HsaEX6006736 @ hg38
Exon Skipping
Gene
ENSG00000160305 | DIP2A
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46554169-46554933:+
Coord C1 exon
chr21:46554169-46554292
Coord A exon
chr21:46554575-46554696
Coord C2 exon
chr21:46554822-46554933
Length
122 bp
Sequences
Splice sites
3' ss Seq
GCCAGTCCTTGTCTCCACAGGGG
3' ss Score
9.66
5' ss Seq
GAGGTGCGC
5' ss Score
7.52
Exon sequences
Seq C1 exon
GGCACCGTCACAAGCACTGCAACCTGTGTCCAGCTGCACAAAAGGGCTGAGAGAGTGGCCGCGGCTCTGATGGAGAAGGGAAGACTGAGTGTTGGGGACCATGTGGCTCTGGTCTACCCACCAG
Seq A exon
GGGTGGACCTCATTGCCGCGTTCTATGGCTGCTTGTACTGTGGCTGCGTGCCTGTCACCGTGCGGCCCCCGCACCCTCAGAACCTCGGCACCACACTGCCCACCGTCAAGATGATCGTGGAG
Seq C2 exon
GTCAGCAAGTCTGCATGCGTCCTCACCACGCAGGCTGTCACACGGCTGCTCAGGTCCAAGGAGGCTGCTGCTGCCGTGGACATCAGGACCTGGCCCACCATCCTAGACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305-'69-67,'69-66,71-67=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.029 C2=0.000
Domain overlap (PFAM):
C1:
PF0050123=AMP-binding=FE(23.2=100)
A:
PF0050123=AMP-binding=FE(22.6=100)
C2:
PF0050123=AMP-binding=FE(20.9=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACCGTCACAAGCACTGCAA
R:
CTGTGTCTAGGATGGTGGGCC
Band lengths:
234-356
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains