HsaEX6088162 @ hg38
Exon Skipping
Gene
ENSG00000148513 | ANKRD30A
Description
ankyrin repeat domain 30A [Source:HGNC Symbol;Acc:HGNC:17234]
Coordinates
chr10:37130205-37134053:+
Coord C1 exon
chr10:37130205-37130378
Coord A exon
chr10:37132240-37132346
Coord C2 exon
chr10:37133916-37134053
Length
107 bp
Sequences
Splice sites
3' ss Seq
ATTGTTTTGCTATTTTACAGGCT
3' ss Score
8.55
5' ss Seq
ATGGTATAG
5' ss Score
2.86
Exon sequences
Seq C1 exon
GCTCTACAATGCCATCAGGAGGCTTGTGCAAATATTCTGATAGATTCTGGTGCCGATATAAATCTCGTAGATGTGTATGGCAACACGGCTCTCCATTATGCTGTTTATAGTGAGATTTTGTCAGTGGTGGCAAAACTGCTGTCCCATGGTGCAGTCATCGAAGTGCACAACAAG
Seq A exon
GCTAGCCTCACACCACTTTTACTATCCATAACGAAAAGAAGTGAGCAAATTGTGGAATTTTTGCTGATAAAAAATGCAAATGCGAATGCAGTTAATAAGTATAAATG
Seq C2 exon
CACAGCCCTCATGCTTGCTGTATGTCATGGATCATCAGAGATAGTTGGCATGCTTCTTCAGCAAAATGTTGACGTCTTTGCTGCAGATATATGTGGAGTAACTGCAGAACATTATGCTGTTACTTGTGGATTTCATCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148513_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF127962=Ank_2=PD(60.2=96.6),PF127962=Ank_2=PU(8.3=10.3)
A:
PF127962=Ank_2=PU(30.9=83.3)
C2:
PF127962=Ank_2=PD(40.3=61.7)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
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:
AATGCCATCAGGAGGCTTGTG
R:
TCTGCAGCAAAGACGTCAACA
Band lengths:
254-361
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains