Special

HsaEX0050964 @ hg19

Exon Skipping

Gene
ENSG00000163629 | PTPN13
Description
protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) [Source:HGNC Symbol;Acc:9646]
Coordinates
chr4:87688970-87694111:+
Coord C1 exon
chr4:87688970-87689129
Coord A exon
chr4:87690922-87691136
Coord C2 exon
chr4:87693931-87694111
Length
215 bp
Sequences
Splice sites
3' ss Seq
TTTTATATCTTTTTCTCCAGAAA
3' ss Score
10.14
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GTGGTTCATCTGTTATTAGAAAAGGGACAATCTCCAACATCTAAAGAACATGTCCCGGTAACCCCACAGTGTACCCTTTCAGATCAGAATGCCCAAGGTCAAGGCCCAGAAAAAGTGAAGAAAACAACTCAGGTCAAAGACTACAGCTTTGTCACTGAAG
Seq A exon
AAAATACATTTGAGGTAAAATTATTTAAAAATAGCTCAGGTCTAGGATTCAGTTTTTCTCGAGAAGATAATCTTATACCGGAGCAAATTAATGCCAGCATAGTAAGGGTTAAAAAGCTCTTTCCTGGACAGCCAGCAGCAGAAAGTGGAAAAATTGATGTAGGAGATGTTATCTTGAAAGTGAATGGAGCCTCTTTGAAAGGACTATCTCAGCAG
Seq C2 exon
TAATCCTTCCCCTCTACCACCGGATATGGCTCCTGGGCAGAGTTATCAACCCCAATCAGAATCTGCTTCCTCTAGTTCGATGGATAAGTATCATATACATCACATTTCTGAACCAACTAGACAAGAAAACTGGACACCTTTGAAAAATGACTTGGAAAATCACCTTGAAGACTTTGAACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163629_MULTIEX1-1/3=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.694 A=0.028 C2=0.852
Domain overlap (PFAM):

C1:
PF0059519=PDZ=PD(7.2=11.1)
A:
PF0059519=PDZ=PU(78.8=93.1)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


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:
AGAACATGTCCCGGTAACCCC
R:
TCAAAGTCTTCAAGGTGATTTTCCA
Band lengths:
293-508
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