HsaEX0026816 @ hg38
Exon Skipping
Gene
ENSG00000128683 | GAD1
Description
glutamate decarboxylase 1 [Source:HGNC Symbol;Acc:HGNC:4092]
Coordinates
chr2:170844045-170845621:+
Coord C1 exon
chr2:170844045-170844157
Coord A exon
chr2:170844961-170845050
Coord C2 exon
chr2:170845506-170845621
Length
90 bp
Sequences
Splice sites
3' ss Seq
CTCCTTGTGTCTTTATTTAGGTA
3' ss Score
11.16
5' ss Seq
CAGGTAACC
5' ss Score
8.66
Exon sequences
Seq C1 exon
GTTTACATATGAAATTGCACCAGTGTTTGTCCTCATGGAACAAATAACACTTAAGAAGATGAGAGAGATAGTTGGATGGTCAAGTAAAGATGGTGATGGGATATTTTCTCCTG
Seq A exon
GTAAACATGAGTTTGTTCTTATTTTAATAAACTTAGAGCTCTCCTAAATGACTCAGTAACTCAGTTGGGCTGAAGAGAGCACCTAGGCAG
Seq C2 exon
GGGGCGCCATATCCAACATGTACAGCATCATGGCTGCTCGCTACAAGTACTTCCCGGAAGTTAAGACAAAGGGCATGGCGGCTGTGCCTAAACTGGTCCTCTTCACCTCAGAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000128683_MULTIEX2-4/4=3-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.007
Domain overlap (PFAM):
C1:
PF0028214=Pyridoxal_deC=FE(10.1=100)
A:
PF0028214=Pyridoxal_deC=PD(8.5=62.5)
C2:
PF0028214=Pyridoxal_deC=FE(10.1=100)
Main Inclusion Isoform:
ENST00000358196fB2861
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGCACCAGTGTTTGTCCTCA
R:
CCGCCATGCCCTTTGTCTTAA
Band lengths:
180-270
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