HsaEX6088162 @ hg19
Exon Skipping
Gene
ENSG00000148513 | ANKRD30A
Description
ankyrin repeat domain 30A [Source:HGNC Symbol;Acc:17234]
Coordinates
chr10:37419133-37422981:+
Coord C1 exon
chr10:37419133-37419306
Coord A exon
chr10:37421168-37421274
Coord C2 exon
chr10:37422844-37422981
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-'2-3,'2-2,3-3=AN
Average complexity
A_C2
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
Rat
(rn6)
No conservation detected
Chicken
(galGal3)
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)