Special

HsaEX0049960 @ hg38

Exon Skipping

Gene
Description
PR/SET domain 5 [Source:HGNC Symbol;Acc:HGNC:9349]
Coordinates
chr4:120816453-120818527:-
Coord C1 exon
chr4:120818353-120818527
Coord A exon
chr4:120816832-120816924
Coord C2 exon
chr4:120816453-120816574
Length
93 bp
Sequences
Splice sites
3' ss Seq
TTTTTCCTATTTCCCTTTAGTGT
3' ss Score
10.89
5' ss Seq
GAGGTTTTG
5' ss Score
-0.23
Exon sequences
Seq C1 exon
ATCGCCTTGGCTGTAAAGAGGACTATGCTTGTCCTCAATGTGAATCGAGTTTTACCAGTGAGGATATTCTTGCTGAGCATCTCCAGACATTGCACCAGAAACCCACAGAGGAGAAAGAATTTAAGTGCAAGAACTGTGGGAAGAAATTCCCAGTTAAGCAGGCTTTGCAAAGACA
Seq A exon
TGTTCTTCAGTGCACAGCGAAAAGCAGTCTAAAGGAGTCTTCGCGAAGTTTTCAGTGCTCTGTTTGCAATTCTTCCTTCAGTTCAGCATCGAG
Seq C2 exon
TTTTGAGCAGCACCAGGAGACTTGCCGGGGGGATGCCAGGTTTGTGTGCAAGGCTGACAGCTGTGGAAAGAGGCTGAAGAGCAAGGATGCCCTGAAAAGACACCAGGAAAATGTCCACACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138738-'23-23,'23-21,26-23
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.077 A=0.000 C2=0.134
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(17.4=12.5),PF0009621=zf-C2H2=PU(60.9=43.8)
C2:
PF0009621=zf-C2H2=PD(34.8=19.5),PF0009621=zf-C2H2=WD(100=63.4)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCATCTCCAGACATTGCACCA
R:
TTTCCACAGCTGTCAGCCTTG
Band lengths:
168-261
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