HsaEX0046555 @ hg38
Exon Skipping
Gene
ENSG00000162517 | PEF1
Description
penta-EF-hand domain containing 1 [Source:HGNC Symbol;Acc:HGNC:30009]
Coordinates
chr1:31633159-31644887:-
Coord C1 exon
chr1:31644841-31644887
Coord A exon
chr1:31635222-31635522
Coord C2 exon
chr1:31633159-31633314
Length
301 bp
Sequences
Splice sites
3' ss Seq
ATATCTTGCTCTTCCTGCAGGGC
3' ss Score
10.95
5' ss Seq
AGGGTAAGT
5' ss Score
10.45
Exon sequences
Seq C1 exon
CTGAGTGTGACGTCAGAATCACCATGGCCAGCTATCCTTACCGGCAG
Seq A exon
GGCTGCCCAGGAGCTGCAGGACAAGCACCAGGAGCCCCTCCGGGTAGCTACTACCCTGGACCCCCCAATAGTGGAGGGCAGTATGGTAGTGGGCTACCCCCTGGTGGTGGTTATGGGGGTCCTGCCCCTGGAGGGCCTTATGGACCACCAGCTGGTGGAGGGCCCTATGGACACCCCAATCCTGGGATGTTCCCCTCTGGAACTCCAGGAGGACCATATGGCGGTGCAGCTCCCGGGGGCCCCTATGGTCAGCCACCTCCAAGTTCCTACGGTGCCCAGCAGCCTGGGCTTTATGGACAGG
Seq C2 exon
GTGGCGCCCCTCCCAATGTGGATCCTGAGGCCTACTCCTGGTTCCAGTCGGTGGACTCAGATCACAGTGGCTATATCTCCATGAAGGAGCTAAAGCAGGCCCTGGTCAACTGCAATTGGTCTTCATTCAATGATGAGACCTGCCTCATGATGATAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162517-'0-8,'0-4,10-8
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.188 A=1.000 C2=0.189
Domain overlap (PFAM):
C1:
NO
A:
PF134991=EF-hand_7=PU(1.4=1.0)
C2:
PF134991=EF-hand_7=FE(71.2=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTGTGACGTCAGAATCACCA
R:
ATCATCATGAGGCAGGTCTCA
Band lengths:
198-499
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