Special

HsaEX1011607 @ hg38

Exon Skipping

Gene
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46463066-46484828:+
Coord C1 exon
chr21:46463066-46463228
Coord A exon
chr21:46465001-46465036
Coord C2 exon
chr21:46484757-46484828
Length
36 bp
Sequences
Splice sites
3' ss Seq
ACCAATATTTGTTGTTTCAGGAA
3' ss Score
9.34
5' ss Seq
ATGGTGAGG
5' ss Score
7.61
Exon sequences
Seq C1 exon
GAGTCTGCTTCAGATTAAGATGAAGATGAAGAGTAGAAGTACATGGAACCCCACTCTTCTTAGACCCCCTGCCCCCCAATCATGAACACATACAGAAGAATTCATATGTGTGGTTCCTGAAAACCTATCAGGATGTTCATTGATGGAAGTGAGATCATTAGAG
Seq A exon
GAAAGCAGAATTTCCTTTGAATGATGGATAAGAATG
Seq C2 exon
GTGACATCACTCAAAAAGGATATGAAAAGAAAAGGGCAAAGCTGCTTGCACGTTATATACCGCTTATTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305_MULTIEX3-3/4=1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

5' UTR

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.167
Domain overlap (PFAM):

C1:
PF064646=DMAP_binding=PD(8.0=25.0)
A:
PF064646=DMAP_binding=PD(4.2=14.3)
C2:
PF064646=DMAP_binding=FE(20.9=100),PF051207=GvpG=FE(46.2=100)


Main Inclusion Isoform:
ENST00000400274fB13801


Main Skipping Isoform:
ENST00000400274fB2079


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
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:
GGTTCCTGAAAACCTATCAGGATGT
R:
AGCGGTATATAACGTGCAAGCA
Band lengths:
116-152
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains