HsaEX0050973 @ 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
chr4:87614740-87637778:+
Coord C1 exon
chr4:87614740-87614827
Coord A exon
chr4:87622394-87622954
Coord C2 exon
chr4:87637683-87637778
Length
561 bp
Sequences
Splice sites
3' ss Seq
ATAGATTCTTATCATTCCAGGAA
3' ss Score
5.73
5' ss Seq
AAGGTTAGT
5' ss Score
8.54
Exon sequences
Seq C1 exon
ACAGATCAGCTTTCCTGTAACAGTGAACAAAAGCCTGATCGAAGCCAGGCTATTCGAGATCGATTGCGAGGAAAAGGATTACCAACAG
Seq A exon
GAAGAAGCTCTACTTCTGATGTACTAGACATACAAAAGCCTCCACTCTCTCATCAGACCTTTCTTAACAAAGGGCTTAGTAAATCTATGGGATTTCTGTCCATCAAAGATACACAAGATGAGAATTATTTCAAGGACATTTTATCAGATAATTCTGGACGTGAAGATTCTGAAAATACATTCTCCCCTTACCAGTTCAAAACTAGTGGCCCAGAAAAAAAACCCATCCCTGGCATTGATGTGCTTTCTAAGAAGAAGATCTGGGCTTCATCCATGGACTTGCTTTGTACAGCTGACAGAGACTTCTCTTCAGGAGAGACTGCCACATATCGTCGTTGTCACCCTGAGGCAGTAACAGTGCGGACTTCAACTACTCCTAGAAAAAAGGAGGCAAGATACTCAGATGGAAGTATAGCCTTGGATATCTTTGGCCCTCAGAAAATGGATCCAATATATCACACTCGAGAATTGCCCACCTCCTCAGCAATATCAAGTGCTTTGGACCGAATCCGAGAGAGACAAAAGAAACTTCAGGTTCTGAGGGAAGCCATGAATGTAGAAG
Seq C2 exon
AACCAGTTCGAAGATACAAAACTTATCATGGTGATGTCTTTAGTACCTCCAGTGAAAGTCCATCTATTATTTCCTCTGAATCAGATTTCAGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163629_MULTIEX4-2/2=1-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.833 A=0.410 C2=0.576
Domain overlap (PFAM):
C1:
NO
A:
NO
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 1 annotated functions for this event
PMID: 12529439
Here the authors show that PTP-BL is involved in the regulation of cytokinesis. The authors demonstrate localization of endogenous PTP-BL at the centrosomes during inter- and metaphase and at the spindle midzone during anaphase. Finally PTP-BL is concentrated at the midbody in cytokinesis. The authors show that PTP-BL is targeted to the midbody and centrosome by a specific splicing variant of the N-terminus characterized by an insertion of 182 amino acids (HsaEX0050973). Additionally, the splice variant with the insert leads to multinucleated cells when overexpressed in HeLas.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)