Special

HsaEX6086004 @ hg38

Exon Skipping

Gene
Description
PR/SET domain 5 [Source:HGNC Symbol;Acc:HGNC:9349]
Coordinates
chr4:120777188-120785091:-
Coord C1 exon
chr4:120784998-120785091
Coord A exon
chr4:120781143-120781303
Coord C2 exon
chr4:120777188-120777281
Length
161 bp
Sequences
Splice sites
3' ss Seq
TGTTTCTCTTTGTTTCTAAGGTG
3' ss Score
9.76
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
Exon sequences
Seq C1 exon
ACCCACTCTGAGGAGAGACCGTTCCAATGTGAAGAATGTAAAGCTTTGTTCCGGACCCCATTTTCTTTACAGAGACACCTGCTAATACATAACA
Seq A exon
GTGAGAGGACTTTCAAGTGCCATCACTGCGATGCTACCTTTAAGAGGAAGGATACATTAAATGTTCATGTCCAGGTGGTTCATGAAAGACACAAGAAGTATAGGTGTGAGCTATGTAATAAGGCCTTTGTTACACCTTCAGTGCTTAGAAGTCATAAGAAA
Seq C2 exon
ACACATACAGGAGAAAAGGAGAAAATCTGTCCATATTGTGGCCAGAAATTTGCCAGCAGTGGTACACTCAGAGTTCATATCCGGAGCCACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138738_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.077 C2=0.054
Domain overlap (PFAM):

C1:
PF121713=zf-C2H2_jaz=PD(8.0=6.2),PF134651=zf-H2C2_2=PU(38.5=31.2)
A:
PF134651=zf-H2C2_2=PD(57.7=27.8),PF134651=zf-H2C2_2=WD(100=50.0),PF134651=zf-H2C2_2=PU(23.1=11.1)
C2:
PF134651=zf-H2C2_2=PD(69.2=56.2),PF134651=zf-H2C2_2=PU(38.5=31.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


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:
TCTGAGGAGAGACCGTTCCAA
R:
TGTGTGGCTCCGGATATGAAC
Band lengths:
181-342
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains