HsaINT0026543 @ hg38
Intron Retention
Gene
ENSG00000067191 | CACNB1
Description
calcium voltage-gated channel auxiliary subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:1401]
Coordinates
chr17:39177984-39183864:-
Coord C1 exon
chr17:39183713-39183864
Coord A exon
chr17:39178080-39183712
Coord C2 exon
chr17:39177984-39178079
Length
5633 bp
Sequences
Splice sites
5' ss Seq
AAGGTGGGT
5' ss Score
8.23
3' ss Seq
TTTCTCTCTCCCCAAACCAGGTA
3' ss Score
9.71
Exon sequences
Seq C1 exon
CTGAGGTGCAGAGTGAAATCGAGCGAATCTTCGAGCTGGCCCGGACCCTTCAGTTGGTCGCTCTGGATGCTGACACCATCAATCACCCAGCCCAGCTGTCCAAGACCTCGCTGGCCCCCATCATTGTTTACATCAAGATCACCTCTCCCAAG
Seq A exon
GTGGGTGCAGGAGCCTGACCCTGGCCAGGACAGCGTGGTTTGAAAGGGCTGCTTGGGTTTAAATCCCAGCTCCACTGCTTACTAATTACGTGAATTAATCTGCCTGAGTCTTAGTTTCCTTCTCTGTAAAGCTCCATCGTATTGTCAAGTGTTTCAACCTCATATGAATGTATAGCACTTAGCAAATGGTCTGATACAACATGTTAGCTATTATTTACTATTATTAGGGTCATGCAGACCAGTCCCCTGTCTCCACTCTGATTGACTTCCCACCCTTGGACTGAAAGAATTCTGTGCTTTTTGTTCCAGTGCCACCCAGCTACTTGGCAGTTGGGAGGTCTTTCCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTTTTTAAGTCAGGATCTCGCTCTGTCACCCAGGCTGGAATGCAGTGATGCAATCATAGTTCACTGCAGCCTCTACCTCCTGGGCTAAAGCAATCCACCCACCTCGGCCTCCCACGTAGCTGGGACTACAGGTGTCCACCACCATGCCTGGCTAATATTTTTATTTTTTAGAGATGGGATTAGCTGTGTTGCCCAGGCTGCTTTCCTCTCTTGATATCAGCCCTTTTTGCTGCAGTGTCCTCATTTGGACTTTGATAGAGGGGAAATCGGTAGGAAGGCCGCCTTACTTTTTCCTTGTATTGCAGCACCATTAACTTTCCCTTCTAGATGCCAGTGGGGATCTGAGAAACACGGAGGAAGAGTTGAGGTGGAGGATTTGAAGTTAGAAGACAGCATGGGCTTGAAATTCAAGCTCTGATTGGTTTACGTATTGATTTATTCTTATTGTTGGTTGTTTTTTATTGAACTTGGAATCTTGGGGGAATTATTTAGCCTCTGATTCTCTATTTCTTCACCTATAAAGTGGGGTTGTAATCCCTCTCGTGTTATTGTTGAGAGGATTGCTGTAAGGAGCCCAGTATACTCTCTGATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTAGACAGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTGGCTGGGACTACAGGAGTGTACCACCACGGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCTACCGCACCCAGCCTACTCTCTGATTTATGAGGGCAGCCAATAGTGGTAACCATTATCATCCCATGAGCTGGGCTCCCTGGACCAGTTACTTAACCTTTTTTTTTTTTGAGACAGCCTTGCCCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCACTCACTACAGCCTCCGCCTCCCAGGTTCAAGTGGTTCTTGTGCCTCAGTCTCCCGAGTAGCTGGGGTTAGGATTACGGGCACACACCACACCTGGCTTTTTTTTTTTTTCTTTTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGTGCGATCTTGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGTGATTCCTCTGCCTCATCCTCCTGAGTAGCTGGGACTACAGGTGCATGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGATTTTACCATGTTGGTCAGGTTGGTCTTGAACTCCTGACCTCGTGATCCACCGGCCTCGGCCTCCCAAAGTTCTAGGATTACAGGTGTGAGCCACTGTGCCCGGCCACACCTGGCTAATTTTTGTATTTTTAGTAGAAACAGGTTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATTTCTCCTGCCTCAGCCTCCCTAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTACTTAACCTTTCTGAGTCCTCTGTTTCTAATGAGATAAAGGGGATGATGGGATTTAAGTACTTCCTGAGGGGAGTTGAAAGGACCAAATGAGATAATGGATGCAAAAACACTGAACTAGAAAGTAACCAATGCTTCCATTTCCCCCACTGAGGTTAAGAGGAGGGACTCTGGAACCAGGCAGCCTGGACCTTCTACTCCAGGGCTGTCACTTACTGGCTCTGTGTTCCTTTGGCAAGCGGCCAAACATCTCTATGCCTTGGTTTCCTCATCTGCAGCATAGGCATACTGGGTTTGTGAAGATTAAATAAATGGGTTAACCATGAAAAATGCTTGGTATTGGGCCAGGCACGGTGGCTCACACCTGTAATCTCAGCACCTTGGGAGCCCGAGGCCGGCGGATTGCCTGAGCTAAAGAGTTCAAGACCAGCCTGGGCAACATGATGAAACCCTGCCTCTACTAAAATTCAAAAAATTAGCTGCGCATGGTGGTGGGCACCTGTAATTCCAGCTACTCAGGAGGCTGAGGCACAAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCATCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAATAAATAAATAAATAAATAAAAATAAACGCTTGGTATCCCAGAACTATATCTGTTCCATTTTGTAAGAAGATTTTCATTTTCAAATAATTTCAGATTTACAGAAGTGTGGCAAGAATAGTATCAAAAAAATCTTATTTTTTGAATATTCTTCACCAGGATTCACTAACTTTTTAACATTTTATTGAGGTAGAATTCCCATACCATTAAGTTCAGCCATTTAAAGTCTATAAGCCAGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGCTCAGGAGTTGGAGACCAGACTGGGCAACATGGCAAGACCCTGTCTCTATTAAAAAATAAAAAATAAATTAAGTGTACAGTCTAATTTTTTTCAGATTCACAAATTTTGAAACATTTACTTTTATCTTTCTTTCTCTCTTTTTTTTTTTGAGGGGGGACGAAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATATTGGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGTATTACAGGCGCCCACCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCCGACCTCAAAAGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCTATATTGTGTTTCTTAAGAACAACATCATTATCTTACACAACCATGATGCAATTGTAAAATTCAAGAATTATTTCTAAAATATAGTCCATATTTGGTTTTTTTTTTTTTTGAGCTAGGGTCTCACTCTGGCTGCCCAGGCTGGAGTGCAGTGATGCGATCTTGGCTGACTGCAGCCTCTGCCTCCCTAGTTCAAGCAGTTCTGCCTCAGCCTCCTGAGTATCTGGGATTACAGGCGCCTGCCACCATACCCAGTTAATTTTTGTATTTTCAGTAGAGACGGGGTTTTGCCATGTTGGCCTGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCACCACCCCTGCCTCCCAAAGTGTAGGGATTACAGGCGTGAGCCACTGTGCCGGTATAGAATGCCCTTCATAGCAACATTTCCCCCAATCCAGGAACCAACCCAGGATCACTTGTTGCCTGTTGTTTTTTAGACAGAGTCTTGTTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATGTCAGCTCACCTCAACCTCTGCCTCCCAAGTTCAAGTGATTTTCATGCCTCAGCCTCGTGAGTAGCTGGGACTACAGGCATGTGCTACCACGCCAAGCTAATTTTTGTATTATTATTATTTTTTAATAAAGACAGGGTTTCACCATGATGGCCAGGCTGGTCTTGAACTCCTGGCCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCTAGTTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCTCAGGTTGGAGTGCAGTGGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGTCTACAGGCACCTGCCACCATGCCCGGCTAATTTTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCGGCCCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGTCCAAGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCTGCCTCCATTCTTCTGCCCCAGCCTCCTGAGTAGCTGAGACTACAGGCGCCTACCACCACATCCGGCTAATGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACTTCAAGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACCGCACCCAGCCAGTATAGTTTTCTTTAATCTGGAAGGCTTCCTCAGCCTTTCTTGAATTTTCCAGAGACTGACATTTAGGCAGAGTACAGGACAGCTATTCTGTAGACTGTCTGTCCCTCAGTGTGCGTTTGTGTGATTGTTCCTCATGATTAGTTTCCGGTTTTGCATTATTATAATTATGGTTCTTGTTGTTGAGATGAGAATGATAATAGCAGCTATCTAACAGGATTGTTGTCAGGACTCAATTGATCATGTGAAAAGCACAGAACAATGCTGGTATGTAGCAAGTGCCCCATAAAGGAAGACTGTTGTTGTTGCCGTTGTTAATATAGAGGGTGTGGCTGGGCTCAGTGACTCACGCCTATAATCCCAGCACTTTGAGAGGCTGAGGCAAGTGGATCACTTGAGGCCAGGAGTTTCAGACCAGCCTGGGCAACATAATAAGACCCTGTTTCTACAAAAAAATTAAAAAAAATTAGTGGGGTATGATGGCACGTGCCTGTAGCCCTAGTTACTGAGGAGGCTAGGCTGGGGGCTCGCTTGAGCCCAGGGTAGAGGTGAACTATGTTCACACCACTGCACTTCAGCCTGGGTGACAGAGCGAGAACCAGTCTCTAAAATTTAAAAAAAAAAAAACAAAAAAAAAGGAGAGTGGGCGGGCCTACAAACAATGTTAGAGAAGTTGAGAAGGAGAATCACTGCCCTTCATATAGCCCCTAAGGAAGGCTGGCATAACACCAGGAGAGAGCCTGAGCTTTGCATAGGGTAGACACAGGGCTGCTGAGGTCCTTTCTGCAGAGGTGCCCAGGGCTGAGAGTTATGGAGCATTCAAGGGTCTTGACACTGGCTCTCCATGCTGATCCAACCAGGACCCGCCTCTCTGACTGGGTGCATTGCCTGAGTCCCTCTAGCTCCTCTTCCTTTTCTCTCTCCCCAAACCAG
Seq C2 exon
GTACTTCAAAGGCTCATCAAGTCCCGAGGAAAGTCTCAGTCCAAACACCTCAATGTCCAAATAGCGGCCTCGGAAAAGCTGGCACAGTGCCCCCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191:ENST00000394303:11
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0062516=Guanylate_kin=FE(27.6=100)
A:
NA
C2:
PF0062516=Guanylate_kin=FE(17.1=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
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