HsaEX1015134 @ 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
chr2:170838207-170838274
Coord C2 exon
chr2:170844045-170844157
Length
68 bp
Sequences
Splice sites
3' ss Seq
TTCATGCTCCCTGCTTGCAGGTC
3' ss Score
10.8
5' ss Seq
CAGGTCAAA
5' ss Score
2.44
Exon sequences
Seq C1 exon
GTCATCCTCGATTTTTCAACCAGCTCTCCACTGGATTGGATATTATTGGCCTAGCTGGAGAATGGCTGACATCAACGGCCAATACCAACAT
Seq A exon
GTCATGGTTAGCTTCACAGACTGTCCATGTTGGGTCACTGAGATTTGGAAGAGCCAAGAGGAATACAG
Seq C2 exon
GTTTACATATGAAATTGCACCAGTGTTTGTCCTCATGGAACAAATAACACTTAAGAAGATGAGAGAGATAGTTGGATGGTCAAGTAAAGATGGTGATGGGATATTTTCTCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000128683_MULTIEX2-1/4=C1-3
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
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(12.5=41.7)
C2:
PF0028214=Pyridoxal_deC=FE(10.1=100)
Main Inclusion Isoform:
ENST00000358196fB16071
Other Inclusion Isoforms:
NA
Associated events
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:
TTCAACCAGCTCTCCACTGGA
R:
CCCATCACCATCTTTACTTGACCA
Band lengths:
177-245
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains