Special

HsaEX0019720 @ hg38

Exon Skipping

Gene
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46458899-46490719:+
Coord C1 exon
chr21:46458899-46459222
Coord A exon
chr21:46484757-46484828
Coord C2 exon
chr21:46490600-46490719
Length
72 bp
Sequences
Splice sites
3' ss Seq
TTTTTCCATTGTTGTTTTAGGTG
3' ss Score
11.78
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
Exon sequences
Seq C1 exon
CCGGCCGGGCGCTCAGGAGCGCGCGGGGCAGCGGCGGCGCGGCGGAGCCATCCGCGCTCGTGCCCGCGCGGGTGCGTTGCTGTCCTGGCCGCGCCCCTGTCCCGCCGCCTCCCGCTCCTCGCCTGGCGGATGTAGGTTGTTGGCCTGAGGGGAGCTACGTAGCCGAGGTTTGCGCTGCCGCCGCCAGGCCCGGTCCGGTTCCAGCCTCTGCCCGGACGCTAGCCGGCCTGGCCATGGCTGACCGCGGGTGCCCGCTGGAGGCGGCGCCGCTGCCTGCCGAGGTGCGGGAGAGCCTGGCTGAGCTGGAGCTGGAGCTGTCGGAAG
Seq A exon
GTGACATCACTCAAAAAGGATATGAAAAGAAAAGGGCAAAGCTGCTTGCACGTTATATACCGCTTATTCAAG
Seq C2 exon
GAATAGACCCATCTCTGCAAGCAGAGAATAGAATTCCTGGGCCCTCACAAACCACGGCCGCTGCACCCAAGCAGCAGAAGTCTCGGCCCACCGCCTCGAGGGATGAGCGCTTCCGGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305-'0-8,'0-5,11-8
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.510 A=0.167 C2=0.911
Domain overlap (PFAM):

C1:
PF064646=DMAP_binding=PU(19.1=71.0),PF051207=GvpG=PU(40.4=67.7)
A:
PF064646=DMAP_binding=FE(20.9=100),PF051207=GvpG=FE(46.2=100)
C2:
PF064646=DMAP_binding=FE(34.8=100),PF051207=GvpG=PD(11.5=14.6)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000400274fB13800


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Primers PCR
Suggestions for RT-PCR validation
F:
GGTCCGGTTCCAGCCTCT
R:
TTGTGAGGGCCCAGGAATTCT
Band lengths:
183-255
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development