HsaEX0046558 @ hg19
Exon Skipping
Gene
ENSG00000162517 | PEF1
Description
penta-EF-hand domain containing 1 [Source:HGNC Symbol;Acc:30009]
Coordinates
chr1:32095463-32110488:-
Coord C1 exon
chr1:32110442-32110488
Coord A exon
chr1:32098760-32098915
Coord C2 exon
chr1:32095463-32096443
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
CTGAGTGTGACGTCAGAATCACCATGGCCAGCTATCCTTACCGGCAG
Seq A exon
GTGGCGCCCCTCCCAATGTGGATCCTGAGGCCTACTCCTGGTTCCAGTCGGTGGACTCAGATCACAGTGGCTATATCTCCATGAAGGAGCTAAAGCAGGCCCTGGTCAACTGCAATTGGTCTTCATTCAATGATGAGACCTGCCTCATGATGATAA
Seq C2 exon
CTCTGTCCCAAATGGGCTACAACCTGAGCCCCCAGTTCACCCAGCTTCTGGTCTCCCGCTACTGCCCACGCTCTGCCAATCCTGCCATGCAGCTTGACCGCTTCATCCAGGTGTGCACCCAGCTGCAGGTGCTGACAGAGGCCTTCCGGGAGAAGGACACAGCTGTACAAGGCAACATTCGGCTCAGCTTCGAGGACTTCGTCACCATGACAGCTTCTCGGATGCTATGACCCAACCATCTGTGGAGAGTGGAGTGCACCAGGGACCTTTCCTGGCTTCTTAGAGTGAGAGAAGTATGTGGACATCTCTTCTTTTCCTGTCCCTCTAGAAGAACATTCTCCCTTGCTTGATGCAACACTGTTCCAAAAGAGGGTGGAGAGTCCTGCATCATAGCCACCAAATAGTGAGGACCGGGGCTGAGGCCACACAGATAGGGGCCTGATGGAGGAGAGGATAGAAGTTGAATGTCCTGATGGCCATGAGCAGTTGAGTGGCACAGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162517_MULTIEX1-3/4=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.219 A=0.189 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF134991=EF-hand_7=FE(71.2=100)
C2:
PF134991=EF-hand_7=PD(73.7=90.9)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ATCACCATGGCCAGCTATCCT
R:
TCCGAGAAGCTGTCATGGTGA
Band lengths:
252-408
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)