Special

HsaEX0050969 @ hg38

Exon Skipping

Gene
ENSG00000163629 | PTPN13
Description
protein tyrosine phosphatase, non-receptor type 13 [Source:HGNC Symbol;Acc:HGNC:9646]
Coordinates
chr4:86744966-86758349:+
Coord C1 exon
chr4:86744966-86745128
Coord A exon
chr4:86750470-86750887
Coord C2 exon
chr4:86758260-86758349
Length
418 bp
Sequences
Splice sites
3' ss Seq
GCAATCCTATTTCCTTGTAGAGA
3' ss Score
7.03
5' ss Seq
TAAGTAAGA
5' ss Score
5.17
Exon sequences
Seq C1 exon
AAAAAGAAAATCACATTGCAAAATACATCAGATGGAATAAAACATGGCTTCCAGACAGACAACAGTAAGATATGCCAGTACCTGCTGCACCTCTGCTCTTACCAGCATAAGTTCCAGCTACAGATGAGAGCAAGACAGAGCAACCAAGATGCCCAAGATATTG
Seq A exon
AGAGAGCTTCGTTTAGGAGCCTGAATCTCCAAGCAGAGTCTGTTAGAGGATTTAATATGGGACGAGCAATCAGCACTGGCAGTCTGGCCAGCAGCACCCTCAACAAACTTGCTGTTCGACCTTTATCAGTTCAAGCTGAGATTCTGAAGAGGCTATCCTGCTCAGAGCTGTCGCTTTACCAGCCATTGCAAAACAGTTCAAAAGAGAAGAATGACAAAGCTTCATGGGAGGAAAAGCCTAGAGAGATGAGTAAATCATACCATGATCTCAGTCAGGCCTCTCTCTATCCACATCGGAAAAATGTCATTGTTAACATGGAACCCCCACCACAAACCGTTGCAGAGTTGGTGGGAAAACCTTCTCACCAGATGTCAAGATCTGATGCAGAATCTTTGGCAGGAGTGACAAAACTTAATAA
Seq C2 exon
ATGTGCTACACAAAAGATGGAGCATAGTATCTTCACCAGAAAGGGAGATCACCTTAGTGAACCTGAAAAAAGATGCAAAGTATGGCTTGG
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=0.045 A=0.476 C2=0.016
Domain overlap (PFAM):

C1:
PF093805=FERM_C=PD(51.1=83.6)
A:
NO
C2:
PF0059519=PDZ=PU(14.3=38.7)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCACATTGCAAAATACATCAGATGGA
R:
CCAAGCCATACTTTGCATCTTT
Band lengths:
243-661
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