Special

HsaEX0049219 @ hg19

Exon Skipping

Gene
Description
POTE ankyrin domain family, member C [Source:HGNC Symbol;Acc:33894]
Coordinates
chr18:14523462-14530552:-
Coord C1 exon
chr18:14530482-14530552
Coord A exon
chr18:14524912-14524982
Coord C2 exon
chr18:14523462-14523506
Length
71 bp
Sequences
Splice sites
3' ss Seq
ATATATGGATTTCTCAACAGAAC
3' ss Score
7.45
5' ss Seq
GAGGCATGG
5' ss Score
1.22
Exon sequences
Seq C1 exon
AATTTGTGAATTACTTTCTGACTATAAAGAAAAACAGATGCTAAAAATCTCTTCTGAAAACAGCAATCCAG
Seq A exon
AACAAGACTTAAAGCTAACATCAGAGGAAGAGTCACAAAGGCTTAAAGTCAGTGAAAATAGCCAGCCAGAG
Seq C2 exon
AAAATGTCTCAAGAACCAGAAATAAATAAGGACTGTGATAGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183206_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.430 A=1.000 C2=1.000
Domain overlap (PFAM):

C1:
PF127962=Ank_2=PD(17.2=64.0)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Conservation
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:
TGCTAAAAATCTCTTCTGAAAACAGC
R:
TCACAGTCCTTATTTATTTCTGGTTC
Band lengths:
71-142
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