HsaINT0026594 @ hg19
Intron Retention
Gene
ENSG00000182389 | CACNB4
Description
calcium channel, voltage-dependent, beta 4 subunit [Source:HGNC Symbol;Acc:1404]
Coordinates
chr2:152732940-152737436:-
Coord C1 exon
chr2:152737314-152737436
Coord A exon
chr2:152733071-152737313
Coord C2 exon
chr2:152732940-152733070
Length
4243 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAAT
5' ss Score
8.39
3' ss Seq
ATTTTATTTCTGAATTCCAGAAA
3' ss Score
7.39
Exon sequences
Seq C1 exon
TCCAAACCTGTAGCATTTGCCGTGAAGACAAATGTGAGCTACTGCGGCGCCCTGGACGAGGATGTGCCTGTTCCAAGCACAGCTATCTCCTTTGATGCTAAAGACTTTCTACATATTAAAGAG
Seq A exon
GTAAATGTAGAACATACTGCATCCCTTCACCTGCCAAAAAGCTGAAGCCAGGAATCAGCTCTGAGCCAAACTAGCCAGAGAGGAGACCCAAGGAGCTGCCAGTGCAGTACATGATTTAATTTGCTGAGCCTCCCAAATCTAGTCATTCTCATTAAGATTGAGAAGTCTGAGATCATTGCTTGCATTATCACACACTGACAACATTAAATCACAGTCAACCTTAAAATTATAGCATAGATTTCTGACAGACCTCTATGGTCCTCTGGGCACCTTTAAATCCCCTTCTGTGACTGCAGAGCCATAAATATATGGATCCAACTTTGGAAAATGTAAGTTTGGTGTCATGGCACCTACCCAGAAGGGACTGTTTACAGGGGATGTTGTAATTATAGACATGTAGACTATAGTGCTGTGCACCTTGACTATGGAACCAACACTAGAGTGTATAATCATTCAAAGAAAGATTTACAGCTAAGAAAAGGGCAGAGGGCTCTGGGAAACAGAAAGGCAAAAGGGTAAAGTGTTTGAGTAGCCAAGAAGGGTGGGATCCAAGACCCCTAGTGGAGGGACAGACCTTTGATAGAAAGAAGAATGCTAATTCATTGTGACATGCAGGGAAAAGATGAGTGCAGGCACAGACACTTCAGGGCCTTGGGAATAGGAAACTGAGGACCCATCAACTTCAACCATGGCCTCTACTTTCTTGATGGTATATGAGGTGAGGATGTCTACATTTGTCTAGAAGACAAGAACTCTTGACCTGAAACATGTGCCCTGGCATCTGAATGGTTAAGTTGATTATGTCTCACCATTTCCATCAAAAATGCCCAAGCCATATTCATTAGTTGCTAATACCCACTGTGTCCAAGGAGAAGCACCACTTGAAAAGGTAAGAGATGTTCTTACATGTGACATGCACACTCACTCACACCAACATTCCAACCTTGTATTTGATTGCTTTCCTGCATTGTATCAAGGTCTCAATTTGTCCTGGCTGCTGTTTGAGCTATGTGCTTGTTGATCAGTGATTTTCTCTTCAGTCTGGCAGTTTGATGTGACATTGAGCTGGTAATCTTATGTGGACCAGAGCCTCTTGTTTTCATGTCTTGAAATTATCAGATAAGAAAACATCTTTGATATAGAAAGTGCTAATCATTTTAGGGAAATCCAAATAGAGAAGGGTTGGAACAACACCGAGGTGACCTCTGTAGAGAGCTGGCACAAGTTCCCAGAACATCAACACAAATGAATACATTTCTATAATCAAGTTATAGCCTTCCCTCTCATCCATCACTTAGAAGGCCATCTATTATGCACCATGTTAAGTAGTTTCTCAATAATAAAAAAAAAAAAGCTTAAATGCAGAGAAAAGCTACAACTATGCTTGTCACATAAGCCAAATGATGATCAAATTAAGCTCTTGATTTTACATAGTGACTTTCTCCCTAGTAACTCAAAAAATTCATTCCTCCTGAGTCAGATTCTCACTGTGCTTTCGCTGTTTCCTAGAACTAAGTTAAAACATTTTGGGAAGTTGAATTAACCATTTCAGCAAGCCCTTTAAAGTCATTTGGGTGCCATTTAACAAATGAGTGTTCCAGTGGGCTATGCCACTTCATTTCAGGAAGTAACTTAAGCCCTAGGAAACTATGACTCATGGTCTGTTTTGTCCTCAACACAGTAAAATTTAAATTCCAGACCTATGCACCCAAGATTCTAAAAGGGTCCCTTTGCCCTTTGTTAATTCCAAAATAAACAGACCTATTATTTTAGGCCTGTTATACTAAAAGACAGGAAAGTGGGGAAAAACAACTAAGACCTAGATTGTTCAAGGTTTTATATCAGGTCAATTCACATTTTTTTCTTTTCTTTTCTTTTTTATTTTTTTGGAGACAGGTTCTCGCTCTGTTTTCCAGGCTGGAGTGCAGTGATGCAATCACAGCTCACTGCTGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGTGCACTACTACACCCAGCTAATTGTGTAGTCTAGTATAGTGCACTACACTAGCTAATTGTGTAGTACACTAGGTAATTAGTAGTACACTACTATACTAGCTAATTGTGTAGTACACTACACTAATTGTATAGCTAGCTAATGGTGTAGTATTGTGTAGTACACTAGGACTACAGGTGCACTACTATACCCAGCTAACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGACAGGGTCTTGCTATGTTACCCTGGCTGATTTCAAACTCCTGGCCTCAACTGATCCTCTTACCTCAGACTCCAAAAGTGCTGGGATTACAGGAATGTGCCACCATGGCCAGCCCTCAATTTACATTTATTTCAATGCAATCTCATACTTTATGCCACTCATATAGTATGCATGGAGAAGCTGTGTGCATAACAAAGGCCAAATTCTTACCAGAACATATTTCTCATGAGTGTGAAGCTGTTACTCAGAATAATTTAAAGTTTACCCAGAACTTCATGGTGTGATTATTCAATGAAACCTTCCATTCCTCCTTCATAATGTATCAGAATCATATATATATATATACACACACAGACATATATATAAATTTCGCTTTTCTATGAGCTCAGCAAAATATACTACATATCATTGTTACATTTTGAAAAAAGTATATGTTTATAAATATATATATTTTGGGTCAAAATAGGAGAGAATTATCTTGCCCAACACTGATAAAAACAGTAAAGGAAGTTTTTAGAATCATCTCCAGAGAGTTTAAACAATAGAGCTGGTATCTATTTTGTAGAAGTGACCTAGCTGAAACCTTTCCTTGAGGCAGGGAGCTTGAACTAAATTGCTTTCTGCTGTATAATTCAGCAAATGTATAATTAGAAATGCAATTTTGCCAATCCACCAAATAAGCCCACATTGACAGACTCTCACCCCACACTGGTTGAAGCCTTCTCATAGACTTGAGTTTGCTTGTCATGGAACTTAACTTAAATGGAAATTCTGGAGTTCCTCTTGGGCTTCAGAGCATTTGGAAGTTATTTGCAAAATTTCACATACAAATATATAATACGCTCAGACTTTGTAAGTGTAGGCATCTTTTTCTTCAAGTAGTAAGATGGACCTTAATTTGCAAATCTATATTTGAAAGATCATGACTCTTCCCCAGTGAGATTAGACCACAGATAGTATCGTGGAATTTTTAACTGAAAGCTTTTGACAAATTATGGACTATTAAATGTATTTCATCTCAGACATATCTGTCTTGCCTTCCAGAGTTCCAGTTACATTGGTGCATATTTATCCTTATAAAATATGTTCTTTAAGAATTGGTTAGAGCTTCTTGACAAAGACCAAAAGAATCCAAAGGTTAGGACCAGACATTAGTCCAGGGATTCACAAACTATAGCCCACAGGTCCAGTCTGACCCACTCTCTTTTTTGTAAAGAAAAGTTTTATTGAAACACAGCCATGCTCACTTGTTGATGTTTGTCTGTGGCTGCTTTCACACAAGGACAGCAGATTCAACTAATTGTAACAGAGACCACGTGGTCTGCAAAGCCTGAAATATTTACTACTTGGACCTTTACAGAAAAAGTTTGCAGAACCCTGCTTTAGTCTATGCATCTACCTCAGATATATATATATATAGTATGTATATATAGATATATATGTATATATAGATATCTATGTGTATATATAGATATCTATGTGTATATATAGCTATCTATGTGTATATATAGATCTATATATGCACACATACATATACAATATACTTTATATTAATATATAGTATAGGTATATATACACATATATACATACACAATATAGTTTATATAAATATAGTATATATAGATATATACATATATACATATACAATATAGTTTATATAAAATGTATAGTATAATATAGTATAGATATATAGATATATACACATATACAATATAGTTTATATAAAATGTATAGTATAATATAGTTTATATAAAATATAGTATATAGTATAGTATATAAAATATAGTATACACACATATACATATAAAATATAGTCTATAGTATAGTATATAAAATATAGTATACACACATATACATATAAAATATAGTTTATATAAAATATAGCATATCATATCATATAAATAGCATTTTATTCTTCTTGTCCCCTAAGATTAATAAACAACGTGAAGATAAGTGAATTACTATTGATAGCAATTTTATTTCTGAATTCCAG
Seq C2 exon
AAATATAACAATGATTGGTGGATAGGAAGGCTGGTGAAAGAGGGCTGTGAAATTGGCTTCATTCCAAGTCCACTCAGATTGGAGAACATACGGATCCAGCAAGAACAAAAAAGAGGACGTTTTCACGGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182389-CACNB4:NM_000726:4
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.222
Domain overlap (PFAM):
C1:
PF120523=VGCC_beta4Aa_N=PD(2.4=2.4),PF0073614=EF1_GNE=PD(47.8=80.5),PF144761=Chloroplast_duf=FE(50.0=100),PF0001823=SH3_1=PU(44.2=46.3)
A:
NA
C2:
PF0001823=SH3_1=PD(51.2=50.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
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
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)