Special

HsaEX0004121 @ hg38

Exon Skipping

Gene
Description
ankyrin 2 [Source:HGNC Symbol;Acc:HGNC:493]
Coordinates
chr4:112904455-113174517:+
Coord C1 exon
chr4:112904455-112904514
Coord A exon
chr4:113151080-113151124
Coord C2 exon
chr4:113174416-113174517
Length
45 bp
Sequences
Splice sites
3' ss Seq
TGGGAATTTTCCCACTACAGGTG
3' ss Score
6.94
5' ss Seq
AAGGTGATG
5' ss Score
5.22
Exon sequences
Seq C1 exon
GTAAGTAATGAAAAGAGACATGAAGAATTGGTATTTCAAATGACCACCATGTTGCAAAAG
Seq A exon
GTGACATGCCCCCAGATGAAACCAGAGGCCGCCAACATTGAAAAG
Seq C2 exon
TCTGACAGCAATGCAAGCTTCCTCCGTGCTGCCAGAGCAGGCAACCTGGACAAAGTTGTGGAATATCTGAAGGGGGGCATAGACATCAATACCTGCAATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000145362_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

Show structural model
Features
Disorder rate (Iupred):
  C1=0.429 A=1.000 C2=0.079
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF127962=Ank_2=PU(29.0=79.4)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm9)
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:
AGAATTGGTATTTCAAATGACCACCA
R:
GCAGGTATTGATGTCTATGCCCC
Band lengths:
133-178
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development