HsaEX0046558 @ hg38
Exon Skipping
Gene
ENSG00000162517 | PEF1
Description
penta-EF-hand domain containing 1 [Source:HGNC Symbol;Acc:HGNC:30009]
Coordinates
chr1:31632495-31635522:-
Coord C1 exon
chr1:31635222-31635522
Coord A exon
chr1:31633159-31633314
Coord C2 exon
chr1:31632495-31632638
Length
156 bp
Sequences
Splice sites
3' ss Seq
CTTCACACCCCTTCCTCCAGGTG
3' ss Score
9.39
5' ss Seq
TAAGTGAGT
5' ss Score
6.43
Exon sequences
Seq C1 exon
GGCTGCCCAGGAGCTGCAGGACAAGCACCAGGAGCCCCTCCGGGTAGCTACTACCCTGGACCCCCCAATAGTGGAGGGCAGTATGGTAGTGGGCTACCCCCTGGTGGTGGTTATGGGGGTCCTGCCCCTGGAGGGCCTTATGGACCACCAGCTGGTGGAGGGCCCTATGGACACCCCAATCCTGGGATGTTCCCCTCTGGAACTCCAGGAGGACCATATGGCGGTGCAGCTCCCGGGGGCCCCTATGGTCAGCCACCTCCAAGTTCCTACGGTGCCCAGCAGCCTGGGCTTTATGGACAGG
Seq A exon
GTGGCGCCCCTCCCAATGTGGATCCTGAGGCCTACTCCTGGTTCCAGTCGGTGGACTCAGATCACAGTGGCTATATCTCCATGAAGGAGCTAAAGCAGGCCCTGGTCAACTGCAATTGGTCTTCATTCAATGATGAGACCTGCCTCATGATGATAA
Seq C2 exon
ACATGTTTGACAAGACCAAGTCAGGCCGCATCGATGTCTACGGCTTCTCAGCCCTGTGGAAATTCATCCAGCAGTGGAAGAACCTCTTCCAGCAGTATGACCGGGACCGCTCGGGCTCCATTAGCTACACAGAGCTGCAGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162517-'10-9,'10-8,17-9
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.189 C2=0.000
Domain overlap (PFAM):
C1:
PF134991=EF-hand_7=PU(1.4=1.0)
A:
PF134991=EF-hand_7=FE(71.2=100)
C2:
PF134991=EF-hand_7=PD(26.0=38.8),PF134991=EF-hand_7=PU(25.3=49.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ACTCCAGGAGGACCATATGGC
R:
TGCTGCAGCTCTGTGTAGCTA
Band lengths:
242-398
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