HsaEX0026815 @ hg19
Exon Skipping
Gene
ENSG00000128683 | GAD1
Description
glutamate decarboxylase 1 (brain, 67kDa) [Source:HGNC Symbol;Acc:4092]
Coordinates
chr2:171693303-171700667:+
Coord C1 exon
chr2:171693303-171693393
Coord A exon
chr2:171699079-171699164
Coord C2 exon
chr2:171700555-171700667
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_MULTIEX1-1/3=C1-2
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)
Associated events
Other assemblies
Conservation
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
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)