Special

HsaEX0049952 @ hg19

Exon Skipping

Gene
Description
PR domain containing 5 [Source:HGNC Symbol;Acc:9349]
Coordinates
chr4:121631464-121698436:-
Coord C1 exon
chr4:121698343-121698436
Coord A exon
chr4:121675708-121675793
Coord C2 exon
chr4:121631464-121631568
Length
86 bp
Sequences
Splice sites
3' ss Seq
GAGGCTTCCTTTATTTGTAGGTG
3' ss Score
7.79
5' ss Seq
AGGGTAAGA
5' ss Score
9.21
Exon sequences
Seq C1 exon
ACACATACAGGAGAAAAGGAGAAAATCTGTCCATATTGTGGCCAGAAATTTGCCAGCAGTGGTACACTCAGAGTTCATATCCGGAGCCACACAG
Seq A exon
GTGAGCGTCCCTATCAATGTCCTTACTGTGAAAAAGGATTCAGTAAAAATGATGGACTGAAGATGCACATTCGTACTCACACCAGG
Seq C2 exon
GAGAAGCCGTACAAGTGCTCAGAGTGCAGCAAGGCCTTCAGCCAGAAGCGAGGCCTGGATGAGCACAAGAGGACGCACACTGGAGAAAAGCCTTTTCAGTGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138738-'25-29,'25-27,29-29
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.056 A=0.172 C2=0.289
Domain overlap (PFAM):

C1:
PF134651=zf-H2C2_2=PD(69.2=56.2),PF102764=zf-CHCC=PD(89.5=53.1),PF134651=zf-H2C2_2=PU(38.5=31.2)
A:
PF134651=zf-H2C2_2=PD(57.7=51.7),PF134651=zf-H2C2_2=PU(38.5=34.5)
C2:
PF134651=zf-H2C2_2=PD(53.8=40.0),PF134651=zf-H2C2_2=PU(68.0=48.6)


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:
ACAGGAGAAAAGGAGAAAATCTGTCC
R:
TTCTCCAGTGTGCGTCCTCTT
Band lengths:
175-261
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