HsaINT0026546 @ hg38
Intron Retention
Gene
ENSG00000067191 | CACNB1
Description
calcium voltage-gated channel auxiliary subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:1401]
Coordinates
chr17:39187479-39191593:-
Coord C1 exon
chr17:39191474-39191593
Coord A exon
chr17:39187602-39191473
Coord C2 exon
chr17:39187479-39187601
Length
3872 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGA
5' ss Score
8.68
3' ss Seq
CCCCTGTGTGCCTCCTCTAGACC
3' ss Score
9.99
Exon sequences
Seq C1 exon
GGCTCAGCGGAGTCCTACACCAGCCGTCCATCAGACTCTGATGTATCTCTGGAGGAGGACCGGGAAGCCTTAAGGAAGGAAGCAGAGCGCCAGGCATTAGCGCAGCTCGAGAAGGCCAAG
Seq A exon
GTGAGAAAGATGTGGGGAGGGGCTGTGCTGGCATGATTTCCCCCAGTCCTGGGCTGTAGAGAGAGCCCAGACAGAACCAGGGCCAAGTCTTGACCCAGCCACTTCCTAGTACCCCTGAACCTTGCTCCTCTGTCCTTCACCTGCACAATGTGGGCTATAATACCTGCCTGCTTATACAGTATAATAAGTATAATAAGTGCGTGTTATTATACTGTTTCCACACATAATAAGGGCTTGATAAGTGCTAAAAATTTCTTTTTTTTGTTTTTTGAGTTGCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTATAGGCTCTGGCTGCCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGACCTGGTCCTGACTCTTAATAGCTGTGTGATCTTAGGAAAGTCACATTAAAAGGAAGATAATAATACCACTTAACTTCAGAGGATTTTTTATTTTTGTGATGAATATAAATGAGAGAATATGTGTTAAGTGTGTAACATGGTACCTGGAACACTAAATGGTCATTACTGTCATTATTGTTTTTTTTAATTTAATTTTAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCGGTTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTTGGGCAATGTGGTGAAACCCCGTCTCTACTAAAAATACAAAACGTAGCTGGGTGTGGTGGTGTACGCCTGTAATCCCAATTACTCGGGAGGCTGAGGCACCAGAATCGCTTGAACTAAGGAGGCGGAGGCTGGAGTGAGCTGAGATCGCACCACTGCACTCCGGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAACATAATAATAAATAAATTTAAATATTTATTATTTTTTATGAGACAGGGTCTCTCTCTGTCACTCAGGCTGAGTGTAGCGGCGTGATCACAGCTCACTGGAGCCTTGACCTCCCATCTCAGCCTCCCGAGTACCTGGAACTATAGAGGCATACCACCACACCTGGCTGATTTTTTATTTTTTGTAGAGATGGGATCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGGGCCACTGTGCCCAGCCCCTTTTATTTATTTATTTATTTTTGAGATGGAGTCTTGCACTGCCGCCCAGGCTGGGGTACAGTGGTGCGATCTCGGCTCACTGCAGCCTCCGCCTTCCAGGTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAGAACTCCTGACCTGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTAAGCCACTGTGCCCAGCTGCCCCTTTTATTTTTTAAAAACCGACAGGGCTGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCGGGCATTTGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTAGCCAGGTGTGATGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCAAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCACCATGGGCAACAAGAGCGAAACTCCATCTCAAAACAAAACAAAACAAAACAGACAGGATCTCCCTATATTGCTCAGGCTGGTCTCAGACTCCTTCCCTCAAGCCAGTATTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTGCTATTATTATTATTATTATTATTTTATTTTATTTTATTTTGAGACGGAGTCTTGCTCCATCACCCAAGCTGGAGTGCAATGGCACGATCTTGGCTTGCTGCAACCTCTGCCTCCTAGATTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACTTCATGATCCACCCACCTTAGCCTTTCAAAGTGCTGGGATTACAGGCATGAGCCATTGCGCCCGGCCTATAACTATTATTTAATTAATTTATTTTGTTTTGTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCGGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTGCAACCTCCACCTCCCAGATTCAAGTGTTTCTCCTGCCTCAGCCTCCCAAGTAGCCAAGATTACAGGCATGTGCCACCACACCATGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTAGTCATGGCTGGTCTCGAACTTTTGACCTCAAGTGATCCACCTGCCTTGCCCTCCCAAAGTGCTGGGATTACAGCAGTGAGCCACCGTGCCCGGCCTGCTATTATTATTATTTTTTCTGGGTATCATTGTGGGCTTCCCCACCCCCAACCCTTTTCATTCCTGAGTGCCCCGCCTCTACCCTGAGAGGGCTGAATTCCACATTTTGCTTTCTTGTTTTTTATTGTAAAAGTTAATATACATGGAGAAAACCACACAAGCCAATTCAGTATACATTTTTTTTTTTTGACGGAGTCTCACTCTGTCATCCATGCTGGAGTATAGTGGCATGATCTCGGCTCACTGCAACTCTGCTGCCCTGGTTGAAGTAATTCTCCTGCCTCAGCCTTCCAAGTAACTGGGATTACAGGCATCTGCCACTGCGCCCAGCTAATTTTTGTATTTTTAGTAGCGACAGGGTTTCACCATCTTGGCTAGGCTGGTCTTGAACTCCTGACCTCATGAATCCACCTGCCTCTGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACGCCCAGACTTTTTTTTTTTTAGACAGAGTCTTGCTCCGTCATCCAGGCTGGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACTTCTGCCTCCTGAATTCAAATGATTCTCATGCCTCAGCCCCCTGAGTAGCTGGGATTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGGCAGAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACGATCCACCTGCCTTGGCCTCCCAAAGTGTCAGTATACATTTTGTTGTTGTTGTTGTTGTTTTGAAATGGAGTCTTGCCCTGTTGCCCAGGCTTGAGTGCAGTGACACAATCTTGGCTCACTGCAACCTCCACCTTCCAGGTTCAAGCAACTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCACCCACCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTTCAGGCTGGTCTCGGACTCCTGACCTCAGATGATCCACGTACCTTGGCCTCCCAACGTGCTGGAAATACAGGTGTGAGCCACCACACCCTGCCCATGTCCATACACATTTCAAGGAACTATTATAAAGTAAACATCCAAGTAACCACCACTACTGTCAGGAAGTTGTACATTACATTGTGGTTTGCCCTCTAGTTGCCATCCTCCCCTGTGTGCCTCCTCTAG
Seq C2 exon
ACCAAGCCAGTGGCATTTGCTGTGCGGACAAATGTTGGCTACAATCCGTCTCCAGGGGATGAGGTGCCTGTGCAGGGAGTGGCCATCACCTTCGAGCCCAAAGACTTCCTGCACATCAAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191:ENST00000394303:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.917 A=NA C2=0.484
Domain overlap (PFAM):
C1:
PF120523=VGCC_beta4Aa_N=PU(92.9=97.5)
A:
NA
C2:
PF120523=VGCC_beta4Aa_N=PD(2.4=2.4),PF0001823=SH3_1=PU(44.2=46.3)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
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