HsaEX0026815 @ hg38
Exon Skipping
Gene
ENSG00000128683 | GAD1
Description
glutamate decarboxylase 1 [Source:HGNC Symbol;Acc:HGNC:4092]
Coordinates
chr2:170836793-170844157:+
Coord C1 exon
chr2:170836793-170836883
Coord A exon
chr2:170842569-170842654
Coord C2 exon
chr2:170844045-170844157
Length
86 bp
Sequences
Splice sites
3' ss Seq
TCTTCTTCTTCCTTTATCAGGCC
3' ss Score
10.76
5' ss Seq
ATGGTAACT
5' ss Score
6.06
Exon sequences
Seq C1 exon
GTCATCCTCGATTTTTCAACCAGCTCTCCACTGGATTGGATATTATTGGCCTAGCTGGAGAATGGCTGACATCAACGGCCAATACCAACAT
Seq A exon
GCCATCAGACATGAGGGAGTGTTGGTTGCTACGGTGATGGGGCTCAGAGCAGAACCAAAGCATGATTGTGACCTCCAGAGGTGATG
Seq C2 exon
GTTTACATATGAAATTGCACCAGTGTTTGTCCTCATGGAACAAATAACACTTAAGAAGATGAGAGAGATAGTTGGATGGTCAAGTAAAGATGGTGATGGGATATTTTCTCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000128683_MULTIEX2-2/4=C1-3
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=0.000
Domain overlap (PFAM):
C1:
PF0028214=Pyridoxal_deC=FE(39.5=100)
A:
PF0028214=Pyridoxal_deC=PD(7.9=46.2)
C2:
PF0028214=Pyridoxal_deC=FE(10.1=100)
Main Inclusion Isoform:
ENST00000358196fB2860
Associated events
Other assemblies
Conservation
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:
TTCAACCAGCTCTCCACTGGA
R:
CCCATCACCATCTTTACTTGACCA
Band lengths:
177-263
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