Special

HsaEX0049955 @ hg38

Exon Skipping

Gene
Description
PR/SET domain 5 [Source:HGNC Symbol;Acc:HGNC:9349]
Coordinates
chr4:120784998-120799745:-
Coord C1 exon
chr4:120799661-120799745
Coord A exon
chr4:120798267-120798424
Coord C2 exon
chr4:120784998-120785091
Length
158 bp
Sequences
Splice sites
3' ss Seq
TCCACTCATTTTTTTAATAGAAA
3' ss Score
6.95
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
Exon sequences
Seq C1 exon
ATTCATGAGATATTTGATTGTCAAGAATGTATGAAGAAATTTATTTCAGCTAATCAGCTAAAACGTCATATGATCACCCACTCAG
Seq A exon
AAAAACGACCCTATAATTGCGAGATTTGTAATAAGTCTTTCAAGAGGCTTGATCAAGTGGGTGCTCACAAAGTAATACACAGCGAAGACAAACCTTACAAATGCAAACTTTGTGGAAAGGGATTTGCCCACAGAAATGTTTACAAGAATCATAAGAAG
Seq C2 exon
ACCCACTCTGAGGAGAGACCGTTCCAATGTGAAGAATGTAAAGCTTTGTTCCGGACCCCATTTTCTTTACAGAGACACCTGCTAATACATAACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138738_CASSETTE2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.034 A=0.038 C2=0.000
Domain overlap (PFAM):

C1:
PF128742=zf-met=PD(4.3=3.4),PF144711=DUF4428=FE(56.0=100),PF134651=zf-H2C2_2=PU(38.5=34.5)
A:
PF144711=DUF4428=PD(2.0=1.9),PF134651=zf-H2C2_2=PD(57.7=28.3),PF121713=zf-C2H2_jaz=PU(84.0=39.6)
C2:
PF121713=zf-C2H2_jaz=PD(8.0=6.2),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
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTAATCAGCTAAAACGTCATATGA
R:
TGTTATGTATTAGCAGGTGTCTCTGT
Band lengths:
131-289
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