HsaEX1003819 @ hg38
Exon Skipping
Gene
ENSG00000180777 | ANKRD30B
Description
ankyrin repeat domain 30B [Source:HGNC Symbol;Acc:HGNC:24165]
Coordinates
chr18:14769343-14772228:+
Coord C1 exon
chr18:14769343-14769373
Coord A exon
chr18:14769680-14769717
Coord C2 exon
chr18:14772156-14772228
Length
38 bp
Sequences
Splice sites
3' ss Seq
TCCCTTCTCTTCTCCCTCAGCAT
3' ss Score
9.86
5' ss Seq
AAGGTACAG
5' ss Score
8.04
Exon sequences
Seq C1 exon
TGGATGTGAGTTCTGTAGAGCCTATATTCAG
Seq A exon
CATAGATTGATGGAGACCTCTGCATCACTGAGATCAAG
Seq C2 exon
TCTTTTTGGCACACGGACTATTGAAAATTCACAGTGTACAAAAGTTGAGGAAGACTTTAATCTTGCTACCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000180777_MULTIEX1-7/17=6-8
Average complexity
C2
Mappability confidence:
82%=100=82%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.114 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000358984fB9387
Other Inclusion Isoforms:
NA
Associated events
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:
TGGATGTGAGTTCTGTAGAGCCT
R:
CTTGGTAGCAAGATTAAAGTCTTCCT
Band lengths:
104-142
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains