HsaEX1003820 @ hg38
Exon Skipping
Gene
ENSG00000180777 | ANKRD30B
Description
ankyrin repeat domain 30B [Source:HGNC Symbol;Acc:HGNC:24165]
Coordinates
chr18:14769343-14780021:+
Coord C1 exon
chr18:14769343-14769373
Coord A exon
chr18:14772156-14772228
Coord C2 exon
chr18:14779960-14780021
Length
73 bp
Sequences
Splice sites
3' ss Seq
TGTATCATTTTTCTTTAAAGTCT
3' ss Score
6.58
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
Exon sequences
Seq C1 exon
TGGATGTGAGTTCTGTAGAGCCTATATTCAG
Seq A exon
TCTTTTTGGCACACGGACTATTGAAAATTCACAGTGTACAAAAGTTGAGGAAGACTTTAATCTTGCTACCAAG
Seq C2 exon
ATCAGATGTTCCCATCAGAATCCAAACGAGAGGAAGATGAAGAATATTCTTGGGATTCTGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000180777_MULTIEX1-8/17=6-10
Average complexity
C3
Mappability confidence:
80%=100=80%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.114 A=0.000 C2=1.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
ENST00000358984fB9387
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
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:
CCCAGAATCCCAAGAATATTCTTCA
Band lengths:
93-166
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains