Special

HsaEX0050972 @ hg38

Exon Skipping

Gene
ENSG00000163629 | PTPN13
Description
protein tyrosine phosphatase, non-receptor type 13 [Source:HGNC Symbol;Acc:HGNC:9646]
Coordinates
chr4:86689005-86701801:+
Coord C1 exon
chr4:86689005-86689190
Coord A exon
chr4:86693587-86693674
Coord C2 exon
chr4:86701241-86701801
Length
88 bp
Sequences
Splice sites
3' ss Seq
TTTTTATTACCTGTGTACAGACA
3' ss Score
6.27
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
CCTATTAAGCTTGGAGATCATCTCAACAGCATACTGCTTGGAATGTGTGAGGATGTTATTTACGCTCGAGTTTCTGTTCGGACTGTGCTGGATGCTTGCAGTGCCCACATTAGGAATAGCAATTGTGCACCCTCATTTTCCTACGTGAAACACTTGGTAAAACTGGTTCTGGGAAATCTTTCTGGG
Seq A exon
ACAGATCAGCTTTCCTGTAACAGTGAACAAAAGCCTGATCGAAGCCAGGCTATTCGAGATCGATTGCGAGGAAAAGGATTACCAACAG
Seq C2 exon
GAAGAAGCTCTACTTCTGATGTACTAGACATACAAAAGCCTCCACTCTCTCATCAGACCTTTCTTAACAAAGGGCTTAGTAAATCTATGGGATTTCTGTCCATCAAAGATACACAAGATGAGAATTATTTCAAGGACATTTTATCAGATAATTCTGGACGTGAAGATTCTGAAAATACATTCTCCCCTTACCAGTTCAAAACTAGTGGCCCAGAAAAAAAACCCATCCCTGGCATTGATGTGCTTTCTAAGAAGAAGATCTGGGCTTCATCCATGGACTTGCTTTGTACAGCTGACAGAGACTTCTCTTCAGGAGAGACTGCCACATATCGTCGTTGTCACCCTGAGGCAGTAACAGTGCGGACTTCAACTACTCCTAGAAAAAAGGAGGCAAGATACTCAGATGGAAGTATAGCCTTGGATATCTTTGGCCCTCAGAAAATGGATCCAATATATCACACTCGAGAATTGCCCACCTCCTCAGCAATATCAAGTGCTTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163629_MULTIEX2-1/2=C1-2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.833 C2=0.410
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


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:
TTTCTGTTCGGACTGTGCTGG
R:
GTCTGATGAGAGAGTGGAGGCT
Band lengths:
174-262
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