Special

HsaEX0049961 @ hg38

Exon Skipping

Gene
Description
PR/SET domain 5 [Source:HGNC Symbol;Acc:HGNC:9349]
Coordinates
chr4:120811370-120818527:-
Coord C1 exon
chr4:120818353-120818527
Coord A exon
chr4:120816453-120816574
Coord C2 exon
chr4:120811370-120811449
Length
122 bp
Sequences
Splice sites
3' ss Seq
CTTTGCTGGTTGTCTTGTAGTTT
3' ss Score
8.04
5' ss Seq
CTGGTGAGG
5' ss Score
8.3
Exon sequences
Seq C1 exon
ATCGCCTTGGCTGTAAAGAGGACTATGCTTGTCCTCAATGTGAATCGAGTTTTACCAGTGAGGATATTCTTGCTGAGCATCTCCAGACATTGCACCAGAAACCCACAGAGGAGAAAGAATTTAAGTGCAAGAACTGTGGGAAGAAATTCCCAGTTAAGCAGGCTTTGCAAAGACA
Seq A exon
TTTTGAGCAGCACCAGGAGACTTGCCGGGGGGATGCCAGGTTTGTGTGCAAGGCTGACAGCTGTGGAAAGAGGCTGAAGAGCAAGGATGCCCTGAAAAGACACCAGGAAAATGTCCACACTG
Seq C2 exon
GAGATCCTAAGAAAAAGCTTATATGTTCAGTGTGCAATAAAAAGTGTTCTTCAGCATCAAGCCTACAGGAACATAGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138738_MULTIEX2-7/8=4-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.077 A=0.134 C2=0.000
Domain overlap (PFAM):

C1:
PF138941=zf-C2H2_4=WD(100=40.7),PF0009621=zf-C2H2=PU(78.3=30.5)
A:
PF0009621=zf-C2H2=PD(34.8=19.5),PF0009621=zf-C2H2=WD(100=63.4)
C2:
PF128742=zf-met=PU(87.0=74.1),PF144711=DUF4428=PU(38.0=70.4)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000264808fB23337


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGCCTTGGCTGTAAAGAGGAC
R:
TGTTCCTGTAGGCTTGATGCTG
Band lengths:
246-368
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