Special

HsaEX0049958 @ hg38

Exon Skipping

Gene
Description
PR/SET domain 5 [Source:HGNC Symbol;Acc:HGNC:9349]
Coordinates
chr4:120818353-120853540:-
Coord C1 exon
chr4:120853418-120853540
Coord A exon
chr4:120821171-120821345
Coord C2 exon
chr4:120818353-120818527
Length
175 bp
Sequences
Splice sites
3' ss Seq
TTTAAAAAAATTTGTTTCAGGAA
3' ss Score
7.24
5' ss Seq
AAGGTATTG
5' ss Score
7.76
Exon sequences
Seq C1 exon
GTTCGTGGGAGTAAGGGAGAAGTTTTGTACATTTTGGATGCTACCAACCCACGGCACTCCAACTGGCTTCGCTTCGTTCATGAGGCACCATCTCAGGAGCAGAAGAACTTGGCTGCCATTCAA
Seq A exon
GAAGGAGAAAACATTTTCTATTTGGCAGTTGAAGATATAGAAACAGACACGGAGCTTCTGATTGGCTACCTGGATAGTGACATGGAGGCTGAGGAGGAAGAACAGCAAATTATGACAGTCATCAAAGAAGGGGAAGTTGAAAATTCTAGAAGACAATCAACAGCGGGCAGAAAAG
Seq C2 exon
ATCGCCTTGGCTGTAAAGAGGACTATGCTTGTCCTCAATGTGAATCGAGTTTTACCAGTGAGGATATTCTTGCTGAGCATCTCCAGACATTGCACCAGAAACCCACAGAGGAGAAAGAATTTAAGTGCAAGAACTGTGGGAAGAAATTCCCAGTTAAGCAGGCTTTGCAAAGACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138738_MULTIEX2-3/8=1-4
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.189 A=0.464 C2=0.077
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF138941=zf-C2H2_4=WD(100=40.7),PF0009621=zf-C2H2=PU(78.3=30.5)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


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:
TTGGATGCTACCAACCCACGG
R:
CAAAGCCTGCTTAACTGGGAA
Band lengths:
257-432
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