HsaEX0050964 @ hg38
Exon Skipping
Gene
ENSG00000163629 | PTPN13
Description
protein tyrosine phosphatase, non-receptor type 13 [Source:HGNC Symbol;Acc:HGNC:9646]
Coordinates
chr4:86767817-86772958:+
Coord C1 exon
chr4:86767817-86767976
Coord A exon
chr4:86769769-86769983
Coord C2 exon
chr4:86772778-86772958
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_MULTIEX3-1/3=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=0.704 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 Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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