HsaINT0026599 @ hg38
Intron Retention
Gene
ENSG00000182389 | CACNB4
Description
calcium voltage-gated channel auxiliary subunit beta 4 [Source:HGNC Symbol;Acc:HGNC:1404]
Coordinates
chr2:151860711-151869235:-
Coord C1 exon
chr2:151869177-151869235
Coord A exon
chr2:151860821-151869176
Coord C2 exon
chr2:151860711-151860820
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:ENST00000539935:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.039 A=NA C2=0.179
Domain overlap (PFAM):
C1:
PF0062516=Guanylate_kin=FE(15.2=100)
A:
NA
C2:
PF0062516=Guanylate_kin=PU(13.9=93.3)
Other Skipping Isoforms:
ENSP00000201943, ENSP00000353425, ENSP00000380490, ENSP00000390161, ENSP00000410978, ENSP00000443893, ENSP00000489621, ENSP00000489677, ENSP00000489679, ENSP00000489779, ENSP00000489787, ENSP00000489818, ENSP00000489876, ENSP00000489915, ENSP00000489967, ENSP00000490144, ENSP00000490145, ENSP00000490247, ENSP00000490250, ENSP00000490276, ENSP00000490304, ENSP00000490430, ENSP00000490443, ENSP00000490607, ENSP00000490910
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