Special

HsaEX6080547 @ hg38

Exon Skipping

Gene
Description
ankyrin 1 [Source:HGNC Symbol;Acc:HGNC:492]
Coordinates
chr8:41688156-41690346:-
Coord C1 exon
chr8:41690227-41690346
Coord A exon
chr8:41688511-41688589
Coord C2 exon
chr8:41688156-41688230
Length
79 bp
Sequences
Splice sites
3' ss Seq
CACCCTTTCTTCTTCTGCAGGGA
3' ss Score
12.13
5' ss Seq
CAGGTACGG
5' ss Score
10.88
Exon sequences
Seq C1 exon
GTGAGGGACAGCAGTCGAGAGCCGGGAGGGTCCCTGTCGTTTCTGCGCAAGGCGATGAAGTACGAGGACACCCAGCACATTCTCTGCCACCTGAACATCACCATGCCCCCCTGCGCCAAG
Seq A exon
GGAAGTGGAGCCGAAGATAGGAGAAGGACCCCGACGCCCCTGGCCCTGCGATACAGCATTCTCAGTGAGTCCACACCAG
Seq C2 exon
GTTCTCTCAGTGGGACAGAGCAGGCAGAGATGAAGATGGCTGTTATCTCAGAGCACCTCGGTCTCAGCTGGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000029534-'49-76,'49-66,57-76=AN
Average complexity
A_C3
Mappability confidence:
96%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.134 A=0.377 C2=0.413
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0053117=Death=PU(19.0=61.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATTCCACTACACTGCAGCCTG
R:
ACGATGAGAGCTCCAAGGTGA
Band lengths:
180-259
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains