HsaEX6016022 @ hg38
Exon Skipping
Gene
ENSG00000182389 | CACNB4
Description
calcium voltage-gated channel auxiliary subunit beta 4 [Source:HGNC Symbol;Acc:HGNC:1404]
Coordinates
chr2:151872417-151880922:-
Coord C1 exon
chr2:151880800-151880922
Coord A exon
chr2:151876426-151876556
Coord C2 exon
chr2:151872417-151872493
Length
131 bp
Sequences
Splice sites
3' ss Seq
ATTTTATTTCTGAATTCCAGAAA
3' ss Score
7.39
5' ss Seq
AGGGTACGT
5' ss Score
9.15
Exon sequences
Seq C1 exon
TCCAAACCTGTAGCATTTGCCGTGAAGACAAATGTGAGCTACTGCGGCGCCCTGGACGAGGATGTGCCTGTTCCAAGCACAGCTATCTCCTTTGATGCTAAAGACTTTCTACATATTAAAGAG
Seq A exon
AAATATAACAATGATTGGTGGATAGGAAGGCTGGTGAAAGAGGGCTGTGAAATTGGCTTCATTCCAAGTCCACTCAGATTGGAGAACATACGGATCCAGCAAGAACAAAAAAGAGGACGTTTTCACGGAGG
Seq C2 exon
GAAATCAAGTGGAAATTCTTCTTCAAGTCTTGGAGAAATGGTATCTGGGACATTCCGAGCAACTCCCACATCAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182389-'17-69,'17-64,19-69=AN
Average complexity
A_C3
Mappability confidence:
92%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.218 C2=0.847
Domain overlap (PFAM):
C1:
PF120523=VGCC_beta4Aa_N=PD(2.4=2.4),PF0001823=SH3_1=PU(44.2=46.3)
A:
PF0001823=SH3_1=PD(51.2=50.0),PF0062516=Guanylate_kin=PU(8.2=29.5)
C2:
PF0062516=Guanylate_kin=PU(11.7=25.9)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
ENSP00000201943, ENSP00000353425, ENSP00000380490, ENSP00000390161, ENSP00000399242, ENSP00000410978, ENSP00000443893, ENSP00000489621, ENSP00000489677, ENSP00000489679, ENSP00000489697, ENSP00000489732, ENSP00000489772, ENSP00000489779, ENSP00000489788, ENSP00000489818, ENSP00000489876, ENSP00000489881, ENSP00000489883, ENSP00000489912, ENSP00000489943, ENSP00000489967, ENSP00000490124, ENSP00000490127, ENSP00000490138, ENSP00000490144, ENSP00000490145, ENSP00000490176, ENSP00000490247, ENSP00000490250, ENSP00000490252, ENSP00000490276, ENSP00000490337, ENSP00000490430, ENSP00000490443, ENSP00000490488, ENSP00000490501, ENSP00000490510, ENSP00000490572, ENSP00000490603, ENSP00000490607, ENSP00000490651, ENSP00000490660, ENSP00000490787, ENSP00000490795, ENSP00000490891, ENSP00000490910, ENSP00000490918
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCTGTAGCATTTGCCGTGAA
R:
TGTTGATGTGGGAGTTGCTCG
Band lengths:
194-325
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains