HsaEX0004469 @ hg38
Exon Skipping
Gene
ENSG00000167612 | ANKRD33
Description
ankyrin repeat domain 33 [Source:HGNC Symbol;Acc:HGNC:13788]
Coordinates
chr12:51888568-51889482:+
Coord C1 exon
chr12:51888568-51888818
Coord A exon
chr12:51889071-51889196
Coord C2 exon
chr12:51889372-51889482
Length
126 bp
Sequences
Splice sites
3' ss Seq
GCTGCCCCTCCCTCAGACAGGCC
3' ss Score
3.84
5' ss Seq
CAGGTGTGA
5' ss Score
5.29
Exon sequences
Seq C1 exon
ATGCCAGCTGCATGAGAAAAGGGACTCACCTTCTGGTTCCCTGCCTGGAAGAGGAAGAGCTGGCATTGCACAGGAGACGGCTGGACATGTCTGAGGCACTGCCCTGCCCGGGCAAGGAGACCCCCACCCCAGGCTGCAGGCTGGGGGCCCTGTATTGGGCCTGTGTCCACAATGATCCCACCCAGCTCCAAGCCATACTGGATGGTGGGGTCTCCCCAGAGGAGGCCACCCAGGTGGACAGCAATGGGAGG
Seq A exon
GCCTCATGGTCGCATGCTACCACGGCTTCCAGAGTGTTGTGGCCCTGCTCAGCCACTGTCCTTTCCTTGATGTGAACCAGCAGGACAAAGGAGGGGACACGGCCCTCATGTTGGCTGCCCAAGCAG
Seq C2 exon
GCCACGTGCCTCTAGTGAGTCTCCTGCTCAACTACTATGTGGGCCTGGACCTGGAACGCCGGGACCAGCGGGGGCTCACGGCGTTAATGAAGGCTGCCATGCGGAACCGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167612-'1-4,'1-3,2-4
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.163 A=0.008 C2=0.000
Domain overlap (PFAM):
C1:
PF127962=Ank_2=PU(33.3=39.3)
A:
PF127962=Ank_2=PU(64.5=97.6)
C2:
PF127962=Ank_2=PD(33.9=43.8),PF127962=Ank_2=PU(44.7=70.8)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGAGGAAGAGCTGGCATTGC
R:
GGTCCAGGCCCACATAGTAGT
Band lengths:
254-380
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