HsaINT1006204 @ hg38
Intron Retention
Gene
ENSG00000151062 | CACNA2D4
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Source:HGNC Symbol;Acc:HGNC:20202]
Coordinates
chr12:1886223-1887069:-
Coord C1 exon
chr12:1887009-1887069
Coord A exon
chr12:1886374-1887008
Coord C2 exon
chr12:1886223-1886373
Length
635 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAGA
5' ss Score
9.45
3' ss Seq
ATGTCCCTTTCTTCCTTCAGGTA
3' ss Score
12.9
Exon sequences
Seq C1 exon
GTATAAAATGGACACCTGATGAGAATGGAGTCATTACTTTTGACTGCCGAAACCGCGGCTG
Seq A exon
GTAAGAGCTCACAGGGGAAAGGTTTGCGGCCCGGGTATTTATCTCATAGCTTTTGGGTTTTGCCTCATCCTCCTCCACTTCCGCCCCTTCCCCCACCGCCACTCAAGGGCCTTGGGTGTGTAGAACCCTAGCCCGACACAAGAGCAGGAAGAGGGCCAGCATTCCTCCCTTCCCTCTACAATTGCCTTGCTCCAGGACTGATCATGTTTGTCTTTCCCAACCTAAACCTCCTGCCAGGACACTGAGCTGTCTCCACGTCAACCTTTTGTTAGGCTCTCCTCTCCTTCCACACCCCTTTTGTGGCAAGTTGGTAACAGAATCTGAAGCCCAGCTCTCTCCCTTTCTGCTGCCAGCCCCTCAGGGACCCCGGTTGGTCTAAATCAAAAGGAACAAGCGTTACCTCCAGGGCTTGACCTGGCCTGTTAGGTGGCACATCCCCAACCACTGCCACCCCAGATGGCTTCAGCACTGTGTCAAGTGGTTATGGAACATGTGAAACCTGGCATAGATGGGTTGCCCTGAACTTTGGGTGGGCTCGAGCCAGCATCTGAACAGAAATAACTGCAGACCCCTTGGTCAGGTATTGGTTCCGGCTTTGGTTTTCCCATCTTGGGCATGTCCCTTTCTTCCTTCAG
Seq C2 exon
GTACATTCAAGCTGCTACTTCTCCCAAGGACATAGTGATTTTGGTGGACGTGAGCGGCAGTATGAAGGGGCTGAGGATGACTATTGCCAAGCACACCATCACCACCATCTTGGACACCCTGGGGGAGAATGACTTCATTAATATCATAGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151062:ENST00000382722:7
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=PD(2.6=14.3)
A:
NA
C2:
PF137681=VWA_3=PU(24.7=80.4)
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:
TATAAAATGGACACCTGATGAGAATG
R:
TGATATTAATGAAGTCATTCTCCCCC
Band lengths:
206-841
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains