Special

HsaEX6006746 @ hg38

Exon Skipping

Gene
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46532127-46534113:+
Coord C1 exon
chr21:46532127-46532237
Coord A exon
chr21:46533524-46533647
Coord C2 exon
chr21:46534004-46534113
Length
124 bp
Sequences
Splice sites
3' ss Seq
GGTCACTCTGCTTTCTGCAGGAT
3' ss Score
7.96
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
Exon sequences
Seq C1 exon
GTGGCGCTCGTGTTTCCGAATAGTGACCCTGTGATGTTCATGGTTGCATTTTATGGGTGTCTCCTGGCAGAGCTGGTTCCTGTCCCCATAGAAGTGCCATTAACAAGAAAG
Seq A exon
GATGCAGGCAGCCAGCAGGTTGGGTTTCTGCTGGGCAGCTGTGGAGTCTTCTTGGCCCTGACCACAGACGCTTGTCAGAAAGGCCTCCCCAAGGCACAGACAGGAGAGGTGGCAGCTTTCAAAG
Seq C2 exon
GTTGGCCCCCGCTCTCCTGGCTAGTGATTGATGGGAAGCATCTAGCCAAGCCCCCAAAGGACTGGCACCCTCTGGCCCAGGACACAGGGACTGGGACTGCCTACATTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305-'28-32,'28-30,29-32
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=0.108
Domain overlap (PFAM):

C1:
PF0050123=AMP-binding=FE(7.5=100)
A:
PF0050123=AMP-binding=FE(8.6=100)
C2:
PF0050123=AMP-binding=FE(7.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCGCTCGTGTTTCCGAATAGT
R:
CTCAATGTAGGCAGTCCCAGT
Band lengths:
218-342
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains