HsaEX0051253 @ hg38
Exon Skipping
Gene
ENSG00000187024 | PTRH1
Description
peptidyl-tRNA hydrolase 1 homolog [Source:HGNC Symbol;Acc:HGNC:27039]
Coordinates
chr9:127714379-127715194:-
Coord C1 exon
chr9:127714975-127715194
Coord A exon
chr9:127714603-127714702
Coord C2 exon
chr9:127714379-127714424
Length
100 bp
Sequences
Splice sites
3' ss Seq
TGCCGTTTCCCTGTGCTAAGCGG
3' ss Score
4.81
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
GTGGCTGGCCTGGGGAATCCCGGACTGCCCGGCACGCGACACAGCGTGGGCATGGCGGTGCTGGGGCAGCTGGCGCGGCGGCTGGGTGTGGCGGAGAGTTGGACGCGCGACCGGCACTGTGCCGCCGACCTCGCCCTGGCCCCGCTGGGGGATGCCCAACTGGTCCTGCTCCGGCCACGGCGGCTTATGAACGCCAACGGGCGCAGCGTGGCCCGGGCTG
Seq A exon
CGGAGCTGTTTGGGCTGACTGCCGAGGAAGTCTACCTGGTGCATGATGAGCTGGACAAGCCCCTGGGGAGACTGGCTCTGAAGCTGGGGGGCAGTGCCAG
Seq C2 exon
GGGCCACAATGGAGTCCGTTCCTGCATTAGCTGCCTCAACTCCAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187024_MULTIEX1-2/3=1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.076 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0119514=Pept_tRNA_hydro=PU(88.0=98.6)
A:
PF0119514=Pept_tRNA_hydro=FE(18.5=100)
C2:
PF0119514=Pept_tRNA_hydro=PD(10.8=56.2)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGCTGGCCTGGGGAATC
R:
CAGGAACGGACTCCATTGTGG
Band lengths:
243-343
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development