HsaEX0047454 @ hg38
Exon Skipping
Gene
ENSG00000007541 | PIGQ
Description
phosphatidylinositol glycan anchor biosynthesis class Q [Source:HGNC Symbol;Acc:HGNC:14135]
Coordinates
chr16:582248-584136:+
Coord C1 exon
chr16:582248-582309
Coord A exon
chr16:582484-582611
Coord C2 exon
chr16:582883-584136
Length
128 bp
Sequences
Splice sites
3' ss Seq
CCCCTCCCCCTTACCCCCAGGGC
3' ss Score
11.17
5' ss Seq
TGAGTGAGT
5' ss Score
6.51
Exon sequences
Seq C1 exon
CTGGCGTGAAGTTCCGTGTCCTCCGGCACGAGGCCGGCAGGCCCCTCCGCCTCCTGATGCAG
Seq A exon
GGCCTGAGGACACTGGTGTGGTCCTGTGGATGGGGCCCATTCTGCCCTGTGTCGGAGGCGCCCTTGGCTGGCTGGGGCTGCCCTGGGCCCCACAGGGCTCAAGTTCTGGGTGGAACAGAACCGACTGA
Seq C2 exon
ATAAACCCACTGCCCTACAGCCGCGTGGTGCACACCTACCGCCTCCCCAGCTGTGGCTGCCACCCCAAGCACTCCTGGGGCGCCCTGTGCCGCAAGCTGTTCCTTGGGGAGCTCATCTACCCCTGGAGGCAGAGAGGGGACAAGCAGGACTGAGGGAACTGCTGGCTCGCCTGGCACCACCACACGGCCACAGCCAGCCATCTGCTCTGCCAGGGTGGCACCAGCTCAGCTGGCGCATGTCCTGTGCTTTGTGGACGCTGCTGTGTGCTCCTGAACACGGCAGGCCCTGCTATCACACCTTGGGCTTGGAGGTCATTGGGAGTGAGCAGATGTGGGGGTGGCCAGCCAGGCTGGCCGCACTCCATCACTGGCACTGCCTGCCTTGGGACCCGCTTCCCACCTGCTGCGGTCACCATGGTGGCGAGCACAGCAACCCCAGGTGTCCAGAGCACTGCCCCATGCCCACCCTGTGTACCCAGGTCCAGAGGGTCCGTCCACCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007541_MULTIEX1-5/5=4-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.054 A=0.163 C2=0.149
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000321878fB5207
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCGTGAAGTTCCGTGTCCTC
R:
CTGTGGCCGTGTGGTGGT
Band lengths:
252-380
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