HsaINT0026599 @ hg19
Intron Retention
Gene
ENSG00000182389 | CACNB4
Description
calcium channel, voltage-dependent, beta 4 subunit [Source:HGNC Symbol;Acc:1404]
Coordinates
chr2:152717225-152725749:-
Coord C1 exon
chr2:152725691-152725749
Coord A exon
chr2:152717335-152725690
Coord C2 exon
chr2:152717225-152717334
Length
8356 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGA
5' ss Score
7.66
3' ss Seq
TTCTGTGTTCCTATTCATAGGAT
3' ss Score
10.06
Exon sequences
Seq C1 exon
GTAACAGACATGATGCAGAAAGCCCTCTTTGATTTCCTGAAGCACAGGTTTGATGGGAG
Seq A exon
GTGAGAAATATAGATGTTTTTGTATTTTTATTTTCCTTTAACCAAACTTGTGTGATAAATTGAATTGTAGATCTATGTTTCCAGAGATTTCAGAAGTTCTCTAGTTAAAAGTTAACTCAGTATTCTTGGGAAGAATATAATAAAAGAACTCTGAAAATATGAAGTATAACATTGAGTCCCCAGTGAAGAAAGGACCATGAGAAGAAAAATAAGCCATTTGTTTTATTTAAATGTATATATCTTTATTTTCTCAGTTATTAATAATTTCATACCAAAATGTTTTTTATGAAAAAATATTAATTAAAATATATAATATTTCTCATGAGTATAGTGGCTTGCTGGTCAAACTAGGCAGTATTTGGGAATTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCATATGAAAGCATAAATGTCAAGTACTGAATTTCCTCAAAAGAAGAGAGTGAGAATTATTTTAATCATAAGCCTCCCAAAGTGATCATTTTGTAGGGAATAGTACTTATTTGGATATTTATTATAGTTGTGGGTTGTTTTTATTAGAAATGTCCTTGTTATTTTATTGATCTTTTTTTAATGTATTTTACTATGATCCATCAACAATATGGCTCAGGCATTAGCCATTAAATAATTTTATCATTTAAGTTTTGTGAAAAATTCTAAAGAAAGTTTCTCTGTTTTGCAGAGAAATGGTAAAAAGCCTGTATTGACTCAATTCTAAATATTAAGCTCTTTCACAGTGCTGAATGCAGTCCATGTAAAAATAACCACATGAAAAAACCTGAGATTTATCAGAAATGTAGGAAATTTAAATGGGGTGCATCAAAAAGTATGGGCAAATGCATCCAGTTTATTACTGTAGGATTGAAGAAAAACATCACATTCTTTATTTTTGAAGGCAGTAATTAAGCCATTCACTTTCTCTTTGCTAAATTATGAGAATCCACTAAATGCACAAAATAATTTTAAAATGTAAAAAAACTTCAGATAGATTTTAATAAATTGGTATATTAAGAATAAAAACAAGCATGGTATTGCTTTAAATATAAATTGTATGCATTTGTTAAAATAAAAGCTTTCTGGATAATTGGGTAAAATATTCATTAGTTTCTGGAACAATATAGAAAGTTAGTAAACAGATTTTAGTTTAAGAAATAAGAATGCTTCTAGGTACATTAGTATATAGGTCAGGCTGCCTTAATAAATAGACCCCAAAATGTGTAGTGATTCAAACACAATGGAAGCTTATTATTGCTCACTTAACAGTCTGAAGCAGGTGTTCCTTGGCTGGGAGGGAGGATAGAGTTGGGGGAGGGGAGAATTGGGCAGAAAGTTTGTTCCCTCTGTCATTTGGGGCCCTTAGCCCAGGTACGATGTCTCTAGTCAGCTTGCCCGGCCTGGAGGTAGCGCAACTGACATTTCACTGGTTAGAACTTGGTTATGTGGTCATACTTAATTGCAGCGGAGGCACTCTTGCAGTCCAGGAGGAAGAGGAGATAGAATTTGTTGAATCAATAATAGCCTTCGTCACATTCATCTACTGGACAAAGGCTTAATAAGAAAGATGTATTTGTTCCATTTCACTCTCTTTAAAAAAGAAATAGGCAGATAATGAAGTAGCTTCAAAGAAAATAAGTTAAAAGCCCTGAATCCTAGAGCATTGGAGTTGGAAGGATACATAAAATGTCTTTTAGACTCATCATTTCTCCAATAACCACAATCAGATAGACAACCTGCTTCTGTTTGAAACTTTTGGTTATTGGGATTACACTTTCTAAAAAAGCATTGCAAAAAAATAGCTGAACTCTGACTTTGTAACTTAATAGGGCTGGTCTTGGTCTTGCTGTCTGATGCTCTGGCCTTAACCCTAACCCTCATGCAGGTCCCTGTGGATTGAAGGCAGCCAGCATGCCTTGGTCGCACGTGCATAGTTCCTTCAGATATGTATGGAGTCACATGGTTTCAACCTGTGGAGCTGTTACCTAAGGCAGTTCTGAGCAGTGCCGAATCCACTGGCCCCATAACAGCCCTATCTGAACAAATCCCATCCCATAAGACAGTGTTAGATTATTTTGGTCTATAACATACTTATACGCAACAGTGCTGTTAAAGGTTTGCCCTCAAGAATGAAGAATCTGATGTTCTTCCTCAATCCTGAGGCCCAGAAAAAGGGAATTTATTTAATTGTAACAGCAGAGATTTGTCTCGAATCAAGTAGAATTGTCGCATCCATTACTGTACACATACTACTGAAGTTGGTTTTAATAGAAATTGAATGCAAATTTCAATCTCAAGTATTCATGGGGTCTGATGACATGGCAGAGGGTCTGGAGGAAGAGCCCAGCAGTAGCAAAAGTAATAGCTGAAGAGAGAGACTTAGCCCTGGAGAAATCTGATATATTTCTCCAGCAGGAGAAAGATAGGTAGATATTAAAGGGGTGAGGGGTGAGAGAATGGACTTGATTTCAAATATTAAGAGGCCAGGCAGCAGAATGAACAATAAGGAGTTCCTTGGTTGAGTGTATGTGGAGACTTTGATAAGAAAGAAATTCGCTGGTAGCGTCACACTGACTCTGACATGTCTTCTTCGTGGGGAATATCGTTAGGTTTTGAGCTATAACATCATGCTGCATTATGTTTTACCAATTGATACAAGGAGAGAAAAAAACAAATAGTCTTTAATTGAAACCAGCCAAGAGAACAATGACAAGGAAGGCTTTAGCACAGTGACACGGCATAAACAATATGTTCTAATGGAAACCTACTCTGTGTTTCATGGGCTATGAATGCAGTACGTTAGACAAAATAGGAGAAAGTCCTATTATTTTTCAGAAAGTACAAAGAAGGGATCTGTTGGCTACGAGGCTTTCTTCTTTAATCTGCTTTTCAGATCTTAGTAGAAAATAATTCAACAAATTGGATGAAAGTCCAACAGTTTGACTATTGCAGAATCATAAACTTGGGATTTTTTTGATACCTTAGAAATTATTTGAGTCAGTTTAGAGCTACTTATTATACAATTTTATTGCTGTAGCTGCTATTGTGGGGCCTAACTGTAATACATGTAAGAAAAACAGAATACTAGGCTGGGCGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCCAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCTCATCTCTAATAAAAATACAAAATTAGCCAGGCGTGGTGGCGCGTGCCTGTAATTCCAGCCACTCGGGAGGCTGAGGCAGGAAAATCACTTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAATAGGAGCAAAACTCTGTCTCAATAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAAGAAAAACACAATACTAAACAGTTCCTGAGCGCCCTCTGTATTTTTGAATATCTACATGAAGCAATGATTCCTGTGCTGACGACGACACAGTGGATACACAATGGGCATGGAGCTTCTCTCTTCATTTCACACCACAAATATTAATTGGGGATTACCCATTTGGATGAGGTTTGTTCAGCTGGCTGAATCTACCATTCACAGGCTGAACAGCCAGCAGTCAAACCAGTTGCAGTTTGTTGACCTATGCCAATCATTTCAAATCCCCCAAAAAGTTGTTACTTTAGGCTTTTGACAACTGGATCAGATCAACTCTGTGACATTTATTGGACAATTTGTAACTGATAATGATCATGGCCAAAAATCTTAGATGAACATCGTGTAACCTACACAGATAGGATCTCAAGCTAAAGGATGCTTTTAGCCTAAGAACACATAAAGGGAAAAAAAGGGCTTGAGAAAGAATTTGAAAGAAAAGAAGCTAAACATACAACTTAGGGAGACTCAAAGCGATAGTATTTATTAATAAAAAGAAATGGGAACAATTGGTGCTGTCACAAGGCAACCAAGCCATATAAGAATGAAGATAATTTCTAATTGCAGTCAACAAATGGAAAAAGAACAGCAGCAACTTCCGTTTCGTAATCAATTTCATTCTCCTATGCATTCTTCCTACTGTTTTCTATTCAAATGCAGACTCATAAACAGCCACTCAAACACCAGTAATAATTAATTGAACACTTGAGTGTCAAACTTGAATATTTAAATTAGTAGGTTTTGAGTACAGTGTATCTGACCTGATTCTCTCACCCACATTTCACGGACTCTGGGAATGAGAGGGGTCATGGTAGACTGCCCACTTTTGAGAGTAGGACATAAGGAAACTATCTCCTTCGAGTCTTTAAATCTCCAATAATTGTTTGCCTTGTGTACATTATATATGTGTTTATTAACAGAGGACACTATGAATAATTATTTAAGAATGCGCTTTTATATATAACCTTATTTGCTCTTAATGGCAACCCCATGAGATAGTTATGGCAAAGCTACTATTGCCATTTTATTGATTAGGATACTGAGGTCAAAAGATGGAATGACTCATGCAACTACCAAGACAAAGATCCAGGAAGATACTCGGGTCTCCTGTGCCTTTCCATTCTCCTGAAAGTGCACTGTTGCATTCTTCGGAACACTCTTCCCTACTAATACCAGAAGTTTTCAAAAATTATTATACTGTCTGGGCTGCATATTGGATGTAGCAAGGATAGAATATAGACAGATCTTACAGCTGTTACGTTACCAGCGTGGAAATACAAATTATTTTTTGATGAATCTGTCATAACTGAAAGTAATATCTTTCCACAGAAAATCACAGAAAACTAATACAACTCACGATGGATTGCAGCAGTTAGGATGAATTCTAAAGTGGAAATAAGCAACAATTGGGGTTCAGATTTACTATATTTAGGGAATGATGTTTGCTAGTTTTCAGGAACATTCGCTGCTACATCCAGTCTGCTGGGGAACTAAACTCCTATTAGTCTTTTACCTACTGGCCAGCAAGTCACAGAAAGTTTTCCAAGGGAACTTTTTAGAGATGTATACCAAACAAGGTACATGGGAATGCTGAAACTAGGGGGACTAGCTGAGACTAGGGGGTCTCAGCATAGCAAGAAAAGAAGTAGAAAGGATACCACTTTAAGTTAAAAAAAGTATATAAGCTAGATAGTATTCAGTTGTGAATGTGATTGCTTTTCTGGAGAGCCTTTTATAAAAAAGAATTTTGGGTTTGGTGTCTGGTTTTGATAATAATAAGCATCTATGCACAGAAAAGGGAAACTCCTATTTTGTCTTACTGAAGGTTTTCTAGGGCTGTGCATGTCTTCTTCTGAGCTCTGTTTTATGCATGTGTATTTTTATTAATCAATAACTTGTATTAGCAAACTAACTTGTATTAGCAAATAAAATGAGAAAACGTGCCCTTTATTGTCTGCATCTTTCCCTGTATTGGAACACATGAAAAGGTTTTTTTCTGAATTTTTTCAAACTTTGGTCGTGTTTGAAAATAGCTTTGTAAAAGTACTTTTATAACTCAGAAAAAAAAAGTGTGAATCTGATGATAATCCCTTCAGATTTGAAGAACCAAGAGTCTCTTGTTTGTATAGAACTAGAAAATTTTATTTTCACTAAAGGAGACTGGAATTCAACTTTCTGGGTTGTTGGGCCCTCCAAACATCATTAGTCCAAAAATCATTGGTCTAGAAAGTTGAATTCTGTCCCTAAACCCACCGACTTGTCTCTCGTCATATATTTGGATTGCTCTGAAACATGCCTGTATGTTTCTATCCAGCAGCTCCATTCTTAAATAAACCAGAAACCCAAAAACACAAAAATAAACACACATCGCTGAGCATGGTGGCTCACACCTGTAATCCCAGTGCTTTGGAAGGCTGAGGTGGGTAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTCATCTGTAGTAAAAATACAAAAATTAGCCATGTGTGGTGGCACATGCTTGCAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAAACTGGGAGGTGGAGGTTGCAGTGAGTTAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGACTCAAAAAAATTAAATTAAAAAAAAAAAACCACACAAACCCTATTCTGGAGAGGAAAGGAGCTGCCTATGAGACTTCATGCCTGAAAGCTGCAGTGGCCAACTGGAGTAATAGAAAGTCAGGTGTGGGTTTACTCTACCTCAACTTGATTTAAATTCTCACTATCTCAGAGCAAGGCGAAGACTTGACTGTGCATCCATGCTTGACCACTTGACTCATAGCTTGAGATTCGGGCTTGTAGAACACTGAACTGTAAGAGAATGGTGGAGTCAGGTGACTTGGCACTGGCCCGATACCCAGGGGCTAGTTTAGACCTGAGCTGTAACTAACCATGTGCAGCTTTCTGTGTGTGTCTCAGTTTCCCTCTTGGTAAGATGAAAAAGTTGTTACACCAGTGTTTTCCAGTGTCTTTTAGCAGTTGAACAGCTTTTTATAGTGAAATCATATATAAAGCCCCAATGCAGAAAACAGAAATGCAGACATGTTTACCTGGCACTGAGGATAGTGAAGCTGGAGCCCACTGAACCTCCCTTTAGTCCTCAGAACAGTCCCTGAGGTGTATCTGCAAAAACTCTTGGTTTCTGCGGGAGACAATTTTGAAGATGCATCAAATAATGAAAAGGGTCTAACAGTTCTAAAATTTTAAGAATTGAAAACTTCCTGACAACCCACAGCATATAAACATAATGACACAGGCAAGCAGTGCTTTGCTTAAAATGGCACCAGAACTTTTGCACAGACTGTTGTTTTAAAGAATGATTTCCAACCATCTGAGGAAAGGACTATTTTAAATTCTCTCCAAGGCTTTAGGTCACTGAAATCAGGTACAGTCTCCTGACATAGCTGGCAGTGTTGTCCCCAGACAGGTATGAAATGACATATGTTTCAGTAATTGATAATTCTACCCTCCTTCCTGCTTCAATCCCCAAAGAGTTTGAAAACAGAAGAGAATGGGTGTACTAACTGAGTATAAAAGGGGAGGGGTGCTACTTTCCTTGTCTCCTTTCTGGGAACCATGCTGTGAAGATGAGAATGGAGAAAGGCCCATGGTGACAGTAACTGGCCTAAAGAGGCAAGCTTTGAATTCTACTGGTAGATAATTGGAAGTTGAGCAATCTCAGTTTAAAATAGTCTTTAAATTCTAAGTTGCAGATATTCTCATTTGATAAATCATATGCAAATAGATGCCCCTCTGCATTTATTTGCAATGTCTTTGCTTTATTCTTCAGTTTTTTTTTTTTTTTTGAGACAGGGTCTCACCCTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCGGCCTCTGCCCCCTGGGCTCAGATGACCTCCCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGCATGTGCCACTGTGCCTGGCTAGTTTTTGTATTTTAGTAGAGACGGAGGTTCACCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCCATGTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCAGGCCCTGCTTTATTCTTCTCTTGCATGACCGAAGGATACTTTCTAACGTAGAAAATCCTGGCACAATACTCACATTACTTTCAACTAGAGTGCCTTATGACTGCCCACCGTATGCATTCAAAGTCTTATGCAAATATGCTGAAGAATCTTATGCATGCAGAAAAAATAAAACCATTTTTTCACATTCTTATAAATGAAGTATCCCTTTGGGCCTGTGGAGAATCACGTGTGTATCACAAAAGAATGCAGCTTAGCCACAGACTGGTAGATTGTCTTTGATAATCAAAATGAAGAGGGTTTCCCAGCTTTGACTGGCATCATTAAATGCCAGAGCAAAGCATTTGTAGTTCCTGAAGGTCTTGTTCAAGAGCAAATCAACTATGAATTGTGGCAAATTGTATTGCTACTTCCTAGAAAGAGCATGGTTTATTTATATGTCTTGATTCCTTCCTGGTGTGGTGTATATTATAAAGGGAATTCAGCAAGGCAGGCCATAATGGAGGAAGAACATTTTTACTGGAGTAGGTTTTTTTGTGTGTGAAACAGTTTAAACCTTCCTCCATTCTGCTCTGCTTGCATTCTGATACTAGCCAGAGCCTGTTTAAAATACTTGTGGCCAATGTTTGTTATACTGTGGTTCCCCTGTAGCATGTAAATTGGTTATTAAGTACTGTGGTTATAAATCACTTGGAGAGCCCCATAACATTTTTACTGGCTTGTTCTGTTCTGTGTTCCTATTCATAG
Seq C2 exon
GATTTCAATAACGAGAGTGACAGCTGACATTTCTCTTGCTAAGAGGTCTGTCCTAAATAATCCCAGCAAGAGAGCAATAATTGAACGTTCGAACACCCGGTCCAGCTTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182389-CACNB4:NM_000726:9
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.164
Domain overlap (PFAM):
C1:
PF0062516=Guanylate_kin=FE(10.5=100)
A:
NA
C2:
PF0062516=Guanylate_kin=FE(18.2=100)
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
- Genotype-Tissue Expression Project (GTEx)
- 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)