HsaINT1006182 @ hg38
Intron Retention
Gene
ENSG00000151062 | CACNA2D4
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Source:HGNC Symbol;Acc:HGNC:20202]
Coordinates
chr12:1879804-1883000:-
Coord C1 exon
chr12:1882867-1883000
Coord A exon
chr12:1879882-1882866
Coord C2 exon
chr12:1879804-1879881
Length
2985 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
3' ss Seq
TGTTCTCCCCTCCCTTACAGCTC
3' ss Score
12.56
Exon sequences
Seq C1 exon
GCTACTACACGCAGATCTCAACGCTGGCGGACACCCAGGAGAACGTGATGGAATACCTGCACGTGCTCAGCCGCCCCATGGTCATCAACCACGACCACGACATCATCTGGACAGAGGCCTACATGGACAGCAAG
Seq A exon
GTGAGCCTGGCAGCAGCTCCCAGCTCGAGAAGCCCACCTCAGAGTTAGGGACCCCAGGGAGTAAGAAGTTACTTCCTGGGTCAGGAAAGGGGTGGGCCTAGCACCTCCTTAGGGAACATTAAGAAGGGGCGAATGAAGCCGCTTTTCCATGCTTTTCCTCCTCTTTTCCTGACAGCCCTTGGCCCACTAATGGGACCACTGCTCATATGCTGCCTTAGACCCCCAGCAGACCTGCCTGAGGTGCTCTCCACGGACAGGGTCCCTGCTCCGAAGTTGTTCCTTCCTCCTCCTCCACAGTCCTCGCCTCCCTCATCATCCCTCCCTCCCACCCACCCGGGACAGAAAGGGGTCAGACCAAGAATCCACCATCCCACAGCTGGAACACGTTCTCCCTTCCTGGGTCCCTGCATTTTCAAAGGACTGTAGGCAGCAATGACTTGCACGAAAGAATGAACATCAAAGGGAGAGCTTCACATGGGACCTTTCTGGGGAAGGGAGACCTTTCTGCCATTTCTCAAATCCCCATCACATAGGCAGCCACCTGCTTCAGTGATGATGTATCAGGCTGGGCTCCAGAGAGACCTGAAAAGAGTGGCTTAAATAAGATAGAAGTGAATGTCCCCCTTGGGTAAACAAAGCCCAGAGCTGACCACGAGCTCTCTGGCCTGGTCATCAGGGACCCAGGCTCCTCCCTGCTGTCCCCTTTGCTGTCCCAGCCATGTGGCCCTCATCCTCATGCTCAGGAGGCTGGTGGAACATGAGTCAACTGAAACCACACTTAAGCATCAGGCTGTGGAAGGGGAAGGGGGATACTTCGCCCCTGTGAGGGAAACTTGCAGGGACTCTTGCCAGAACCCAGAATTCACCTTTCACTGGCCAGAACTCAGTCCCTGTGCTGACAAAGGAGGCTGGGAATGCAACGAGGCAATGGTCAGCTTTCTTCTGAGTTGCTCTATGTCCAAAAGCAGTGGCATGCTTACTTACCTCCACCTGTTAATAGTAGACATAAGCCATCTGGCCAAATTTGGGATGAAAAGCTCATTAATCTACTTTAAAGGGGCTCCGCCAACACGGCCATGCTCAGCAGATGTCATCTGACCATCACCGACTGCTGCTGAGAAGAGACGAGCTGGCTGCCTTTGGGCAGGGCTCTCCCTCCCTTGTCCAAGTGTTCATAGGGCCCTGAGTGTCCAGGTTTGATGAGAGAGAGGTGGGTGGGGAGAAGGAGGACAGGAGGGGATCTTCTTTGAGCTGTCTTCCTGTGAACCCTGGCACCTGCACTTCCTCTCCATCACCCGTGCATTCATCTGCCTGCCAGTAGCCAGCCCAGCAGGAGGGGCCAGGGCTCCGGTGCTCCGTGTGGGCCTCCCTCACCTGGGAGTGTTGTGGTCATGCCACGGGAGCTGGAAAGCGAAGGCTTTCAGAACCATGAAATCCGATGAGAGAAGCCGGGCATAGGCCATACCTGCTGAAGGTGGCCTGGAGTGTTGGGTGTGAGTTTGGCAGAAGGTGGGTAGAGGCAACCCCAGGTTCCCTGTGTGCTGCAACTGATGTCAGACGGTGCTAGGATGTCCTTAGCATTCTATGGACAGCCTGACCTTCTGACGCTCTCTTACCTCCACGCACACAGACGAGGCCACAGTTCACAGTTTGATCTTCACTTTTACACCTGTCCCTCAGTGAGAACCGCCCCCTGCAACCAGTCCCTACATCTCCTCTGTCTTCCTCCTTCCCTCTCCTGTCCCTGACTTAGGAGTCCCTGAAGTTAAGGGTCACCTGCAGGTCTCCCGGACCCACTTCGGAACCCTCTGAGTGGAGGATGTCACTCCCCTGAGCCCAGGGCAGGTGTCCGCCCTTGCAAGGGTATCCAGAAACATGAGTGCAGGGACAGCTGTGACTGGACTCCTCCCAGACTGAGACATGTCCTAGGGAGAGCAGGCCACAGGGGCCTCCAAGAGCCTGGGAGCTGCTCTCTGGGAGCCAGGGACAAGCTGGCTTCATGCATTCCTAACTCAGGAAGGAGACTGGAAAGCCCTCATGCAGCCCATAGAGATGTGTCCAAGCTCAGAAAACAATTAGATGTCATCGTGGTTCACTCTCAGAAAGCCTTACTTCTAACTCTAAATTGAAAACTCAGATGAGATGAGAGAAAGAGACGTGGTGGCCAAAATGTGCTTCCTTCTCCAAGAAAGTCAACTGTGGACTTCCATGACTCAGCAGTCCCCTTTAGTTGATCTCATCCAAGGTCGGACTTACGATACCTCTCTTCCCACATGCTTGTCAGAAGCCTACTTTTGTTATAAAGTGGGGCACACATGCAGAGCCCCTTTCAAGTGGCTGGAGGAGCCGGCACGGCGAGCCCAGCCAGTCAGGGCGGACAGCCGTCTAGAGGTGGCAAGGGTTTGGCTCTGGTGCTGTGAGTGGAGTCCATGTGGGTCTGACCTGTGTCCTAGGAACGGCCCCGAAGCCCACCACAGCTGCACCACGGCCTGCCTTTGCACTGCAGTGCCTCGGGGTGTGCTTGTGTTTCTGGGTAGCTCTGGGTCAATGTCCTCCCTCTCACCTGTAGCAACCTTAAGTCCATATCAGAGGTTTCTGGAAAGCTCGTGCTGTGCAAAGCCTCTCTGTTTCTGGGCAGGCGCAGATGGGCCTGTTTCCTGGGTTTGCACTTAACACTCGGCCTGGGCCTCGCTGAGACGAGAGAGCTTAGTGAATGTGCTTGGGGCTGGGTCATGGGGCTCAGGACCCTGCTGAGTGACATCAGCCTGGTCCTGCCCTCCAGTCCACTTCTGGCCCCCAGCATTCCTGCCAACTCTCCTTTTGCAGAGAAGGGAATCCTCATTTGGGATTTCCTCCTTCCTGTGGGAAGGTGACGCTGGATAATTGATGTGGTGACTGTGGGTTCTCCGCACTGGGTGCTCCGAGTGCGGCAAACCAGTGGCCCTAGGCCGCACCTTCTGACCCCTGTTCTCCCCTCCCTTACAG
Seq C2 exon
CTCCTCAGCTCGCAGGCTCAGAGCCTGACACTGCTCACCACTGTGGCCATGCCAGTCTTCAGCAAGAAGAACGAAACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151062:ENST00000382722:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.098 A=NA C2=0.103
Domain overlap (PFAM):
C1:
PF137681=VWA_3=PD(2.4=8.9),PF0274313=Cache_1=PU(12.1=17.8)
A:
NA
C2:
PF0274313=Cache_1=FE(26.6=100)
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:
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