGGGAATAGGCTGTAACACCCACCCCACAACCTGAGCAAGAACAAGGACCAGAGGAAGGAGGAGCGGAGAGGCAGAAATCTCTGCCTCTGATTGGGTTCCCTGAAGAGACCTAAGAGTGGCAGAAGAAAGCTTACAGGGCACTCTCATGAGATGTTCCTGTGAGGAAGTGGGAGGGCGAGGCTGGGAGAGGGAGAGGCTGACCCCCAACACTCTTGCGTCAGGCCCTGCTGCTCCTTCCGGAGCTCTGGGTGGGACAGCCCCTCAGAGATCTTCCAGGGTGCAGCAGAGTGAGCCTTGGCCTCCCACTGGCCTGCGGCTGCCCCTGGGTAAAGGACACAACTGTGGGGAAGCAGCTCCCTGTGCCCCGGTCCAGTTTCCAGAGAGTATTCGGCTATGAGCCATCTGCAGCTGGGGAGGGTGCAGGCCCTGGCGAGGGGTTCCCAGGGAAGCCCTGCCTTCCACACCCACGCGGCCTTCCCCACCGCAG
Seq C2 exon
GCTACTACACGCAGATCTCAACGCTGGCGGACACCCAGGAGAACGTGATGGAATACCTGCACGTGCTCAGCCGCCCCATGGTCATCAACCACGACCACGACATCATCTGGACAGAGGCCTACATGGACAGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151062:ENST00000382722:12
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=0.098
Domain overlap (PFAM):
C1:
PF137681=VWA_3=PD(15.5=92.6)
A:
NA
C2:
PF137681=VWA_3=PD(2.4=8.9),PF0274313=Cache_1=PU(12.1=17.8)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCCGAGTTTTCACTTACCTCA
R:
TCCATGTAGGCCTCTGTCCAG
Band lengths:
206-1448
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains