HsaINT0026560 @ hg38
Intron Retention
Gene
ENSG00000165995 | CACNB2
Description
calcium voltage-gated channel auxiliary subunit beta 2 [Source:HGNC Symbol;Acc:HGNC:1402]
Coordinates
chr10:18498355-18500948:+
Coord C1 exon
chr10:18498355-18498477
Coord A exon
chr10:18498478-18500811
Coord C2 exon
chr10:18500812-18500948
Length
2334 bp
Sequences
Splice sites
5' ss Seq
GAAGTAAGG
5' ss Score
6.38
3' ss Seq
GCTTTTGATTTTGTGTTTAGAAA
3' ss Score
6.5
Exon sequences
Seq C1 exon
ACAAAGCCCGTTGCATTTGCGGTTCGGACAAATGTCAGCTACAGTGCGGCCCATGAAGATGATGTTCCAGTGCCTGGCATGGCCATCTCATTCGAAGCAAAAGATTTTCTGCATGTTAAGGAA
Seq A exon
GTAAGGAGAATAATTTCATTTTCTAACAGCATGATGTTTCACCTTGACATACCATTTCTTATTTCCTATTCATATGCCGTTTCTGTGAAGTAGCATTGCACATCGCTGCAGTTGTATAACACACATAACTAAATCAATGGCTCTCAACCTCTGCTAATATAAATATACCTTTTAAAGTGGAAAGAAGTCACAGGCCTCTTGCAATAACTTCAGCGCTCCCTGGGGCTCTGTGGCCCAGAAATTGGGAACTGCTAGAGTAGATGATCCTTTTTTATGCTTAACCTATACTTTTTTTTAATGTTTCACCTTGACTAGGTGTAGTTTTTCCTGATGCCTGAAGTCTAGGCATCTGGGGAGGGTTTAATAATAATATCTAGAATTCATGACTCTTCTCTCTGCTGACAGTGTCTCAATACAAACTACTGATGACCTTTTTCCTCCTTAAATGCTAAATTTCTGCAGTGGGTGAGAGAATGGTAAGAATTGACACCAATAAGGCAACAAAGAGGTATCAGGAAAAGTCCTTTTCCTACATGCTAAATGTCTCCACCTTCTAGTGAGCAATGACACAACCTGCAAATTGGAAACTTTCATCCTTAATTAAGGTTTGTTTGGAGTCAACATTTATCAAATGCCTGCCTTGTGGAGCACTGTGTAAACTGACCAGAAATTTCCCCTGTAGAATATTCTCAGTGTGTGATCCTGAGGTTTTTCTTGGACCTGAAGGAATTTATACTTGGAGCTCTTCCATCTAGGGTATATATAATATGTCATAGGAAGTATGTGTAAATCGAAACTCTTCACTGCACTAAAGGCTGTCAGCAAAGGAGTTGATAACTGCCGATTAAAAGAACCTAGGGCTGGGCCCGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAGATGAAGACCATCCTGGCCAACATGGTGAACCCCGTCTCCACTAAAAATACAAAAATTATCTGGGTGTAGTGGCACATGCCTGTAATCTCAGCTACTCGAGAGGCTGAGGCAGAAGAATAGCTTGAACCAGCGAGTCGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACCCGAGCCTGGCGACAGAGTGAGATTCTGTCTCAAAGAAAAAAAAAAAAAAAAAAAAAAGAACCTAGAAGCCTGGGTACTATGGCTCATGCCTGTAATCCAAGCACTAAGAACCTAGAAGCCTGGGTACTATGGCTCATGCTTCCAAGCATTTTGGAAGGCCGAGGAAGGCAGATCTCTTGAGCCCAGGAGACCAGCCTGGGCAACAGGGTAAAACCCCATCTCTAAAAAAAAAAAAAAAAAAAAAATTAACCTGGTGTGGTAGCATACACCGGTAGTCCTAGCTACTCAGGAGGCCAGTGGATTGATTGAGCCTGGAAATTCAAGACAGGAGTGAGCCAGGATCATGTCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGTCTTGATTAAAAATAGAAGAGCCTAGAGAATTTAGAGCCTACCATTTTGGTAACCTCTGAAAAGAGATGTCAAATACTGGCTAGGTGGGAACAATAGAAAAAGTTATCAGCTGTGCCTAGAATCTCACTTTACACCAGGAAGTTAGATTATTATGAGGTCTCTTCTTGATGATTGATGCTGAAAGGGGGATCTTTCCACCATGAAAGGAAAAGAAAAACAGAATGTATATTCTTCTTCGACGTGTTCAAGGACAGATTTATTCAATCGAGGAAAAAGAAGGCAAATCACAAAGATTTAAGATACATATTCCACCTGCAAGACATAAATTGTCAACATCACACAAGTAGAGAAATCATCTGTGAACATCGCATTGTATATTTATAAAACTGTTTGCACAAAGGTAAATTGTCCTGTGACATGAAATATTTAAGGTACACTTCAATATTTATCTCTTTCTCTCAATAATTCCAATTGGTCTGATTATATAAGGGGAAGATTTCTGTAACAGTACTTCCTAAAGATCTCTTGGTAGGATGGGCTGTTATTCTTTGAACCCAGAGAGCTTATCCCTACTCATGGTGACAGCAGCTGCTGCAAGGGAATTCAGCCTGGTCCTACGGCAGCACCAGGACAGACAAGGAACGCAGAGCCTTTGATAGATTGCTGAGGACGCTAAATGCATTTCTTACATGTGAAACCCATGAGCCGAAGGGTTTCTTGAATGATAATATTTAAGGCATAGTTAATGGTCATTGCCATATTTCTCTCGACTGAAAATAGTGTGGAAGAACAAGGATTTGACCTTCTGTGCACTGATTTTTAATGCTTTTGATTTTGTGTTTAG
Seq C2 exon
AAATTTAACAATGACTGGTGGATAGGGCGATTGGTAAAAGAAGGCTGTGAAATCGGATTCATTCCAAGCCCAGTCAAACTAGAAAACATGAGGCTGCAGCATGAACAGAGAGCCAAGCAAGGGAAATTCTACTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165995:ENST00000324631:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.120 A=NA C2=0.366
Domain overlap (PFAM):
C1:
PF120523=VGCC_beta4Aa_N=PD(2.4=2.4),PF0062516=Guanylate_kin=PU(7.8=12.2)
A:
NA
C2:
PF0001823=SH3_1=PD(51.2=47.8)
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