HsaEX6016685 @ hg38
Exon Skipping
Gene
ENSG00000128683 | GAD1
Description
glutamate decarboxylase 1 [Source:HGNC Symbol;Acc:HGNC:4092]
Coordinates
chr2:170818529-170829585:+
Coord C1 exon
chr2:170818529-170818673
Coord A exon
chr2:170822087-170822149
Coord C2 exon
chr2:170829475-170829585
Length
63 bp
Sequences
Splice sites
3' ss Seq
CTCCCTCTCTCTCGTCCTAGCGT
3' ss Score
10.72
5' ss Seq
GCGGTAAGT
5' ss Score
11.37
Exon sequences
Seq C1 exon
CCTGTTTCTGCGCCGGACCAGTCGAGGACTCTGGACAGTAGAGGCCCCGGGACGACCGAGCTGATGGCGTCTTCGACCCCATCTTCGTCCGCAACCTCCTCGAACGCGGGAGCGGACCCCAATACCACTAACCTGCGCCCCACAA
Seq A exon
CGTACGATACCTGGTGCGGCGTGGCCCATGGATGCACCAGAAAACTGGGGCTCAAGATCTGCG
Seq C2 exon
GCTTCTTGCAAAGGACCAACAGCCTGGAAGAGAAGAGTCGCCTTGTGAGTGCCTTCAAGGAGAGGCAATCCTCCAAGAACCTGCTTTCCTGTGAAAACAGCGACCGGGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000128683-'6-19,'6-15,13-19=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.810 A=0.002 C2=0.055
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO

Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACTCTGGACAGTAGAGGCCC
R:
TTCCAGGCTGTTGGTCCTTTG
Band lengths:
148-211
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains