HsaEX0012068 @ hg38
Exon Skipping
Gene
ENSG00000182389 | CACNB4
Description
calcium voltage-gated channel auxiliary subunit beta 4 [Source:HGNC Symbol;Acc:HGNC:1404]
Coordinates
chr2:151832768-151842088:-
Coord C1 exon
chr2:151841903-151842088
Coord A exon
chr2:151841668-151841739
Coord C2 exon
chr2:151832768-151839379
Length
72 bp
Sequences
Splice sites
3' ss Seq
CTAATTATGATCTATCCTAGAGA
3' ss Score
4.77
5' ss Seq
TAGGTAAAT
5' ss Score
6.62
Exon sequences
Seq C1 exon
GAAATGTTTGATGTTATATTGGATGAAAATCAGCTTGAGGATGCATGTGAACATCTAGGGGAGTACCTGGAGGCGTACTGGCGTGCCACCCACACAACCAGTAGCACACCCATGACCCCGCTGCTGGGAAGGAATTTGGGCTCCACGGCACTCTCACCATATCCCACAGCAATTTCTGGGTTACAG
Seq A exon
AGAAAACTACCCAGAGACTGACAATTTCCTGAGAATTATGCTGTCTGTGAATTTACAGTGGATTTTACTTAG
Seq C2 exon
AGTCAGCGAATGAGGCACAGCAACCACTCCACAGAGAACTCTCCAATTGAAAGACGAAGTCTAATGACCTCTGATGAAAATTATCACAATGAAAGGGCTCGGAAGAGTAGGAACCGCTTGTCTTCCAGTTCTCAGCATAGCCGAGATCATTACCCTCTTGTGGAAGAAGATTACCCTGACTCATACCAGGACACTTACAAACCCCATAGGAACCGAGGATCACCTGGGGGATATAGCCATGACTCCCGACATAGGCTTTGAGTCTAATGAAACAAAAAATATTCATCTGTTGACAATTTGCCATAGCAGTGCTAGGATAAACCAATCATCTTAACTTGGCTAACATAGCACAGTATTTACTGTGCTAATGGGCTGCTGTCATTTTATGCTAAGTAAGGGGCAAAAAAAAAAATTACATTATGCCCTTGAGTCTAGATGGATATTAGATGCCCGATCATATAGATATTTTTAAGTGCAACATTTACATGATAACAGTACAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182389-'41-90,'41-88,42-90=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.386 A=0.333 C2=0.998
Domain overlap (PFAM):
C1:
PF0062516=Guanylate_kin=PD(15.0=40.3)
A:
NO
C2:
NO
Other Skipping Isoforms:
ENSP00000353425, ENSP00000380490, ENSP00000390161, ENSP00000410978, ENSP00000443893, ENSP00000489621, ENSP00000489677, ENSP00000489679, ENSP00000489732, ENSP00000489779, ENSP00000489787, ENSP00000489788, ENSP00000489876, ENSP00000489883, ENSP00000490124, ENSP00000490176, ENSP00000490247, ENSP00000490250, ENSP00000490304, ENSP00000490488, ENSP00000490660
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGGAAGGAATTTGGGCTCC
R:
GTTCCTACTCTTCCGAGCCCT
Band lengths:
177-249
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