HsaINT1006207 @ hg38
Intron Retention
Gene
ENSG00000067191 | CACNB1
Description
calcium voltage-gated channel auxiliary subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:1401]
Coordinates
chr17:39173456-39177535:-
Coord C1 exon
chr17:39177350-39177535
Coord A exon
chr17:39175658-39177349
Coord C2 exon
chr17:39173456-39175657
Length
1692 bp
Sequences
Splice sites
5' ss Seq
CAGGTACAG
5' ss Score
8.68
3' ss Seq
GCTGTCCGTCTGCTAACCAGGGA
3' ss Score
6.05
Exon sequences
Seq C1 exon
GAAATGTTTGACATCATCCTGGATGAGAACCAATTGGAGGATGCCTGCGAGCATCTGGCGGAGTACTTGGAAGCCTATTGGAAGGCCACACACCCGCCCAGCAGCACGCCACCCAATCCGCTGCTGAACCGCACCATGGCTACCGCAGCCCTGGCTGCCAGCCCTGCCCCTGTCTCCAACCTCCAG
Seq A exon
GTACAGGTGCTCACCTCGCTCAGGAGAAACCTCGGCTTCTGGGGCGGGCTGGAGTCCTCACAGCGGGGCAGTGTGGTGCCCCAGGAGCAGGAACATGCCATGTAGTGGGCGCCCTGCCCGTCTTCCCTCCTGCTCTGGGGTCGGAACTGGAGTGCAGGGAACATGGAGGAGGAAGGGAAGAGCTTTATTTTGTAAAAAAATAAGATGAGCGGCAGCTTCTGGTGTCTGTGGTTTTTGATGGGTCTGGGGCTTCTGGTGCTGTCTTCCTGGGCCTGGTGCCATAGGAGCGCATCTGCTGCCCGCTGGATATGAGGCCTGATGGGAGCGCTTTTAAGACAAGGGACTAGGAAGGACATGCGAGGAAGACTGATAAACTGATTCGCTGGACTCCACACCCTTTTTAGACCCAACAGAGCAGGGGCCTTCAGAGCCAGGGAAACCTACGTTAAACCTGGACTCTCCCTCCCTGGAGCCCTGACTCCACAAGGCCCCTCAAGAGGGACCAAGAATGTGGCATCTTCTATGACTTGATGCTGAACCTTCCACCATTCTCCCAGTTAAAGTCCAGGAAAGGACCTCCCATGGGAGACCCATCCTGCCTTGCCCTCCTCCCATGGGAGCCACAGCCCACCTCTTGATGGCACACCATTAAGTATAAGGTCTTAAGAGCCAGAAGAAACCCATGAAATCATTCTAGACTGTAGCTTTCAAATTTGTTTTCAGCAACAGAGCCCATTTGTTCAATGAATCTTACGTGGAAGCTGAGGATGTTAGATAATGCATCCTTGCTCTGCCCTGAGGGAGCCAGGGGAATGGCCTCCCCTCCACCTCCATGGGGACCCCTGAAGCACTTCTGTGCCCTTCCCACCCAATGCCACCCCAGATCTCTAGGTAACAGTTTGGAAACTGCTACTCAGGTCTAACCCCCATCACATTACAACCAAGAAATGAGGCCACAGAGAGGGGAACTGTTTGCTTAGGGTCACACAGCTTGACATGGCAGGGGAGGGACTGGAACCCCTCTTGTGCCCCACCTCCACGTGACATTTGATGATAAGGACACTGGGCCACCTCTTCATCTTCAGTAGGAGGGGGAGACCCAGCAGCCTTCCCCAGCTTGCTGCTTTGAGTGCTTGTTGGGGGCAAGGGAGGAATCCCATCAGCCTTGGAGATGGTGTCATCCGACTAGGGAATGGTGGGAGAAGCATGGGGTTCTGGAAGCCTGAGATTGGGGTTTGGTGTGGGTCGAAGAAGCCAGGGTCAGCAGGTTTGAGCTGAAATCCCGTTAATATATTTGGAAAACCAAAGGCAATGACTAACCGAATCAACCGCTAATGAGTGGCAATACTGAGCTGTTAATGACAGTTAGCCCCAAGATAGCATTAATGACCTGCACTGAGGAAGCGGTGACTCATGGCTCACGGCTGTTGGCCATAGTTGCCCTGAGAGTTCATATGTCCTCACATCTGTTGAAGGTCGGGTGCCCCCTGTCCCGAGAGAGGAGCAAATGCCCTGAGGTCTGTCCTCTGGCTGGGCTCCAGAGCCGTTTGTCCCCGGGGCCCCTCCTCTAGAGCCAGCACCCTCTTCATCCAGGCCGGACCTCTTAATGCTGTCACTAACTTGCCTTGCTTTGTTGTGTTTTTCTCACCCCTGCCTGATCTGCATGGTGTGTGCTGTCCGTCTGCTAACCAG
Seq C2 exon
GGACCCTACCTTGCTTCCGGGGACCAGCCACTGGAACGGGCCACCGGGGAGCACGCCAGCATGCACGAGTACCCAGGGGAGCTGGGCCAGCCCCCAGGCCTTTACCCCAGCAGCCACCCACCAGGCCGGGCAGGCACGCTACGGGCACTGTCCCGCCAAGACACTTTTGATGCCGACACCCCCGGCAGCCGAAACTCTGCCTACACGGAGCTGGGAGACTCATGTGTGGACATGGAGACTGACCCCTCAGAGGGGCCAGGGCTTGGAGACCCTGCAGGGGGCGGCACGCCCCCAGCCCGACAGGGATCCTGGGAGGACGAGGAAGAAGACTATGAGGAAGAGCTGACCGACAACCGGAACCGGGGCCGGAATAAGGCCCGCTACTGCGCTGAGGGTGGGGGTCCAGTTTTGGGGCGCAACAAGAATGAGCTGGAGGGCTGGGGACGAGGCGTCTACATTCGCTGAGAGGCAGGGGCCACACGGCGGGAGGAAGGGCTCTGAGCCCAGGGGAGGGGAGGGAGCGAGGGGCTCACACCTGACATGTATTCGCCTCCAGGGGGCGCTGTCTCCCTCCTTTCAGATGCCTTTGCTCAAAGCTTGGGGTTTCTTTGGTGTTACCATCCCAGCTCCCGGGAGGCCCTTAAGCCCCAGCTGTCGGTTTTTACCTGCCTGTTGTGGATGGATGGGGGATACCCACCTTTCTGAAGTGTCCCCTTTCTCCCATCTTAAGGGGCTCTCCTCCCTCACCCTCCTAGAGAAAAGGTGCACTTCCTTAACTCTTTCTACTCGGGGCCCTAAGTGACGGTCCTAAGTGGGATGGCTCTCCTTCTCCCAAGCTGCAGTACTGGGGAAGGGCTGGGCGCTTTTCCTGGAAAGGGAGGCCACAGATTCTTTCCCATGGGGGCTCTCTTCCCCAGACCCCAGATCCAAGGTCCCTCACCCTGCCTGCCCCTTCCTCCCAGCTTCCTGGCAGCATCGTCTGGTCGGTGAAAGCCATAGCATGGACACCCCATGGGGAGCTTGTCTTGGGGAGGGTTCTGGGTGGAAGCTGGCAGGCATACAGCACCCTCTACCCTCCGTGGCCATGGCAACGTCCAGGGCCCAGAACCCTGAGGAGTGAGCGGCCGAGACGCTGCTCCCCACCCCCCACCTCCATGCCTCAGCCTTTGCCTACCCCAGGAATGAGCTTGGCCTCCAACATCCCTTGCCTGCTGCCATTAGTAGAGGGGGCCCCTCTGCATCTGAGCCCCCCATCCCTGTGCCACCTGGGTGTGGAGCCCATGGAACACTCTGGTCCGCCTCATTTTAAACCAAAAAACTGCTCCTTCACCCTCACCCTGAGGCCCCAGGGGAGAGGACCCGTGGGATGGTGCCCAGGGGTTGCCTTGGGACCTCGGATCTCCTCTGGGGGGCTTGGCTGCTGCTGTTGCTGCTCTGTATTTGCCTCTCGTGATTCTGTTTGTTACCCATGTTCACTTCCCCCAGGAGAGGCCTTGGTACCCCCTCTCCCCTGGGGCATCCCTTTGCCTTGGCATCCCTGTAGCCCAGCAACCCTGCCCCTCCCCAGCATCCCAGCTGGGCCAGAGAGAGCCGAGTGTGCCAACAAGGACTGGGGCCTGCCCGGCTGCCCGCCTCAGGGATGGGCACCTCATGCCTGTCTCGCCACCTCCTGTGCCAATGTCCCACCCTCCACCTGGGGGTGGGGTGCAGCTTCCACTTACTGATTAGAAGACACCACTGCCCTCCCTTCCCCCCTCCCTGTCTGGTGTCCTGTGCCCCCATCTGTCTGTCTATATTTGTCTGTACTCCCCTAGGAGAAGTATTTTGCCATATATAAAACCACTGTCCTGTCCTTTGTGGCTGCCTCCCAAGCCTGCTTCTTTGTCCTCGCCACATAGTCGTCAGCGTAGGCACCTGGGAGCTGCTGATATGCACGGGGAGTTGAAAGGGTGGGTGCCTGAAGATGTTGTGCCCTGAGTCATTGACTCAAAAGAAAAGATGATCCTTTGATTTTGGCCCTCTGATGTATTGTGCCCAAGCCAGGAGCTGCTTGGGCAGTCCCAGCTCCACACTGGCCCTGAGCCCCTTCACTTACCTGTCTCTCCACAAGTAGAGCCAAAGGCAATGGGAAGCTCAATGTTGCTCAGTGGGTGAGATCCAGACCCACTGGTGCAATGTCTTAAATACACATGACTGTTTTTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191:ENST00000394303:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.415 A=NA C2=0.948
Domain overlap (PFAM):
C1:
PF0062516=Guanylate_kin=PD(13.8=40.3)
A:
NA
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTATTGGAAGGCCACACACCC
R:
TGTCCACACATGAGTCTCCCA
Band lengths:
344-2036
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains