Special

HsaEX0004123 @ hg38

Exon Skipping

Gene
Description
ankyrin 2 [Source:HGNC Symbol;Acc:HGNC:493]
Coordinates
chr4:113258050-113264995:+
Coord C1 exon
chr4:113258050-113258148
Coord A exon
chr4:113258313-113258411
Coord C2 exon
chr4:113264897-113264995
Length
99 bp
Sequences
Splice sites
3' ss Seq
GCTGTTGCTTTGTTTCGCAGTCT
3' ss Score
7.78
5' ss Seq
ATTGTGAGT
5' ss Score
7.35
Exon sequences
Seq C1 exon
AATGGTTTTACTCCACTGCACATTGCCTGCAAGAAAAACCGCATCAAAGTCATGGAACTGCTGGTGAAATATGGGGCTTCAATCCAAGCTATAACAGAG
Seq A exon
TCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATT
Seq C2 exon
CGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000145362_MULTIEX1-3/3=2-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF127962=Ank_2=PD(33.3=93.9),PF127962=Ank_2=PU(10.8=24.2)
A:
PF127962=Ank_2=FE(45.7=100)
C2:
PF127962=Ank_2=PD(44.3=93.9),PF127962=Ank_2=PU(8.3=18.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATTGCCTGCAAGAAAAACCGC
R:
CTGGCTCTGGCATCAACAAGG
Band lengths:
176-275
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development