Special

HsaEX0049962 @ hg38

Exon Skipping

Gene
Description
PR/SET domain 5 [Source:HGNC Symbol;Acc:HGNC:9349]
Coordinates
chr4:120811370-120816574:-
Coord C1 exon
chr4:120816453-120816574
Coord A exon
chr4:120812551-120812814
Coord C2 exon
chr4:120811370-120811449
Length
264 bp
Sequences
Splice sites
3' ss Seq
TCTCTTTTAATACTATACAGTAT
3' ss Score
4.97
5' ss Seq
CAGGTATAT
5' ss Score
7.88
Exon sequences
Seq C1 exon
TTTTGAGCAGCACCAGGAGACTTGCCGGGGGGATGCCAGGTTTGTGTGCAAGGCTGACAGCTGTGGAAAGAGGCTGAAGAGCAAGGATGCCCTGAAAAGACACCAGGAAAATGTCCACACTG
Seq A exon
TATTAGTACATGGAAAAGTGAAAGGCCTGTTTTATATATGAGAAAGGTGGTATATGAAGCTGTGAAGATGTCTCAAATTTAAAAAGAAAGCATTTACACAGAATGGGAGAAAATATTTGCAAACTACCCATCTGACAAGTGATTAATAACCAGAATATATAAAGTGCTCAAACAACTCAATAGGAAAAAAATCAAATAATCTAATGAAAACATGAAGAAAATATCTGAATAGACATTTTTCAAAAGAAGACAAATGGCCAACAG
Seq C2 exon
GAGATCCTAAGAAAAAGCTTATATGTTCAGTGTGCAATAAAAAGTGTTCTTCAGCATCAAGCCTACAGGAACATAGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138738_MULTIEX2-8/8=7-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.134 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0009621=zf-C2H2=PD(34.8=19.5),PF0009621=zf-C2H2=WD(100=63.4)
A:
NO
C2:
PF128742=zf-met=PU(87.0=74.1),PF144711=DUF4428=PU(38.0=70.4)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTTGAGCAGCACCAGGAGAC
R:
ATGTTCCTGTAGGCTTGATGCTG
Band lengths:
196-460
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development