Special

HsaEX0004137 @ hg19

Exon Skipping

Gene
Description
ankyrin 2, neuronal [Source:HGNC Symbol;Acc:493]
Coordinates
chr4:114267056-114284625:+
Coord C1 exon
chr4:114267056-114267178
Coord A exon
chr4:114281979-114282053
Coord C2 exon
chr4:114284494-114284625
Length
75 bp
Sequences
Splice sites
3' ss Seq
CTGTTTTTGACCTTCTCCAGATC
3' ss Score
9.78
5' ss Seq
CAGGTAAAA
5' ss Score
8.59
Exon sequences
Seq C1 exon
GTACGCGATACGACTCAGGAACCTTGCGGACGACTATCATTTATGAAGGAGCCAAAATCCACGAGAGGCCTGGTGCATCAAGCTATTTGCAACTTAAACATCACTTTGCCGATTTATACAAAG
Seq A exon
ATCCACAGGATGAGCAGGAACGGATCGAGGAAAGGCTGGCTTATATTGCTGATCACCTTGGCTTCAGCTGGACAG
Seq C2 exon
AATTAGCAAGAGAACTGGATTTCACTGAGGAGCAAATTCATCAAATTCGAATTGAAAATCCCAACTCTCTTCAAGACCAGAGTCATGCACTGTTGAAGTACTGGCTAGAGAGGGATGGGAAACATGCTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000145362_MULTIEX1-4/4=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.117 A=0.398 C2=0.160
Domain overlap (PFAM):

C1:
PF103904=ELL=FE(32.8=100)
A:
PF103904=ELL=FE(20.0=100),PF0053117=Death=PU(30.0=57.7)
C2:
PF103904=ELL=PD(2.4=8.6),PF0053117=Death=FE(68.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCCTGGTGCATCAAGCTATT
R:
TCCCATCCCTCTCTAGCCAGT
Band lengths:
177-252
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